Entanglements of Rare Diseases in the Baltic Sea Region (Anthropology of Well-Being: Individual, Community, Society) 1666942383, 9781666942385

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Entanglements of Rare Diseases in the Baltic Sea Region

ANTHROPOLOGY OF WELL-BEING: INDIVIDUAL, COMMUNITY, SOCIETY Series Editor

Mary Cameron, Florida Atlantic University Mission Statement Well-being is central and important in people’s daily lives and life history. This book series brings about understanding of what the complex concepts of well-being include. The concepts of quality of life, life satisfaction, and happiness will be explored and viewed at the individual level, the community level, and the level of society. The series encourages and promotes research into the concept of well-being, how it appears to be defined culturally, and how it is utilized across levels and across different social, economic, and ethnic groups. Understandings of how well-being promotes stability and resilience will also be critical to advances in understanding, as well as how well-being can be implemented as a goal in resisting vulnerabilities and in adaptation. Series books include monographs and edited collections by a range of academics, from rising scholars to experts in relevant fields. Recent Titles in the Series Entanglements of Rare Diseases in the Baltic Sea Region, edited by Małgorzata Rajtar and Katarzyna E. Król The Moral Evaluation of Emergency Department Patients: An Ethnography of Triage Work in Romania by Marius Wamsiedel Well-Being as a Multidimensional Concept: Understanding Connections among Culture, Community, and Health, edited by Janet M. Page-Reeves Boundaries of Care: Community Health Workers in the United States, by Ryan I. Logan Clinical Anthropology 2.0: Improving Medical Education and Patient Experience, edited by Jason W. Wilson and Roberta D. Baer Living with HIV in Post-Crisis Times: Beyond the Endgame, edited by David A.B. Murray Diversity and Cultural Competence in the Health Sector: Ebola-Affected Countries in West Africa, by Mohamed Kanu, Elizabeth A. Williams, Charles Williams, and Regina Bash-Taqi Everyday Food Practices: Commercialisation and Consumption in the Periphery of the Global North, by Tarunna Sebastian No Perfect Birth: Trauma and Obstetric Care in the Rural United States, by Kristin Haltinner

Entanglements of Rare Diseases in the Baltic Sea Region Małgorzata Rajtar and Katarzyna E. Król

LEXINGTON BOOKS

Lanham • Boulder • New York • London

Published by Lexington Books An imprint of The Rowman & Littlefield Publishing Group, Inc. 4501 Forbes Boulevard, Suite 200, Lanham, Maryland 20706 www​.rowman​.com 86-90 Paul Street, London EC2A 4NE Copyright © 2024 by The Rowman & Littlefield Publishing Group, Inc. All rights reserved. No part of this book may be reproduced in any form or by any electronic or mechanical means, including information storage and retrieval systems, without written permission from the publisher, except by a reviewer who may quote passages in a review. British Library Cataloguing in Publication Information Available Library of Congress Cataloging-in-Publication Data Available ISBN 978-1-66694-238-5 (cloth: alk. paper) ISBN 978-1-66694-239-2 (electronic) The paper used in this publication meets the minimum requirements of American National Standard for Information Sciences—Permanence of Paper for Printed Library Materials, ANSI/NISO Z39.48-1992.

Contents

List of Tables and Figures

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Acknowledgments ix Introduction 1 Małgorzata Rajtar and Katarzyna E. Król Chapter 1: Matriarchal Management, Expert Caregiving, and Intensive Mothering among Mothers of Children with Phenylketonuria 21 Anna Chowaniec Chapter 2: Between Paternalism and Autonomy: Polish and Swedish Configurations of Caring for Children with Inherited Metabolic Disease Filip Rogalski

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Chapter 3: Food as Medicine: Culinary Workshops for Patients with Rare Inborn Errors of Metabolism from Anthropological and Dietary Perspectives Katarzyna E. Król and Ewa Ehmke vel Emczyńska-Seliga Chapter 4: Between Standard and Experimental: Knowledge Production and Tube Feeding Practices in Finland and Poland Małgorzata Rajtar



Chapter 5: Entangled and Layered Temporalities: Rare-Disease Patients’ Expectations about Clinical Gene Editing Karoliina Snell, Roosa Harmo, and Kirmo Wartiovaara Chapter 6: Health Emigration in Rare Disease: A Case Study Małgorzata Skweres-Kuchta v

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Contents

Chapter 7: “Are You a Disabled Person?”: Disability and Rare Metabolic Disorders in Poland Jan Frydrych Conclusion: Rare Diseases and Cultures of Caring Aaro Tupasela Index



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About the Editors



About the Contributors

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List of Tables and Figures

TABLES Table 3.1. Traditional and Low-Protein Diet.

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Table 3.2. Traditional and Very Low-Fat Diet with MCT.

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FIGURES Figure 6.1. Intentional sampling.

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Figure 6.2. Support system comparison.

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Figure 6.3. Education and professional activity.

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Figure 6.4. Family situation.

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Figure 6.5. Return to the home country.

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Acknowledgments

We would like to express our heartfelt gratitude to all the contributors who have made this edited volume possible. Each chapter represents a unique contribution, and we are deeply appreciative of the time, effort, and expertise you have dedicated to this project. We would also like to thank the members and collaborators of the Rare Disease Social Research Center in the Institute of Philosophy and Sociology, Polish Academy of Sciences, for our discussions and joint effort to better understand the challenges faced by people with rare diseases and their caregivers. Thanks to Tomasz Saliński for providing this volume’s cover image that imaginatively captures the disperse, heterogenous, and entangled nature of rare diseases. Furthermore, we extend our sincere thanks to the editors of Lexington Books/Rowman & Littlefield who have played an instrumental role in shaping this volume into its final form. In particular, we would like to thank Alexandra Rallo for her exceptional editorial guidance and unwavering commitment throughout the entire process. This edited volume would not have been possible without the combined efforts of all the contributors and editors involved. We extend our deepest thanks to each and every individual who has contributed their time, knowledge, and expertise to bring this volume to completion. Katarzyna Król would like to extend her heartful gratitude to Małgorzata Rajtar, who has been a constant source of encouragement and inspiration. Her professionalism and dedication have played a pivotal role in making this edited volume a success. Moreover, I would like to extend my gratitude to the Max Planck Institute for Social Anthropology for providing me with an academically stimulating environment and invaluable resources that have enriched my research journey. I would also like to express my utmost appreciation for the transformative experience and unwavering support generously provided by the researchers at MeinWe (Personalized Medicine in the Welfare ix

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Acknowledgments

State) and the Centre for Medical Science and Technology Studies (MeST) at the University of Copenhagen during the final weeks completing this volume. Małgorzata Rajtar would like to thank Katarzyna Król for our companionship on this research intensive and intellectually challenging journey. I also would like to thank Karoliina Snell, Aaro Tupasela, and Heta Tarkkala from the University of Helsinki whose company and grounded knowledge of social science studies on genetics and data in Finland and beyond have been a constant source of inspiration. The Helsinki Collegium for Advanced Studies and the Center for Science, Technology, Medicine & Society at University of California, Berkeley, provided me with the necessary time and academically inspiring atmosphere to examine the multifarious dimensions of rare diseases. Special thanks to Jake Heida and our four-legged companion, Milo, who keep reminding me that hiking also provides ample food for thought. Finally, we gratefully acknowledge the generous support and funding provided by the National Science Centre in Poland (Grant No. 2017/26/E/ HS3/00291) that made this edited volume possible.

Introduction Małgorzata Rajtar and Katarzyna E. Król

In 2008, EURORDIS-Rare Diseases Europe, a group that now includes over one thousand patient organizations, together with a number of national alliances, created Rare Disease Day.1 Celebrated across the world on the last day of February, the rarest day of the year in leap years, Rare Disease Day is intended to raise awareness and improve the lives of people living with a rare disease (RD), their families, and caregivers. The campaign’s bright pink, blue, and green colors and its slogan “#ShareYourColours” help to make this a joyful celebration of the RD community, solidarity, and storytelling. ‌‌Also known as “rare disorders” and “orphan diseases” (Richter et al. 2015), RDs became a public health category in the United States of America (US) in the mid-1980s, and in Japan, South Korea, Singapore, Taiwan, Australia, and the European Union (EU) during the 1990s (Huyard 2009; Mikami 2019). However, there is no universal definition. In the EU and Australia, RDs are defined as conditions that affect no more than one in two thousand people, in the US those that affect fewer than two hundred thousand people, and in Japan those that affect fewer than fifty thousand. Individually rare, but collectively numerous, an estimated thirty million people in the EU and about three hundred million people globally live with RDs. Characterized by “heterogeneity and variability” (Morel and Cano 2017, 3), many RDs are life-threatening and/or chronically debilitating conditions that result in high degrees of morbidity and mortality and thus pose a serious threat to global public health (Council of the EU 2009; Hedley et al. 2021; Libura et al. 2016; Lopez Gousset and Bolz-Johnson 2021; Tumiene et al. 2021; von der Lippe, Diesen and Feragen 2017). The playfulness embedded in the “#ShareYourColours” campaign stands in stark contrast to the daily lives of people with RDs and their family members. In some countries, such as Poland, traditional and social media outlets recurrently call on their audiences to support a child—or occasionally an adult—living with an RD. As taxpayers in Poland are allowed to allocate 1

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1.5 percent of their taxes to a registered nongovernmental organization,2 these calls proliferate when taxes are due; embedded in the timeline of the tax system, they also align with the Rare Disease Day celebrations. Grounded in “affective economies” (Ahmed 2004; see also Aureliano and Gibbon 2020; Buchbinder and Timmermans 2014), such appeals solicit strong emotional responses and empathy that often result in substantial donations. Although these emphatically emotive appeals to the public are more common in some countries, such as Poland, than others, like Finland,3 scholars have argued that rarity is experientially characterized by “its connection with an emotional feeling of justice” rather than rational arguments (Huyard 2009, 467).4 When the United Nations (UN) adopted the resolution “Addressing the challenges of persons living with a rare disease and their families” on December 16, 2021, RDs became a global health concern. This resolution urges Member States, UN agencies, and other stakeholders to design and implement policies and programs intended to fulfill the rights of people living with RDs. Policy documents such as this resolution, as well as scientific and patient advocacy scholarship, emphasize the fact that people with RDs and their families are a vulnerable population. While the notion of vulnerability has been criticized for its “vagueness” in public health and health care research and practice (Katz et al. 2019), it nonetheless remains a commonly used term in the field of RDs (Rajtar 2020). Thus, for instance, when discussing the impact of the COVID-19 pandemic, members of EURORDIS-Rare Diseases Europe stressed that people living with RDs and their families are “a marginalised and largely invisible population, with little information about their diseases and their rights, few treatments, and a high level of health, psychological, social and economic vulnerability” (Castro et al. 2021). They further argued that the COVID-19 pandemic had only exacerbated this situation (see also, e.g., Tobór-Światek et al. 2021; Lampe et al. 2020; cf. Król and Rajtar 2022). By tracing the history of the RD category in the United States and Europe, Caroline Huyard (2009) has revealed that people with RDs have been afforded a different status in these two regions. During the 1980s in the United States, they were consumers who no longer had access to treatment; in Europe they have been considered “patients whose needs challenge the health-care system” (Huyard 2009, 467). The unique US view of patients as drug consumers, Huyard has argued, shifted the debate “from the issue of drug withdrawal to the issue of the unmet needs of people with a rare disease” (2009, 467). Since that time, the language of “rights” and “needs” has increasingly permeated the RD field. For instance, the 2021 Global Needs Assessment Study identified ten common areas of need that impact on the diagnosis, care, and treatment of the global RD population (Lopez Gousset and Bolz-Johnson 2021). This report underlined the fact that problems in these “interrelated” areas

Introduction

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result from “a lack of awareness and understanding of rare diseases at different levels of society” (Lopez Gousset and Bolz-Johnson 2021, 1). Education and “increased awareness,” the report argued, would facilitate the development and implementation of policies, specialized budgets, improved care, and the community empowerment required to address “the burden that rare diseases represent for individuals, families, and healthcare systems.” “Social and cultural acceptance, equality, and inclusion of persons living with a rare disease” were listed in the report as the most urgent requirements. Employing human rights language and underlining the vulnerability of the RD community, it postulated that “reducing exclusion from society is a human rights issue that urgently needs to be addressed for this vulnerable community” (Lopez Gousset and Bolz-Johnson 2021, 3). The authors, members of Rare Disease International (RDI),5 prided themselves on the report’s global reach; data was collected from patient representatives and medical experts as “proxies” for their respective RD populations, who represented around 83 percent of the global RD population. The Global Needs Assessment Report is a good example of the proliferating production of materials and advocacy in the field of RDs. Health policy makers, medical professionals, and local and global patient organizations and alliances such as EURORDIS and RDI have intensified their efforts over the past decade and increasingly employed the notion of RDs as a unifying category to address entanglements of the political and biological. However, social science scholars, including anthropologists, have been reluctant to critically examine the RD category or the impact of international and national healthcare policies as well as local configurations and practices on RD patients and their families. While medical anthropology foregrounds “critical, cross-cultural, people-centered, and transdisciplinary” approaches to health and well-being (Panter-Brick and Eggerman 2018, 234), it has yet to direct such attention on RDs. We are not claiming that social scientists have neglected the RD population. The scholarship includes considerable work documenting the emergence of new identities and biosociality (Rabinow 1996), as well as the ability of patient advocacy organizations to mobilize political action and contribute to the production of knowledge (e.g., Heath, Rapp, and Taussig 2004; Herbst 2016; Knoll 2017; Mikami 2020; Navon 2019; Novas 2016; Gibbon and Aureliano 2018; Panofsky 2011; Rabeharisoa, Moreira, and Akrich 2014; Raz, Amano, and Timmermans 2018). Social scientists have addressed the issue of orphan drugs (McGuire 2020) and scrutinized the practices and impact of medical technologies, such as newborn screening (NBS), in the context of RDs (Timmermans and Buchbinder 2013). Furthermore, many anthropologists and sociologists have examined separate rare genetic diseases (Beck 2005; Featherstone and Atkinson 2012; Maciejewska-Mroczek et al.

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2019; Unnithan et al. 2023; Wailoo 2007). As around 80 percent of RDs are genetic in nature, a focus on genes and breakthroughs in genomics and gene therapies is understandable, and such an approach may be productive in maintaining the boundaries and uniqueness of the discipline. However, it could also impede both interdisciplinary collaboration (Panter-Brick and Eggerman 2018) and the dissemination of social science insights on the daily lives of people with RDs and their caregivers, as well as the socio-political, medical, and economic arrangements that directly affect the RD community. Furthermore, it prevents social scientists from critically engaging with biomedically-reductionistic understandings of the RD category (Rajtar and Knoll forthcoming). The majority of RD research from anthropological and social science perspectives has focused on Western Europe and North America. As Małgorzata Rajtar and Eva-Maria Knoll (forthcoming) have argued elsewhere, “the RD field remains dominated by biomedical agents in the ‘Global North,’ despite the UN resolution.” They have also shown that even in the resource-rich Global North, people with RDs tend to experience less health equity than counterparts with more common conditions. Thus, social science researchers have paid insufficient attention to those with RDs on the “peripheries” of the Global North, or in the Global South. While acknowledging the global dimension of RDs, as underlined by the UN resolution and initiatives such as RDI, this volume attends to local configurations of RDs in an often overlooked region.6 Each chapter critically explores entanglements between people with a RD and/or families of children with a RD and care practices that depend on local healthcare policies, practices, and treatment modalities, as well as access to and understandings of technologies. The concept of entanglement (Barad 2007; Callon and Rabeharisoa 2004; Dimond et al. 2022; Helosvuori 2020; Lindén 2021) emphasizes the embeddedness of RDs in local, socio-cultural contexts, enabling us to illuminate both how rareness and chronicity are intertwined with care, kinship, and technologies in the lives of patients and families, and how they engender and are engendered by treatment modalities, health policies, and health practices. Drawing on scholarship in science and technology studies (STS), Huyard (2009) has characterized the RD category as a “boundary object” (Star and Griesemer 1989). As such, RDs are “objects with multiple membership” in different social worlds (Star and Griesemer 1989, 411). According to Huyard (2009, 465), patients, physicians, pharmaceutical companies, and public bodies have all contributed to the concept of RDs, and for patients, “the experiential basis of the experience of ‘being rare’ . . . is a key feature of the category of rare diseases” (2009, 468). By using the concept of entanglement, we will expand on Huyard’s insights and go beyond the social worlds and

Introduction

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groups in which her characterization of the RD category as a boundary object partakes. Entanglements “are not isolated binary coproductions” as Karen Barad has aptly phrased it (2007, x), they are characterized by an inseparability of human and nonhuman entities (Barad 2007; Friese and Latimer 2019; Lindén 2021). As the majority of RDs are genetic in origin, genetics “helps to make new entanglements visible and tangible, and causes them to proliferate” (Callon and Rabeharisoa 2004, 17). Since around 70 percent of RDs affect children, the experience of being rare is no longer the organizing and categorizing principle of the RD category; rather it has been replaced by an entanglement between the individual and family within the context of genetic testing and genetic disease (Dimond et al. 2022; Sui and SleeboomFaulkner 2010; Unnithan et al. 2023). This experience may also involve new forms of relatedness extending beyond kin, emerging between children with the same genetic mutation appearing for the first time in their family history; this “datasociality” is facilitated by novel infrastructures provided by precision medicine (Navne and Svendsen 2022). Rare diseases are also entangled with more common conditions; they both involve “chronic living,” which Lenore Manderson and Ayo Wahlberg have described as “the manifold ways in which people attend to, experience, and take care of themselves and their medical conditions often with the indispensable help of loved ones, in differing life conditions and with stratified access to (life-saving) medical treatment and care” (2020, 431; see also Greco and Graber 2022; Manderson and Smith-Morris 2010). Furthermore, rare conditions have increasingly been “leveraged” within biomedical research and knowledge production (Navon 2019, 97–133). As Daniel Navon, among others, has emphasized, alongside understanding and helping individuals with a rare genetic condition, the goal of research conducted on people with RDs is to facilitate “broader understandings of the relationship between genes and human difference” (2019, 131). Navon further argued that even if a mutation could not be “rendered the gene for an established disorder, leveraging can turn it into a gene for even the most common conditions” (2019, 133, original emphasis). In the context of our volume, this leveraging of RD research has been foregrounded by biomedical and genetic researchers in the Nordic countries, particularly in the isolated population of Finland (Kääriäinen et al. 2017; Tarkkala and Tupasela 2018; Tupasela 2017; Tupasela, Snell, and Tarkkala 2020; see also Rajtar 2023). Nonetheless, unlike people with common diseases, the daily lives of individuals with an RD are marked by a scarcity of knowledge and experts, and a lack of public recognition and understanding. This, in turn, translates into no or delayed diagnosis, little or no treatment options, inadequate social support, and often stigmatization (Diesen et al. 2015; Kwaśniewska 2022; von der Lippe, Diesen, and Feragen 2017).

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ABOUT THIS VOLUME This volume results from ethnographic research conducted between 2018 and 2023 documenting the everyday lives of people diagnosed with rare metabolic genetic disorders in Finland, Poland, and Sweden.7 Employing cross-cultural ethnography (e.g., Trnka, 2017), researchers have examined the infrastructures of care for rare disorders in each of these countries and the particular ways in which scientific knowledge is implemented, illuminating variations in relationships with medical professionals, attitudes to medical technologies, and local understandings of disability. The major research interests of this project are reflected in this volume, which also benefits from contributions from scholars and patient activists working on rare disorders, genetics, and health data in the Baltic Sea Region. Together, we hope to provide readers with a rewarding and constructive view of the “peripheries” of both medicine and Europe. While this volume focuses on Poland (chapters by Chowaniec, Król and Ehmke, and Frydrych), it nonetheless provides a comparative perspective with the situation of adults and children with RDs in countries around the Baltic Sea region, primarily Finland and Sweden (chapters by Rogalski, Rajtar, and Snell, Harmo and Wartiovaara). Like Poland, these countries are underrepresented in the medical anthropological and social science literature on RDs. In Finland, geneticists and pediatricians have been studying RDs through the lens of the Finnish Disease Heritage (FDH) for several decades. Introduced in the early 1970s, the notion of FDH encompasses almost forty, mostly autosomal recessive RDs that are overrepresented in the country (Norio 2003; see also e.g., Kääriäinen et al. 2017; Tupasela 2017). Simultaneously, this designation highlights the fact that a number of rare hereditary disorders that are quite prevalent in other countries, such as phenylketonuria and cystic fibrosis, are extremely rare or almost nonexistent in Finland. This body of research has focused on the genetic uniqueness of the isolated Finnish population and the potential for research on more common diseases. Moreover, it has facilitated a “branding” of the Finnish population within the global bio-economy (Tupasela 2017).8 Anthropologists have conducted comparisons since the inception of the discipline (e.g., Candea 2019; Trnka 2017). Given the geographical, historical, and socio-economic proximity of Finland and Sweden, they may not appear to be obvious choices for contrast with a Central European, postsocialist country such as Poland. Nonetheless, we argue that these three countries bear comparison due to two crucial health policy issues that shape the lives of people with RDs. Firstly, Finland, Poland, and Sweden include a relatively high number of diseases in their NBS panels: twenty-two, twenty-nine, and

Introduction

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twenty-five, respectively (Loeber et al. 2021). They also all screen for a range of inherited metabolic diseases (IMDs),9 the primary focus of most chapters in this volume (Chowaniec; Rogalski; Król and Ehmke; Rajtar; and Frydrych). As the majority of RDs start in early childhood, the World Health Organization (2010) has promoted NBS and other testing technologies to enable “early detection, treatment and care.” Secondly, despite EU recommendations that each member state should have a national strategy for RDs in place by 2013 (Council of the EU 2009), Finland was the only country to come close to this deadline, completing their plan in 2014 (Ministry of Social Affairs and Health 2015; see Hedley et al. 2021). Poland and Sweden, along with Malta, were the only EU countries that had no strategy for RDs at all at that time: Poland eventually adopted a national plan for RDs in September 2021 (PCR 2021). While health policies shape institutional solutions that, in turn, impact on RD patients and their families, we argue that differences in care practices can arise against the background of similar clinical and treatment recommendations. This is well illustrated in comparative chapters on the notions of paternal responsibility and autonomy in Poland and Sweden (Rogalski) and on the use and value of medical technologies, such as feeding tubes in Finland and Poland (Rajtar), and gene editing technologies in Finland (Snell, Harmo, and Wartiovaara). The dramatic impact that national health policies have on reimbursement for RD drugs and treatment is examined in a chapter on health migration from Poland to Germany, another Baltic country (Skweres-Kuchta). OVERVIEW OF THE CHAPTERS This volume opens with Anna Chowaniec examining how motherhood is enacted when caring for a child living with phenylketonuria (PKU), a rare IMD that leads to severe intellectual and physical disability if untreated. The history of PKU is, as Chowaniec aptly phrases it, “a tale of maternal determination.” Pearl S. Buck (1892–1973), an American writer and Nobel Prize winner best known for The Good Earth (1931), has probably been the most famous mother whose life has been entangled with PKU. Born in 1920, her daughter Carol was eventually diagnosed with PKU in the late 1950s. Proceeds from The Good Earth helped pay for Carol’s care and establish an endowment for her at the Vineland Training School, a private institution in New Jersey (Paul and Brosco 2013, 2). Considered “a paradigmatic case for screening” that has changed public health (Cornel et al. 2021, 258), the inclusion of PKU in NBS panels since their introduction in the UK and United States during the 1960s lead to wide acclaim for this “victory for scientific medicine” (Paul and Brosco 2013, XIII). The development of tandem mass

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spectrometry (MS/MS) in the late 1990s, which can screen for up to fifty conditions from a single spot of blood, enabled NBS to be expanded (Cornel et al. 2021; Loeber et al. 2021). A 2021 report detailing the “common needs” of the global RD community presented screening as “crucial” for swifter diagnosis and called for an expansion of premarital, prenatal, and newborn screening “in certain regions to reduce the incidence [of RDs] and eliminate the diagnostic odyssey” (Lopez Gousset and Bolz-Johnson 2021, 4). With some exceptions, such as Finland where it is extremely rare (Kääriäinen et al. 2017; Norio 2003), PKU (alongside Medium-Chain Acyl-coA Dehydrogenase [MCAD] deficiency) is the most common IMD (Pugliese et al. 2020). Drawing from ethnographic research among families of children with PKU in Poland, Chowaniec shows how mothers have “had to develop their own, resilient responses” to their child’s diagnosis of an uncurable, chronic disease by assuming expert, managerial, and caregiving roles, and how they enact these roles when dealing with relatives, healthcare professionals and social services. Like other IMDs examined in this volume, treatment for PKU is based on a special diet, in this case low-phenylalanine (low-protein) foods. People with IMDs are generally a “highly medically supervised population” (Lampe et al. 2020, 13) and those with PKU are no exception: in addition to rigorous dietary restrictions, their phenylalanine (Phe) levels must be monitored through blood sample analysis several times a month. In her ethnography of everyday elements, Chowaniec reveals how mothers of children with PKU navigate between culturally ingrained expectations that prescribe women in Poland as “natural” feeders of the family and biomedically supervised treatment. As a result, she argues, cooking and preparing food for children with PKU emerges as both a mundane, domestic activity and an expression of expert knowledge and skill, without which PKU treatment would be futile. Chowaniec’s description of a lack of “comprehensive solutions in Poland for either PKU patients or their caregivers that would simultaneously provide support in the three fundamental principles of PKU therapy” is further explored in chapter 2, in which Filip Rogalski attends to treatment and care practices for selected IMDs from a comparative perspective. Although clinical care for IMDs follows similar models and standardized guidelines in Poland and Sweden, Rogalski discusses the impact of national differences in notions of parental responsibility and the impact of IMDs on a child’s life. Like Chowaniec in her chapter, Rogalski also emphasizes that parents of children with IMDs carry the main burden of treatment in both Poland and Sweden. This involves attaining biomedical knowledge and appropriate dietary guidelines, constantly monitoring the child’s condition, attending frequent health check-ups, and dealing with healthcare and social service professionals. Inspired by Susanna Trnka’s (2017) comparative study of care

Introduction

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models for childhood asthma in New Zealand and the Czech Republic and her notion of an interrelationality of care, Rogalski examines how “a focus on self-management can lead to distinct notions of care and responsibility” in the case of IMDs. He marvels at “the efficient simplicity of Swedish solutions, and how results achieved through the unobvious and never taken-for-granted personal involvement of doctors and dietitians in Poland, were ‘hardwired’ into the workings of the Swedish system.” Attending to practical solutions embedded in institutional care for IMDs, such as establishing remote contact with a metabolic doctor when a child is unwell, handling emergency admissions, and accessing special medical foods, Rogalski observes that these practicalities, routinized and institutionalized in Sweden, tend to be “established on the fringes of the system, through the efforts of individual doctors” in Poland. Emphasizing how interrelationality of care (Trnka 2017), biosociality (Rabinow 1996), and a strong and special relationship between parents and their child’s metabolic doctor is entangled with systemic solutions, Rogalski argues that parental autonomy in Poland is highly dependent on building trust with that medical professional. He also juxtaposes this paternalistic understanding of parental responsibility and autonomy with the individualistic understanding in Sweden that places emphasis on parental choice and a high degree of autonomy in decisions about treatment, care, and well-being. Written by Katarzyna E. Król, an anthropologist, and Ewa Ehmke vel. Emczyńska-Seliga, a dietitian, chapter 3 showcases the culinary workshops held in Poland for people living with a rare metabolic disease and/or their caregivers. These workshops are organized by healthcare professionals, mainly metabolic pediatricians and dietitians, in collaboration with the multinational companies that manufacture foods for special medical purposes.10 Among the countries covered in this volume, culinary workshops are a uniquely Polish way to create “sociability” (Panofsky 2011) among families of children with IMDs. While, as Rogalski notes in the previous chapter, the metabolic unit at the Swedish Karolinska Hospital in Solna has a fully equipped kitchen for dietitians to cook and eat with patients and their families and hence educate parents and identify potential feeding problems, culinary workshops enable families to build biosociality (Rabinow 1996). This is particularly important for Polish metabolic patients, who are underrepresented in patient advocacy organizations. These workshops provide space beyond social media for families and caretakers to meet and network, while also challenging biomedical understandings of what it means to correctly care for a child with an IMD. Situated at the borderlands of biomedicine, outside the clinic and in modern culinary studios, workshops facilitate a more holistic approach towards treatment and patients; during these meetings, family becomes a unit of culinary intervention and commensality. Król and Ehmke vel. Emczyńska-Seliga discovered that these workshops serve as spaces where new practices of care

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can be crafted. Guided by dieticians and professional chefs, parents not only receive instruction, they also negotiate how best to perform “chronic homework” (Mattingly, Grøn, and Meinert 2011) while preparing nutritious yet enjoyable meals. By doing so, they skillfully blend biomedical requirements with the emotional and social needs of their families. Workshops also provide an opportunity for less hierarchical knowledge transfers than other encounters between doctors and RD patients and/or parents. Interestingly however, there is no mention during these workshops of the medical technologies that can facilitate the correct intake of nutrients in IMD patients. In chapter 4, Małgorzata Rajtar draws from her ethnographic research conducted among people with IMDs and their families in Finland and Poland, to address a medical technology used for some of these conditions, such as long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency: the gastrostomy tube. Tube feeding is used to deliver sustenance to patients unable or unwilling to consume the food necessary to ensure their development and quality of life; it also provides relief for parents by enabling them to sleep. While European recommendations are recognized in both Finland and Poland, Rajtar has observed differences in how gastrostomy tube feeding is perceived and practiced. She explores how use of this medical technology is being standardized in Finland as a “technological imperative” (Koenig 1988) and juxtaposes this standardization and stabilization of gastrostomy use with the situation in Poland, where both health professionals and parents imbue gastrostomy with meanings that contribute to its use as experimental technology. Rajtar argues that gastrostomy use in rare metabolic diseases is not only the result of implemented medical knowledge and established practices, it also depends on the experiential knowledge of users and non-users. While Rajtar attends to an existing medical technology, chapter 5 sheds light on the possibilities presented for RD patients by CRISPR-Cas9 based gene editing technologies. Karoliina Snell, Roosa Harmo, and Kirmo Wartiovaara emphasize that, despite the potential to improve lives, use of CRISPRCas9 also presents challenges: individual, technical, socio-economic, and ethical. As gene-editing technologies offer a future rather than immediate possibility of cure, these challenges, as well as potential medical risks, cannot be fully predicted. Drawing from interviews with RD patients in Finland, the authors examine patient evaluations of and reasons for undergoing such treatment, focusing on what they describe as “layered temporalities” to emphasize the multilayered role of time in seeking care and cure. While RD patients in the study generally welcomed the possibility of gene editing, they were aware of the low priority assigned to developing cures for RDs. Furthermore, conscious of the potential impact of treatment on their knowledge and management of disease symptoms, daily routines (“ordered life”), their identity, and family relations, they perceived gene editing as a potentially risky therapy,

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both medically and personally. Snell, Harmo, and Wartiovaara show how, for these patients, previous experiences of diagnosis, different and not always successful treatments, and current routines are entangled with future expectations regarding the gene editing treatment: both diagnosis and potential cure may constitute a disruption. According to the 2021 Global Needs Assessment Study report, “access to affordable care, diagnosis, and treatment” ranks highly among the global RD community (Lopez Gousset and Bolz-Johnson 2021, 3), who undergo unequal access to health care, including orphan drugs, both within and across countries (e.g., Gibbon and Aureliano 2018 for Brazil; McGuire 2020 for Canada). This also applies to the European Union, where EU Directive 2011/24/EU on patient rights in cross-border healthcare came into force in 2013 to facilitate access to safe, high-quality healthcare. Nonetheless, due to “significant and administrative barriers,” the rights of RD patients may be restricted (Lopez Gousset and Bolz-Johnson 2021, 3). In chapter 6, Małgorzata Skweres-Kuchta, an academic and patient organization cofounder and representative, addresses the impact of health emigration on families of children with Batten disease Type 2, known as CLN2 disease, when their home country is unwilling to fund treatment.11 Commonly referred to as childhood dementia, CLN2 disease is among the meager 5 percent of RDs for which effective treatment is available: enzyme replacement therapy, which significantly prolongs the life of affected children, has been available since 2017. However, as an economic commission deemed the price of the necessary drugs too expensive, the Polish Ministry of Health has refused to reimburse the costs of this orphan drug. Drawing from interviews with and surveys among mainly Polish families with children diagnosed with CLN2, Skweres-Kuchta illuminates how this decision coupled with swift disease progression has forced Polish families—as well as families from Romania, Croatia, and Bosnia and Herzegovina—to embark on health emigration to Germany, one of the few EU countries that will reimburse treatment costs. Skweres-Kuchta characterizes relocation to gain access to a lifesaving and/ or life-prolonging drug as forced emigration. She examines the personal and socio-economic challenges that migrating families face, as well as the societal impact of health emigration on the country of origin. Beneficial in the short run to patients receiving medication in another country, to national budgets saving money, and to pharmaceutical companies selling orphan drugs in an economically stable environment, Skweres-Kuchta highlights the deleterious long-term impact of health emigration on families with limited funds, on the development of medical knowledge and expertise, and diagnostic possibilities in the country of origin. In the last chapter of this volume, Jan Frydrych attends to the issue of RDs and disability. While his observations draw from ethnographic data collected

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in Poland, the chronic nature of RDs, their natural progression, and the lack of or limited effectiveness of treatment can produce an imminent or anticipated experience of disability among all those living with an RD (see also the chapters by Chowaniec, Rogalski, and Skweres-Kuchta, this volume). Dialoguing with scholarship in medical anthropology and critical disability studies, Frydrych phenomenologically examines the category of disability through the double lenses of social sciences and the lived experience of people with an RD, while simultaneously reflecting on his positionality as a researcher. Frydrych asks what disability means for the small and understudied group of adults who live with a rare metabolic disease and the parents of children with these conditions and explores the analytical usefulness of the disability category in the study of such diseases. Some anthropologists have emphasized the invisible and episodic nature of disability in rare metabolic diseases (Chowaniec-Rylke 2019). Frydrych agrees that the category of disability in such cases is fluid and escapes the characteristics developed by disability studies scholars; nonetheless, he observes that while neither the adult research participants nor parents of a child with an RD that he meets identify with this category, their lives are significantly different—marked by dietary and social exclusions—from those of their “normal” counterparts. Furthermore, adults and families do apply for disability status certificates. Since rare metabolic diseases are generally invisible when dietary treatment is followed and the medical practitioners who populate decision-making panels are seldom aware of the symptoms of and treatments for RDs, applications for disability status are frequently denied or granted for a few short years. Thus, to secure access to social benefits and the small but necessary payments that a disability status can provide, people with RDs must increasingly engage with the legal system (see also Rogalski, this volume). Anthropologists have analyzed the judicialization of health in a number of areas, including RDs (Biehl 2013; Aureliano and Gibbon 2020); drawing on this scholarship, Frydrych proposes the concept of “judicialization of disability” to capture the practices through which RD patients and/or their caregivers in Poland, alongside lawyers, engage with the legal system to attain disability status. Highlighting the multifaceted and embedded nature of disability in rare metabolic diseases, Frydrych argues that, for his research participants, disability “functions mainly in the context of disability ruling panels, disability certificates, and judicialization.” Our intention with this volume is to draw from current momentum in the proliferating field of RDs and offer a multifaceted, grounded analysis of the experiences of people with RDs and families of children with RDs in a region that often escapes medical anthropological attention. Focusing on Poland and—comparatively—Finland and Sweden, chapters in this volume examine RDs in little-known socio-cultural contexts, especially in the context of chronic and rare diseases. By providing locally grounded case studies,

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Maciejewska-Mroczek, Ewa, Magdalena Radkowska-Walkowicz, and Maria Reimann, eds. 2019. Zespół Turnera. Głosy i Doświadczenia [Turner Syndrome. Voices and Experiences]. Warsaw: Oficyna Naukowa. Manderson, Lenore, and Carolyn Smith-Morris, eds. 2010. Chronic Conditions, Fluid States. Chronicity and the Anthropology of Illness. New Brunswick, NJ: Rutgers University Press. Manderson, Lenore, and Ayo Wahlberg. 2020. “Chronic Living in a Communicable World.” Medical Anthropology 39(5): 428–39, https:​//​doi​.org​/10​.1080​/01459740​ .2020​.1761352. Mattingly, Cheryl, Lone Grøn, and Lotte Meinert. 2011. “Chronic Homework in Emerging Borderlands of Healthcare.” Culture, Medicine, and Psychiatry 35(3): 347–75. https:​//​doi​.org​/10​.1007​/s11013​-011​-9225​-z. McGuire, Marlee. 2020. “Paces of Costly Care: Rare Disease Drug Access in Canada.” Medical Anthropology 39(4): 319–32. https:​//​doi​.org​/10​.1080​/01459740​ .2019​.1573229. Mikami, K. 2020 “Citizens Under the Umbrella: Citizenship Projects and the Development of Genetic Umbrella Organizations in the USA and the UK.” New Genetics and Society 39(2): 148–72. ———. 2019. “Orphans in the Market: The History of Orphan Drug Policy.” Social History of Medicine 32(3): 609–30. Ministry of Social Affairs and Health. 2015. Finland’s National Plan for Rare Diseases 2014–2017. Seering Group Report. Helsinki: Reports and Memorandums of the Ministry of Social Affairs and Health 2015: 43. Available at: http:​//​julkaisut​.valtioneuvosto​.fi​/bitstream​/handle​/10024​/74774​/RAP​%202015​ _43​%20Harvinaiset​%20sairaudet​_englanti​_verkko​.pdf Morel, Thomas, and Stefan J. Cano. 2017. “Measuring What Matters to Rare Disease Patients—Reflections on the Work by the IRDiRC Taskforce on Patient-centered Outcome Measures.” Orphanet. Journal of Rare Diseases 12: 171. DOI 10.1186/s13023-017-0718-x Navne, Laura E., and Mette N. Svendsen. 2022. “De Novo Kin: Sharing Data, Shielding Persons, and Forging Relatedness in Precision Medicine.” Journal of the Royal Anthropological Institute 28(4): 1159–76. https:​//​doi​.org​/10​.1111​ /1467–9655​.13817. Navon, David. 2019. Mobilizing Mutations. Human Genetics in the Age of Patient Advocacy. Chicago: The University of Chicago Press. Norio, Reijo. 2003. “Finnish Disease Heritage I: Characteristics, Causes, Background.” Human Genetics 112: 441–56. Novas, Carlos. 2016. “Patient Activism and Biopolitics: Thinking Through Rare Diseases and Orphan Drugs.” In Biopower. Foucault and Beyond, edited by Vernon W. Cisney and Nicolae Morar, 183–98. Chicago: The University of Chicago Press. Panofsky, Aaron. 2011. “Generating Sociability to Drive Science: Patient Advocacy Organizations and Genetics Research.” Social Studies of Science 41(1): 31– 57. https:​//​doi​.org​/10​.1177​/0306312710385852.

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Wailoo, Keith. 2007. “Inventing the Heterozygote: Molecular Biology, Racial Identity, and the Narratives of Sickle-cell Disease, Tay-Sachs and Cystic Fibrosis.” In Beyond the Body Proper. Reading the Anthropology of Material Life, edited by Margaret Lock and Judith Farquar, 658–71. Durham: Duke University Press. World Health Organization. 2010. Birth Defects—Report of the Secretariat, 3rd World Assembly. Geneva: WHO [online]. Available at: https:​//​apps​.who​.int​/gb​/ ebwha​/pdf​_files​/WHA63​/A63​_10​-en​.pdf (Accessed 21 April 2023).

NOTES 1. More information can be found on the official campaign website: https:​//​www​ .rarediseaseday​.org​/# (Accessed 22 March 2023). 2. An NGO must be registered as a public benefit organization (organizacja pożytku publicznego). Until 2022, taxpayers in Poland were allowed to allocate 1 percent of their taxes to such NGOs. This amount has been raised to 1.5 percent by an act published in the Journal of Law of the Republic of Poland (Dziennik Ustaw Rzeczpospolitej Polskiej) No. 1265 from 15 June 2022. Available at: https:​//​isap​.sejm​.gov​.pl​/isap​ .nsf​/download​.xsp​/WDU20220001265​/O​/D20221265​.pdf (Accessed 21 April 2023). 3. Rajtar’s interview with a Finnish patient organization representative in January 2023. 4. Emotions and affects may play an important part in facilitating biomedical research. For instance, in her study of gynecological cancers in Sweden, Lisa Lindén (2021) has documented how the practices of a patient advocacy organization entangle experiential evidence with affects, such as bereavement, anger, and excitement, to demand more research in the field and to move both biomedical and experiential evidence into the public realm (for a more ambivalent view on the role of emotions in this regard, see Panofsky 2011, 40). 5. The RDI, a global alliance of people living with a rare disease and their families, was launched by Rare Disease National Alliances for the United States, Canada, Japan, Australia, and Russia as well as EURORDIS in 2015. For more information see https:​//​www​.rarediseasesinternational​.org​/ (Accessed 7 April 2023). 6. We are aware that focusing on a few countries around the Baltic Sea region is a geographic and political choice rather than an analytical concept used by anthropologists, but to our knowledge there has been no sustained comparative study of health and illness, and certainly not of RDs, across this region. On medical anthropology in the Nordic countries see Ingstad and Talle (2009); in Finland, see Honkasalo (2009) and Takahashi (2021); and in Poland, see Bartoszko and Penkala-Gawęcka (2011) and Penkala-Gawęcka (2019). 7. The research for and writing of this introduction were made possible by a grant from the National Science Center in Poland (grant no. 2017/26/E/HS3/00291). 8. See Rajtar (2023) for an analysis of small data obtained from RD populations and differences between the Finnish approach to FDH and the Polish approach to LCHAD deficiency, a rare metabolic disease (IMD), which genetic studies have associated with the isolated minority population of Kashubians in Northern Poland.

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9. The term IMDs encompasses a large and diverse group of single-gene diseases. Individually rare, when aggregated their estimated global birth prevalence is 50.9 in 100,000 live births. Two of the most common IMDs are MCAD (medium-chain Acyl-coA dehydrogenase) deficiency and phenylketonuria (PKU) (Pugliese et al. 2020). 10. Foods for special medical purposes (FSMP) are used in dietary treatment of patients for whom “normal” foods cannot fulfill their nutritional requirements and are to be used under medical supervision. In Europe, FSMP are subject to detailed regulations that scrutinize their composition and labelling. The FSMP market is dominated by a few global companies, such as Nutricia (a Danone brand) and Vitaflo (acquired by Nestlé in 2010), based, respectively, in the Netherlands and the UK. 11. A neurodegenerative lysosomal storage disease, CLN2 disease comes under the umbrella of Neuronal Ceroid Lipofuscinoses, collectively referred to as Batten disease. It is extremely rare and predominantly appears in childhood. Without treatment, a child’s life expectancy is eight to twelve years. Among the estimated forty to fifty Polish families with a child diagnosed with CLN2, thirty-two have emigrated to Germany.

Chapter 1

Matriarchal Management, Expert Caregiving, and Intensive Mothering among Mothers of Children with Phenylketonuria Anna Chowaniec

While the discovery of phenylketonuria (PKU) is significant for the history of medicine and the politics of population screening for rare diseases (Brosco and Paul 2013; Paul 1994), the history of PKU is a tale of maternal determination. The story of Liv and Dag Egeland and Sheila Jones, together with their mothers and the doctors and scientists who cared for them, has changed the lives of thousands of people suffering from PKU and, indirectly, other rare diseases. ‌‌The medical history of PKU started at the University Hospital in Oslo in 1934, when Borgny Egeland, mother of two children with intellectual disabilities, Liv and Dag, contacted Dr. Asbjørn Følling (Brosco and Paul 2013, 10–22). Despite asking many doctors for help, no one had yet been able to explain her children’s conditions. At the age of six and a half, Liv could only pronounce a few words and her movements were uncoordinated and spasmodic; her four-year-old brother neither spoke nor walked and was unable to eat or drink by himself. Borgny had noted that her children’s urine had a strange smell, and it was perhaps this that convinced Dr. Følling it was the children’s bodies, not their minds alone, that were functioning incorrectly. Dr. Følling’s research indicated that the urine contained phenyl pyruvic acid, a phenomenon that had not been previously observed and thus indicated an unidentified disease (Brosco and Paul 2013, 12). A test of 430 samples from people with intellectual disabilities living in various care institutions revealed eight similar results. These individuals not only had fair complexions 21

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and eczema like Liv and Dag, they also had difficulty walking. In 1934, Dr. Følling published his results and announced his identification of a new disease: imbecillitas phenylpyruvica (Brosco and Paul 2013, 14). However, it would be quite some time before an effective therapy would be discovered. In 1949, the German doctor Horst Bickel started work at the Children’s Hospital in Birmingham. Bickel and his colleagues opened a special clinic for children with cognitive challenges, where they began research into the metabolic causes of intellectual disability and new methods for detecting phenyl pyruvic acid. The second sample taken from a clinic patient indicated the presence of this acid. This belonged to the two-year-old Sheila Jones, brought to the clinic by her concerned mother, Mary. Sheila had not developed properly, could not speak or sit unaided, and did not make eye contact. Dr. Bickel developed a special dietary treatment for Sheila that excluded proteins and provided the essential amino acids, minus phenylalanine, in a special formula. Her condition gradually began to improve: Sheila took her first steps and began to establish contact with her environment. To check Dr. Bickel’s assumptions, Sheila was reintroduced to a “normal” diet without her mother’s knowledge and began to experience negative symptoms after a few days: she stopped walking, her eyesight no longer followed objects, her hair became coarse, a rash appeared on her skin, and she started to cry in the previously characteristic bitter manner. Sheila Jones was the first child to be successfully, albeit temporarily, treated for PKU. Unfortunately, the diet was introduced too late and for too short a time. Sheila was treated between the ages of two and six, and at the time of her death in 1999, was experiencing severe disabilities, could not speak, and lived in a psychiatric institution (Green 2020). The development of new technologies and introduction of widespread newborn screening programs (NBSs), of which PKU was the forerunner, has made it feasible to diagnose illnesses and take medical action before any health-endangering symptoms appear. The importance of NBSs was highlighted as early as 1968, when, in a publication for WHO, Wilson and Jungner defined the ten principles of screening that laid the foundation for scientific, social, and ethical debate about the benefits, harm, and costs of screening programs (WHO 2020). Screening for PKU is the most prevalent NBS across the world, making it an exceptional example with which to explore both the far-reaching and small-scale consequences of screening programs. This chapter adds a Polish context to this discussion. There have been few anthropological studies of caring for patients with rare diseases, including PKU (e.g., von der Lippe et al. 2017). Hence, this chapter also contributes to broadening this field of research, above all by drawing attention to the local, Polish context in which care is gendered and systemic solutions are inadequate.



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Like many other chronic rare diseases, PKU does not follow the simple symptom-diagnosis-treatment-health pattern (Bury 1982; Frake 1998; Garro 1992). Diagnosis is often merely the beginning of an indefinite journey in disease management; an introduction to a biomedical world that will henceforth structure many elements of day-to-day life (Jutel 2011, 2018). The patient will never fully recover: the genetic mutation that causes PKU will not disappear, yet symptoms may become less severe with age. Also, unlike many other diseases or conditions, therapy “happens” at home. This crucial distinction has the greatest influence on family experience. Although doctors and dietitians are responsible for tracking dietary progress and possible deviations from the norm (i.e., toxic levels of Phe in the blood), it is solely the responsibility of caregivers to manage therapy requirements. In this situation, doctors—unable to provide treatment for children with PKU—become advisers to parents. In this chapter, I argue that mothers of children with PKU in Poland have had to develop their own, resilient responses to this “biographical disruption” (Bury 1982): the diagnosis of their children with a chronic, incurable, and demanding disease. Their roles are not always acknowledged by individuals or institutions such as extended family and/or daycare workers, who do not share the experience of living with PKU. So characteristic of PKU narratives, a mother’s determination to maintain her expert, managerial and caregiving roles has a direct impact on treatment success. The issues raised are situated here in a broader discussion of the role of the caregiver in the process of chronic disease management, as well as the unpaid work of caregivers and resilient coping strategies for dealing with the unexpected diagnosis of a rare disease. These caring activities, analyzed within anthropological research as unpaid and devalued, prove to be an expert-level performance. This chapter will also address a Polish context in which a PKU diagnosis and dietary treatment are not legally recognized as sufficient reason to provide systemic financial and/or social support, and a gendered primary caregiver role is still present (see Frydrych, this volume). In the following, I discuss my fieldwork, the biomedical characteristics of PKU and its symptoms, current therapeutic management, and the importance of PKU in the development of NBSs. I will then explore the resilience of mothers caring for children with complex health needs, the adversities they face and their roles as expert caregivers in the “chronic homework” associated with restricted dietary treatment.

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THE RESEARCH FIELD This research and the ideas I introduce in this chapter are grounded in an ethnographic study I conducted with Polish families of children with PKU and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), another rare metabolic disorder treated with a restricted diet. Within the well-established field of qualitative research on health and healthcare issues (Giacomini and Cook 2000; Good 1994; Pope 2000), ethnographic research has a particular advantage: it allows the researcher to reconstruct what patients, their caregivers, doctors, and others think about the disease and treatment in real time. Due to rapidly changing medical landscapes, genetic developments (Beeson 1997) produce “increasingly complex areas” in need of understanding (Pope and Mays 1995, 42), and merit ethnographic attention. Such real-time study of people undergoing treatment enables researchers to identify and examine interactions, whether at home, workshops and conferences, or the hospital. I decided to take a broad approach to the study of rare inborn metabolic disorders.1 Starting with the child’s closest circle, particularly their parents and siblings, those involved in managing the child’s condition on a day-to-day basis, I then expanded my area of interest by drawing ever-increasing circles around the affected child. These circles gradually included medical professionals, dieticians, media coverage on rare diseases, people with disabilities, and an internet discourse aimed at patients themselves as well as a public audience. My methods, therefore, were interwoven and formed a set of adopted techniques rather than a single, coherent way to attain the results I desired (Atkinson et al. 2008; Pink et al. 2010). The families of PKU/ LCHADD patients, however, remained at the center. Conducted between 2016 and 2019, this study involved thirty-one people with IEMs, eleven of whom were diagnosed with PKU.2 My conclusions are also derived from research with families of LCHADD patients, as experiences and treatment were highly similar. I primarily interviewed the mothers of patients, as the main caregivers and decision-makers in therapy. Although I chose not to conduct research directly with the children, they were invited to participate if they and their parents so wished.3 I also interviewed doctors, dieticians, and geneticists who specialize in metabolic disorders and are involved in the lives of children with PKU. Participant observation played a major role in my research. As our meetings mainly took place in the family homes of children with PKU, I was able to observe the children’s interactions in their everyday environments and the spaces where therapy took place, as well as accompany families on errands and hospital visits.



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Attending conferences and events for doctors and patients was a useful way of learning about the Polish context of rare diseases, including IEMs. I participated in several national and local events, including official Rare Disease Day celebrations,4 scientific conferences for doctors, and workshops for families. I also followed discourses on rare diseases and disabilities in the Polish media. Additionally, and very importantly for my research, I followed Facebook groups for IEM patients and their caregivers.5 PKU CAUSES AND SYMPTOMS A rare IEM in which the processing of phenylalanine is disturbed, PKU is a disorder in production of the enzyme phenylalanine hydroxylase (PAH), necessary for conversion of the amino acid phenylalanine into tyrosine (Żółkowska et al. 2018). As the liver of a person affected by PKU does not produce enough PAH, toxic amounts of phenylalanine appear in the blood (National PKU Alliance 2012, 3). This can cross the blood-brain barrier and block the brain’s ability to absorb other amino acids, including tyrosine (Weglage et al. 2002).6 A high level of phenylalanine in the blood causes changes in the white matter of the brain, slowing information flow between neurons and decreasing dopamine levels (National PKU Alliance 2012, 4). Untreated, PKU is a neurodegenerative disease that causes severe intellectual disability, mood disorders, deterioration of cognitive functions, and loss of motor function in the most severe cases (National PKU Alliance 2012, 9–12). As a genetic disorder, PKU is inherited in an autosomal recessive pattern. By 2016, more than 950 mutations responsible for abnormal production of the PAH enzyme had been discovered (Blau 2016), a number that is still increasing. These mutations are often specific to a given population. Despite the mutation most often found in Polish patients being that which causes the classic, most severe form of phenylketonuria, there is currently no official national register of people suffering from PKU.7 Globally, the condition affects an average of one in 10,000 births,8 but there are significant variations between populations: Japan has a prevalence of about one in 125,000, Finland one in 200,000, and Turkey one in 2,600 (El-Metwally et al. 2018). In Poland, the incidence is estimated to be about one in 7,000 to 8,000 births,9 suggesting there are currently between 4,000 and 5,000 people affected by PKU. This disease is considered rare. Commonly used definitions of rare diseases are based virtually exclusively on frequency of occurrence. Thus, in the European Union (EU), a disease is defined as rare if it affects less than five in 10,000 people (European Parliament and Council 1999), in the United States as one that affects less than 200,000 people (Rare Disease Act 2002) and in Japan less than 50,000 people (Hayashi and Umeda 2008). The EU definition

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was adopted by the Polish Plan for Rare Diseases, a comprehensive model of care for patients with rare diseases implemented in 2021. At the same time, although PKU is a rare disease, it is also the most frequently diagnosed rare condition in the Polish NBS program.10 TREATMENT AND THE IMPORTANCE OF NBSS The case of Sheila Jones provided invaluable knowledge for the field of PKU therapy. Firstly, doctors learned that therapy should be introduced as early as possible and continued for far longer than previously anticipated. Secondly, and most importantly, they were now aware that a diet based on low-protein products and a special “protein substitute” formula could effectively prevent deterioration. Therefore, PKU dietary management requires a limited intake of phenylalanine and administering of a special formula to reduce deficits of other amino acids. This is particularly important for children under twelve years of age (Wegberg et al. 2017). To maintain the required level of phenylalanine in the blood, three main guidelines must be followed: 1) eat low phenylalanine (low-protein) foods; 2) take the amino-acids supplement; 3) control phenylalanine levels by sending blood samples for analysis one to four times a month, depending on age. Foods low in phenylalanine are mainly fruits, vegetables (excluding legumes), and specially made low-Phe foods such as flour, pasta, and cookies. Meat, dairy products, grain-flour bread, and many other products are prohibited.11 Consideration should also be given to maintaining adequate caloric intake; if catabolism—the body “eating” its muscles due to insufficient calories—occurs, levels of phenylalanine will increase. As each patient’s body functions differently, multiple blood tests are required to determine the appropriate amount of Phe and the diet will be more restrictive for some patients than others. What is more, as phenylalanine levels can fluctuate spontaneously in relation to the growth process, especially in the early years, the diet requires constant monitoring and modification. Maintaining a balance between phenylalanine and calorific intake does not always ensure adequate Phe blood levels, as factors such as teething and infection can have an effect. Hence, frequent analysis of blood samples is required and the diet must be adjusted accordingly. Evidently, it is important for either the person with PKU or their caregiver to take responsibility for maintaining proper Phe levels through diligent food preparation and monitoring of Phe intake. Therapy cannot be successful if one of the elements is absent; without special food, Phe levels in the blood will be detrimentally high, and without the special formula, the body cannot function correctly for lack of other necessary amino acids.



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As the case of Sheila Jones had demonstrated, only early and long-term incorporation of dietary therapy can prevent the onset of disease symptoms. When Dr. Bickel and his team decided therapy should be introduced as early as possible, ideally before the age of three weeks, the question arose of how to “catch” PKU before the onset of symptoms. This initiated research into the first NBS, the idea of which has been now adopted worldwide. The first widely used blood test for PKU was developed in the 1960s by Dr. Robert Guthrie and the first nationwide PKU testing program was introduced in the United States during the 1960s.12 By the end of the 1980s, screening for PKU was being conducted on all children born in Poland (Ministry of Health 2017). New technologies have since emerged enabling the detection of multiple disorders from one blood sample, now taken from a newborn’s heel. Tandem mass spectrometry (MS/MS) can detect elevated levels of many substances in a newborn’s blood, and an NBS program for IEMs, including phenylketonuria, was launched in Poland using this technology in 2009 (Ołtarzewski 2018). Samples taken from almost all Polish newborns are currently tested for twenty-nine inborn diseases, including cystic fibrosis, congenital hypothyroidism, congenital adrenal hyperplasia, organic acidurias, and fatty acid oxidation disorders (Ministry of Health 2017). With the introduction of NBS programs it has become possible to detect diseases and medically intervene before life- and health-threatening symptoms appear. Thanks to this technology, all the families I met received the diagnosis as early as possible, giving their children a chance for uninterrupted development. CARE FOR CHILDREN WITH PKU IN THE POLISH CONTEXT Given the burden that PKU therapy places on families it is important to investigate the engagement of state and health institutions in their situation. As Huyard (2009) has noted, rare diseases are a concept that can be unifying while at the same time consisting of multiple elements, adapted to local situations. For many groups, “rare disease” is not a useful concept, as it provides no specific practical meaning: for example, to lawmakers the term refers to a multitude of needs and the simultaneous challenge to create a comprehensive support system (Huyard 2009, 463). At the same time, adopting the biosocial identity of a “rare disease patient” (Callon and Rabeharisoa 2003; Gibbon and Novas 2008; Rabinow 2005; Raz et al. 2018) helps many people find a community who, despite a variety of symptoms, have the similar experiences of systemic invisibility, exclusion, and insufficient support (e.g., Chowaniec-Rylke 2019).13

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The situation of Polish patients with PKU confirms Huyard’s observation. There are no comprehensive solutions in Poland for either PKU patients or their caregivers that would simultaneously provide support in the three fundamental principles of PKU therapy.14 Special medical foods, such as Phe-free flour, pasta, and bread are not subsidized by the Polish state. These products are also far more expensive than products containing phenylalanine: the low-protein diet of a child with PKU is on average almost 50 percent more expensive than the balanced diet of a healthy peer (Chyż and Hozyasz 2018). The cost of many PKU formulas available in the EU is reimbursed—PLN 3,20 or less than 1 EUR for thirty portions15—but choice is limited.16 In the following, I investigate how the mothers I met engage with the biomedical and welfare system and illustrate the resilience and agency they demonstrate to meet the required therapeutic goals. COMPLEXITY AND RESILIENCE IN PKU CARE Within the families I met, food preparation was strongly influenced by beliefs and practices regarding the gendered division of household labor, a division intensely shaped by the Polish socio-cultural context. In this sense, the mother of a child with PKU not only belongs to the home and care sphere but also takes on management tasks. This has been influenced by the traditional Polish patterns of motherhood and womanhood (Czopek 2018; Kościańska 2012; Titkow 2007; Titkow et al. 2004). In Poland, as Zofia Boni (2012, 2016) has pointed out, it is generally assumed that feeding is women’s work and that women are “natural” feeders. It became very apparent during my research that caring duties were almost exclusively a mother’s domain. While fathers accompanied mothers and children to hospital, were present at the time of diagnosis, and often attended workshops for families of PKU children, duties relating to the daily routine were generally assigned to mothers.17 It was primarily mothers who prepared meals for their children and other household members. Cooking was seen as almost exclusively part of unpaid, caring, domestic work: work that is often undervalued and places a significant burden on women (e.g., Bowen et al. 2014; Miranda 2011; Sayer 2005). In this situation however, there is a paradoxical combination of two dimensions of cooking: a routine, domestic activity and an expression of expert knowledge and skill. Before I describe the roles undertaken by these mothers, I will break down the elements of care for a child with PKU. Firstly, and most importantly in this context, dietary treatment is a special form of therapy (see Król and Ehmke, this volume). Only with an in-depth understanding of the principles



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of the treatment and the ability to adapt each meal to the diet, serve it promptly, and ensure that it is eaten will treatment be successful. It is also worth noting that maintaining a diet is not only about preparing and serving meals, it also involves numerous actors and actions. Firstly, doctors draft the guidelines: numerical representations of the amount of certain substances or energy that must be supplied each day. Then, mothers translate these numbers into specific meals/products. Not only are these translations to be conducted daily, mothers must also search for special products and/or recipes. This can take time, with some products needing to be ordered and delivered. Finally, they must check if the caloric and Phe quotas for the day have been met and, if necessary, correct the daily intake by providing supplementary food. These characteristics of PKU management illustrate the complexity of the caregiver role. Although the child is under constant medical supervision, as highlighted earlier, it is a caregiver’s responsibility to understand and provide treatment. This establishes the conditions for “chronic homework” (Mattingly et al. 2011): according to Mattingly and her colleagues, this is the “kind of work that patients and families are expected to carry out in their home contexts in the treatment of their chronic conditions” (2011, 348). The “chronic homework” carried out by family members includes duties such as preparing meals, administering medications, and being alert for symptoms of a condition escalating. Mothers and caregivers spend time learning how to perform these various tasks from clinical specialists and are expected to update doctors on progression of the condition. Resilience, a term that structures the lives of families of children with chronic disease and the roles that mothers play, is a common factor. The term has its roots in the natural sciences, used to describe the properties of a material that recovers its original shape after bending under pressure (Norris et al. 2008). Subsequently, its meaning expanded to include the resiliency of ecosystems (Holling 1973) and the adaptive capacity of groups and individuals (e.g., Rutter 1993; Barrios 2014). Noting both the evolution of the term, used to describe more and more new situations, but also appreciating criticism of its use,18 the application of resilience in the context of rare disease experiences can provide new avenues for interpretation, such as, for example, Król and Rajtar’s discussion of the resilience practices of rare metabolic diseases patients and their families in the COVID-19 pandemic (Król and Rajtar 2022). The families I studied did not use “resilient” to describe themselves, partly because there is no equivalent term in Polish, but mainly because it is not part of their vocabulary. Rather, they spoke of “doing what’s best for the child”: their care practices were directed to ensuring the desired outcome in terms of both health and the balanced, harmonious development of their child. The practices I describe below are the direct result of mothers’ resilience in the face of adversity (Windle 2010). Unlike resilience as a personal,

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individual trait (Windle 2010, 156), in families of children with PKU it can be understood as a “dynamic process encompassing positive adaptation within the context of significant adversity” (Windle 2010, 157). As Mattingly has pointed out (2016, 38), in families of children with significant disabilities and medical vulnerabilities, caregivers “attempt to create greater resilience in their families and communities despite barriers and vulnerabilities.” As she illustrates in African American families with medically vulnerable children, “a picture of well-being or resilience [is] less a stable achievement or state of being—something one has or lacks—so much as an ongoing practice . . . where the very criteria defining well-being can have very family-specific meanings, may not be shared among all family members, and may shift over time” (Mattingly 2016, 39). I argue that in the Polish context, resilience is a process in which caregiving mothers develop new techniques, narratives, and practices intended to ensure the best possible caring environment for their children. Resilience in the context of Polish families of children with PKU may, therefore, be understood as the ability to cope with and adapt to unexpected and multidimensional challenges with resourcefulness, while continually prioritizing the child’s health. MOTHERS AS EXPERTS, MANAGERS, AND CARERS: THE INTENSIVE MOTHERING OF PKU CHILDREN Mother-Expert From the perspective of mothers and metabolic doctors who care for children with PKU that I met, there was no doubt that maintenance of the correct diet resulted from an expert level of knowledge and skill, obtained by a mother during the early years of her child’s life, when under particularly intense medical surveillance. Internalizing and understanding the course of the disease through repeated explanations of the biochemical basis of PKU in a few specialized hospitals19 or workshop settings, convinced mothers of the necessity of dietary requirements for their children’s uninterrupted development. As Webster and Gabe have suggested in their research on children undergoing a therapeutic ketogenic diet, mothers draw on the meanings attached to food to manage their expert identities and through this process come to view food as medicine (Webster and Gabe 2016). During “diagnostic work” (WiteskaMłynarczyk 2019), mothers are included in the expert biomedical world as caregivers. Understanding therapy involves efficient navigation of medical terms and the biochemistry of disease. This does not mean, however, that other people or institutions involved in a child’s life share similar views: they



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may, for example, question the legitimacy or restrictiveness of therapy. Confident in the benefits of dietary therapy for their children, the mothers I met were concerned that others, such as kindergarten and school staff, grandparents, and other relatives, might not understand its importance and could therefore cause psychological discomfort, even harm to their child. Thus, the mothers viewed people who did not share their concerns about the importance of diet as a potential threat to their children’s well-being. While safe zones in which a child’s treatment will be uninterrupted by the presence of forbidden foods had their own clearly defined boundaries, unsafe spaces were both spatial and relational. These could include a school where teachers were not following dietary guidelines and family gatherings at which the child was offered forbidden food. It might be assumed that zones with a greater risk were those where the experts—mothers and doctors—were not present, but this was not always the case: as I will discuss later, there were cases of hospital staff providing children with the wrong food. Such threats to a child’s health can be understood by considering the visibility of the disease and the cultural and social expectations of a sick person. As an invisible disease, PKU does not cause easily identifiable visual clues.20 Certain chronic diseases, including PKU, are characterized by an episodic and invisible nature (e.g., Lightman et al. 2009; Vickers 1997): they do not follow the typical disease trajectory from warning signs, exacerbation, recovery, and full recovery. Thanks to NBS, it is possible to diagnose an apparently “healthy” newborn before the onset of symptoms. Hence, doctors must make significant effort to convince parents their child is sick and a restricted diet is necessary. Other people who interacted with the child had not come into contact with the authority of experts—the impact of a doctor’s authority cannot be overestimated here (e.g., Fainzang 2018; Jutel and Nettleton 2011)—and not undergone this experience. Therefore, certain situations were a challenge for parents, especially mothers. Ela,21 who I met at a workshop for PKU families and whose two young children had been diagnosed with PKU via NBS, experienced such a situation. One of her children, then a kindergartner, was taken into the local hospital due to stomach flu. Ela attempted to explain his dietary requirements: Doctor, head of the ward. I tell her that the child has phenylketonuria, so of course “How do we know?,” I say we know from screening. And I say that he cannot eat this and that. “Oh no, please don’t tell me, I know.” Well, she wrote this meal plan, it was supposed to be fine. The next day she comes: “You know what, I didn’t know what to write, I wrote a dairy-free diet,” and he got normal bread, he got ham for breakfast.

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Ela then summarized other experiences with local doctors. Living with her family in a small village in central Poland, she noted the difference between experts from specialized hospitals working with her and her children, and doctors from the nearest town: There are a lot of such local doctors here, [they think] “phenylketonuria, well, well, he can’t eat protein, so he has an allergy” . . . this protein allergy, as they used to call it. We say no, that it is not a protein allergy, but simply: he cannot eat this, this, and this, because if he eats it, he will become disabled. We do not say intellectually [disabled], because not everyone will understand it, we say that he will be so disabled that it can be seen with the naked eye.22 “So what is he going to eat?!”

These actions were not only potentially but practically harmful to Ela’s son. The situation was eventually resolved when nurses gave the family some fruit and vegetable baby foods. Ela’s expert knowledge had not been appreciated by the doctor in charge of the ward, who believed she had entered the field of her authority. This correlates with the findings of Balling and McCubbin that parents of chronically ill children felt their child received a higher quality of care at home than in hospital (Balling and McCubbin 2001, 117). Similarly, the extended family may not acknowledge the diagnosis and treatment, either due to the information being delivered by a caregiver rather than an expert, or the invisibility of the disease. The child, at the time of NBS diagnosis, becomes a “patient without symptoms” (Finkler 2000; Timmermans and Buchbinder 2010), requiring medical attention despite the disease being not only invisible but also asymptomatic. Ela also experienced this situation, when her in-laws contested the diagnosis based on the invisibility of symptoms: it was hard for my mother-in-law, that he had the disease, it made her speechless, she didn’t say anything, at first, but later, “Give it a try, because maybe they got it wrong, let him try [meat].” I say no, you can’t, and when we go to our in-laws, we generally don’t talk too much about the disease, because when I say that Paweł has had good results for six months, she says “Give it a try, because maybe it came out of him.”

Members of some of the families I met openly discriminated against a child’s special diet. They would not offer to prepare anything the child could eat for family gatherings,23 and would occasionally leave a child with PKU out of activities organized for the other children. Patrycja, a mother of two children with PKU, experienced such hostility. Her family’s failure to acknowledge that her children were diagnosed with PKU caused her sadness, regret, and anger:



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Nobody [from the family] will ask, as if there was no issue at all. . . . And here you know . . . always . . . as I say, he is already eight years old [son with PKU] and it’s not that you just found out yesterday or you forgot, or something like that. And everyone pretends to be surprised as if they heard about it for the first time. And the effect is that we’re visiting and I already know, I don’t want to be rude, but as I said, eight years isn’t even funny anymore, it’s just embarrassing when you hear: “What, he can’t eat meat either? But we have turkey fillet.” Come on now . . . [my husband] has always been calmer in such situations, but for me—my blood is boiling.

The conversations that Ela and Patrycja had with their families indicate that acknowledgment of the diagnosis, diet, and doctor’s authority is highly significant, especially when the disease is “invisible” (Dew and Jutel Goldstein 2014). As the diagnostic work that included mothers in the world of biomedicine had not been performed on extended family members (WiteskaMłynarczyk 2019), they may have a harder time accepting a diagnosis not preceded by symptoms. The messengers of NBS results were the mothers themselves, deprived of medical authority. While a specialist doctor’s authority was sufficient for parents at the initial stage of diagnosis, the extended family had no such trust. Ela’s situation indicates that the local hospital doctor did not want the parent to enter the framework of biomedical and professional expertise. Such tension that arises from a refusal to accept a mother’s intervention has been described by Kirk and Glendinning in their study of the lay expertise of parents of children with complex health care needs: “‘experts’ who failed to acknowledge their [parental] expertise or who questioned their [parental] judgment about the child’s need for treatment caused parents anger and distress, not least because of the potentially serious consequences for the child’s condition” (Kirk and Glendinning 2002, 634). Intensive Mothering of PKU Children Creating a space that is safe for a child but also allows harmonious development is a highly difficult and often emotionally exhausting task. The actions of the mothers I met were always balanced on a fine line, dividing several different realities that had to be reconciled: expert knowledge about the disease and treatment, plus the desire to provide a child with love and attention. The core priority was to create a sense of acceptance and non-discrimination. Thus, situations such as those mentioned by Patrycja were avoided, and attempts were made to create alternative options, such as preparing dishes and sweets suitable for children with PKU for family gatherings and birthday parties.

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As Webster (2018) indicates in her work on families of children on a medically recommended ketogenic diet, by viewing themselves as experts, mothers can come to terms with their guilt and insecurity: acting as both a loving mother and an expert, they can avoid blaming themselves for the need to place restrictions on their child’s life and at times confront individuals involved in family life. Although the ketogenic diet is very different, it is also highly restrictive, and in the words of Webster, such situations require “intensive mothering” (Hays 1996, 8): that is, child-centered, expert-led, emotionally absorbing, labor-intensive, costly, and demanding tasks such as preparing food that are related to the gendered, stereotypical female sphere (Webster 2018, 197–99). As Webster aptly phrased it, “the sacrifices mothers were making in terms of the physical, mental and emotional labor that went into implementing the diet resulted in improvement in the child’s health and well-being. Consequently . . . caring expertise directly impacted on mothering identity, as this helped mothers to overcome some of the negative emotions” (2018, 203). The expert identity of mothers, rooted in the internalized belief they are doing the right thing for their children, enabled them to face the adversities of therapy, especially when their expert knowledge was confronted with the hierarchy of medical authority. It was also a source of much-needed confidence when encountering the welfare system. Mother-Manager, Mother-Carer Closely connected to the expert identity of mothers of children with PKU was the role of mother-manager, demonstrated using two different meanings of the managerial role: as a representative of the best interests of her child (Kubicki 2015) when confronting social welfare institutions, and as an irreplaceable manager of family life, simultaneously performing many tasks (Titkow 2007). The term matriarchal management, as used by Anna Titkow (2007), is strongly associated with the complex history of Poland, especially during the Polish People’s Republic (1944–1989). This history has created models of femininity and motherhood that shape the lives of modern mothers with medically-vulnerable children. Polish society presents a common belief that caring for a child is primarily a maternal duty that it is intricately linked to love (Titkow et al. 2004, 230–32). Expectations of mothers—then and now in the context of PKU—contributed to the creation of a “prototype of the superwomen, which is functioning to this day in the sphere of attitudes and behaviors, or the ‘social genotype’ of the model of a woman as a person who can meet the most difficult requirements posed by social reality” (Titkow 2012, 30). For the mother of a child with PKU, caring responsibilities have assumed a far greater scope of obligations than in “normal” motherhood.



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The fathers I met, usually providers for their families, had limited parental duties: although involved in the medical side of diagnosis and treatment, they did not have responsibility for foodwork. My research did not reveal a clear reason as to why such a decision had been made regarding gender role division, but it was present in all the families of children with PKU that I met, and can be found in the broader context of gender role division in Polish society.24 This division, resulting from historically grounded images of femininity and motherhood, has placed on these mothers the responsibility of becoming “superwoman” and providing stereotypically female care work, in this case expert care. Although other family members, such as grandparents and aunts, were at times involved in caring for the child and preparing meals, it was still the mother who exercised primary supervision over the therapy by reporting on what and how much the child ate during the day. The main reasons for a lack of paternal involvement that emerged during my research were not always explicit, but related to a fear of making dietary mistakes and a perceived lack of practical skills among fathers. This was highlighted by Ola, whose child was two and a half years old: “I’ll tell you this, I get up in the morning, I’ve made a rule for myself that I’m generally on my own with this. My husband gets involved very little, because he probably, I mean . . . I’m afraid too, but he still maybe wants to help me with it too, but he doesn’t know how, he’s afraid of everything.” Expert caring responsibilities require time and energy. The issues I have referred to—resilience, expert caregiving, and the gender stereotype of an irreplaceable mother—are combined in the topic of unpaid care work (Budlender 2010). These duties were never fully taken on by the father, relatives, the school/kindergarten, or the hospital. The mother’s caring work was necessary and irreplaceable, but not systematically paid, positioning the issue of expert caregiving within a larger debate on unpaid care work and the gender pay gap (e.g., Folbre 2006; especially during the COVID-19 pandemic, e.g., Power 2020). The situation in which therapy takes place at home and, as it involves food preparation, belongs to the female sphere, led to tense situations in the families of children with PKU in my research. For this reason, some of the families I interviewed had decided to apply for disability benefits (see Frydrych, this volume). In these instances, mothers would become full-time caregivers for their children. However, this often meant abandoning a professional career and a long, often distressing process of applying for support. To receive a higher, though still very low, level of financial support required presenting the child as extremely sick, disabled, and in need of constant care.25 This often chosen solution was a display of maternal resilience, a way of creating the optimal conditions for the child. Once a status of “severe disability” was granted, mothers had the opportunity to leave employment and receive inadequate—amounting to less than

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the minimum wage—yet stable financial support.26 In this process, mothers become mother-managers, whose job is to protect the child’s best interest in encounters with state institutions (Kubicki 2015). Although the mothers did not necessarily consider their children to be disabled (for more on this complex issue, see Chowaniec-Rylke 2018a, 2018b, 2019), this was the only way they could receive payment for their full-time expert caring. As described by Ryan and Runswick-Cole, mothers of disabled children having to deal with state disability politics enter “liminal disability,” being neither disabled nor able-bodied (Ryan and Runswick-Cole 2008, Runswick-Cole and Ryan 2019). Acceptance of such a solution resulted from mothers knowing their efforts were needed to manage their children’s diets and lives. For the legal guardian of a child with disability receiving financial support, diet management becomes a paid occupation. Looking after and cooking for a child with PKU was understood by the mothers I interviewed as expert caregiving work. However, such a social perception of paid care work was also accompanied by the difficulty of securing the status of “severe disability,” primarily related to the invisibility of PKU (see Chowaniec-Rylke 2018a, 2018b, 2019) and the lack of medical expertise on rare diseases in general. The situation of caregivers for children with PKU also draws attention to the practical and relational nature of these care practices. Care is not an abstract concept: rather, it is a relational and affective practice that is also tangible, real, and enacted; a practice that takes a toll on a caregiver’s body, mind and well-being (Buch 2013). As such, it is entangled with the local context, in this case that of Poland, and must be examined within that context (Warren and Sakellariou 2020). To withstand their situation and provide the best caring practices, the mothers I interviewed had to be certain they were experts in managing the required treatment and knew what was best for their children. This internal reassurance stemming from the internalized roles of expert caregivers and life/therapy managers enabled the mothers to enforce the best outcomes for their children, even when encountering obstacles and opposing values, and even when it required them to present their children as severely disabled. CONCLUSIONS From the very beginning, the history of PKU has been associated with strong female figures, mothers who, when they felt, sensed, and observed that something was wrong with their children, sought the best possible care. The success of therapy for PKU, as well as for other similar IEMs such as LCHADD, depends on two factors: biomedicine, which provides rapid detection of the disease through NBS and the introduction of dietary treatment based on



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specific guidelines; and a mother’s resilient, expert, managerial caregiving. For this process to be successful, several things must happen. First, a mother has to trust the authority of a doctor diagnosing a “healthy-looking” baby and enter the world of biomedicine. Second, the mother must undergo “diagnostic work” to internalize and understand the complexities of the disease to undertake biomedically supported “chronic homework.” Third, thanks to acquisition of this knowledge, its interpretation, and the ability to introduce it into the everyday life of a child, they become both expert caregivers and mother managers, roles they must adopt to successfully conduct the treatment for which they are solely responsible. Finally, the mother of a child with PKU must show resilience in the face of adversities generated by caring for children with complex health needs. Only a firm belief that they are irreplaceable experts in disease management enables them to oppose sociocultural assumptions about gender roles, house and care work, and medical authority. This article provides an additional perspective to the debate on NBS and rare diseases by exploring the narratives of mothers of children with PKU and highlighting the challenges they face adapting to their new roles as expert caregivers and treatment managers. My research presents a unique insight into the impact of NBS on families and the resilience they exhibit when confronted with a life-changing diagnosis. REFERENCES Announcement of the Minister of Labor and Social Policy of July 8, 2015, on the announcement of the unified text of the Regulation of the Minister of Economy, Labor and Social Policy on disability adjudication and degree of disability, Dz.U. 2015 item 1110. Atkinson, Paul, Sara Delamont, and William Housley. 2008. Contours of Culture: Complex Ethnography and the Ethnography of Complexity. Walnut Creek, CA: Altamira Press. Balling, Karla, and Marilyn McCubbin. 2001. “Hospitalized Children with Chronic Illness: Parental Caregiving Needs and Valuing Parental Expertise.” Journal of Pediatric Nursing 16 (2): 110–19. https:​//​doi​.org​/10​.1053​/jpdn​.2001​.23157. Barrios, Roberto E. 2014. “‘Here, I’m Not at Ease’: Anthropological Perspectives on Community Resilience.” Disasters 38 (2): 329–50. https:​//​doi​.org​/10​.1111​/disa​ .12044. Beeson, Diane. 1997. “Nuance, Complexity, and Context: Qualitative Methods in Genetic Counseling Research.” Journal of Genetic Counseling 6 (1): 21–43. https:​ //​doi​.org​/10​.1023​/a:​1025659701805. Blau, Nenad. 2016. “Genetics of Phenylketonuria: Then and Now.” Human Mutation 37 (6): 508–15. https:​//​doi​.org​/10​.1002​/humu​.22980. Boni, Zofia. 2012. “Czekając na męża z obiadem.” Op.Cit. 43: 100–103.

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Molecular Genetics & Genomic Medicine 5 (Suppl 3.): 1–16. http:​//​doi​.org​/10​ .1002​/mgg3​.315 Vickers, Margaret H. 1997. “Life at Work with ‘Invisible’ Chronic Illness (ICI): The ‘Unseen,’ Unspoken, Unrecognized Dilemma of Disclosure.” Journal of Workplace Learning 9 (7): 240–52. https:​//​doi​.org​/10​.1108​/13665629710190040. Warren, Narelle, and Dikaios Sakellariou. 2020. “Neurodegeneration and the Intersubjectivities of Care,” Medical Anthropology 39 (1): 1–15, http:​//​doi​.org​/10​ .1080​/01459740​.2019​.1570189. Webster, Michelle. 2018. “When Intensive Mothering becomes a Necessity: Feeding Children on the Ketogenic Diet.” In Feeding Children Inside and Outside the Home. Critical Perspectives, edited by V. Harman, B. Cappellini, and C. Faircloth, 191–206. New York and London: Routledge. Webster, Michelle, and Jonathan Gabe. 2016. “Diet and Identity: Being a Good Parent in the Face of Contradictions Presented by the Ketogenic Diet.” Sociology of Health & Illness 38 (1): 123–36. https:​//​doi​.org​/10​.1111​/1467–9566​.12330. Wegberg, A. M. J. van, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, et al. 2017. “The Complete European Guidelines on Phenylketonuria: Diagnosis and Treatment.” Orphanet Journal of Rare Diseases 12 (1). https:​//​doi​.org​/10​.1186​/s13023​-017​-0685​-2. Weglage, J., D. Wiedermann, J. Denecke, R. Feldmann, H.-G. Koch, K. Ullrich, and H. E. Möller. 2002. “Individual Blood-Brain Barrier Phenylalanine Transport in Siblings with Classical Phenylketonuria.” Journal of Inherited Metabolic Disease 25 (6): 431–36. https:​//​doi​.org​/10​.1023​/a:​1021234730512. Windle, Gill. 2010. “What Is Resilience? A Review and Concept Analysis.” Reviews in Clinical Gerontology 21 (2): 152–69. https:​//​doi​.org​/10​.1017​/s0959259810000420. Witeska-Młynarczyk, Anna. 2019. Dziecięce doświadczenia ADHD. Etnografia spornej jednostki diagnostycznej. Warsaw: Oficyna Naukowa. World Health Organization. 2020. Screening Programmes: A Short Guide. Increase Effectiveness, Maximize Benefits and Minimize Harm. WHO Regional Office for Europe. https:​//​apps​.who​.int​/iris​/bitstream​/handle​/10665​/330829​/9789289054782​ -eng​.pdf. Żołkowska, Joanna, Kamil Konrad Hozyasz, and Maria Nowacka. 2018. “Zapobieganie zespołowi fenyloketonurii matczynej, czyli leczenie dietetyczne fenyloketonurii w okresie prekoncepcyjnym i w czasie ciąży.” Pediatr Med Rodz 14 (1): 47–53.

NOTES 1. In this chapter, rare inborn metabolic diseases, rare inborn metabolic disorders, and rare inborn errors of metabolism (IEMs) will be used interchangeably, as they pertain to the same group of disorders. 2. In the course of a three-and-a-half-year field study between May 2016 and November 2019, I met a total of thirty-one people affected by a rare inborn metabolic disorder in twenty-six families. Of these individuals, eighteen were diagnosed with LCHADD, eleven with PKU, and two individuals with other metabolic diseases with

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similar, milder manifestations (VCLAD and hyperphenylalaninaemia). The largest group among these subjects were children of preschool or early school age (nine and seven, respectively), immediately followed by children under three years of age (nine people). I decided to also meet the adults to find out a little more about how the disease was dealt with in their childhoods, and what their lives are now like. These were two people with PKU and one with LCHADD aged around thirty years of age. This research was funded by the National Science Center within the framework of the ETIUDA program (2019/32/T/HS3/00087), and by the University of Warsaw within the framework of the Program of Integrated Activities for the Development of the University of Warsaw funded by the PO WER path 3.5. 3. Much research involving children has recently been published (e.g., Christensen and James 2008; Johnson, Pfister, and Vindrola-Padros 2012; Mitchel 2006), which I see as an important step towards giving a voice to those who are often silenced. However, due to the methodological and ethical difficulties involved in conducting qualitative research with children (e.g., Farrell 2005; McCall, Smith 1989), I decided that conducting participant observation would provide an adequate source of information for this study. This research was conducted with respect for the ethical principles of conducting research with children: all participants were informed of the purpose of the research, and the adopted research method had no negative consequences for the children. 4. Rare Disease Day, held annually on the last day of February, focuses on increasing awareness of rare diseases, improving access to treatment and advocating for individuals with rare diseases and their families. In 2009, the event became a worldwide initiative through the National Organization for Rare Disorders. 5. I describe my research methodology and the study group in detail in my doctoral thesis (Chowaniec-Rylke 2021). 6. Tyrosine is a building block of protein involved in the production of dopamine, a neurotransmitter responsible for the control of, among other things, emotions and muscles. 7. It should be added, however, that the Polish Plan for Rare Diseases includes the development of a patient registry as one of its goals (Ministry of Health 2021). 8. https:​//​www​.orpha​.net​/data​/patho​/Pro​/pl​/Fenyloketonuria​_PL​_pl​_PRO​_ ORPHA716​.pdf (Accessed 20 February 2022). 9. http:​//​przesiew​.imid​.med​.pl​/fenyloketonuria​.html (Accessed 20 February 2022). 10. Ministry of Health, Newborn Screening Program in Poland for 2015–2018 (Program Badań Przesiewowych Noworodków w Polsce na lata 2015–2018). 11. For example, there is 1,232 mg of Phe in 100 g of white beans, 1,380 mg in 100 g of lentils, 35 mg in 100 g of carrots, and 55 mg in 100 g of zucchini. 12. For more on the history of PKU screening in the United States and the campaign for mandatory PKU testing, see Brosco and Paul (2013). 13. This pursuit of communality was particularly evident during the regularly organized workshops and conferences held for patients and their families, which provided an opportunity to get to know each other, talk, and share experiences. 14. This may gradually change with the introduction of the aforementioned Plan in 2021.



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15. https:​//​www​.sluzbazdrowia​.com​.pl​/leki​.php​?lek​=dieta​%20eliminacyjna​%20w​ %20fenyloketonurii (Accessed 4 March 2022). 16. It is worth noting that finding a formula that a child will digest is a lengthy process: formulas may have a bitter, unpleasant taste and can cause gastric problems, which is particularly unwanted in the case of PKU. A formula that is well-tolerated by a child may not be eligible for reimbursement. 17. During my research with IEM families, I encountered only one single-parent household. In other families, both mothers and fathers were involved in the child’s life and were living together. 18. Use of this term is not without its critics, as Catherine Panter-Brick has pointed out “[J]ust as the term risk has been used sloppily to imply that all individuals belonging to a high-risk group are deemed vulnerable, the term resilience has been used carelessly to refer within high-risk groups to individuals who somehow ‘beat the odds.’ The literature on resilience in child development and epigenetics, for example, is peppered with terms such as ‘resilient children’ and ‘resilient genes.’ This shorthand annotation of genetic and developmental research makes little room for careful consideration of personal attributes, social categorization, and cultural affiliation.” (2015, 241). 19. In Poland, children diagnosed with a rare disease are assigned to a specialized hospital, of which there are several, depending on the disease. As a rule, the doctor treating a child for a rare disease is not at the nearest hospital. 20. For more on the difference between “hidden” and “invisible” see Fitzgerald and Paterson (1995): “hidden” suggests that a person with a disability or disease may decide to “hide” it while the word “invisible” seems more appropriate for PKU. 21. All names in this article have been changed to protect the anonymity of research participants. 22. This issue is elaborated on in my other papers on disability and rare diseases (Chowaniec-Rylke 2018a, 2018b, 2019) and in Frydrych (this volume). 23. The frustration of my interviewees stemmed from the fact that a child with PKU can eat many things that are available to other people, and they required nothing more in these situations than a serving of cooked vegetables, salads, French fries, or fruit. 24. As Stanisz (2013) has stated: “In general, women believed that men were unsuitable for running a household and, they said, rarely allowed them to do arbitrary daily activities such as cleaning, laundry or ironing. This is because a man’s self-will in this regard involves the potential destruction of the order established by women” (Stanisz 2013, 140). 25. Polish law (Announcement of the Minister of Labor and Social Policy of July 8, 2015) stipulates that only caregivers of a child with a diagnosed severe disability are entitled to financial support comparable to the lowest wage. The decision in this case is made by a commission consisting of at least one doctor and one expert from another specialty, such as a psychologist, educator, or doctor. This commission makes its decision based on the medical documentation provided by the caregiver and examination of the child. If the committee determines that the child is not disabled “enough,” the family is only entitled to an allowance of 215.84 PLN (less than 50 EUR/USD per month). Both benefits are granted temporarily, up to the child’s sixteenth birthday.

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26. At the time of writing, the maximum monthly financial support was 2334.84 PLN (less than 500 EUR/USD) per month and the minimum wage amounted to 2363 PLN.

Chapter 2

Between Paternalism and Autonomy Polish and Swedish Configurations of Caring for Children with Inherited Metabolic Disease Filip Rogalski

[The thing that]entered my head is that it lies with us whether he is going to handle it. It is we who will see if he gets the food he should get, the right food. . . . Everything seems to hang . . . to rest on our shoulders. That he will feel well . . . simply. (Ingrid,1 mother of Leonhard, age 10, with VLCADD, Sweden)

Each year since the recent expansion of newborn screening, a certain number of babies in developed countries are diagnosed with inherited metabolic diseases (IMDs).2 These incurable conditions require daily and demanding treatment, entailing a strict diet, management of physical activity, and vigilance for any signs of exacerbation. The bulk of this therapy, as noted by Ingrid in the quote above, rests with the parents. However, understandings of parental responsibility differ significantly depending on national context. Despite both Polish and Swedish doctors and dietitians emphasizing parental responsibility and involvement in treatment, in this comparative study I will show that crucial differences exist in how these terms are conceived: while Swedish medical staff expect a high degree of autonomy from parents in decisions about their child’s treatment and care, in Poland more emphasis is placed on an interrelationality of care (Trnka 2017, 7), the biosocial community of peer 47

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parents (Rabinow 1996), and strong relationships with the child’s principal doctor. In this chapter I demonstrate how these differences inform systemic solutions and treatment routines in these two countries, as well as general conceptualizations of metabolic disease: as an all-encompassing condition in Poland, or as just one aspect of a child’s existence, in Sweden. As is well known from the social scientific scholarship of illness and health, the circumstances of people living with disabilities and chronic diseases—health conditions that can be managed but not cured (Heurtin-Roberts and Becker 1993, 281)—depend on a combination of healthcare and social policies and cultural models of citizenship, family, and kinship (Landsman 2009; Sobo 2010; Rapp and Ginsburg 2011). Radical and general transformations in healthcare over the last few decades, marked by a progressive inclusion and engagement of patients or caregivers of pediatric patients in clinical research and the production of biomedical knowledge, have also taken effect (Dumit 2006; Epstein 1995; Rabeharisoa, Moreira, and Akrich 2014; Trnka 2017). In parallel with neoliberal reforms that have transferred social services from the state to the individual, people in both developed and developing countries are required to assume greater autonomy and become responsible subjects (Rose 2006). As the successful management of a child with an IMD is highly dependent on daily parental engagement, this is both enabled by and contributes to these wider processes. However, as I will show, the broad notions of autonomy, responsibility, and involvement in the “chronic living” (Manderson and Wahlberg 2020) of families with children with IMDs can take diverse national forms, even for diseases with standardized clinical routines. One of my inspirations for this analysis has been the masterful study by Susanna Trnka (2017) on models of care for children with asthma in New Zealand and the Czech Republic, in which she sheds light on conceptions of responsibility for health and healthcare in these two developed countries. While childhood asthma is largely framed as a political problem in the Czech Republic, and thus, for example, linked to air pollution, the condition is principally viewed in New Zealand as an issue of personal responsibility and patient/caretaker compliance. In this chapter, I will illustrate how a focus on self-management can lead to distinct notions of care and responsibility. ABOUT THE STUDY This chapter is based on an ethnographic study among Polish and Swedish patients living with IMDs, their families, healthcare providers, and other people professionally involved with these diseases. This is part of a collective research project (see Rajtar and Król, introduction to this volume) focusing on people living with fatty acid oxidation disorders (FAODs,

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such as medium-chain acyl-CoA dehydrogenase deficiency [MCADD], long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHADD], and very-long-chain acyl-CoA dehydrogenase deficiency [VLCADD]), organic acidemias (OAs), and maple syrup urine disease (MSUD)—conditions which, for brevity, I will refer to with the more general label of “inherited metabolic diseases”—in Poland, Finland, and Sweden. As I conducted my ethnographic research in Poland and Sweden, the Finnish material will not be discussed in this chapter. Data were collected through interviews, participant observation of in-person and online workshops for families and professionals, and content analysis of Facebook groups and blogs. I have endeavored to meet patients and families from diverse health, social, and cultural backgrounds, as well as professionals from varied organizations and institutional settings. However, due to a number of circumstances, the final composition of my research community is rather unbalanced and does not entirely reflect the diversity of possible situations. I met many more Polish families than Swedish, but more Swedish professionals than Polish; significantly more families living with FAODs than those living with OAs and MSUD; far more parents than patients, and only two adult patients; and many more families with young children than preteens and teenagers. Also, while my Swedish interlocutors were fairly evenly distributed throughout the country, the Polish participants mostly, though not exclusively, lived in two regions of Poland and attended two metabolic centers. As a result, the Polish configuration of treatment and care for children with IMDs will be reconstructed mainly on the basis of the narratives of parents of children treated by two doctors, who I designate as Dr. Piotrowski and Dr. Grabowska, and may not reflect the situation in other Polish centers.3 IMDS AND THE RULES OF TREATMENT The IMDs covered in this study consist of enzyme deficiencies that disrupt the metabolism of fats (FAODs) or amino acids (OAs and MSUD). Those affected are subject to a build-up of metabolites: unprocessed chemical compounds that are often toxic and may result in permanent damage to internal organs, including the brain. This disturbed metabolism can also cause a severe lack of energy. Depending on the condition, these processes may induce episodes of exacerbation, biomedically known as “metabolic decompensation,” symptoms of which include poor appetite, lethargy, and vomiting, and can lead to vital organ damage and even death (Nyhan, Barshop, Hoffmann, and Al-Aqeel 2019). Although there is no treatment that can cure these conditions, early intervention can often mitigate consequences: hence the inclusion of IMDs in

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many national newborn screening panels, including those in Sweden (from 2010) and Poland (from 2014). In both these countries, treatment is primarily based on: (1) a dietary regimen, including frequent feeding to avoid prolonged fasting, the avoidance of some common foodstuffs, and use of special foods or supplements, (2) management of physical activity to avoid excessive exertion, and (3) monitoring of the child’s condition to accurately assess when hospitalization is necessary (see also Chowaniec, this volume). This includes regular check-ups in a metabolic ward or outpatient clinic. At times, special biomedical feeding technologies are used, such as nasogastric intubation, a flexible tube inserted through the nose into the stomach (commonly abbreviated as NG-tube), or percutaneous endoscopic gastrostomy (PEG), a feeding tube inserted through the abdominal wall into the stomach.4 With some OAs and MSUD, liver and/or kidney transplantation may be indicated. Depending on the country in which they live, patients with IMDs may be able to apply for various forms of social support, such as personal assistance, allowances, school assistance, and disability benefits. Management of IMDs is challenging for both parents and healthcare providers. For doctors and dietitians, IMDs are primarily demanding due to their biomedical complexity and effect on a wide range of bodily functions (Saudubray et al. 2016). Clinical studies on specific IMDs are scarce due to the rarity of these conditions. There is also considerable variation in how specific IMDs manifest in individual patients and treatment response; only over time will doctors see how a child responds to stressors such as common infections, stomach flu, physical exertion, and vaccinations, as well as their susceptibility to exacerbation. Children with IMDs require regular check-ups—initially every two weeks, increasing to once a year—and their diet must be adjusted as they grow and develop. Depending on the IMD, various organs and bodily functions also require monitoring. Alongside these purely clinical and biomedical challenges for doctors and dietitians is the imperative to educate parents about their child’s disease. One obstacle is conveying the seriousness and risks associated with a disease that seldom presents itself with alarming symptoms. As a result, physicians tend to develop a close relationship with the child and their family. Evidently, the main burden of treatment falls on parents (Zeltner et al. 2019). They are the ones who must restrict, schedule, and control the nutritional composition of their child’s diet; ensure the child does not become overtired; and, when close monitoring reveals any signs of deterioration, subsequently modify their diet or seek urgent medical help. Polish and Swedish parents experience similar challenges related to acquiring complex biomedical knowledge about metabolic disease and the rules of their treatment, then translating these rules into workable practices to be combined with the other values of everyday life (Rogalski, forthcoming; see also Pols

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2013). They anxiously accompany their children through the milestones of physical and social development: the transition from formula to solid food, ensuring the safety of vaccinations, starting kindergarten and school, attending birthday parties, practicing sports, and travelling abroad for holidays. In both countries, parents must at times make considerable efforts to enforce their child’s entitlement to social services. In fact, caregiving requires them to case manage their child (Sobo 2010): parents must maintain a safe supply of medical food, make and keep track of appointments with specialists, and fight for social support. These rules and experiences form a general, shared framework of how IMDs are approached and managed in Poland and Sweden. I will now turn to specific distinctions between the two cases. First, I review a number of differences in systemic healthcare solutions, then discuss various parental experiences and perspectives. I will show that, quite apart from variations arising from contrasting levels of healthcare funding and the fact that a health care system may be better or worse prepared to deal with metabolic chronicity, there are significant differences in how parental autonomy and responsibility are understood and promoted in the two countries. THE SWEDISH AND POLISH HEALTHCARE SYSTEMS AND THE CHRONICITY OF METABOLIC DISEASE To my anthropological eye, untrained in biomedicine, the way practicalities of treatment were organized in Poland and Sweden gave me the impression that the Swedish system was better prepared to deal with metabolic chronicity. When starting my fieldwork in Sweden in early 2020, having already spoken to several Polish families, I was struck by the efficient simplicity of Swedish solutions, and how results achieved through the unobvious and never taken-for-granted personal involvement of doctors and dietitians in Poland, were “hardwired” into the workings of the Swedish system. This difference is evident even in the simplest solutions to otherwise serious problems, such as providing families with remote contact with a metabolic doctor, when their child is unwell. As every sickness, stomach flu, fever, etc., may produce life-threatening exacerbation for a child with an IMD, the ability to contact a doctor is crucial. In Poland, due to the utter impossibility of parents getting through to the clinic on the phone, they are usually given their metabolic doctor’s private number and told to call when something is wrong. This solution has many disadvantages, particularly the reluctance parents may feel to disturb doctors in their free time, and the resulting guilt when they do. Swedish clinics provide this emergency contact on a systemic level: each

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clinic has an emergency number linked to a cell phone carried by the doctor on duty around the clock, both in the hospital and at home. Undoubtedly, the smooth functioning of hospital care for a child with IMD in both Sweden and Poland depends on efficient routines. The main distinction is the institutionalization of these routines in Sweden; in Poland they are often established on the fringes of the system, through the efforts of individual doctors. This is particularly evident in the handling of emergency admissions. In Poland, rapid admission is generally achieved through informal or makeshift solutions. When a child with IMD requires hospitalization, parents inform their metabolic specialist they are heading to the hospital; the doctor will arrange direct admission to the ward, bypassing the emergency room.5 Parents in small Polish towns establish relationships with their emergency room teams. According to Anna (mother of Leon, age eleven, with a FAOD, Poland), her son’s name acts as a password that opens the hospital door for children with similar conditions: “Here the path is already well-trodden . . . you enter the ward and say that it is the same disease as Leon Kowalski, and the lady knows what is going on and lets you in.” In such small towns, an individual child’s name may be displayed on the emergency room wall: “they just know us. When we come in, we say it’s Krzyś Pawlak, metabolic disease, ‘oh, that’s you’ [they say]. We hang on the wall, among a few other cases [who are directly admitted to the ward],” recalls Małgorzata (mother to Krzyś, age one, with LCHADD, Poland). In contrast, immediate admission is built into the Swedish emergency computer system: when the doctor on duty accesses the medical history of a patient requiring special treatment, a red emergency sign flashes next to the patient’s name.6 The contrast between how IMDs are dealt with is most striking in dietary care, with the Polish healthcare system appearing particularly deficient. The regional Polish metabolic teams have very few specialized dietitians to address patient needs. For example, the team at a Polish children’s hospital that serves two voivodships with a combined population of 4.5 million has only one metabolic dietitian, who also manages the diet of hospitalized patients. In comparison, the pediatric metabolic team at a Swedish hospital serving a county with a population of 1.7 million has three full-time metabolic dietitians. In addition, as I learned from physicians at one Polish metabolic center, outpatient dietary consultations are not reimbursed by the National Health Fund (Narodowy Fundusz Zdrowia). Guaranteed funding enables Swedish metabolic teams to provide a higher level of dietary care and advice. A dietitian is always available to answer calls at the Karolinska Hospital in Solna, where the metabolic unit has a fully equipped kitchen for dietitians to cook and eat with patients and their families. These meetings are an important site for teaching practical skills, such as frying without oil or with medium-chain

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triglycerides (MCT) oil in the case of FAODs, and for normalizing and naturalizing special diets. Observing families at the kitchen table helps dietitians identify potential feeding problems which often lie in details such as food presentation or portion size. Swedish dietitians also accompany parents on shopping trips to help them find suitable products. In this respect, the Swedish system not only acknowledges the importance of dietary treatment, but also the need to educate parents on how to find new foodstuffs and prepare suitable meals. In Poland, by contrast, much of this knowledge is shared outside or on the margins of the national health system, relying primarily on the unpaid work of individual doctors and dietitians providing medical and nutritional advice outside working hours and through Facebook groups. An important part of that knowledge is also shared at parent meetings and culinary workshops, organized by metabolic clinics but sponsored by companies that manufacture special medical foods. These culinary workshops, the importance of which may seem secondary and mainly related to quality of life and bio-sociality, are in fact an important context for educating parents about core dietary treatment (see Król and Ehmke vel Emczyńska-Seliga, this volume). However, informal dietary advice from doctors and dietitians depends on parents’ ability to elicit such help, by phoning or texting the dietitian, or posting a question in the Facebook group, and, as specialized cooking workshops are infrequent and only held in a few large cities, not all parents have the resources to attend. Important systemic differences also exist in access to special medical foods. Although the range of medical foods for IMD diets is roughly the same in both countries (the same products being offered by the same manufacturers), ordering procedures differ. Once again, the Polish system is ill-prepared for metabolic chronicity: although the diet of children with IMDs is based on the same products, used over many years, such as a specific infant formula and MCT oil, parents must go through the same time-consuming and bureaucratic procedure of making a separate application to the Ministry of Health each time they run out of stock. As they can never be sure an application will be successful, parents must complete and submit the paperwork well in advance to ensure a steady supply. It is not uncommon for a family to be left without a special formula or other product—they turn then to their metabolic clinic for help (which then draws on its stock reserved for inpatients) or borrow products from other parents. In Sweden, the procedures—although they vary between regions—are quite straightforward. Once a child has been granted a particular product, reordering is simple: my Swedish interlocutors had never faced any difficulties in this area. Dissimilarities between the social support systems in these two countries also have a significant impact on the lives of children with IMDs and their families. In Poland, social support for children with disabilities is relatively

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homogeneous and based on granting the child the status of a person with a disability (with or without recognition of the parents’ right to full care allowance: see Frydrych, this volume); social support in Sweden is differentiated and depends on the particular needs of individual children and their caregivers.7 Although both Polish and Swedish children with IMDs and their parents are entitled to forms of social support, parents in both countries often have to fight for this support, at times through the courts.8 However, I argue that the difference in approaches to disability—between the “all-encompassing” Polish approach, where social support is granted with a disability status and a child with disability is conceived as disabled, and the “compartmentalizing” Swedish approach, where there is no disability status and social support is targeted at specific needs—corresponds to a difference in the degree to which metabolic disease as a condition is seen to define a child’s being. PARENT-DOCTOR RELATIONSHIPS My interviews also revealed a radical difference in how parents and, most likely, metabolic pediatricians perceive their relationship and each other’s role in healthcare. In Sweden, care is viewed as a collective effort distributed among different professionals: metabolic pediatricians, dietitians, nurses, and psychologists. This is perfectly exemplified by how contact between parents and the clinic is organized. While, as mentioned, Polish parents must rely on the personal phone number of their child’s metabolic pediatrician, Swedish parents are given a contact list: in addition to an emergency number for the doctor on duty, they can contact metabolic dietitians to discuss problems relating to diet, a ward nurse to arrange, for example, follow-up visits, or a psychologist.9 Also, the Swedish parents I met, when asked to evaluate the quality of care their child received, discussed this as the teamwork effort of a particular metabolic center. In contrast, Polish parents focused their narratives around the figure of their child’s principal doctor, often portrayed as a charismatic and dedicated individual working outside and, at times, even against the healthcare system. Although children can be seen by various medical staff at the hospital or outpatient clinic, Polish parents tend to develop a close relationship with a particular doctor, even to the extent of including them in their kinship network: one female doctor was often referred to as ciocia, the equivalent of the familiar “auntie.” Parents also tend to refer to these particular doctors with reverence during interview. Patrycja (mother of Gaia, age three, with isovaleric acidemia, Poland) described her daughter’s doctor in the following terms: “for us he is an angel (anioł). He always really helps, gives support. . . . I wish everyone had such a doctor, really. He is a golden person (złoty

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człowiek),” while Małgorzata (mother of Krzyś, age one, with LCHADD, Poland) referred to their doctor as “our guru” (nasz guru). The main characteristics of a good doctor, as deemed by parents, are extensive knowledge and constant availability to share that knowledge and answer questions. Doctors are praised for being able to deal with any issue relating to caring for a child with IMD, including assessing the child’s condition, the intricacies of dietary management, and scheduling hospital stays: Doctor Piotrowski is a wonderful doctor, he is great at explaining things, he takes care and has a great approach to children. . . . He answers even the most stupid questions . . . He always helps, assists with his advice, ideas. . . . He always has that minute to talk, to suggest what and how, [how] to approach the problem.(Justyna, mother of Iza, age nine months, with LCHADD, Poland) Our doctor usually leaves us to the very end [of the day] and says, “Well now we can sit down and talk,” and there’s no question he won’t answer. Even the most absurd questions, he never ridicules them, but actually answers them and dispels doubts. (Małgorzata, mother of Krzyś, age one, with LCHADD, Poland)

A good doctor’s knowledge is not just a matter of professional training and experience: it is viewed as stemming from a sincere, personal commitment. “Mr. Doctor Piotrowski is such an enthusiast [of IMDs],” says Dorota (mother of Patrycja, age four months, with LCHADD, Poland), and, according to Barbara (mother of Julia, age five months, with MCADD, Poland), “he lives these diseases and these patients.” Dedication is measured by the degree a doctor will go beyond their duties, particularly their availability outside work, after hours, on the phone, and on social media: Małgorzata (mother of Krzyś, age one, with LCHADD, Poland) appreciated that “Ms. Ola [metabolic dietitian] is available on Facebook practically round the clock.” Polish parents also present their doctor as an ally in their struggles with hospital hierarchy. The doctor fights for the patients and gets them what they need: “What we have here [in our metabolic ward] is thanks to Doctor Piotrowski, because he fights for it all. . . . He, no one else but him, fought for it, he tries hard to get it all” (Anna, mother of Leon, age eleven, with a FAOD,10 Poland). The metabolic pediatrician is also a source of psychological support: “Professor Grabowska is great at this [providing psychological support]. I think that apart from being an amazing specialist in the field of metabolic diseases, she can really get the parents, who are often in despair, back on their feet. She is like charismatic” (Aneta, mother to Daniel, age 7.5, with VLCADD, Poland). In fact, there is far more to the relationship between the metabolic specialist and parent than just psychological support and therapeutic guidance: the doctor accompanies the parents through the long process

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of subjectivation (cf. Gammeltoft 2014), in which they forge the identity of parents to children with disabilities. This process involves not only acquiring the knowledge necessary to manage the metabolic disease, but also adopting new understandings of the human body, new values, and new dispositions. Many parents described to me how they had become more active and more determined, particularly when confronting healthcare workers and social security officials. Polish doctors often attend to needs that are not directly related to metabolic disease and could be addressed in a general pediatric hospital. For instance, some metabolic wards admit IMD patients for observation following vaccination, in case any adverse effects occur, such as fever and vomiting. Polish parents also consult their metabolic physician with a wider range of concerns.11 Perhaps as a result of such comprehensive management of a child with IMD, coupled with the overarching concept of disability vs. social support targeted at specific needs that I have described, my Polish interviewees appear to conceive of their child’s metabolic disease as an all-encompassing condition that defines most aspects of their health. This is particularly evident in a narrative by Joanna (mother of Iza, age 1.5, with LCHADD), who compares her daughter’s disease to the Hulk, the fictional character of a destructive monster that hides inside a gentle physicist. For Justyna, LCHADD is also like the Hulk: usually undetectable, it can suddenly emerge and wreak havoc on her child’s organism. Just as the Hulk can take control of his host at any moment, the IMD, despite preventive routines and long periods of stability, can always worsen and lead to life-threatening decompensation. The Swedish approach is quite different. Here, doctors encourage parents to view the IMD as merely one part of their child’s health and existence, as was perfectly illustrated in my conversation with Elisabet, a metabolic dietitian: [We try to tell the parents]“yes, your child has a serious disease, but for all the things you have to take care of, this part is our responsibility (she draws a small circle on the table with her finger), that’s the difference from other kids, but there is a big part of your child (she draws a much bigger circle) that is exactly like any other child, don’t forget.” . . . They should get used to [the fact] that a big part of their child is just like everybody else, and then the things that differ, that’s why they come to us. And we take care of those issues [only]. (Emphasis added)

These efforts appear to be successful: when discussing the impact of the condition on their daily lives, the Swedish parents I spoke to often separated the IMD from other problems and disabilities, even those resulting from or potentially related to the disease. For example, when Emilie, Stine’s mother,

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was asked how much her life was affected by LCHADD, she replied: “Not much, I would say. But it also has to do with the fact that Stine is nineteen years old. It also has to do with the fact that she has her other disabilities which are in some way more influential, so they have a greater impact on our lives than LCHADD.” These other disabilities had resulted from brain damage in childhood and were probably caused by metabolic decompensation. For Emilie, the impact of LCHADD itself was restricted to dietary requirements and specific treatment in cases of infection or other health stresses. I argue that this difference in conceptualizing an IMD in the binary opposition of part and whole may also relate to the notion of autonomy: encouraging parents to isolate their child’s IMD is a way of emphasizing the child’s autonomy in relation to the disease. BIOSOCIALITY AND THE INTERRELATIONALITY OF HEALING Another significant difference between Polish and Swedish configurations of treatment and care is the role of support from the extended family and biosocial community of peer parents (Rabinow 1996). Other family members and parents of other children with IMDs are far more present and play a greater role in the narratives of Polish parents than in those of their Swedish peers. Polish metabolic specialists also appear to emphasize the interrelationality of healing (Trnka 2017, 7), and make considerable effort to build close relationships with families. Professor Cielecki, former head of one Polish metabolic center, described a “patient-parent-doctor triangle,” within which the treatment of a child with IMD unfolds. Other doctors highlighted their attempts to meet members of a patient’s extended family, as exemplified by Dr. Grabowska, head of a Polish metabolic team: I also like to train the grandparents. Because, you know, the grandparents are going to play a key role in taking care of these children. Because you cannot have a situation where the mother and the father know everything and then the child stays with the grandparents who do not understand the disease and do not know what the dietary restrictions are. Also, there are often conflicts in the family, I have seen it. There are conflicts about whose fault it [the IMD] is, whether it’s my son’s or my daughter-in-law’s.12 So we also try to clarify things here.

The Polish doctors I met also recognized the value of peer parent support and encouraged parent networking, directing parents of newly diagnosed children to parental Facebook groups and involving experienced parents of older children in the “onboarding” of new families, by facilitating contact or even

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inviting experienced parents to the hospital when a family with a newly diagnosed child has just been admitted. Metabolic clinics—with sponsorship from medical food companies—also organize conferences for families, at which physicians review key information about IMDs, share treatment updates and answer questions, while children with IMDs and their siblings socialize. These events create and strengthen bonds between doctors, parents, and children. Parents who attended such meetings recalled a complex menu with dishes for each IMD diet. The opportunity to eat together certainly reinforces biosociality through commensality and contributes to normalizing therapeutic diets. Some parents brought along extended family members or babysitters. The aforementioned cooking workshops also facilitate parental networking. In contrast, the Swedish parent community appears less active and there are few events dedicated to parents or families. Those that do take place are usually organized by the Ågrenska foundation, which arranges week-long stays for families living with rare diseases, or by the regional centers for rare diseases, Centrum för sällsynta diagnoser. None of my Swedish research participants were aware of cooking workshops for families with specific IMDs and, although there are parental Facebook groups, these are fewer in number. While demographic differences between the two countries certainly play a part in the latter detail, it may also result from the greater emphasis on individualism and personal independence (Daun 1991; Gullestad 1989), plus the fact the various needs of Swedish parents are generally better addressed by doctors and dieticians than those of their Polish counterparts. This distinction is epitomized by Olle, father of Felicia (age two, with GA1), who was willing to consider meeting a family in the same situation, but mainly for his daughter’s sake: so she could meet and relate to another girl with GA1. PARENTAL RESPONSIBILITY: BETWEEN TRUST AND AUTONOMY As I have described, the bulk of treatment rests with parents, and from the moment of diagnosis, they are constantly reminded of their crucial role in treatment and their responsibility for its success (see also Timmermans and Buchbinder 2013, 194). Thus, the general shift of responsibility for health and healing from the healthcare system to the patient or, in the case of children or dependent patients, their family, fed by decades of neoliberal reforms, is an issue at the heart of IMD treatment (Heimer and Staffen 1998; Rose 2006). However, as I will now discuss, the notion of parental responsibility is conceived entirely differently in Polish and Swedish configurations of care for children with IMDs.

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A good example, and a useful vantage point from which to appreciate this distinction, is the way in which urgent hospitalization of a child with IMD is managed. Although doctors inform parents about the risks of exacerbation, the symptoms are not always obvious, and parents are often unclear whether to take the child to hospital or rely on a reinforced diet. While both Swedish and Polish families can call the metabolic ward or their doctor when in doubt, the contrast in responses is striking. While the Polish parents I met were always told to come to the clinic “just in case,”13 a Swedish specialist, Dr. Olson, described her expectation that the parents would make the decision: They often call and I’m like, “Why do you call? You have to make the decision yourself.” Because it’s very difficult [to do it] sitting far away, and we don’t have any testing [possibilities]. You could say, you try this, for a while and then if the child gets worse, maybe you have to go to the hospital, you have to sort of decide yourself. . . . I think that it’s actually better that the parents learn by themselves, it’s very easy to make this call. So they shift the decision from themselves to us. . . . And I think it has to go back, to the patients [i.e., parents]. Like . . . for any other disorder, the parents have to decide what to do . . . based on the information they get from us. (Emphasis added)

As this quote illustrates, in Sweden the emphasis is on parental choice. In contrast, here is a telling quote from the story of Dorota, mother of Patrycja (age four months, with LCHADD, Poland), who recounts an urgent visit to the metabolic ward: “Dr. Piotrowski comes in and says to us, ‘I’m happy to see you.’ And I say (pretends sobbing) ‘but I’m not happy,’ and the doctor says, ‘[I’m happy to see you] because it means that you are responsible parents, and that you respect Patrycja’s disease,’ and that’s kind of it, right? You cannot downplay anything, right?” Thus, for Dr. Piotrowski, parental responsibility was equivalent to taking the child to hospital whenever they were unwell; for Dr. Olson, it meant learning how to make the decision to hospitalize themselves. My Polish interlocutors were also far more likely than their Swedish counterparts to invoke the notion of trust in their relationships with doctors, particularly a doctor’s trust in the parents as part of a more general concept of parental responsibility. Over the months and years of following recommendations, attending follow-up visits, taking the child to the hospital when sick, ensuring a supply of special foods, and successfully managing their child’s illness in general, parents gain the doctor’s trust and may be granted more agency and autonomy. This is particularly evident in Polish parents’ use of a creatine phosphokinase (CK or CPK) blood test. This is one of the main procedures used by metabolic specialists to diagnose rhabdomyolysis, a dangerous syndrome and a clinical manifestation of metabolic decompensation

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(Basheer, Mneimneh, and Rajab 2017). Experienced parents in Poland order it on their own, without a doctor’s referral—to decide whether or not to hospitalize their child. Doctors are aware of this and appear to approve. When I asked Anna (mother of Leon, age eleven, with a FAOD, Poland) if her doctor was aware she was carrying out CK tests on her son, she said: “I talked to him about it and he trusts me. He knows that I won’t do anything that could worsen my child’s condition, and he knows that I do these tests.” Thus, parental autonomy depends on a doctor’s trust. For Dr. Grabowska, head of a Polish metabolic team, parental CK testing was “very good, that’s what they are taught to do.” However, she was critical of parents who, rather than complying with the standard laboratory definition of elevated CK levels, set their own cutoffs based on what they thought was appropriate for their child. She invoked a notion of liability, asking: “Who then takes responsibility for this child?” Interestingly, she agreed that safe CK levels were clinically unique by emphasizing that every child “is different, every child reacts differently, every child has a different growth dynamic of CK concentrations.” Dr. Grabowska was questioning the competence of parents rather than the threshold adjustment itself. This illustrates not only how parents can appropriate a particular biomedical technology and how “experience-based expertise” can become blurred with the “certified expertise” of scientists and clinicians (see Akrich 2010; Pols 2013, 77), but also how understandings of self-management and responsibility differ between parents and physicians. While CK testing is certainly a sign of parental responsibility and proactive management of a child’s illness, doctors claim exclusivity for interpreting results and expect parents to limit themselves to performing the test (see Trnka 2017). Crucially, the contrasting approaches to responsibility and autonomy in Poland and Sweden also affect important biomedical decisions about treatment. The use of PEG in children requiring frequent feeding, especially those with LCHADD, is a lens that brings together the notions of bodiliness, autonomy, and good care (Pols et al. 2017). For most of the children with IMDs in my study, PEG is not a vital necessity as they were able to consume food orally. As Dr. Larsen explained to me, there are two main reasons for using PEG in children with IMDs (we talked mostly about LCHADD and VLCADD). When a child feels ill and refuses to eat, this technique makes it easier to feed the child a special high carbohydrate formula, thence avoiding or postponing hospitalization and allowing the family to “live a normal life”: that is, sleep through the night without getting up every few hours: For the first six months or the first year, you can get up every four or five hours to feed [the child], but in the long run, most of the parents go back to work, at least to some extent, and they also have other children in the family. The PEG

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allows them to have a normal life. It’s easier with the gastrostomy, you put the [PEG] pump in, you put it in at night and you take it out in the morning, and you can sleep more continuously, both the family and the child.

These benefits are obvious to parents whose children use PEGs. For Natasha, mother of Agnette (age eleven, with LCHADD, Sweden), the gastrostomy enabled them to live a better life: We love the PEG . . . it’s the best thing ever. . . . It’s fantastic. . . . I don’t think my husband and I would have been able to live together and I probably would have burned out if we didn’t have the PEG. It’s a fantastic tool for this disease and I think those who opt out of it probably don’t understand what a marathon this disease is and that you can actually put that [effort] into something else . . . if you have the PEG.

By contrast, for the Polish doctors and parents I spoke with, gastrostomy was a procedure used when all else failed and it was impossible to get the child to eat what they needed to eat (see Rajtar, this volume). As the metabolic pediatrician Dr. Pawlak informed me, PEG was used at his center for “highly neurodegenerative diseases” and “extremely neurologically-damaged children”; none of his FAOD patients were offered the procedure. According to Anna (mother of Leon, with FAOD, Poland), Dr. Piotrowski was also skeptical about PEG due to its presence as a “foreign body” that carried the risk of infection. It was inconceivable to all the Polish parents I met that use of PEG could be justified by a good night’s sleep. CONCLUSION In recent decades, marked by a general shift toward self-autonomy and responsibility (Rose 2006), notions of patients’ and caretakers’ self-management have become paramount features of contemporary healthcare in neoliberal societies. The care of a child with an IMD is certainly inscribed with this trend in both Poland and Sweden. This care relies on similar basic biomedical and practical-clinical principles—dietary treatment, use of special medical foods, monitoring of the child’s condition—in these countries, informed by notions of parental involvement and responsibility. However, as I have shown in this chapter, there are important—though perhaps not self-evident—differences in how these core notions are understood and enacted within the two contexts. Whereas care in Sweden is methodically organized at the health system level, to a large extent in Poland, many practices depend on informal routines located at the margins of the health system and the personal

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commitment of individual doctors and dieticians. This difference affects configurations of the relationship between the child, the parents and healthcare providers. While Polish doctors and parents tend to build a closer relationship with and around the child, who is more defined by their IMD, Swedish parents must learn to navigate the social and healthcare systems themselves and the disease is framed as only a part of the child’s existence. Metabolic physicians deal with a wide range of health and social problems in Poland, yet care of a child with an IMD in Sweden is distributed among a range of professionals and institutions, including metabolic centers, general practitioners, and centers for people with disabilities, each specializing in different health and social issues. Polish parents are expected to follow the doctor’s recommendations stringently and contact him or her whenever in doubt about their child’s condition; only when they have established a relationship of trust with their individual doctor are they granted greater decision-making autonomy, particularly through CK testing. In contrast, Swedish parents are encouraged to take on responsibility and personal autonomy from the very onset of their chronic parenting experience. Therefore, the Polish and Swedish models can be situated around a series of oppositions: systemic vs. informal healthcare organizations; all-encompassing vs. compartmentalized conceptions of IMDs and their care; and interrelationality and biosociality vs. individual autonomy and expertise. In conclusion, IMDs provide an ideal vantage point from which to examine conjugations of logics of responsibility and autonomy inherent in the healthcare landscapes of the early twenty-first century. REFERENCES Akrich, Madeleine. 2010. “From Communities of Practice to Epistemic Communities: Health Mobilizations on the Internet.” Sociological Research Online 15 (2): 1–17. http://www.socresonline.org.uk/15/2/10.html Basheer, Nuha, Sirin Mneimneh, and Mariam Rajab. 2017. “Seven-Digit Creatine Kinase in Acute Rhabdomyolysis in a Child.” Child Neurology Open 4: 1–4. Chowaniec-Rylke, Anna. 2019. “‘Lchad Poland’ and the Fight Against Inequality. The Role of Internet Advocacy in Cases of a Rare Genetic Condition.” In The Routledge Handbook of Disability Activism, edited by Maria Berghs, Tsitsi Chataika, Yahya El-Lahib, and Kudakwashe Dube, 289–96. London and New York: Routledge. https:​//​doi​.org​/10​.4324​/9781351165082. Daun, Åke. 1991. “Individualism and Collectivity among Swedes.” Ethnos: Journal of Anthropology 56 (3–4): 165–72. https:​//​doi​.org​/10​.1080​/00141844​.1991​.9981433. Dumit, Joseph. 2006. “Illnesses You Have to Fight to Get: Facts as Forces in Uncertain, Emergent Illnesses.” Social Science & Medicine 62 (3): 577–90.

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Epstein, Steven. 1995. “The Construction of Lay Expertise: AIDS Activism and the Forging of Credibility in the Reform of Clinical Trials.” Science, Technology & Human Values 20 (4): 408–37. Ferreira, Carlos R. et al. 2021. “An International Classification of Inherited Metabolic Disorders (ICIMD).” Journal of IMD  44 (1): 164–77. https:​//​doi​.org​/10​.1002​/jimd​ .12348. Gammeltoft, Tine M. 2014. Haunting Images: A Cultural Account of Selective Reproduction in Vietnam. Berkeley, Los Angeles, and London: University of California Press. Gullestad, Marianne. 1989. “Small Facts and Large Issues: The Anthropology of Contemporary Scandinavian Society.” Annual Review of Anthropology 18: 71– 93. https:​//​doi​.org​/10​.1146​/annurev​.an​.18​.100189​.000443. Heimer, Carol A., and Lisa R. Staffen. 1998. For the Sake of the Children: The Social Organization of Responsibility in the Hospital and the Home. Chicago: University of Chicago Press. Heurtin-Roberts, Suzanne, and Gay Becker. 1993. “Anthropological Perspectives on Chronic Illness. Introduction.” Social Science & Medicine 37 (3): 281–83. https:​//​ doi​.org​/10​.1016​/0277–9536(93)90259–7. Król, Katarzyna, and Małgorzata Rajtar. 2022. “Practicing Resilience While Negotiating the Pandemic. The Experiences of People with Rare Diseases in Poland.” In Negotiating the Pandemic: Cultural, National, and Individual Constructions of COVID-19, edited by Inayat Ali and Robbie Davis-Floyd, 125– 38. London: Routledge. https:​//​doi​.org​/10​.4324​/9781003187462–11. Landsman, Gail Heidi. 2009. Reconstructing Motherhood and Disability in the Age of ‘Perfect’ Babies. New York and London: Routledge. Manderson, Leonore, and Ayo Wahlberg. 2020. “Chronic Living in a Communicable World.” Medical Anthropology 39 (5): 428–39. https:​//​doi​.org​/10​.1080​/01459740​ .2020​.1761352. Novas, Carlos, and Nikolas Rose. 2000. “Genetic Risk and the Birth of the Somatic Individual.” Economy and Society 29 (4): 485–513. Nyhan, William L., Bruce A. Barshop, Georg F. Hoffmann, and Aida Al-Aqueel. 2019. Atlas of IMDs. 4th edition. Boca Raton: CRC Press. https:​//​doi​.org​/10​.1201​ /9781315114033. Pols, Jeannette. 2013. The Patient 2. Many: About Diseases That Remain and the Different Forms of Knowledge to Live with Them.” Science & Technology Studies 26 (2): 80–97. https:​//​doi​.org​/10​.23987​/sts​.55300. Pols, Jeannette, Brigitte Althoff, and Els Bransen. 2017. “The Limits of Autonomy: Ideals in Care for People with Learning Disabilities.” Medical Anthropology 36 (8): 772–85. https:​//​doi​.org​/10​.1080​/01459740​.2017​.1367776. Rabeharisoa, Vololona, and Michel Callon. 2002. “The Involvement of Patients’ Associations in Research.” International Social Science Journal 54 (171): 57–63. Rabeharisoa, Vololona, Tiago Moreira, and Madeleine Akrich. 2014. “Evidencebased Activism: Patients’, Users’ and Activists’ Groups in Knowledge Society.” BioSocieties 9 (2): 111–28. https://doi.org/10.1057/biosoc.2014.2

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Rabinow, Paul. 1996. “Artificiality and Enlightenment: From Sociobiology to Biosociality.” In Essays on the Anthropology of Reason, 91–111. Princeton: Princeton University Press. Rajtar, Małgorzata. 2017. “O (nie)naturalności jedzenia. Pokarmy i technologie biomedyczne w chorobach metabolicznych [On the (Un)Naturalness of Eating: Foods and Biomedical Technologies in Metabolic Disorders].” Lud 101: 383–400. Rapp, Rayna. 1999. Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America. New York: Routledge. Rapp, Rayna, and Faye Ginsburg. 2011. “Reverberations: Disability and the New Kinship Imaginary.” Anthropological Quarterly 84 (2): 379–410. https:​//​doi​.org​ /10​.1353​/anq​.2011​.0030. Rogalski, Filip. Forthcoming. “‘You Pretty Much Become Healthcare Staff.’ Parenting of a Child with IMD and Its Metaphors.” Medicine Anthropology Theory. Rose, Nikolas. 2006. The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century. Princeton, NJ: Princeton University Press. Saudubray, Jean-Marie, Matthias Baumgartner, and John Walter, eds. 2016. Inborn Metabolic Diseases—Diagnosis and Treatment. 6th edition. Berlin: Springer. Sobo, Elisa J. 2010. “Caring for Children with Special Healthcare Needs: ‘Once We Got There, It Was Fine.’” In Chronic Conditions, Fluid States: Chronicity and the Anthropology of Illness, edited by Lenore Manderson and Carolyn Smith-Morris, 212–29. New Brunswick, NJ: Rutgers University Press. Timmermans, Stefan, and Mara Buchbinder. 2013. Saving Babies?: The Consequences of Newborn Genetic Screening. Chicago and London: The University of Chicago Press. Trnka, Susanna. 2017. One Blue Child: Asthma, Responsibility, and the Politics of Global Health. Stanford: Stanford University Press. Zeltner, Nina A., Mendy M. Welsink-Karssies, Markus A. Landolt, et al. 2019. “Reducing Complexity: Explaining Inborn Errors of Metabolism and their Treatment to Children and Adolescents.” Orphanet Journal of Rare Diseases 14: 248. https:​//​doi​.org​/10​.1186​/s13023​-019​-1236​-9.

NOTES 1. All personal names have been changed to protect anonymity. 2. This chapter is based on research conducted as part of the project “An Anthropology of Rare Diseases. A Study of the Baltic Sea Region,” funded by a grant from the National Science Center in Poland (grant no. 2017/26/E/HS3/00291). The Swedish part of the study was reviewed and approved by the Swedish Etikprövnings Myndigheten (2019–02858). I would like to thank all the research participants who contributed their time and effort to the study, as well as the project researchers, Małgorzata Rajtar (P.I.), Jan Frydrych, and Katarzyna Król. 3. In total, I interviewed seventy-six people, comprising patients and families (parents of children or dependent adults) and professionals (metabolic pediatricians, dietitians, geneticists, psychologists, and biomedical scientists): twenty-nine patients

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and/or families and sixteen professionals in Poland; seven patients/families and twenty-four professionals in Sweden. The interviews took place between December 2018 and January 2022. After the outbreak of the COVID-19 pandemic in March 2020, interviews were conducted remotely. Families were mostly contacted through Facebook groups and through parents who had already taken part in the study; a few parents were contacted during an anthropological conference on rare diseases held at the Adam Mickiewicz University in Poznan, Poland, and through healthcare staff. 4. The degree of PEG use depends on national treatment models. Whereas in Sweden and Finland it is standard procedure in cases of LCHADD and VLCADD, in Poland it is commonly viewed as an intervention of last resort (Rajtar 2017; see also Rajtar, this volume). 5. This is how Dorota (mother of Patrycja, four months, with LCHADD, Poland) recalls an urgent visit to the metabolic ward: “I went to the window [in the emergency room], I said that we were from Doctor Piotrowski. One phone call and the doctor immediately came to the emergency room to pick us up. One signature and Patrycja was admitted. It all took, I don’t know, maybe six minutes and she was already under the [glucose] drip.” 6. However, incompetent doctors who are unaware of the system do exist. Ingrid (mother of Leonhard, age tem, with VLCADD, Sweden) recalled having to explain the meaning of the red sign to the doctor on duty and insist that her son be admitted. 7. The Swedish Social Insurance Agency (Försakringskassan) offers several different benefits and allowances for parents of a child with disability: care allowance, caretaker’s allowance, allowance for additional costs incurred as a result of child’s disability, “contact days,” allowance for personal assistant, and an allowance for the adaptation of family’s car. (https:​//​www​.forsakringskassan​.se​/privatperson​/ funktionsnedsattning​/om​-ditt​-barn​-har​-en​-funktionsnedsattning: Accessed 23 January 2023). 8. For instance, Emilie, mother of Stine (now adult, with LCHADD, Sweden), had to go to the administrative court of appeal (Kammarrätt, the second tier for administrative courts in Sweden) to enforce her daughter’s right to a personal assistant. Also, the Polish Facebook group contains several narratives of parents taking legal action in attempts to receive full disability benefits (see Chowaniec-Rylke 2019; see also Frydrych this volume). 9. As Olle, father to Felicia (age two, with GA1, Sweden) says: “It is a huge support . . . that we have the number to the metabolic emergency room. There is always an emergency doctor available that we can contact if we are unsure of anything or if she is unwell.” 10. To protect the privacy of this family, I do not specify the disease. 11. This steadfast trust in the metabolic doctor was combined with a distrust of the hospital in general: Polish parents often mentioned the risk of hospital acquired infections due to poor hygiene as the main reason to avoid hospitalization (see the notion of “hygienic vigilance,” Król and Rajtar 2022). 12. Parents being blamed for a genetic disease is well documented in social studies of health (see, for instance, Rapp 1999). 13. I must emphasize that this may not be the case with all Polish metabolic centers.

Chapter 3

Food as Medicine Culinary Workshops for Patients with Rare Inborn Errors of Metabolism from Anthropological and Dietary Perspectives Katarzyna E. Król and Ewa Ehmke vel Emczyńska-Seliga

We will begin our Hungary-inspired cooking workshop with lángos.1 Contrary to the traditional version that requires whole-milk sour cream, we will learn how to serve it with coconut yogurt and vegan sour cream. We are told that we can use it without worries. We will begin cooking by measuring the amount of protein-free milk drink.2 If we are short of that drink, we can use other plant-based milk (excluding soymilk). Next, Chef Damian3 in his cooking studio is measuring the exact amount of low-protein flour he will later use to prepare the dough. He instructs viewers of the online cooking workshop (held during the COVID-19 pandemic) for families with a phenylketonuria (PKU) diagnosis, that they need to weigh the flour precisely: “in our recipe we need to measure the flour content in order to know exactly how much phenylalanine is in there.” In the same breath, however, he continues commenting on the issue of flour moisture and the importance of assessing that factor while working on the dough. He instructs parents that flour absorbs moisture differently in different conditions, depending, for example, on storage circumstances, so cooks must use their intuition when preparing dough. The level of moisture in the flour is important for two reasons: first, it obviously affects the cooking process but, more importantly, it gives us grounds to meticulously measure the amount of used ingredients and decipher the 67

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phenylalanine content. Chef weighs the flour; it is now 125 grams. In his view this is not enough, so he adds one more spoonful of flour, remembering to note down an extra seventeen grams. Now, he will knead the dough. He sprinkles the worktop and his hands with flour. Another extra seventeen grams of flour is put in the notebook. While kneading, Chef states that: “Any recipe can be converted into a low-protein one, it’s not a feat, you just have to think a bit and figure it out.” (Fieldnotes, May 8, 2021) In this chapter we explore the spaces where families “figuring out” how to cook while adhering to dietary requirements for children diagnosed with inborn errors of metabolism (IEMs)4 is facilitated, performed, and discussed: culinary workshops held in purpose-built, non-medical venues in Poland.5 These workshops were introduced in 2016 as a joint undertaking between companies manufacturing food for special medical purposes (FSMP)6 and medical metabolic specialists.7 Due to advances in medicine, a number of conditions that were once lethal have been repositioned as chronic. Early detection through newborn screening8 combined with an expanding body of knowledge about the nature of rare disorders has resulted in an increasing number of patients surviving into adulthood. While this is certainly a positive development, it does means that individuals and their families face ongoing challenges relating to their health and wellbeing. The shift from previously fatal to chronic requires us to attend to forms of living with these conditions and recognize not only the biomedical needs of patients but also factors such as quality of life. A recent MetabERN9 survey (Sestini et al. 2021) on the social and medical needs of patients with rare metabolic disorders (RMDs) demonstrated that the psychological and home care assistance solutions on offer in Europe are inadequate for addressing the needs of patients and their parents/caregivers (2021, 11). The observable shifts of numerous diseases from acute to chronic have resulted in renewed interest in chronicity in socio-medical scholarship over recent years. Social scientists are addressing the ways in which people “live with” chronic conditions (see, e.g., Manderson and Wahlberg 2020; Greco and Graber 2022), by exploring how patients employ practical knowledge to live well with their illness (see, for example, Polls 2013). Scholars have also examined how patients often improve their skills and knowledge to more successfully navigate self-care (for diabetes see, e.g., Mol and Law 2004), often adjusting medical technologies to their individual needs (Gottlieb and Cluck 2018), at times to the point of “deliberate non-compliance” (Scibilia 2017, after Gottlieb and Cluck 2018). Researchers have also noted the increasing importance of social media in creating patient collectives, sharing practical knowledge, and creating spaces in which biosocial identity can be negotiated. For example, Pauline Herbst has shown how medium-chain acyl-coA dehydrogenase deficiency (MCADD) patients and their families in New Zealand

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only use online support groups when they have a need for such interactions, enabling them to compartmentalize that part of their identity and “become a cosmopolitan anyone” in other spheres of life (Herbst 2016, 192). Rare metabolic patients and their caregivers must find a way to “figure out”—to quote Chef Damian again—the best available treatment strategies while facing obstacles to acquiring specific information about the disease, its course, and possible futures (also reflected in the MetabERN survey, Sestini et al. 2021). Addressing the needs of rare metabolic patients requires intense education and knowledge dissemination initiatives that address, among other issues, how to maintain a strict diet. In this chapter we examine the culinary workshops organized for families with RMDs as spaces of heterogeneous knowledge platforms, in which parental experiential knowledge (Baillergeau and Duyvendak 2016), nutritional knowledge, biomedical knowledge, and culinary trends merge, and are adapted and re-configured by individual attendees. We argue that cooking workshops are spaces where complimentary models of knowing about inherited metabolic diseases (IMDs) are generated and enabled. They also pose a unique opportunity for patients and medical professionals to exercise “sociability” (Panofsky 2011). Simultaneously, these workshops enable a more holistic approach, with patients and parents negotiating ways beyond being merely subjected to biomedical/nutritional knowledge. In these heterogeneous knowledge landscapes, their expertise and the needs of their families that fall outside exclusively biomedically-understood therapeutic goals are acknowledged. Issues relating to quality of life, such as conviviality, commensality, and barely quantifiable phenomena such as assuring “standard” childhood experiences and joy from food become equally valid. In what follows, we show how culinary workshops serve as spaces where a biosociality (Rabinow 1996) of IMD families can be created. We also build on Herbst’s observations to illuminate how, by drawing from popular middle-class culinary aesthetics and transforming diets into attractive normalized meals, these workshops allow IMD patients to become “anyone.” Workshops also extend the subject of medical intervention from the individual affected body to a collective body of the family. In this regard, we respond to the invitation made by Emily Yates-Doerr and Megan Carney (2015) to look at the kitchen as “a site of care” where the dissonances between clinical and non-clinical forms of health can be observed. Unlike medical interventions, strategies of caring for health in and through the kitchen not only target individual bodies but consider collectives, as well as social and political factors. By doing so, we reflect on what we can learn about “new infrastructures of care and daily practices that shape new experiences of health and illnesses” (Greco and Graber 2022, 1) in relation to living with an RMD in Poland.

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Looking at culinary workshops as spaces where knowledge is shared and co-created and new configurations of care are enabled, we build on the concept of “chronic homework” (Mattingly, Grøn, and Meinert 2011). This enables us to explore the experiences of patients and family members caring for loved ones with chronic conditions and disability. Mattingly, Grøn, and Meinert (2011, 347) have noted that, after receiving instructions from medical professionals, “patients are expected to carry out [work] in their home contexts as part of the treatment of chronic conditions.” Chronic homework encapsulates the ongoing physical, emotional, and practical work that caregivers and patients undertake to manage health and wellbeing. This work includes tasks such as administering medications, coordinating medical appointments, advocating for other than biomedical needs, handling insurance and finances, and managing the emotional and psychological impact of the condition on the family (for detailed descriptions of such everyday management practices, see Chowaniec, Rogalski, and Skweres-Kuchta, this volume). Caregivers often experience significant stress, exhaustion, and isolation as they navigate the challenges of managing their child’s health. Such specific chronic homework requires knowledge and experience. As the life of a child with an IMD relies on providing daily meals of appropriate quantity and composition, parents face several challenges when attempting to navigate feeding practices. To do so, they combine acquired expert biomedical and dietary knowledge with their own experiential knowledge and the experiential expertise of other parents. Culinary workshops, facilitating knowledge transfer from medical and culinary professionals and other parents, are not customarily offered to patients and their families, particularly for conditions other than PKU, and are not part of patient programs in other countries discussed in this volume.10 As we will show, these workshops, while accentuating the importance of quality of life, are in fact spaces where medical treatment is domesticated and disease is normalized. We understand the process of domestication to be rooted in “borderland practices,” residing beyond the biomedical clinic and requiring everyday practices of treatment and familial relationships to be “re- imagined and redirected” (Mattingly et al. 2011, 347). Expanding on the concept of “nourishing care” by exploring the role of food in care settings, Annemarie Mol (2010, 217) has argued that the worth of food goes beyond its “nutritional value.” Nourishing care resides in the practices surrounding food, such as the comfort derived from serving and eating food, and pleasure from the taste. Despite occupying a borderland position within the healthcare system, culinary workshops constitute an important platform for broadening the scope of care and treatment for IMD patients. As we will show, culinary workshops create a space where nourishing care can be acknowledged, and dietary treatment is not limited to the nutritional value of food.

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A NOTE ON THIS STUDY AND METHODOLOGY This chapter draws from two types of data: ethnographic (Król) and expert-experiential (Ehmke vel Emczyńska-Seliga). Employed at the Children’s Memorial Health Institute in Warsaw, Ehmke vel EmczyńskaSeliga is a clinical dietician who specializes in pediatric dietetics, rare metabolic disease, and the ketogenic diet. She has worked with patients and families with IMDs for ten years, consulting patients, analyzing their diets, and issuing recommendations in accordance with laboratory results. As an anthropologist, Król has collected qualitative data on living with IMDs in Poland as part of a broader research project on the daily experiences of people with fatty acid oxidation disorders (FAODs) and organic acid disorders in three countries bordering the Baltic Sea: Finland, Poland, and Sweden.11 In this chapter we embark on an experimental project by combining anthropological and dietary perspectives. While anthropology generally focuses on the meanings ascribed to medical treatment and the practice/experience of “being” sick, dietetics pay attention to nutritional status, weight, height, laboratory results, and, in particular, the quality and nutrient content of a diet and the presence or risk of nutritional deficiencies or excess. However, both attend to the mundane practices of everyday disease management and recognize the importance of patients’ engagement with essential treatment. In our view, anthropology and clinically practiced dietetics can provide complimentary insights on the lived experiences of patients with RMDs. The ethnographic material underpinning this chapter has been drawn from several sources. First and foremost were the culinary workshops for patients afflicted with rare IEMs and their families. Three workshops took place before the COVID-19 pandemic and were delivered on site, with Król observing while Ehmke vel Emczyńska-Seliga provided participants with dietary instructions. Four workshops organized online during the pandemic were observed by Król. Some of these were co-organized by Ehmke vel Emczyńska-Seliga, others were facilitated by dietitians from different metabolic clinics. A second source was social media support groups, in which parents discuss issues relating to diagnosis, everyday care strategies, and securing disability certification (see Frydrych, this volume), and share recipes: Ehmke vel Emczyńska-Seliga voluntarily supports these parents, providing dietary clarifications and informal consultations. Last, we draw from interviews conducted by Król with parents caring for children diagnosed with IMDs and Ehmke vel Emczyńska-Seliga’s ten years of experience supporting IMD patients. In our analysis we also include material from other social media support groups and public profiles covering issues relating to everyday life with a child diagnosed with IMD.

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Given the young age of the patients in this study, their parents took part in our research and shared their views. All interviews were audio recorded and the names of research participants have been anonymized to protect privacy. We do not refer to the exact disease that affects each child, or the names of social media groups from which threads/comments have originated to further protect the privacy of our research partners and patients. A NOTE ON THE RARE METABOLIC DISORDERS INCLUDED IN THIS STUDY Rare metabolic disorders are a group of “inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated medical conditions involving several human organ systems” (Agana et al. 2018, 1). With parental consent, all newborns in Poland are screened for RMDs, such as aminoacidopathies, organic acidurias, and FAODs (Ministry of Health 2022). Aminoacidopathies (AA) include, among others, PKU and maple syrup urine disease (MSUD), and FAODs include, among others long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and very-long-chain acyl-CoA dehydrogenase deficiency. All the RMDs screened for are inherited in an autosomal recessive manner, meaning that both parents are carriers of the disease gene but are asymptomatic and do not require medical treatment. Among the health problems that can result from RMDs are excessive sleepiness, irritability, increased or decreased muscle tone, neurological problems, developmental delay, suction problems, nausea, and vomiting. As eating problems can result from insufficient intake of a mother’s milk or formula, nasogastric tubes may have to be employed (on applications of this biomedical technology in Finland and Poland, see Rajtar, this volume). Lack of treatment can cause mental deficiency, movement disorders, rhabdomyolysis, hepatic (hepatomegaly) and/or heart (cardiomyopathy) problems, and even death. Every patient is at risk of metabolic decompensation. Deficiency of energy leads to catabolism and an accumulation of toxic metabolites, threatening the health and life of patients. This can be caused by extended breaks between meals, infections, vomiting, diarrhea, vaccinations, and stress.

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BIOMEDICAL AND DIETARY APPROACHES TO FEEDING IMD PATIENTS There are currently no drugs available to “cure” patients with RMDs (e.g., Das 2016, Berraondo et al. 2019, Caso-González et al. 2022); therefore, the treatment consists of daily management of the disorder. For RMD patients, food can be medicine as well as poison. We draw our title from the famous (mis)quote from Hippocrates: “let food be thy medicine and medicine be thy food.”12 As diet can prevent the onset of symptoms, abstaining from certain macronutrients and supplementing with FSMP is medical therapy for IMD patients. According to Jolanta Sykut-Cegielska and her colleagues (2017, 266), the appropriate term to describe the treatment of IEMs is “dietary treatment.” This requires foodstuffs in specific amounts and compositions, the addition of necessary nutrients, and the exclusion of harmful or poorly tolerated nutrients. Although dietary regulations for each IMD differ significantly, they follow the same treatment approach by addressing the nutritional requirements of the patient. Caused by defects in the metabolism of certain amino acids, AAs require a low-protein diet. Patients with PKU follow a low-phenylalanine diet (Wegberg 2017) and those with MSUD a low-leucine, low-isoleucine, and low-valine diet (Frazier et al. 2014): both require amino acid formulas, phenylalanine-free for PKU and leucine, isoleucine- and valine-free for MSUD. Dietitians and patients count the protein or amino acids in every meal to avoid exceeding recommendations. Daily protein intake is determined by a blood test and depends on age, body weight, and physical activity. Patients can eat vegetables other than legumes, fruits, low-protein dairy and grain products, oils, and sugar. An example of possible food substitutes is shown in table 3.1. For FAODs, which involve abnormal fat metabolism, a very low-fat diet with added medium chain triglycerides (MCT) is essential (Spiekerkoetter et al. 2009, Yamada and Taketani 2019). This diet allows a maximum of 10 percent calorific input from fat (long- and very-long-chain triglycerides) and requires supplementing with 10 to 20 percent of energy from MCT. As breast milk contains too much fat, babies must be fed with special milk formulas containing MCT. All other fat sources, such as butter, vegetable oil, mayonnaise, egg yolk, fat meat, fish, dairy products, soy, avocado, olives, nuts, and seeds are excluded. As well as through milk formula, MCT can be supplied in oil, emulsion, and powder, and should be added to every meal. An example of possible food substitutes is shown in table 3.2.

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Table 3.1. Traditional and Low-Protein Diet. Source: Ewa Ehmke vel Emczyńska-Seliga Traditional Diet

Low-Protein Diet

Milk with cereals, banana, cocoa Sandwich with butter, ham, cheese, tomato and salad, apple juice Chicken soup with noodles Potatoes, meatloaf, carrots, peas Milkshake (yogurt, strawberries, blueberries) Pancakes with spinach and feta cheese

Low-protein milk (special low-protein milk or oat/almond/rice milk), low-protein cereals, banana, carob Sandwich (low-protein bread) with butter, low-protein cheese (could be vegan cheese), tomato, salad, apple juice Vegetable soup (with vegetable stock) with low-protein noodles Potatoes, vegan loaf, boiled carrots Vegan milkshake (coconut yogurt, strawberries, blueberries) Pancakes (low-protein milk, low-protein flour, egg substitute), spinach, vegan feta cheese

Table 3.2. Traditional and Very Low-Fat Diet with MCT. Source: Ewa Ehmke vel Emczyńska Seliga Traditional Diet

Low-Protein Diet

Milk with cereals, banana, cocoa Sandwich with butter, ham, cheese, tomato and salad, apple juice Chicken soup with noodles Potatoes, meatloaf, carrots, peas Milkshake (yogurt, strawberries, blueberries) Pancakes with spinach and feta cheese

Milk containing 0–0.5% fat + MCT, cereals, banana, carob Sandwich with MCT oil, sliced turkey breast, tomato, salad, apple juice Chicken soup (without fat, + MCT) with noodles (eggless pasta) Boiled potatoes, meatloaf (chicken breast or turkey breast meat), carrots, peas Milkshake (yogurt 0% fat, strawberries, blueberries) + MCT Pancakes (milk 0–0.5%, flour, egg white) fried without oil, spinach + MCT

As low-calorie diets cause catabolism and metabolic decompensation in patients with AAs and FAODs, dieticians are sometimes called “good aunties” for allowing low-protein or low-fat sweets and sweetened drinks to increase calorie intake. Some jokingly admit they are the “odd dieticians” encouraging products that are not associated with a healthy and balanced diet (Fieldnotes, October 6, 2018). Parents are usually the primary caregivers responsible for navigating and managing a dietary treatment that significantly differs from “traditional nutritional recommendations for children” (Haglind Bieneck 2016, 44): a low-protein or low-fat diet would disturb development and lead to severe nutritional deficiencies in healthy children. From a dietician’s perspective, there are several moments when specific dietary treatment is most challenging. First is the moment of diagnosis. This

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is always a difficult time for parents, for whom the use of a new kind of diet is a revolution. While bottle feeding, even with a special kind of milk, evokes the feeding of healthy children and is relatively easy to accept, the introduction of solid foods poses more challenges. Parents frequently ask how to make a certain recipe in a low-protein or low-fat way during dietary consultations. Cooking the first soup may require changing lifelong cooking habits and family recipes by excluding certain ingredients. Parents tend to become particularly concerned during adolescence, a time when children want to eat chips and fast-food like their peers and perhaps even drink beer. Dieticians not only face the challenge of devising tempting alternatives, they must also know how to convince a growing child to stick to their diet. KNOWLEDGE TRANSFERS: CLINIC AND COMMUNITY The basis of managing IMDs is consuming the right amount of nutrients every day. However, navigating and attempting to establish the best available protocols is not simple for patients and their care givers, as biomedical and nutritional knowledge is at times difficult to translate into daily routines. Parents of children afflicted by IMD must learn and adapt swiftly: as soon as a diagnosis has been made, the doctor and dietitian will provide them with the necessary formula dosage and instruct them on how to complete an application for FSMPs (see also Rogalski, this volume).13 Expert knowledge on how to provide the correct diet is supplied to individual patients later on various levels and occasions, mainly through regular visits to the metabolic clinic. Although IMD treatment is based on dietary norms described as a range of numbers to which one should react, dietitians and doctors, aware each patient is different, will at times deviate from the standard program. Depending on a patient’s development, test results, and family situation, the metabolic team will allow adjustments based on practice and experience and adapt treatment accordingly. The importance of the personal experiences of physicians and dietitians alongside “expert opinion,” together with increasing parental experience in adjusting dietary treatment, has also been noted by Małgorzata Rajtar (2019). There are occasions when knowledge about IMD management is communicated to patients and their families as a community. Conferences bringing together experts in rare disease are regularly held, particularly close to the end of February and International Rare Disease Day. Although presentations are often challenging to follow without expert medical knowledge, parents are invited to participate. More approachable formats are offered by dieticians and nurses, who tend to focus on patient experiences and appear more receptive to the practical needs of specific patients. Rather than discussing

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metabolic pathways they attempt to avoid biomedical terminology when directly addressing parents and patients, and often suggest widely available substitute products that are safe for patients, such as replacing eggs with banana or avocado. Families and patients also actively participate in creating and disseminating knowledge and treatment strategies of their own through such channels as social media networks. To borrow a term from Herbst (2016, 192), these online support groups provide a “means of maintaining control against an unknown,” bring together parents and patients to exchange information and provide the opportunity to discuss aspects of treatment when precise medical data is not available. These groups create communities of trust built on expert-patient knowledge and embodied expertise (see Herbst 2016, Kingod 2020, Kingod et al. 2016), at times challenging physicians’ competence and ability to provide reliable treatment plans, at others providing complimentary data. Over time, parents create a biosocial community of care (for more on the role of social media groups in Poland, see Rogalski, this volume; ChowaniecRylke 2019). Social media groups provide a platform for exchanging the best practices for tackling everyday problems and providing solutions for IMD management from the perspectives of caretakers. Culinary workshops provide another knowledge-sharing space that recognizes the need for patients to actively participate and goes beyond the biomedical aspects of living with IMDs to address the everydayness of chronic living (e.g., Manderson and Wahlberg 2020). As we will discuss, these workshops accentuate quality of life and a family perspective, provide spaces where medical treatment can be domesticated, and normalize disease through aestheticized food practices. CULINARY WORKSHOPS Culinary workshops are not part of mandatory patient training and are not delivered in the clinic. Before the COVID-19 pandemic, they took place in purposely designed venues with a number of cooking stations and high quality equipment able to prepare even the most elaborate recipes. Such places have flourished in Warsaw and other large Polish cities due to an increasing desire among the urban middle class to acquire sophisticated cooking skills, fueled by reality shows like the Polish editions of MasterChef and Top Chef (for more on the role of these shows in the creation of Polish gastro-celebrities, see Bachórz 2019). Culinary workshops were preceded by a boom in culinary television programs that promote a specific food preparation aesthetic and site design. As ​​Isabelle de Solier has noted in her analysis of Australian culinary television, these programs exhibit a transmutation “from raw ingredients into

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a stylised dish” (2005, 467 original emphasis), and can be viewed as another permutation of the “aestheticization of everyday life” (Featherstone, 1991). According to de Solier, they carry both educational value and the potential for differentiation. The claim that the role of food in building distinction deserves more attention than originally bestowed by Pierre Bourdieu (1984) has been made by Peter Naccarato and Kathleen LeBesco, who coined the term “culinary capital” (2012) to stress the importance of food and foodways as markers of social status. Culinary workshops have become a new variety of urban leisure, responding to a middle-class desire to gain new skills in food preparation. Naccarato and LeBesco have shown that by participating in various food-related events, “individuals use their food practices to create and sustain identities that align with their society’s norms and expectations” (2012, 18). Hence, to use Herbst’s (2016, 192) term again, applying the aesthetics of popular workshops not only facilitates biosociality (Rabinow 1996) among patients and families, it simultaneously enables them to become “a cosmopolitan anyone” participating in gourmet-cized mainstream (Johnston and Baumann 2010) food practices. Access to these events is not possible for all families that might wish to attend: travel can pose a barrier for families living far from the larger Polish cities. The online format adopted during the pandemic therefore broadened accessibility. On-site workshops are mostly attended by mothers and children: while a few couples would arrive together, most fathers turned up at the end to collect their families and sometimes taste the workshop results. Although online participants were encouraged to watch and cook collectively as families, the streaming format does not enable us to assess the success of this suggestion. These therapeutic culinary workshops are co-organized by pharmaceutical companies and medical professionals. Designed for a specific type or cluster of metabolic disorders, they follow the same structure: a short lecture is given by a medical specialist to explain the etiology and mechanics of the disorder; the dietician then provides participants with information regarding the exact amounts of nutrition and medical foods that need to be included; then the chef demonstrates how to prepare nutritious meals that are compatible with the disorder’s limitations, utilizing products designed to encourage adherence to specific dietary needs. During on-site workshops, participants are divided into groups, and all take an active part in food preparation. When the meal is ready, a table is set and participants and organizers test the effectiveness of the suggested recipes. When children were not as interested in eating as they had been in preparing the meals, preferring to continue playing while snacking on sweets,14 a number of mothers remarked on how often this happened at home. When online workshops replaced the on-site meetings, registered

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attendees received complimentary boxes from the organizing company with recipe booklets, gifts for children such as crayons and small toys, and sometimes spices used during the workshop. The opening talks varied in approach to the disorder and the attendees. Usually, doctors would focus on biomedical aspects of the disorder, attempting to explain the nature of the disturbed metabolic chains while mixing highly specialized medical nomenclature with, at times, surprisingly simplistic metaphors about genes and nutrients: for example, one moment amino acids might be described as bricks to build bodies; the next moment, the doctor could be explaining how hydroxycized fatty acids in the mitochondria are blocked rather than being oxidized to acetyl-CoA, leading to fatty acid intermediates inhibiting gluconeogenesis accumulation and resulting in liver damage and acidosis. Doctors also answer questions from the audience. These can range from case-specific questions about best treatment, to general questions about what life will be like for patients in adulthood, such as whether they will be able to have children. These meetings enable a special kind of “sociability,” to follow Panofsky’s (2011) use of the term: families have the chance to meet medical professionals, discuss their most pressing questions in an amicable settings, and generate relationships. As Grut and Kvam (2013, 28) have shown, people affected by rare diseases build relationships with selected medical professionals to increase their confidence that treatment is being correctly administered. Expressing familiarity with doctors and dieticians was particularly visible during online workshops, when participants would greet speakers by typing warm welcoming messages emphasizing their intimacy: “Welcome to our doctor!” (pol. witamy naszą panią doktor!); “Good to see you, Ewuniu!” (pol. dobrze Cię widzieć Ewuniu; Ewunia is an affectionate diminutive of the female name Ewa). Building “sociability” is a mutual endeavor: for example, during an on-site workshop on October 6, 2018, Król observed a doctor starting his presentation by complimenting parents as specialists at managing their children’s disorder. Such comments are rare from biomedical experts, and this was much appreciated by the attending parents.15 Some doctors use ice-breaking techniques and attempt to lighten the atmosphere of the meetings. During an online workshop on the consequences of the COVID-19 pandemic for metabolic patients on July 24, 2020, a doctor appeared in the characteristic beaked white mask of the “Plague Doctor.”16 Participants responded well to this prop and the comments section contained many requests for information on where such a mask could be obtained. Dieticians cover a wide range of information in their presentations, from basic facts about acceptable and non-acceptable food products, to how to precisely calculate nutrients. In a workshop for low-protein patients on March 20, 2021, a dietician explained that one egg yolk contains 3.1 grams

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of protein. Later, using tables designed for IMD patients, she instructed attendants on how to calculate the amount of tyrosine that occurs after consumption of an egg yolk, by multiplying the amount of protein by forty-one. The same procedure can be applied to each protein-containing ingredient. The dietician went on to discuss dosage of a protein equivalent, a safe protein included in the diet to prevent deficiencies. Parents are often asked to keep a diet diary and make notes about each meal (for a more detailed description of this, see Rajtar 2019). During culinary workshops, experiential and practical knowledge is shared and disseminated. As the products become adapted to each disorder, FSMP is incorporated into recipes, as when protein-free liquid was used instead of milk in the example opening this chapter and when participants were instructed to prepare meatballs with MCT oil instead of “popular” fats during a workshop on November 25, 2018. Other aspects of dietary treatment, such as ensuring quality family time and commensality, are also addressed. While preparing the Hungarian tomato and pepper stew lecsó during a workshop on May 8, 2021, Chef Damian stated that the “goal is that the kids eat the same food as you. There is no difference other than the meat content in this recipe.”17 Parents were instructed to divide the lecsó and add meat to their own potions, keeping the other half PKUfriendly: that is, low in protein and therefore low in phenylalanine. Instead of meat, parents could add oyster mushrooms or, after removing the protein-containing seeds, jackfruit. The objective is to prepare a dish that can easily fulfill the needs of an IMD child, while also being familiar and satisfying for the whole family. It is worth noting however, that products such as jackfruit are not widely known and are by no means staple ingredients in a typical Polish diet. Here again, workshops for families serve as inspiration, not only for domesticating a medical diet but also for introducing a more gourmet style of cooking. Participants are generally encouraged to use seasonal ingredients: in fact, culinary workshops use the seasons as a major inspiration for recipes. TENSIONS Culinary workshops are also spaces where parents can express their frustration and encourage understandings of their family situation beyond the biomedical and dietary. Although the universality and adaptability of proposed recipes is emphasized at these workshops and families are engaged with as collectives affected by metabolic disorder, despite usually only one member being biomedically ill, the needs of these parents and children are not necessarily addressed. Observing reactions during the workshop, Król realized that not only were the suggested recipes often regarded as too time consuming for

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everyday use, at times they were unachievable due to the lack of ingredients in local shops, especially beyond the larger cities, or the high prices of alternative products and the appliances used in preparation. During one interview, for instance, the mother of a child with LCHADD pointed out the price differences between low-fat products and “standard” items. Similarly, appliances using convection heat to mimic the effect of frying with hot oil, which would facilitate the preparation of family meals and improve their sensorial qualities, remain beyond the financial reach of many families. Thus, some of the suggested recipes were perceived as suitable for special occasions rather than being incorporated into family routine. More importantly, these recipes and the advice provided rarely reflected the everyday problems that mothers faced at home.18 While chopping vegetables, one mother stated concern that her son, who only wanted tomato soup, would not eat the meal. She wished the chef would tell them “which cheese would be best for grilled cheese sandwiches instead” (Fieldnotes, October 6, 2018). This mother, who has another child, quietly explained to other members of “our” workshop group that her question was prompted by her attempt to prepare grilled cheese sandwiches for both children. The LCHADD-appropriate toast did not resemble the “regular” version, which upset the affected child and caused distress for the mother. This seemingly trivial problem illuminates the importance of commensality at home and the need to provide as-normalas-possible childhood experiences. Similar observations have been made by Backman et al. (2021), who have studied the challenges faced by Swedish parents of children with gastrostomy tubes when trying to secure “ordinary family life.” These authors use the metaphor of a kaleidoscope to illustrate how different factors, like ensuring the correct food intake, are complemented by social and cultural needs, such as creating family traditions and a sense of togetherness, as well as ensuring the child is not singled out from other children due to dietary needs (Backman et al. 2021, 1599, 1601). It is for this reason that a support group post that provides recipes for sponge cakes without carbohydrates, proteins, or fat, depending on the disorder, thus enabling parents to make birthday cakes that both adhere to dietary restrictions and appeal to children and their “metabolically regular” friends, is one of the most commented on and popular in Poland. AGILITY OF CARE: EVERYDAY TRANSLATIONS Caring for chronically ill family members requires not only expertise and discipline in implementing a set of necessary rules, such as regular testing and administrating supplements, but also the ability to remain responsive and translate abstract dietary rules into appropriate meals. By doing so, parents

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hope to provide quality of life and as-normal-as-possible childhood experiences. The challenge for a mother of juggling medical requirements while performing accurate care is perfectly expressed in a social media entry posted by one of our interviewees: At the beginning of my IMD journey, I didn’t think about starting my notebook with recipes. I thought that I would be able to adapt everything on an ongoing basis, and I guess I was just mentally not ready to admit that it would not be an ordinary notebook with recipes, but with recipes that concern the everyday life of my child with the disease that left a big hole in my heart. As if setting up a notebook with separate recipes was a kind of confirmation that in some matters this life is different and will always be so. Living with IMD from the culinary side requires a lot of creativity, a lot of thinking and pondering (pol. kombinowania). It is also a way of admitting that we cannot skip certain things and cannot replace them, that there are things that a sick child will not eat and there is no room for compromise. Of course, there are a lot of recipes that can be adapted, there are a lot of dishes that I can prepare to make my daughter’s life tasty and aromatic. That’s what I choose to focus on:) (Social Media Entry, February 6, 2022).

In her work on practices of providing care and good food in nursing homes, Annemarie Mol (2010) has reflected upon the various values that accompany care. She uses the term “nourishing care” to acknowledge that the goodness of food is not limited to its nutritious value: to provide nourishing care, food needs to be embedded in practices that provide sociability and coziness (Mol 2010, 217). Taste is also important, despite often being deemed too ephemeral to be included in the agenda of nursing homes. Such sentiments are echoed in the social media entry above. Although providing food that is not only medically appropriate but also “tasty and aromatic” is easier in individual households than in institutions, it still requires considerable “thinking, creativity and pondering” as caregivers try to attend to chronic homework regimes by reconfiguring “significant everyday routines” (Mattingly et al. 2011). Mattingly, Grøn, and Meinert (2011, 370) have claimed that observing such seemingly mundane everyday chores transformed by the necessity of performing chronic homework reveals the extent of creativity people employ when performing embodied caretaking practices. This creativity combined with attention to nourishing value is illustrated by Anna, whose son with IMD, like any other teenager, is exposed to marketing by influencers. The most popular Polish YouTube collective, Ekipa (Eng. Crew), often collaborate with food manufacturers and retailers. In early 2023, they launched an endorsement campaign for donuts sold by a few of the largest food retail chains in Poland. Despite their questionable composition and absence of

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nutritional value, these donuts became an object of desire for Ekipa’s target group, including Anna’s son. As he was not allowed to eat such a product, Anna created a low-fat alternative that only required the characteristic blue icing and colorful sprinkles to resemble the official product and shared the recipe with an online support group. In this case, nourishing value resides in Anna’s timely reaction and attentiveness to seemingly trivial matters like the sudden popularity of a specific snack. As Mattingly and colleagues have shown, engaging in creative caring practices lies at “the core of [our] senses of belonging over time” (Mattingly et al. 2011, 370). Caregivers need to be creative and responsive to ever-changing circumstances, adjusting recipes and routines accordingly. Similar intentions were described by Justyna, who ensures she receives the kindergarten’s weekly lunch plans in advance and prepares IMD-safe versions for them to serve her daughter, thereby enabling her to share experiences of commensality with her peers. CONCLUSIONS In this chapter we have explored culinary workshops organized for families with RMDs in Poland as spaces for developing knowledge on cooking and adhering to dietary requirements. The workshops serve as a platform for merging parental experiential knowledge, nutritional knowledge, biomedical knowledge, and culinary trends. They also enable a more holistic approach towards patients by considering issues beyond exclusively biomedically understood therapeutic goals, such as conviviality and commensality, providing space for biosociality, and enabling RMD patients to become “anyone” by drawing from popular middle-class culinary aesthetics and normalizing medicalized diets. By recognizing that caring for chronically ill family members requires not only expertise and discipline but also the ability to translate abstract dietary rules into proper meals and ensure good quality of life, these workshops, residing in “borderland practices” (Mattingly et al. 2011), extend the subject of medical intervention from an individual affected body to the collective body of the family. Nourishing care recognizes that the goodness of food is not limited to its nutritious value: it also includes sociability and coziness. Caregivers employ creativity and attention to nourishing value when adapting recipes and routines within their chronic homework regimes. The extent of innovation and attention to detail we have witnessed illustrates the importance of embodied practices of caretaking, performed in the kitchen, for the wellbeing and quality of life of chronically ill individuals and their families.

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REFERENCES AAA. 2012. American Anthropological Association Statement on Ethics 2012: http:// ethics.americananthro.org/category/statement/. Agana, Marisha, Julia Frueh, Manmohan Kamboj, Dilip R. Patel, and Shibani Kanungo. 2018. “Common Metabolic Disorder (Inborn Errors of Metabolism) Concerns in Primary Care Practice.” Annals of Translational Medicine 6(24): 469 -469. https://doi.org/10.21037/atm.2018.12.34. Bachórz, A. 2019. “Drzwi otwarte i życiowa szansa: kreowanie gastro celebrytów w programie MasterChef Polska.” Kultura Popularna 1(59): 94–108. Backman, Ellen, Mats Granlund, and Ann-Kristin Karlsson. 2021. “Parental Perspectives on Family Mealtimes Related to Gastrostomy Tube Feeding in Children.” Qualitative Health Research 31(9): 1596–608. Baillergeau, Evelyne, and Jan Willem Duyvendak. 2016. “Experiential Knowledge as a Resource for Coping with Uncertainty: Evidence and Examples from the Netherlands.” Health, Risk & Society 18(7–8): 407–26. https:​//​doi​.org​/10​.1080​ /13698575​.2016​.1269878. Bernstein, Laurie E., Fran Rohr, and Joanna R. Helm. 2015. Nutrition Management of Inherited Metabolic Diseases. Cham: Springer. Berraondo, Pedro, Paolo G. Martini, Matias A. Avila, and Antonio Fontanellas. 2019. “Messenger RNA Therapy for Rare Genetic Metabolic Diseases.” Gut 68(7): 1323–30. https:​//​doi​.org​/10​.1136​/gutjnl​-2019–318269. Boni, Zofia. 2021. “What’s Good to Eat? Moral Economy of Children’s Food in Poland’s Capital.” Food and Foodways 29(2): 135–56. https:​//​doi​.org​/10​.1080​ /07409710​.2021​.1901381. Bourdieu, Pierre. 1984. Distinction: A Social Critique of the Judgement of Taste. Translated by Richard Nice. Cambridge, MA: Harvard University Press. Cardenas, Diana. 2013. “Let Not Thy Food Be Confused with Thy Medicine: The Hippocratic Misquotation.” e-SPEN Journal 8(6): e260–e262. https:​//​doi​.org​/10​ .1016​/j​.clnme​.2013​.10​.002. Caso-González, Alicia, Jesica Núñez-Rodríguez, María-José Nebot-Villacampa, Yared González-Pérez, Raquel Marín-Gorricho, Claudia Leralta-González, and Carmen Obaldia-Alaña. 2022. “Clinical Experience with Orphan Drugs for Rare Metabolic Diseases.” Anales de Pediatría (English edition) 96(1): 8–16. https:​//​doi​ .org​/10​.1016​/j​.anpedi​.2020​.09​.019. Chowaniec-Rylke, Anna. 2019. “‘LCHAD Poland’ and the Fight Against Inequality: The Role of Internet Advocacy in Cases of Rare Genetic Conditions.” In The Routledge Handbook of Disability Activism, edited by M. Berghs, T. Chataika, Y. El-La Hib, and K. Dube, 289–96. New York: Routledge. Das, Anibh M. 2016. “Pharmacotherapy of Inborn Errors of Metabolism Illustrating Challenges in Orphan Diseases.” Journal of Pharmacological and Toxicological Methods 81: 9–14. https:​//​doi​.org​/10​.1016​/j​.vascn​.2016​.02​.182. Dumit, Joe. 2012. Drugs for Life: How Pharmaceutical Companies Define Our Health. Durham and London: Duke University Press. Featherstone, Mike. 1991. Consumer Culture and Postmodernism. London: Sage.

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Frazier, Dianne M., Courtney Allgeier, Caroline Homer, Barbara J. Marriage, Beth Ogata, Frances Rohr, Patricia L. Splett, Adrya Stembridge, and Rani H. Singh. 2014. “Nutrition Management Guideline for Maple Syrup Urine Disease: An Evidence- and Consensus-Based Approach.” Molecular Genetics and Metabolism 112(3): 210–17. https:​//​doi​.org​/10​.1016​/j​.ymgme​.2014​.05​.006. Gottlieb, Samantha D., and Jonathan Cluck. 2018. “‘Going Rogue’: Re-coding Resistance with Type 1 Diabetes.” Digital Culture & Society 4(2): 137–56. https:​//​ doi​.org​/10​.14361​/dcs​-2018–0208. Greco, Cinzia, and Nils Graber. 2022. “Anthropology of New Chronicities: Illness Experiences under the Promise of Medical Innovation as Long-Term Treatment.” Anthropology & Medicine 29(1): 1–13. https:​//​doi​.org​/10​.1080​/13648470​.2022​ .2041550. Grut, Lisbet, and Marit H. Kvam. 2013. “Facing Ignorance: People with Rare Disorders and Their Experiences with Public Health and Welfare Services.” Scandinavian Journal of Disability Research 15(1): 20–32. https:​//​doi​.org​/10​.1080​ /15017419​.2011​.645870. Gumienny, Jarosław D. 2016. “Newborn Screening in the Polish Population.” Medycyna Ogólna i Nauki o Zdrowiu 22(3): 169–75. Haglind Bieneck, Charlotte. 2016. “Energy Metabolism and Clinical Symptoms in Beta-Oxidation Defects, Especially Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency.” PhD diss., Karolinska Institutet, Stockholm, Sweden. Herbst, Pauline. 2016. “Action Stations: Biological Cosmopolitanism at Play on Online Support Groups for Genetic Disorders.” Sites: New Series 13(1): 177–97. Johnston, Josée, and Shyon Baumann. 2010. Foodies: Democracy and Distinction in the Gourmet Foodscape. New York: Routledge. Kingod, Natasja. 2020. “The Tinkering M-Patient: Co-constructing Knowledge on How to Live with Type 1 Diabetes Through Facebook Searching and Sharing and Offline Tinkering with Self-care.” Health: An Interdisciplinary Journal for the Social Study of Health, Illness and Medicine 24(2): 152–68. https:​//​doi​.org​/10​.1177​ /1363459318800140. Kingod, Natasja, Bryan Cleal, Ayo Wahlberg, and Gitte R. Husted. 2016. “Online Peer-to-Peer Communities in the Daily Lives of People with Chronic Illness.” Qualitative Health Research 27(1): 89–99. https:​//​doi​.org​/10​.1177​ /1049732316680203. Lang, R. D., M. C. Jennings, C. Lam, H. C. Yeh, C. Zhu, and T. Kumra. 2019. “Community Culinary Workshops as a Nutrition Curriculum in a Preventive Medicine Residency Program.” MedEdPORTAL: The Journal of Teaching and Learning Resources 15: 10859. https:​//​doi​.org​/10​.15766​/mep​_2374–8265​.10859. Manderson, Lenore, and Ayo Wahlberg. 2020. “Chronic Living in a Communicable World.” Medical Anthropology 39(5): 428–39. https:​//​doi​.org​/10​.1080​/01459740​ .2020​.1761352. Mattingly, Cheryl, Lone Grøn, and Lotte Meinert. 2011. “Chronic Homework in Emerging Borderlands of Healthcare.” Culture, Medicine, and Psychiatry 35(3): 347–75. https:​//​doi​.org​/10​.1007​/s11013​-011​-9225​-z.

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Ministry of Health. 2022. Rządowy program badań przesiewowych noworodków w Polsce na lata 2019–2026. [Government Program for Screening Newborns in Poland for 2019–2026] https:​//​www​.gov​.pl​/web​/zdrowie​/program​ -badan- przesiewowych-noworodkow-w-polsce-na-lata-2019–2026. Mol, Annemarie. 2010. “Care and Its Values. Good Food in the Nursing Home.” In Care in Practice: On Tinkering in Clinics, Homes and Farms, edited by Annemarie Mol, Ingunn Moser, and Jeannette Pols, 215–34. Bielefeld: Transcript. Mol, Annemarie, and John Law. 2004. “Embodied Action, Enacted Bodies: The Example of Hypoglycaemia.” Body & Society 10(2–3): 43–62. Naccarato, Peter, and Kathleen LeBesco. 2012. Culinary Capital. London: Berg. National Science Center. 2017. Zalecenia Rady Narodowego Centrum Nauki dotyczące badań z udziałem ludzi. https://ncn.gov.pl/sites/default/files/pliki/2016_ zalecenia_Rady_NCN_dot_etyki_badan.pdf. Last accessed: May 15, 2023.  Panofsky, Aaron. 2011. “Generating Sociability to Drive Science: Patient Advocacy Organizations and Genetics Research.” Social Studies of Science 41(1): 31–57. https:​//​doi​.org​/10​.1177​/0306312710385852. Polish Sociological Association. 2012. Kodeks Etyki Socjologa. https://pts.org.pl/wpcontent/uploads/2016/04/kodeks.pdf. Pols, Jeannette. 2013. “The Patient 2. Many: About Diseases That Remain and the Different Forms of Knowledge to Live with Them.” Science & Technology Studies 26(2): 80–97. Rabinow, Paul. 1996. “Artificiality and Enlightenment: From Sociobiology to Biosociality.” In Essays on the Anthropology of Reason, 91–112. Princeton, NJ: Princeton University Press. Rajtar, Małgorzata. 2019. “Normalised Eating and Dietary Guidelines in LCHAD Deficiency.” Ethnologia Polona 40: 91–108. https:​//​doi​.org​/10​.23858​/ethp40​.2019​ .006. Scibilia, Renza. 2017. “Deliberately Non-Compliant Diabetic.” 25 October. Available at: https:​//​diabetogenic​.wordpress​.com​/2017​/10​/25​/deliberately​-non​-compliant​ -diabetic​/ Sestini, Sylvia, Laura Paneghetti, Christina Lampe, Gianni Betti, Simon Bond, Cinzia Maria Bellettato, and Scarpa Maurizio. 2021. “Social and Medical Needs of Rare Metabolic Patients: Results from a MetabERN Survey.” Orphanet. Journal of Rare Diseases 16(1):336. https:​//​doi​.org​/10​.1186​/s13023​-021​-01948​-5. Solier, Isabelle de. 2005. “TV Dinners: Culinary Television, Education and Distinction.” Continuum 19(4): 465–81. https:​//​doi​.org​/10​.1080​/10304310500322727. Spiekerkoetter, U., M. Lindner, R. Santer, M. Grotzke, M. R. Baumgartner, H. Boehles, A. Das, et al. 2009. “Treatment Recommendations in Long-Chain Fatty Acid Oxidation Defects: Consensus from a Workshop.” Journal of Inherited Metabolic Disease  32(4):498–505. https:​//​doi​.org​/10​.1007​/s10545​-009​-1126​-8. Steinbeck, Katharine S, Lynne Brodie, and Susan J Towns. 2008. “Transition in Chronic Illness: Who Is Going Where?” Journal of Paediatrics and Child Health  44(9): 478–82. https:​//​doi​.org​/10​.1111​/j​.1440–1754​.2008​.01321​.x.

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Sykut-Cegielska, Jolanta, Anna Kowalik and Maria Giżewska. 2017. “Wybrane wrodzone wady metabolizmu.” In Żywienie i leczenie żywieniowe dzieci i młodzieży, 264–86. Cracow: Medycyna praktyczna. Wegberg, A. M. van, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, et al. 2017. “The Complete European Guidelines on Phenylketonuria: Diagnosis and Treatment.” Orphanet. Journal of Rare Diseases 12(1): 162. https:​//​doi​.org​/10​.1186​/s13023​-017​-0685​-2. Yamada, Kenji, and Takeshi Taketani. 2019. “Management and Diagnosis of Mitochondrial Fatty Acid Oxidation Disorders: Focus on Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency.” Journal of Human Genetics 64(2): 73– 85. doi:10.1038/s10038-018-0527-7. Yates-Doerr, Emily, and Megan A. Carney. 2015. “Demedicalizing Health: The Kitchen as a Site of Care.” Medical Anthropology 35(4): 305–21. https:​//​doi​.org​/10​ .1080​/01459740​.2015​.1030402. Zschocke, Johannes, and Georg Friedrich Hoffmann. 2004. Vademecum Metabolicum: Manual of Metabolic Peadiatrics. Stuttgart: Schattauer.

NOTES 1. A traditional Hungarian deep-fried flatbread. 2. Dietary food for special medical purposes, like the one used in this recipe, should only be used under strict medical supervision. The drink mentioned here is a protein-free liquid mixture of fats and carbohydrates for the dietary management of inborn errors of metabolism, suitable for infants over six months of age and adults on protein-restricted diets. 3. The name of the chef is anonymized. 4. Throughout the chapter we use the terms: rare metabolic disorders (RMDs), rare metabolic disease and inherited metabolic disorders (IMDs) interchangeably for a group of over 1,400 genetic disorders. In this chapter, we focus specifically on workshops for patients diagnosed with fatty acid oxidation disorders (FAODs, e.g., long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHADD], and very-long-chain acyl-CoA dehydrogenase deficiency [VLCHADD], and aminoacidopathies like maple syrup urine disease (MSUD) and phenylketonuria (PKU). 5. Katarzyna E. Król would like to express her heartfelt gratitude to all participants in the research project. Your willingness to share your time, experiences, and insights was invaluable. Ewa Ehmke vel Emczyńska-Seliga would like to thank all patients with IMDs. Without patients and their families she could not be the person she is now: a dietician wishing to expand her knowledge and experience for the well-being of those in need. Thanks are also due to colleagues at work: Ehmke vel Emczyńska-Seliga is happy to be part of such a great team of specialists. We would also like to thank Małgorzata Rajtar, whose suggestions have been invaluable and significantly contributed to our final version. This chapter was written as part of a project financed by National Science Centre No. 2017/26/E/HS3/00291.

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6. In line with EU regulations “these foods are intended for the exclusive or partial feeding of people whose nutritional requirements cannot be met by normal foods” (https:​//​ec​.europa​.eu​/food​/safety​/labelling​_nutrition​/special​_groups​_food​/medical​ _en). They are intended to be used under medical supervision and prescribed to people with certain diseases, disorders, or medical conditions. Medical food in the EU is regulated by the Commission Directive 1999/21/EC. On the medicalization of everyday food and the emergence of functional foods as the epitome of biomedical living, see Dumit (2012, 195). 7. This is not the first time that culinary workshops have been organized for metabolic patients and their families in Poland, but in the past they have taken different forms: for example, included in the agenda of meetings for PKU patients and their families, such as the “Metabolic Academy” and, since at least 2007, summer rehabilitation retreats organized by the patient organization “Ars Vivendi” (see: https:​//​ fenyloketonuria​.org​/wp​-content​/uploads​/2019​/08​/2007​.pdf). 8. Neonatal screening for genetic disorders is a relatively new tool in public healthcare practice. Screening for PKU has been available in Poland since 1985, but some rare IEMs were only added to the screening panel in 2013 (Gumienny 2016). 9. MetabERN: European Reference Network for Hereditary Metabolic Disorders is a nonprofit EU network led by patients and experts that aims to improve the quality of life of patients and families with IMDs. Currently, there are twenty-four European Reference Networks addressing the needs of patients with various rare disorder types. 10. Culinary workshops for PKU patients are organized in most European countries by two global companies who dominate the European market of FSMP: Nutricia (part of Danone) and Vitaflo (owned by Nestlé). 11. Research was funded by the National Science Centre in Poland under grant 2017/26/E/HS3/00291. Other discussions about data from ethnographic research conducted under the same project can be found in this volume: see the chapters by Frydrych, Rajtar, and Rogalski. More results from the research conducted by Król are discussed in her PhD thesis “Knowledge Production and Biomedical Cultures within Rare Diseases in Poland,” prepared at the Institute of Philosophy and Sociology, Polish Academy of Sciences under the supervision of Małgorzata Rajtar. Although anthropological research projects did not require formal approval from an ethical review board at the time the project started, oral consent from participants was obtained. The empirical data were collected and handled in accordance with ethical recommendations issued by national (National Science Centre of Poland 2017, Polish Sociological Association 2012) and international professional associations (American Anthropological Association 2012). 12. As Diana Cardenas (2013) has shown after reviewing Corpus Hippocraticum, this famous phrase cannot be found in Hippocrates’ work. However, it remains widely attributed to the ancient author by scholars to strengthen the importance of interrelating food and health. Including dietary treatment in medical practice can certainly be attributed to Hippocrates. 13. The diet for IMD patients is composed of ordinary foods administered in certain quantities and medical foods. Food for nutritional uses, such as MCT oil, can be obtained in Poland according to a procedure called “import for individual needs”

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(pol. import docelowy) regulated by the Ministry of Health. Such products are recognized as necessary for saving a patient’s life or health but do not have marketing authorization in Poland. Procedures are regulated by three different acts: “The Act on the reimbursement of medicines, foodstuffs for particular nutritional uses and medical devices” (Dziennik Ustaw 2020, item 357), Pharmaceutical Law (Dziennik Ustaw 2020, item 944) and Regulation of the Minister of Health of 14 March 2012 on importing foodstuffs for nutritional uses from abroad, necessary to save life or health (Dziennik Usatw 2012, item 348). 14. Frequent snacks for LCHADD and VLCHADD patients are recommended to ensure adequate daily calorie intake, especially when children are active. 15. Patients and caretakers of people with rare disorders frequently report being treated as unknowledgeable by biomedical professionals and having their experiential expertise disregarded (see, for example, Grut and Kvam 2012). 16. This Venetian carnival mask together with a black hat and waxed gown belong to the commedia dell’arte character of the “Plague Doctor,” based on the clothing worn by late-renaissance doctors hoping to protect themselves from disease. During the COVID-19 pandemic this costume became a popular image in pop culture and on social media. 17. A thick vegetable stew from Hungary that traditionally contains yellow peppers, tomato, onion, and ground sweet and/or hot paprika. It is also well known in Poland, where sausage is commonly added. 18. Mothers are traditionally seen as primarily responsible for feeding children and attending to proper diet in Poland. Recent geopolitical changes (the economic shift of 1989 and EU accession) only amplified tensions relating to food values. As Zofia Boni (2021) has stated, contemporary Polish mothers are under unprecedented pressure due to the processes of individualization and responsibilization. On the role of mothers as experts in the dietary treatment of their children see Chowaniec, this volume.

Chapter 4

Between Standard and Experimental Knowledge Production and Tube Feeding Practices in Finland and Poland Małgorzata Rajtar

During one of our numerous lunches, Päivi,1 the mother of a girl with LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency, an inherited metabolic disorder (IMD)2, showed me a picture of a teddy bear that she had recently ordered for her daughter, Anu.3 This was not an ordinary teddy bear, though. Excited, Päivi told me about Tubie FriendsTM, a US-based nonprofit group that manufactures teddy bears and other stuffed animals specifically for children who have a feeding tube. This teddy bear had a gastrostomy tube inserted into its stomach just like Anu. The bear was to make it “easier for the child”—Päivi told me—“to identify with” her tube, which resonates with the philosophy of Tubie FriendsTM. Utilizing the slogan “Taking the fear out of feeding tubes, one Tubie Friend™ at a time . . . ,”4 the group’s goal is to make the process of receiving a feeding tube “less frightening” for children and the entire family. With this simple, yet brilliant concept of providing care and knowledge, Tubie FriendsTM caters to the ever-growing population of children who require a feeding tube. The US-based Feeding Tube Awareness Foundation (n.d.) estimates that there are over 400 medical conditions, including numerous genetic and metabolic disorders, that may necessitate tube feeding in children. In 2016, scientists assessed that about four in 100,000 children needed a feeding tube; this number was even higher for children with chronic conditions (Edwards et al. 2016, 616). By domesticating medical technology, 89

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Anu’s Tubie Friend™ shows her that life with gastrostomy can be normal or even fun. For her caregivers, the Tubie Friend™ provides practical knowledge in operating medical technology, and thus facilitates Anu’s well-being. Tubie FriendsTM intended its product to be “a teaching tool for family, friends, school nurses and caregivers”5 and Anu’s teddy bear turned out to be a well suited training device for nurses and caregivers at her Finnish kindergarten. Instead of using Anu’s body, they used her teddy bear. Päivi represents a growing number of “lay experts” (Epstein 1995). Lay experts are those patients and activists who have acquired scientific and medical knowledge that makes them “credible interlocutors of specialists” (Rabeharisoa, Moreira, and Akrich 2014, 113). Päivi participates in Finnish, Swedish, and English social media groups for patients with LCHAD deficiency and/or other fatty oxidation disorders as well as their family members, and thus she engages in the global production and exchange of “experiential knowledge” (Rabeharisoa, Moreira, and Akrich 2014). Both Tubie FriendsTM and the patient support groups in which Päivi and other parents have been engaged in, exemplify what Ayo Wahlberg (2018, 729) calls, “an upsurge in the production of knowledge about how it is to live with disease—morbid living.” “When healthy life is lost,—Wahlberg writes—it is morbid living that takes its place” (2018, 733). Building on Wahlberg’s call to examine “knowledge of living” (ibid.), I examine morbid living with medical technology in the context of IMDs. In this chapter, I attend to gastrostomy: a medical technology that delivers sustenance to those who are “unable or unwilling to ingest sufficient nutrition to maintain adequate body composition and growth” (Edwards et al. 2016, 616). First developed in the late 1970s, the technique of percutaneous endoscopic gastrostomy insertion (PEG or gastrostomy for short)6 entails the use of a gastrostomy tube, which is “an artificial device placed into an opening made through the abdominal wall and into the stomach lumen” (Heuschkel et al. 2015, 132). As a device implanted in the body, PEG may be seen as a part of a larger and diverse family of internal devices, such as pacemakers and implantable cardioverter defibrillators (ICDs), which scholars in social sciences and science and technology studies (STS) have recently focused on (Barlocco 2022; Oudshoorn 2015, 2020; Pollock 2008). Such devices, as Nelly Oudshoorn rightly observes (2015, 57), differ from external devices that have been extensively studied by STS scholars in the context of user-technology relations. Devices implanted in the body “involve lifelong processes of monitoring hybrid bodies to maintain the fusion of humans and technologies” (Oudshoorn 2015, 57). Yet, in the context of my research on rare metabolic disorders, gastrostomy occupies a liminal position. An internal device that is operated by an external pump and/or syringe allows a person living with a PEG (or more often their caregiver) to exert their agency;

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whereas technologies like heart-rhythm regulators do not (Oudshoorn 2015, 58; see also Barlocco 2022). In addition, gastrostomy is usually intended to be temporary rather than a life-long solution. In medical social sciences, gastrostomy and enteral nutrition (see below) have been studied in end-of-life contexts and have been associated primarily with the elderly, people with dementia or those with cancer (Frey et al. 2020; Pols and Limburg 2016). With some exceptions (e.g., Backman et al. 2021; Craig and Scambler 2006; Mårtensson et al. 2021), social scientists have overlooked knowledge discourses and practices of gastrostomy tube feeding in children and adolescents with chronic conditions and rare diseases. Yet, some children and adolescents with IMDs in Finland and Poland use this technology. I examine how this medical technology is being domesticated and standardized in Finland, while being “othered” and treated as experimental in Poland. Even though these two countries both recognize the European recommendations on enteral nutrition (see below) as being invaluable in the management of patients with IMDs, they differ significantly in their perceptions and practices of gastrostomy tube feeding. Nonetheless, both countries consider practices that are locally prescribed and supported by medical authorities to be standard for caregivers and users. I argue that scrutinizing this medical technology will shed light on how users appropriate or resist medical technologies in their daily lives, which, in turn, affects its standardization. My insights into gastrostomy are guided by two bodies of scholarship: anthropological engagement with (medical) technologies (Brunn and Wahlberg 2022; Hadolt, Hörbst, and Müller-Rockstroh 2012; Hardon and Moyer 2014; Kaufman et al. 2011; Koenig 1988; Lock and Nguyen 2010) as well as feminist-inspired STS studies on user-technology relations and the notion of the “rematerialized” cyborg as a human-technology hybrid that is imbued with vulnerabilities (Oudshoorn 2015, 58–60; Oudshoorn 2020; Oudshoorn and Pinch 2003; see also Haraway 1985). Anthropological engagement with technology offers several approaches to gastrostomy in IMDs. The conception of a “technological imperative,” first coined in 1968 by Victor Fuchs, suggests that “once a new technology is developed, the forces favoring its adoption and continued use as a standard therapy are formidable” (Koenig 1988, 467; see also Barlocco 2022; Kaufman et al. 2011). Barbara Koenig (1988), in her examination of the social processes that contributed to the introduction and development of therapeutic plasma exchange (TPE) in the United States and the UK, emphasized the evolving meaning of technology. Koenig called this process “routinization” and argued that through this social process, the meaning of technology changed for participants as they became accustomed to new biomedical technology. She further noticed that when therapies transitioned from

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experimental to standard care, the technological imperative became a moral imperative to provide such types of therapy: “Once a new therapy is available it becomes extremely difficult, if not impossible, to forego its use” (Koenig 1988, 486). Creating a moral imperative is the end point in the social process of routinization and indicates that a new technology has been accepted (ibid.). In her analysis, Koenig (1988, 476, 483) foregrounded what therapy (here: TPE) means to doctors: those who make decisions about its use. In doing so, however, she silenced the voices of other users, such as patients and their family members, and nonusers (Oudshoorn and Pinch 2003; Star 1990), whose understandings, as I will show in this chapter, may facilitate or impede the use of a medical technology. STS scholarship on user-technology relations emphasizes the need to examine the actual use of technologies in practice and insists on studying the co-construction of both technology and its users (Oudshoorn and Pinch 2003). Importantly for my case study, this scholarship equally underlines the significance of both users and nonusers in constructing symbolic meanings of technology as well as “in the stabilization and de-stabilization of technologies.” Both users and those individuals who resist technologies are “important actors in shaping technological development” (Oudshoorn and Pinch 2003, 18, 25). In feminist-inspired approaches, users are no longer perceived as a unanimous group of passive recipients; rather, they are characterized by their diversity and active approach to technologies. Furthermore, the notion of the cyborg (Haraway 1985) dismantles the strict boundary between the human and the technological. The cyborg, as Nelly Oudshoorn and Trevor Pinch put it, “implies a very specific configuration of user-technology relations in which the user emerges as a hybrid of machine and organisms in fiction and as lived experience” (2003, 7). More recently, some STS scholars have argued that in the relationship between humans and some medical devices, “user” may not be an adequate term. Rather than “configure(ing) the user” such implanted technologies directly affect their bodies (Oudshoorn 2015, 59; see also Barlocco 2022). Those scholars have foregrounded the marginalized materiality of cyborgs for whom “the material agencies of bodies and technologies are inextricably entangled” (Oudshoorn 2015, 59; Oudshoorn 2020). While I do not examine how the materiality of gastrostomy is co-produced in this chapter, I will show that the vulnerability of technology that is embedded in the cyborg’s materiality may play an important role in gastrostomy refusals. After introducing my research and the idea and uses of enteral nutrition, I first attend to the standardized use of gastrostomy in Finland. I show that health professionals perceive this medical technology as a “technological imperative,” and how parents of children with IMDs appropriated this understanding and contribute to the stabilization of gastrostomy use. Second, I

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turn to Poland. I examine how both health professionals and parents imbue gastrostomy with meanings that contribute to its use as an experimental technology. I continue by indicating that together with a “new generation” of health professionals, lay experts, such as parents of rare disease children, may destabilize this approach and contribute to the future standardization of gastrostomy in Poland. I emphasize that gastrostomy use in rare metabolic diseases is not only the result of implemented medical knowledge and established practices; it also emerges in a social context in which experiential knowledge of users and nonusers matters. A NOTE ON THIS STUDY AND RARE METABOLIC DISORDERS In this chapter, I draw from data that my co-researchers and I collected during ethnographic research in Finland and Poland between 2016 and 2023.7 Specifically, this includes the biographical and illness narratives of adults with rare metabolic diseases and/or families with children affected by rare metabolic diseases (n = 49 in Poland and n = 7 in Finland); semi-structured interviews with health professionals (mainly physicians, geneticists, and dietitians) (n = 27 in Poland and n = 9 in Finland); semi-structured interviews with patient organization representatives (n = 6 in Finland, n = 9 in Poland); interviews with Finnish rare disease experts (n = 2) as well as legal professionals (n =2) and gastroenterologists in Poland (n=2). All research participants gave their voluntary oral and/or written consent. While I tried to reach individuals and families in different parts of Finland, most interviewees lived in the southwestern region. In Poland, most interviewees lived in northern, central, and western Poland. Interviews were conducted in homes and hospitals, in cafes and offices as well as—especially during the COVID19 pandemic—via phone or communication apps, such as Zoom or Skype. Even though I only interviewed a small number of Finnish families, I was able to maintain long-term relationships with most of these families and with one patient organization representative over the years. To better understand the lived experiences of people with rare metabolic disorders, I also participated in culinary workshops (see Król and Ehmke vel Emczyńska-Seliga, this volume), conferences for the medical community and/or patients, and yearly Rare Disease Day8 celebrations (in person and virtually). My co-researchers collected data on Facebook groups that serve as an active arena for rare disease biosociality (Rabinow 1996). Additionally, I analyzed documents, such as European and national health policies on rare diseases, enteral nutrition, and dietary recommendations.

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Our research focused on inherited metabolic diseases (IMDs), in particular, fatty acid oxidation disorders (FAODs), organic acidemia disorders (OADs) and maple sirup urine disease (MSUD). IMDs comprise a large and diverse group of single-gene disorders that are individually rare. When aggregated, their estimated global birth prevalence is 50.9 in 100,000 live births (Pugliese et al. 2020). These are chronic, disabling, and possibly lethal medical conditions; they all have been diagnosed through newborn screening in Finland, Poland, and Sweden; in fact, the existence of newborn screening for these IMDs was one of reason for their inclusion in the study.9 Biomedically, they have overlapping symptoms that often occur in connection with fasting and may involve hypoketotic hypoglycemia, failure to thrive, cardiomyopathy, liver involvement, and even sudden death in infancy (Haglind 2016, 8–9; Immonen 2016). Managing these diseases involves life-long, clinically challenging dietary treatment (e.g., Haglind 2016; Immonen 2016; Sykut-Cegielska 2006). Nonetheless, treatment does not spare patients from hospitalization; they are prone to episodes biomedically known as metabolic decompensation that may include poor feeding or loss of appetite, lack of energy, and vomiting among others. Scientific literature emphasizes that patients with IMDs have “a higher incidence of eating disorders” (Bérat et al. 2021, 6). To put it bluntly: they have a low appetite and vomit frequently. Furthermore, “difficulties in oral feeding” are a recurrent feature of disease presentation, especially in patients with FAODs (particularly those with LCHAD deficiency) and those with GSDs (Bérat et al. 2021, 6; Rajtar 2017). Enteral tube feeding (ETF; see below) is considered “a key treatment component for children suffering from these diseases” (Bérat et al. 2021; Heuschkel et al. 2015). Indications for ETF include feeding difficulties and failure to thrive, fasting intolerance, and metabolic decompensation (see, e.g., Bérat et al. 2021). A recent analysis of ETF in patients with IMDs in France (n=190) showed that gastrostomy has become standardized and that it is “rarely declined by new patients” (Bérat et al. 2021, 9). As I will show later, these findings concur with the situation of IMD patients in Finland; however, the experiences of their Polish counterparts have been different. BACKGROUND: FEEDING “DEFICIENT” BODIES The history of tube feeding reaches back to ancient Egypt and Greece where rectal feeding was used to infuse solutions made of wine, milk, wheat or barley broth, and eggs to help chronically or critically ill patients until well into the late sixteenth century (Chernoff 2006). While in 1598, Capivaceus is attributed with the first ever direct feeding into the upper gastrointestinal tract

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(Chernoff 2006, 408), the modern era of surgical feeding tubes began a few centuries later, in the mid- to late 1800s (Minard 2006, 632). As a surgical procedure, the earliest gastrostomy was proposed and described by Sédillot in 1846 and 1849, respectively (Chernoff 2006; Minard 2006). As this procedure was plagued by complications, nasogastric feeding was more commonly used (Chernoff 2006). In the early twentieth century, the development of feeding techniques was accompanied by the invention of new feeding solutions, such as an infant feeding formula by the 1940s (Chernoff 2006, 409). In 1979, pediatric surgeon Gauderer and gastroenterologist Ponsky for the first time developed and performed the technique of percutaneous endoscopic gastrostomy insertion (PEG or gastrostomy for short), which is considered “the most important modern advance in the technique of inserting gastrostomies” (Minard 2006, 629). It is cost-effective as it can be used either in the operating room or at the bedside (ibid.). The development of PEG techniques has been viewed as “technical progress” on the one hand and as a shift “in care provision from acute settings to community settings” that facilitates home enteral nutrition on the other (Bérat et al. 2021, 6). In biomedicine, enteral tube feeding (ETF) or enteral nutrition simply means “delivering nutrition through a tube or other device” (Edwards et al. 2016, 616). In children who are “unable or unwilling to ingest sufficient nutrition” it is considered “necessary” to secure the child’s “adequate body composition and growth” (Edwards et al. 2016, 616). Along with providing long-term nutrition, gastrostomy is positively associated with shorter feeding times, the improvement of “nutritional status and growth” as well as with better “social functioning” and quality of life (Wiernicka et al. 2012, 561). Gastrostomy is recommended as “a safe and simple device” for enteral tube feeding lasting longer than three months (Bérat et al. 2021, 7). ETF is often understood as a life-saving and life-sustaining therapy; and, a similar narrative has been constructed by anthropologists who have conducted research among adults with gastrostomy in care-home settings, specifically people living with dementia and those in end-of-life situations (e.g., Pols and Limburg 2016). This biomedical and technoscientific approach to tube feeding foregrounds a technical solution to biological problems: gastrostomy is presented as a “fix” for failing bodily functions (see e.g., Hardon and Moyer 2014). In the words of one metabolic pediatrician in Poland, gastrostomy is recommended when “a patient is deficient (uszkodzony).” Biomedicine describes users of this technology as individuals whose bodies and relationship to nutrition is “deficient”; thus, biomedicine necessitates the use of gastrostomy to ensure their “normal” growth and development. As I will show in the remainder of this chapter, both Finland and Poland adhere to the same guidelines and recommendations on the use of gastrostomy, however, in practice, their implementation differs. I will juxtapose the situation in Finland, where tube feeding

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in children with rare metabolic diseases is standard and domesticated, with that in Poland, which features a more “experimental” approach. GASTROSTOMY IN FINLAND: THE STANDARD SOLUTION My observations and interviews strongly suggest that in Finland, gastrostomy is now “a key part in the management of children with feeding and nutritional issues” (Heuschkel et al. 2015, 139). This is consistent with the guidelines provided by the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN).10 Moreover, researchers who analyzed the diagnosis and treatment of people with LCHAD deficiency, which is the most common fatty acid oxidation disorder (FAOD) in Finland, emphasized the necessity of utilizing a nasogastric (NG) tube or gastrostomy around the clock to “facilitate nutrient infusions” for “some younger patients” (Immonen et al. 2015, 550). They concluded that gastrostomy not only benefited infants and small children, but it also “allowed prolonged night-time sleep for parents”; in addition to this, it actually “improved the patients’ dental health and weight control” (Immonen et al. 2015, 553). My interviews with doctors who specialize in rare metabolic disorders in Finland overwhelmingly agreed on this therapeutic approach. Thus, following their diagnosis via newborn screening or—as in the case of Päivi’s child—after their first metabolic crisis, infants and children are initially fed via NG tube, and later with a gastrostomy tube. When we discussed this issue, Päivi highlighted that she “cannot imagine what would happen if someone was to refuse gastrostomy.” Olli, another parent, also considered gastrostomy to be a “pretty standard” procedure and praised the “good instructions” on using gastrostomy that he and his wife received at the hospital. Like other children with LCHAD deficiency, Päivi’s daughter, Anu, was first fed via a NG tube and later with a G-tube. As Päivi put it, “after the diagnosis, there was no time without a tube, either the gastrostomy or the NG [tube]. She [Anu] had the NG until she was about 5 months old and then they installed the gastrostomy.” As a result, Anu is “never hungry.” Päivi understood gastrostomy to be a “standard procedure”; since parents who were active on social media had not complained about it, she assumed that they had accepted its use. On another occasion, she described gastrostomy as an “essential part of the treatment.” I was curious to learn how doctors in Finland and Poland introduce gastrostomy into their conversations with parents. In both countries, doctors admitted that parents are initially hesitant. For instance, when asked about how parents approach gastrostomy, one doctor who works in a hospital clinic in a large city in Finland said that “parents don’t like it before [their children]

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receive it, but once they have it, they like it.” Ellen Backman and colleagues (2021, 1601) made a similar observation in their study of Swedish parents who initially felt “reluctant and anxious about the G-tube,” but once the gastrostomy tube was inserted into their child, they felt that it was “a source of relief.” The Finnish doctor emphasized the need for gastrostomy in children with rare metabolic disorders, specifically LCHAD deficiency, because “they cannot eat as much as they need to” and generally these children “aren’t as good of eaters as other children.”11 According to him, gastrostomy also facilitated the wellbeing of parents; as he put it: “we want parents to be able to sleep.” In his view, doctors play a crucial role in providing knowledge about the disease and treatment in IMDs. “Finns—he said—need to understand why. Then we are very good at following orders.” For Olli, the wellbeing of caregivers and their ability to work were equally important reasons for using feeding tubes. When he first mentioned gastrostomy, Olli said” “You have to get gastrostomy. [I mean] you don’t have to, but it is suggested that maybe it is a good thing.” Later during our interview, he said: Olli: You can probably imagine that we were pretty tired after waking up every three hours to give milk (. . .). We were tired. And we were told that before he [the child] is one year old you should consider this. Because when we both go back to work it’s probably not the best idea to wake up every three hours to give milk. So you can sleep the whole night. (. . .) Researcher: Why did they say that before the first year? Olli: Because after the first year your maternity leave ends, and you have to go [back to work]. Researcher: So there is no medical reason [for that]? Olli (laughing): No, you can give milk every two hours for the rest of his life if you want to but it’s going to be pretty rough. And, of course, this is a safety procedure because probably two times, it was always on my watch that I didn’t wake up when the alarm went off. But my wife always wakes up and she came to wake me up.

While some Foucauldian inspired anthropologists may read the doctor’s statement above as a coercive and imposing biomedical understanding of the body (e.g., Hardon and Moyer 2014, 108), I propose that gastrostomy emerges as a “technological imperative” here (Koenig 1988; see also Barlocco 2022). As gastrostomy has passed its experimental stage and has become a standard therapy in Finland, it is the doctor’s moral imperative to provide such a standard of care. Koenig (1988, 486–490) observes that the meaning of a new technology and its eventual implementation as a standard therapy is not the straightforward result of scientific tests on the safety and

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efficacy of technology, but rather a social construction, in which economic assessment, political considerations, and the doctor’s opinion play an important part. The fact that gastrostomy has been standardized in treatment of IMDs, which Finnish parents even perceive as “essential,” is embedded in the high levels of trust that the public holds in science, experts, and expertise in general. Social science scholars and surveys regularly confirm that both biomedical research and the authority of medical experts in Finland are highly valued (see e.g., Snell and Tarkkala 2019; Tupasela 2007). In a recent survey on “European citizens’ knowledge and attitudes towards science and technology” (Eurobarometer 2021), 93 percent of Finns were either “very interested” or “moderately interested” in new medical discoveries and 91 percent were equally interested in new scientific discoveries and technological developments. In comparison, the results for Poland were much lower and yielded only 62 percent in both categories. Along with the welfare state’s ability to provide equal access to healthcare services and social benefits, the high level of trust between experts and the public is, as Aaro Tupasela (2007, 74) argued, “in part due to the strong traditions that the medical community has had in studying, characterizing and treating rare monogenic diseases that are over-represented in the Finnish population.”12 While standardized and domesticated (Oudshoorn and Pinch 2003) in Finland, gastrostomy may still be considered an experimental treatment in Poland as I show in the next section. GASTROSTOMY IN POLAND: AN EXPERIMENTAL TREATMENT Polish scholarship on enteral nutrition in children also references the European Society for Clinical Nutrition and Metabolism (ESPEN) and the ESPGHAN guidelines on pediatric enteral nutrition (2005/updated 2018) (e.g., Wiernicka et al. 2019; Wiernicka et al. 2012). Accordingly, PEG is considered “the preferred method” in the treatment of “children with insufficient oral intakes” (Wiernicka et al. 2019, 1545). A retrospective multicenter study of 302 Polish children with PEG showed that the introduction of a gastrostomy tube “significantly improve[d] the quality of life of families” (Grzybowska-Chlebowczyk et al. 2015, 106). Nonetheless, other studies indicated that neurological disorders, rather than IMDs, constituted the overwhelming majority (84 percent) of all indications for enteral tube feeding in Poland (Wiernicka et al. 2012).13 This latter study emphasized that parents’ “negative attitude toward PEG and PEG related procedures” led to the prolongation of feeding via NG tube (Wiernicka et al. 2012, 563). While the nasogastric tube (NG) is considered a temporary solution to feeding problems, gastrostomy is used in long-term care. Gastrostomy, Professor

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Kowalski, a gastroenterologist who works in a large, specialized hospital in Poland explained, is recommended when a patient will require tube feeding for more than six to eight weeks. Prof. Kowalski continued: The method of feeding is determined by whether it will be more convenient to feed via gastrostomy or not. First, we try to consider whether a substance that we must administer in a particular way and at certain intervals, [if it] can be administered without gastrostomy. Sometimes the [NG] tube has a smaller diameter, so it will be technically difficult to deliver some substances via this tube. The diameter of the gastrostomy tube is larger and it’s easier to deliver some substances [that way].

What constitutes the deciding moment and who has the power to implement this biomedical technology? Invoking medical authority and expertise (see Koenig 1988), Professsor Kowalski added that it may be implemented “when a caregiver spends 6–8 hours a day feeding their charge (podopieczny). In that case, we know that we have to find a solution because the caregiver does nothing else but feed their charge; then we insert gastrostomy.” I reference these data to highlight that the existence of nutritional recommendations, as anthropologists have shown time and again, does not necessarily translate into their implementation in practice (see, e.g., Yates-Doerr 2015). As I will show in the remainder of this section, this also applies to knowledge about gastrostomy use and its implementation in pediatric patients with IMDs in Poland. Like their Finnish counterparts, Polish doctors and dietitians admitted that parents were hesitant about gastrostomy. Unlike Finnish parents, however, most Polish parents often questioned the need to insert gastrostomy and perceived it as their personal moral failure to feed their child. A dietitian who works in a specialized hospital in Poland emphasized that gastrostomy “is certainly not considered a norm.” She continued: “This is a kind of last resort (ostateczność). Well, parents also consider it a last resort. Parents always struggle to find ways to feed their kids in different ways. They are afraid” (Rajtar 2017; see also Craig and Scambler 2006). This view was echoed by Dr. Nowak, an enthusiastic gastroenterologist working in a Polish hospital clinic; he emphasized that “most often parents are against it; their child does not have gastrostomy and they would do anything to avoid using it.” He described how parents always asked him if gastrostomy was “actually necessary,” to which he responded: “if it wasn’t necessary, we wouldn’t have proposed it to begin with.” According to Dr. Nowak, the growing use of gastrostomy in some diseases in Poland is a very recent development that has required clinics to shift their general approach. He recounted how his clinic would threaten parents with gastrostomy: “You know, if your child won’t eat,

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we will have to insert a feeding tube and we will have to feed them via the feeding tube.” This “completely erroneous approach,” as he put it, resulted in parents feeling guilt and a sense of failure, and this approach has gradually been abandoned. Nowadays, parents are presented with the positive benefits of gastrostomy tube feeding and if necessary, are put in touch with other families who “have been down the same path and have had similar experiences.” Dr. Nowak explained that once a child is put on gastrostomy, “its advantages are rather obvious to everybody as is the reason behind inserting it.” Nonetheless, while the nasogastric (NG) tube has emerged as a necessary companion for many infants and children with LCHAD deficiency and other FAODs in Poland whom I encountered during the fieldwork, the gastrostomy tube and specifically the PEG tube were seldom utilized. Asked if she would agree to employing a nasogastric tube or gastrostomy, Mrs. Beata, the mother of a child with a FAOD in Poland, admitted: Mrs. Beata: This is my constant fear: that this will happen to us if our child refuses to eat and well, this may happen if he just stops eating. (. . .) Researcher: Have doctors mentioned it at all? Mrs. Beata: Well, yes. Last year, when we had his first decompensation, our son didn’t eat anything; he was just fed glucose. Doctors were already considering it an option as he didn’t eat for such a long time. But my husband and I were patient and stubborn, and he slowly started to eat his cornmeal [kaszki] and fruit, whatever he likes to eat. We were eventually successful; he started to eat in the hospital too.

Recounting the experiences of her knowledgeable friend, whose child also has a FAOD and first received a PEG insertion after experiencing metabolic decomposition, Mrs. Beata—like other Polish parents—identified the divorce of food from oral intake as the most disagreeable aspect of gastrostomy (see Chowaniec-Rylke 2018; Craig and Scambler 2006). As she succinctly put it: “children stop using their mouths to eat.” Even grandparents can operate the gastrostomy tube, and Mrs. Beata was neither in denial of the convenience that gastrostomy provides nor its potential to “solve many of our problems.” Nonetheless, these parents were willing to go to any length to avoid using this technology, even if it meant spending hours on a single feeding session. This is well exemplified in a conversation with Mrs. Anna, whose child has a FAOD. When asked about nasogastric tube use, Mrs. Anna offered her insight on PEG usage instead: Mrs. Anna: It wasn’t necessary in our case. When he was small, even on those occasions when Jan ate little, which was often, he drank milk. And I sat and sat with him and forced him [to drink that milk] till he drank as much as he had

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to. (. . .) Our doctor X. is skeptical towards PEGs and he has never suggested them. This is always a foreign object and it facilitates infections. In this disease, infections are bad. (. . .) Researcher: So, he argued that there is a possibility of infection? Mrs. Anna: That there is a possibility of infection. In these diseases, this would mean certain death because you cannot utilize standardized treatment to make the child better again.

Over time, Mrs. Anna has become more skeptical about the doctor’s recommendations in general, such as the necessity of going to the hospital every time her son is ill. Even so, she did not question his professional judgement regarding gastrostomy. Similarly, the notion of gastrostomy as an “‘alien’ object” and as “something not ‘natural’” was voiced by UK mothers of children with cerebral palsy and/or syndromes of chromosomal or genetic origin (Craig and Scambler 2006, 1119). One mother recalled her dietitian describing PEG as “a foreign object in the belly, a congregation of bacteria.” This was a common trope in a number of interviews with caregivers in Poland. I argue that this contributed to othering gastrostomy tubes as devices that do not belong (and could not belong) to the body and as a potential threat to the child’s health. As Mrs. Beata said earlier, gastrostomy can potentially “solve many of our problems” while simultaneously causing others, such as infections. Gastrostomy’s complications may be considered as “unintended consequences of technologies” (Oudshoorn 2020, 37; Pols 2017). Finnish parents, who actually used the technology, only rarely complained about the complications in gastrostomy, such as leakage around the stoma. Their Polish counterparts, however, who had refused gastrostomy, frequently cited bacterial infections as one of the reasons behind their decision. In their view, the agentive activity of microbes (see Benezra et al. 2012; Landecker 2016) could endanger the positive relations between patients and technology (i.e., gastrostomy but occasionally also nasogastric tubes). With gastrostomy, the body is commonly viewed as being more vulnerable to microbes. In her book on the transformative quality of technology, Oudshoorn (2020, 39) forcefully argues that potentially life-saving technologies implanted in the body, such as pacemakers and defibrillators, “transform(s) the fragile body by introducing new vulnerabilities”; this “involve(s) the fragility of bodies as well as technologies.” She further highlights that this “vulnerability and resilience of everyday cyborgs is (. . .) constituted and achieved in a complex interplay with the materiality of bodies, technologies, and the socio-technical environment” (Oudshoorn 2020, 46). The gastrostomy feeding tube constitutes one more example of a life-saving technology that

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simultaneously makes the recipient’s body more fragile and more vulnerable to a host of non-human agents, such as bacteria. Health professionals occasionally discouraged Polish families from engaging with technology and/or were themselves opposed to gastrostomy tube feeding. Like Mrs. Beata and Mrs. Anna, parents oftentimes believed that their care (“normal” feeding) was superior to that facilitated by technology; moreover, they thought it would show their inability to feed their children. This view was amplified in the clinic where Dr. Nowak worked. In Poland, to “care ‘correctly’” (Lavis et al. 2015, 6) for children with rare metabolic diseases means that parents deprive themselves of sleep. They must feed their children, who are reluctant to eat or do so excruciatingly slowly, several times during the night. In a way, parents are not considered and do not consider themselves “independent” but rather “an extension” of their children (see Chowaniec, this volume; Rogalski, this volume). In standardizing and stabilizing technologies, Oudshoorn and Pinch (2003) emphasized that both users and nonusers matter. In the case of the latter, resistance and nonuse are not “irrational, heroic, or involuntary” but rather “rational choices” that are made when “the symbolic meanings attached to the technology by its producers and its promoters do not correspond to the gender relations, the cultural values, and the identities of specific groups of people” (Oudshoorn and Pinch 2003, 19). When parents—and occasionally doctors—resist technology, they expressed that only they can provide good care by feeding their child “naturally,” rather than with technology. They further emphasized that by exposing their children to microbes, gastrostomy introduces new vulnerabilities and may endanger the wellbeing of their child. Finally, surveys regularly show that, unlike Finns, Poles are unlikely to trust the healthcare system (Makowska et al. 2022; Marczewski 2020)14; in addition, 37 percent of Poles are neither interested in new medical discoveries nor in new scientific discoveries and technological developments (Eurobarometer 2021). LAY EXPERTS AND THE FUTURE STANDARDIZATION OF MEDICAL TECHNOLOGIES Conducting ethnographic research allowed me to follow research participants for a lengthy period of time. This, in turn, elucidated how the use and meaning of gastrostomy is becoming destabilized for people with IMDs in Poland (Oudshoorn and Pinch 2003). In 2017, a metabolic pediatrician who works in a specialized hospital in Poland admitted “I think that here, in Poland, we don’t insert gastrostomy often enough; we deem it invasive. This is an invasive procedure indeed.” The doctor, however, was aware that in some other countries, such as the UK, gastrostomy is a rather standard procedure in

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certain IMDs. In this doctor’s view parents’ misunderstanding of this medical technology was one of the main reasons for the lack of standardization. She argued that “parents have their misgivings [about the procedure] too: making such a large hole in the stomach and feeding through it with a large syringe. They oftentimes disagree to this. We had such cases, however, where parents didn’t want [gastrostomy], but we convinced them otherwise.” In statements like this, doctors juxtapose health professionals as those who possess knowledge about PEG and are willing to implement it in practice with parents who lack scientific medical knowledge (see Lambert and Rose 2003). During my research, however, I noticed that this approach to technology and its meanings started to change; some parents have become actively engaged in implementing technologies and some physicians have increasingly acknowledged their engagement. Dr. Nowak, the enthusiastic gastroenterologist mentioned previously was representative of the “new generation” of pediatric specialists who acknowledge the role of parents in facilitating gastrostomy. In 2021, reflecting on the changes that have occurred in the Polish gastroenterology landscape within the past few years, the doctor emphasized the key role that parents (mainly mothers) of children with rare diseases play. Borrowing the term from population genetics, the doctor likened the activities of activist parents to the “founder effect.” In short, having knowledge of foreign languages (specifically English) and being active on international patient social media platforms, activist parents share their experiences using gastrostomy tubes in rare disease children with doctors in Poland.15 Furthermore, they insisted on expanding the use of gastrostomy tubes to include a growing number of pediatric rare disease patients. According to Dr. Nowak, rather than systematic healthcare solutions, this “strong parent lobby” on individual doctors has contributed to the development and increased usage of enteral nutrition in rare disease patients. This doctor recounted a mother who regularly views the PUB Med website looking for new scientific articles on her child’s rare disease. Valuing her expertise and knowledge on that particular rare disease, Dr. Nowak would ask her about the newest research and treatment developments during the child’s check-ups. This mother well exemplifies a “lay expert” (Epstein 1995). Dr. Nowak’s positive, albeit occasionally critical view of gastrostomy as an “easier and much more human” feeding technology was accompanied by his appreciation of parents: “Parents play a major role here; this is a cascade effect. Parents who have some misgivings seek out others who have had good experiences [with gastrostomy]. (. . .) This encourages them to make such a decision themselves. This is my opinion. Additionally, social media that have developed in recent years, have spread the news about people with feeding ports (dojścia żywieniowe) who function and live [well].” Dr. Nowak continued: “people are associated in international

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parent social groups; they demand from us, the doctors, [implementing] certain solutions that have been introduced in Europe. This is why we have had such great advancements in care for rare diseases in the recent 5 years. This is definitively thanks to the parents.” As he is relatively young and has received training abroad, Dr. Nowak is in no way representative of all health professionals who treat people with rare diseases. Nonetheless, he represents a growing number of—often younger— clinicians who engage in dialog with patients and/or their caregivers. His experiences also confirm the growing process of what Regula Burri and Joseph Dumit (2007) called the “socialization of biomedicine.” According to these social science and STS scholars, the “socialization of biomedicine” refers to “the processes by which society gets involved in medical knowledge production and diffusion” (Burri and Dumit 2007, 4). This translates into the increased involvement of lay people in research that, as a number of scholars have shown (e.g., Epstein 1995; Rabeharisoa, and Callon 2004), challenges scientific authority and contributes to the emergence of new modes of knowledge production. Rabeharisoa and her colleagues (2014) introduced the notion of “evidence-based activism.” According to Rabeharisoa, Moreira, and Akrich this concept captures “patients’ and health activists’ groups’ focus on knowledge production and knowledge mobilisation in the governance of health issues” (2014, 1). Patients (or parents in this study) are no longer passive recipients of biomedical knowledge; rather, they actively engage in biomedical research and treatment and, in some cases, influence their trajectory. I argue that in the case of rare diseases in Poland it is both medical professionals and lay experts who may eventually contribute to the future standardization of gastrostomy in IMDs. CONCLUSION I opened this chapter by evoking Anu’s Tubie Friend™: a teddy bear with a gastrostomy tube that Päivi, one of my Finnish interlocutors, purchased for her daughter with a rare metabolic disease. This teddy bear provides care and knowledge on living with disease, or what Wahlberg calls “morbid living” (2018) by domesticating technology. Like other patients with certain IMDs in Finland and Poland, Anu’s condition makes her less likely to eat and more likely to suffer from episodes of metabolic decompensation that may be life-threatening; thus, it subjects her to a special dietary treatment. In Finland, for children like Anu, implanted gastrostomy is indispensable as it provides adequate nutrition, ensures “normal’ development, prevents fasting, and facilitates the wellbeing of both patients and their parents. Dependent on this implanted technology, these children live their lives as cyborgs

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(Oudshoorn 2015, 2020). This chapter shows how both healthcare professionals and parents of children with IMDs in Finland perceive this medical technology as a standard treatment for some IMDs (see Bérat et al. 2021 for France). I argue that Finnish doctors view gastrostomy as a technological and moral imperative (Koenig 1988). Furthermore, they operate in a social context that is imbued with high levels of trust in both experts and new medical technologies. This stabilizes gastrostomy as standard therapy in rare metabolic diseases. In contrast, while Polish healthcare professionals use the same guidelines on enteral nutrition in pediatric patients as their Finnish counterparts, they sparingly practice gastrostomy in patients with IMDs; thus, in Poland, gastrostomy in rare metabolic diseases may be considered an experimental therapy. Some doctors and scholars argue that parents are generally resistant to this medical technology; they perceive it as a “foreign body” that may introduce new vulnerabilities (Oudshoorn 2020) and, in moral terms, it reveals their failure as good carers. As I illuminate in this chapter, these parents are not unique in their resistance to gastrostomy; in fact, some metabolic pediatricians share their view and some clinics used to propagate it. I argue that the Polish case well exemplifies how meanings, with which nonusers imbue medical technology, may influence its stabilization as an experimental technology (Oudshoorn and Pinch 2003). I also show that a new generation of doctors and lay experts may eventually change the meaning and use of gastrostomy in IMDs in Poland. In Poland, gastrostomy “sustain(s) life” (Wahlberg 2018, 729) by providing adequate nutrition and preventing metabolic crisis. Knowledge of living with gastrostomy that is produced and circulated by patient support groups and/or among parents both strengthens this narrative and—increasingly— undermines it. In Finland, however, gastrostomy is also about living life; it facilitates wellbeing and quality of life for both young patients with rare metabolic diseases as well as their parents. REFERENCES Backman, Ellen, Mats Granlund, andAnn-Kristin Karlsson. 2021. “Parental Perspectives on Family Mealtimes Related to Gastrostomy Tube Feeding in Children.” Qualitative Health Research 31 (9): 1596–1608. DOI: 10.1177/1049732321997133 Barlocco, Fausto. 2022. “The Friend Within? The Implantable Cardioverter Defibrillator Between Saving Lives and Chronically Impairing Them.” Anthropology & Medicine 29 (1): 61–75. DOI: 10.1080/13648470.2022.2041548

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NOTES 1. Throughout the text, I use pseudonyms to protect the privacy and confidentiality of research partners.

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2. I will use the term “inherited metabolic disorders” (IMDs) interchangeably with rare metabolic diseases or disorders. 3. I would like to express my deepest gratitude to all research participants in Finland and Poland for sharing their time, knowledge, and experiences with me. I thank my co-researchers in the projects, Anna Chowaniec, Jan Frydrych, Anna Kwaśniewska, Katarzyna E. Król, and Filip Rogalski for their contribution to the research and our discussions as well as Ewa Ehmke vel. Emczyńska Seliga for our inspiring collaboration. The writing of this chapter was made possible by a grant from the National Science Centre in Poland (Grant no. 2017/26/E/HS3/00291). 4. https:​//​tubiefriends​.com​/main​/ (Last accessed February 21, 2023). 5. https:​//​tubiefriends​.com​/main​/about​-us​/ (Last accessed February 21, 2023) 6. During my fieldwork, research participants (especially caregivers) used these terms interchangeably. 7. Research was funded by the National Science Centre in Poland under grants [2015/17/B/HS3/00107 and 2017/26/E/HS3/00291]; and the EURIAS Fellowship Programme (Co-funded by Marie Skłodowska-Curie Actions, under the 7th Framework Programme) at the Helsinki Collegium for Advanced Studies in Finland. The first grant focused solely on one IMD: LCHAD deficiency. While research in Poland was conducted by two groups of researchers within the grants, in addition to collecting data in Poland, I was the sole researcher in Finland. Additionally, research in Sweden was conducted by a postdoctoral researcher (see Rogalski, this volume). 8. Introduced in 2008 by the EURORDIS-Rare Diseases Europe, since 2009, Rare Disease Day has been celebrated globally on the last day of February. 9. Along with phenylketonuria (PKU, see Chowaniec, this volume), MCAD deficiency is one of the most common IMDs (Pugliese et al. 2020). Finland and Poland have both adopted the European Union definition of a rare disease as affecting 1 in 2000 individuals. Nonetheless, neither Finland nor Poland has a national registry for IMDs. In Finland, LCHAD deficiency is the most common mitochondrial fatty acid b-oxidation disorder (FAOD). Its carrier frequency is estimated between 1:132 to 1:365 (Immonen et al. 2016). Available data show that twenty-eight and sixteen patients were diagnosed with LCHAD deficiency in Finland between 1976 and 1996, and between 1997 and 2010, respectively (Immonen et al. 2016). The birth prevalence of LCHAD deficiency and FAODs in Poland is estimated at 1 in 120,000 and 1–5 per 20,000 respectively. The birth prevalence of MCAD deficiency, the most common FAOD in Poland and elsewhere—except Finland—is estimated at 1 in 14,600 (Rokicki 2020). 10. The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) promotes “the health of children with special attention to the gastrointestinal tract, liver and nutritional status, through knowledge creation, the dissemination of science based information, the promotion of best practice in the delivery of care and the provision of high quality education for paediatric gastroenterology, hepatology and nutrition professionals in Europe and beyond” (https:​//​www​ .espghan​.org​/home; accessed March 14, 2023) 11. Some Finnish doctors, as I noticed, were not as much concerned about the technology itself; rather they complained about the lack of clear guidelines on when

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to stop using gastrostomy in older children (i.e., older than eight to twelve years old). A few doctors in Poland were equally puzzled. 12. This topic exceeds the scope of this chapter, see for instance, Tupasela 2016. I address the issue of the construction of small rare disease populations in Finland and Poland in Rajtar 2023. 13. A retrospective multicenter study of 302 Polish children with PEG established that neurological and metabolic disorders constituted 58.9 percent (178 out of 302 cases) of all indications for PEG tube placement (Grzybowska-Chlebowczyk et al. 2015). An earlier study of a group of 349 Polish children with PEG, however, indicated that children with metabolic disorders constituted only 29 out of 349 cases (Wiernicka et al. 2012). 14. Trust in individual doctors is usually higher though; this is particularly the case in rare diseases. I observed that parents of children with IMDs usually trusted their child’s metabolic pediatrician (see also Rogalski, this volume). Depending on the healthcare center, however, parents’ trust in dietitians was much more ambivalent. In addition, parents seldom trusted healthcare professionals who staffed emergency departments and/or non-specialized clinics. 15. This characterization would apply to Päivi, whose daughter, however, has already benefited from the standardization of PEG use in Finland.

Chapter 5

Entangled and Layered Temporalities Rare-Disease Patients’ Expectations about Clinical Gene Editing Karoliina Snell, Roosa Harmo, and Kirmo Wartiovaara

THE POTENTIAL OF GENE EDITING FOR RARE DISEASES CRISPR-Cas9-based gene editing technologies have been hailed worldwide as promising or disruptive technologies leading to a revolution (Dimond et al. 2021) that can potentially cure many serious diseases. Research has shown that gene editing can correct mutations in patient cells and thus possibly cure diseases, not only their symptoms (Maldonado et al. 2021). In the future, these technologies could lead to clinical applications, especially for patients with monogenic diseases. Thus, gene editing creates a potential for new treatments of rare diseases. Currently, the majority of rare genetic disorders lack effective and accessible therapeutic interventions, but the promises of gene editing and other gene therapies still lie in the future. Several types of gene therapies have been tested in thousands of clinical trials, but in 2023, only seven authorized gene therapy products are available for the treatment of inherited diseases in the European Union (Paul-Ehrlich-Institute 2023; Maldonado et al. 2021). Many researchers are optimistic about the potential of gene editing and other gene therapies, however, and a survey showed that most researchers in the field believe gene therapies will become the standard of care for rare diseases in less than fifteen years (Braga et al. 2022). 113

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The promise of genome-editing therapies is significant. The technology could be deployed to correct disease-causing mutations in individuals’ tissues post- or prenatally (somatic genome editing) or in pre-implanted embryos in vitro, or gametes (germline genome editing). Although genome editing has the potential to improve people’s lives, its use is not without challenges related to both somatic and germline editing. The challenges concern individual patients as well as technical, ethical, financial, and social aspects of care. The international academic community has considered heritable human genome editing highly risky or even irresponsible because it involves too many dangers (Chan 2020). Many claim that the risks of genome editing in humans are not well enough known to allow for the practice. Research shows technical risks of genome editing, such as off-target mutations possibly leading to cancer or other serious side effects (Ormond et al. 2017; Davies 2019). There are also concerns that genome editing aiming to correct disease mutations might pave the way for nontherapeutic genome editing and eugenics, targeting traits instead of diseases (Segers and Mertes 2019). Another concern relates especially to rare diseases and the safety of genome editing. Due to the small number of patients in each disease group, it is not possible to go through the same procedures as for clinical trials in larger populations, and small patient populations provide little statistical power (Iyer et al. 2021; Rajtar 2023). Another worry is that human genome editing might increase inequalities and discrimination because only individuals and societies with resources and expertise can benefit from the technology (Baylis and Ikemoto 2017; Andorno et al. 2020). The challenges related to inequality of care and the cure of rare diseases are not only technical or related to ethics of new technologies but are related to how healthcare is organized. One of the identified problems in the care of rare disease patients in Finland receive has been the regional differences in resources and access to care, which has meant that not all services are available throughout the country. In response, the Ministry of Social Affairs and Health (2014, 2019) published a national program for rare diseases in 2014 and an updated version in 2019. The principal aim of these programs was to improve the inclusion and everyday coping of people with rare diseases and to enhance the equity in access to services. We approach the potentiality, benefits and challenges of genome editing from the viewpoint of rare disease patients, who could potentially be among the first to encounter care through gene editing. We answer the calls to include in the conversation those whom new technologies of care affect (Ormond et al. 2019; Kerr and Cunningham-Burley 2015). The focus of this article is understanding how people diagnosed with a rare disease evaluate and reason willingness to undergo potential future treatment and what kind of aspects in their lives influence their reasoning. Being a patient in the

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present-day postgenomic era is loaded with moral and political decisions, social practices and promises of new technologies. It needs to be understood how potential subjects of new curative technologies experience and value these practices, choices, and process. It is important not only for them but also for understanding the normalisation of a new technology. But the focus should not be only normative aspects, regarding whether patients or healthcare systems have and use new therapies, but also how bodies, emotions, personal relations, history and subjectivity feature in discussions and decisions about biomedicine and new therapies (Kerr and Cunningham-Burley 2015). An important element in understanding this constellation is temporality, how the past, present, and future interact when a potential new cure is being discussed and how future expectations do not necessarily follow the same time trajectory that healthy and able-bodied people come to recognise as the normal passing of time (Kafer 2013). Analysing gene editing as a cure by focussing on temporal aspects is justified because the technology exists, but the cures remain in the future. Slesingerova (2021, 33) states, “The main aim of such technologies is to explore the possibilities of repairing damage to human DNA and of healing or enhancing human bodies and health in the future, in not-yet-realized, future bodies.” PATIENTS—PAST, PRESENT, AND FUTURE The future holds possibilities for curing diseases, and there is a popular understanding that patients desire to be cured at all costs and becoming normal or able-bodied is a goal everyone burdened with disease or disability shares—a disease-free future in which illness was only a passing phase (Berghs 2022). Healthcare systems are also organized around this idea (Green and Lynch 2022), which resonates well with the classical idea in medical sociology—the sick role developed by Talcott Parsons (1951). The sick role describes how patients’ normal roles and responsibilities are suspended until health is reinstated. The sick role also implies that the patient not only needs to seek help but also wants to be cured and has the responsibility to try to become healthy again. In connection to this idea, Clare (2017) writes about the “ideology of cure” and emphasizes the current social and institutional pressures surrounding illness, disability and impairment needing to be cured and fixed. Similarly, Berghs (2022) discusses the “logic of cure,” which has normalized the imperative of cure. Social research has shown, however, that the issue of wanting and attaining a cure is a more multifaceted concern, and the route to a cure is more direct with some bodies, people, and diseases than with others (Green and Lynch 2022). The desire for a cure is also an issue related to time—past, present,

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and future. Past experiences of treatment, illness, and other life events are entangled with present conditions, and future expectations affect the desire for a cure. Instead of understanding time as linear, people experience time through layered temporalities (Lewis et al. 2022; Green and Lynch 2022; Krogager Mathiasen et al. 2020; Plage and Kirby 2021), which means that events in the life course, such as diagnosis, poverty, and childlessness, are not past events but ongoing temporalities that influence current life and possible futures (Helosvuori 2020; Green and Lynch 2022). Future expectations can also be multiple and contradictory. Mattingly (2019) describes how parents with terminally ill children are on one hand living just “day to day” but also sustain an idea of a long future by hoping for a miracle. The concept of “crip time” has been used in queer and disability studies to describe time as an embodied subjectivity rather than an objective feature. The idea of crip time also deviates from the linear understanding of time, or what society usually expects to constitute a life course (Kafer 2013.) Future expectations and conceptions of time are shaped by personal embodied experiences as well as collectively shared ideas or anticipatory regimes (Adams et al. 2009), but as Stephan and Flaherty (2019) note, lived time and “clock time” do not always correspond with each other. Similar to the concept of crip time, they call attention to the first-person perspective of time and futurity and introduce the idea of anticipation as lived experience. Collective ideas of time affect how individuals conceive time and the future, but anticipation is not just a reaction; it is “a way of actively orienting oneself temporally” (Adams et al. 2009, 247). Rare diseases are an intriguing example of how complex and tangled the idea of a cure is and how time plays a multilayered role in seeking care and a cure. Despite increased knowledge and new technologies, the diagnosis of most rare diseases remains complex, and diagnosis is often delayed (BenitoLozano et al. 2022). People suffering from rare symptoms might have to embark on a long “diagnostic odyssey” (Duran 2021). Temporalities and uncertainties related to diagnosis or the onset of an illness, especially of genetic diseases, have received major attention in the social science literature. Researchers have conducted studies, for example, on the experiences of people who are waiting for a diagnosis or symptoms to start. Concepts such as “patients-in-waiting” (Timmermans and Buchbinder 2010) and “pre-symptomatic patients” (Konrad 2003) have been developed to describe the liminal state between health and illness or pathology and a state of normalcy. These concepts have been applied in relation to monogenic diseases as well as in receiving and managing risk information regarding common multifactorial diseases. Timmermans and Buchbinder (2010) argue that patientsin-waiting can be used as an overarching concept to illuminate common experiences among people confined between a state of sickness and health

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characterized by uncertainty about disease—a liminal state they describe as prolonged diagnostic uncertainty. Diagnostic uncertainty and delayed diagnosis are, however, especially relevant for rare diseases. After diagnosis, the person’s present and future become entangled in yet another way. Often, illness interrupts individuals’ expectations and plans for their future. Diagnosis and prognosis can lead to reorganisation of everyday life and even widespread biographical disruption (Bury 1982). Biographical disruption prompts a person to rethink their biography and self-concept and how one relates to others fundamentally in the past, present, and future. On the other hand, not all diseases are unexpected because they run in the family or the long diagnostic odyssey might have prepared the person for a disease. Also, the age of disease onset can influence how drastically the diagnosis is experienced. Pound et al. (1998) examined elderly people with chronic illness and concluded that their many lived years have prepared them with skills which enable them to deal with crises and effectively adapt to new situations, such as chronic illness, and elderly people even accept that old age generally brings poor health. Therefore, people might anticipate a future with illness or become accustomed to a risk of a disease. Instead of disruption, an illness can be part of a continuum (Williams 2000). Despite receiving treatment and even a cure, many people can still linger in a state of liminality between health and illness. The experience of being sick can still define a person’s identity; for example, being cured of cancer is a long process with several check-ups and partial remissions. Trusson et al. (2016) examined how for former breast cancer patients, it is not possible to return to the old normal of prediagnosis. Although people were no longer officially categorized as ill, they had difficulties in describing themselves as healthy in the same way as before their cancer diagnosis. They argue that a new normal, as their research participants described it, “is a continual process of renegotiation of identities, daily lives and futures as time passes and lives evolve” (Trusson et al. 2016, 128). However, as Berghs emphasizes, a cure is often seen in popular culture “in terms of an end-point, rather than along a continuum of constant illness and possible or impossible recovery cycles, each with differing forms of cure during the life-course” (2022, 2). Therefore, evaluating and considering future treatments does not happen from a “here and now perspective” (Krogager Mathiasen et al. 2020) but involves considering past, present, and future and layered temporalities (Lewis et al. 2022; Krogager Mathiasen et al. 2020). In addition to time, the local medical system and sociocultural surroundings influence peoples’ desire for new cures. Kato (2018) showed that Japanese Duchenne muscular dystrophy patients’ aspirations for a cure are not self-evident but are influenced by the local history of discrimination against genetic disorders, the way care is organized, and the sociocultural surroundings. Therefore, Kato (2018, 86)

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argues that ideas about scientific advancements are not merely personal but are embedded in sociocultural meanings of the disease. This chapter is an examination of how a group of rare disease patients consider and evaluate their willingness and need for a cure based on gene editing and how their reasoning is based on layered temporalities, personal and family experiences, and sociocultural surroundings. CASE, MATERIAL, AND METHODOLOGICAL CONSIDERATIONS The research material comprises eleven semi-structured interviews of Finnish people having various types of rare diseases. The patients represented four rare diseases: a hereditary cerebrovascular disorder, a progressive metabolic storage disorder, an inherited retinal dystrophy and a primary immune deficiency disease—all with prevalence less than 1:10 000 in Finland. Some but not all of these diseases are part of the Finnish disease heritage (FDH), which is a particular set of thirty-six rare monogenic diseases that are more common in Finland than elsewhere. Conversely, some rare diseases which are rather prevalent in other Western countries are practically absent in Finland (Kääriäinen and Varilo 2019; Rajtar 2023). These particular rare diseases are overrepresented in Finland due to the population’s history, whose main characteristics are a small founder population and regional isolation, which have made the FDH and the whole population of Finland interesting research subjects (Tupasela 2016). In addition, the idea of specific Finnish rare diseases has become an integral part of Finnish genetic and population history (Tupasela 2022). Interestingly, the FDH is rather well known among the Finnish public because the term was popularized in the book Suomi-neidon geenit, by Reijo Norio (2000). The interview participants were recruited from a group of patients at Helsinki University Hospital. Currently, the diagnosis of rare diseases is concentrated in the five university hospitals in Finland. All five university hospitals have a Clinical Genetics unit, which mostly takes care of the diagnostics and coordination of care of rare diseases in the area, sometimes in collaboration with the special disciplines like ophthalmology or pediatric neurology. But care is the responsibility of university hospitals and various healthcare organizations at the regional level. The participants in this interview study were chosen from among patients who had already been approached to participate in a gene-editing study at the Clinical Genetics Department of Helsinki University Hospital. They had been asked to donate skin cells for research. The third author, Kirmo Wartiovaara, led this gene-editing project.

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Roosa Harmo conducted the interviews in 2020, either face to face, via telephone or via video conference, and they lasted forty-five to sixty minutes. The participants received an information sheet and provided informed consent form prior to the interview (in person or via mail if the interview was conducted remotely). The informed consent was also discussed at the beginning of the interview, and oral consent was recorded. The study received an ethical statement from the Helsinki University Hospital’s ethical evaluation board. The authors jointly developed the interview script, which they slightly revised after the first interviews. The interview themes included personal description of the disease and family history, process of diagnosis, current and past medication and experiences of care, understanding and expectations of gene editing, and willingness to potentially undergo gene editing. The interviewees received together with the consent form a short explanation of gene editing as a technique. During the interviews, if requested, Harmo explained gene editing in more detail and answered the interviewees’ questions. All interviews were conducted in Finnish and audio recorded, transcribed by Harmo and pseudonymized during the transcription. After transcription, Harmo and Snell read, coded and analyzed the transcripts. The coding was done independently and in joint coding and analysis sessions in which a common coding scheme was developed and reassessed during the process. To protect the interviewees’ anonymity, only the approximate age and gender are utilized in quotes and the specific disease is not mentioned. As stated, the research participants represented four rare diseases. Their ages ranged from just under twenty to around seventy years, and the sample included male and female participants, with the majority being female. The interviewees were in various stages and severities of their diseases. Some informants were more experienced patients, with years of various types of symptoms, and sometimes had other diseases, as well. They had encountered many types of medications and forms of care. Others had had been diagnosed relatively recently as symptoms had emerged or because of a family member had been suffering from the illness. These patients had few or no symptoms but were familiar with how the disease usually manifests and progresses. The interviewees’ diverse backgrounds, diseases, and life situations provided a particular research setting. In a way, the setting reflects well the nature of rare diseases as Morel and Cano (2017, 3) describe: Heterogeneity and variability are the two hallmarks of rare diseases. Even within defined conditions, health outcomes (i.e. symptoms and signs of the disease and its overall effect on patient function) can be very different across individuals and these can change as the condition progresses.

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Therefore, the research setting offers an insight into the manifold everyday lives of people with rare diseases. Due to the small number of patients from each disease group, it is not meaningful to contextualize the diseases separately, nor does the research enable a comparative study of people with different diseases, age groups, or disease stages. Instead, patients with various rare genetic disorders and life situations offer multiple viewpoints on how a potential new cure is envisioned to fit with the personal idea of past, present, and future life and disease. Therefore, the interviews do not provide a direct and clear answer to the question, are you willing to undergo genome editing? Instead, the method provides an understanding of how people orient themselves toward unfamiliar terrain and future choices (Snell et al. 2012). Semi-structured interviews allow participants to address aspects they deem important independently. Interviews are also suitable for discussing new technologies that might not be well known beforehand because the interviewees can ask the interviewer questions. One of the characteristics of the research setting was that the main topic, gene editing, is not an actual option for care and cure currently but needs to be discussed as a potential. In addition to a vision of treatment, the side effects and other risks, costs, and, for example, eligibility criteria are not known. Therefore, discussing a potential can, of course, produce different results than would be obtained if gene editing were an established practice and a current option. However, analysing the interviews through the idea of layered temporalities can reveal similar issues and reasoning that patients would also apply in the context of deciding on an actual therapy. EXPECTATIONS OF CURE AND LAYERED TEMPORALITIES Our analysis shows that expectations of care and cure are entangled with each person’s life situation and history, future expectations, the disease, and its stage and symptoms, and they reflected more general ideas about medicine, healthcare, and ethics. Therefore, people considered many aspects of the past, present, and future while thinking about gene editing’s costs and benefits personally and at large. In general, the rare disease patients interviewed regarded the possibilities of gene editing as positive news. However, gene editing seemed elusive to the informants, part of a distant and abstract future that was not always easy to imagine in concrete terms. But at the same time, many could consider gene editing a possible continuum of the various therapies already tried or in use. The analysis is divided into two sections, and it opens up how the interviewees reason and think about their lived realities and how layered temporalities

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are configured in their reasoning. The first section is an exploration of how a balance between continuum and change is discussed and how a possible new cure might disrupt familiar routines. The second section addresses the interviewees’ consideration of whether they would consider undergoing gene editing and how various risks and temporalities influence their reasoning. CONTINUUM AND CHANGE In general, all the interviewees considered research on gene editing important and possibly revolutionary. Some were enthusiastic whereas others expressed a more cautious attitude. I’m hoping that we would get forward with this gene manipulation—that we would get results, could slow down the disease or somehow medicate it and always better if it would be cured. (Female, thirty-plus)

It became quickly apparent that a new cure would bring about many changes in one’s life, but a cure was not easily imagined on a personal level. Most interviewees were hoping for better, cheaper, and easier care but did not expect new treatments, especially not a cure. One informant contemplated the request she had received to donate cells for the gene-editing study and how this was the first time she was approached about research on her illness. I have lived with this illness for 20 years, and I think this is the first time someone has approached me about research related to this disease . . . so I don’t see it being a big risk [laughing] that someone comes up with a better treatment. It is possible but not very likely. (Female, under thirty)

Ferrie and Wiseman (2016) describe how patients are often made to wait and how this can create an understanding of them being of low importance or low priority. Although this quote does not directly address the issue of waiting, it points to the accepted low expectations and low priority associated with curing a rare disease. A recurring theme in the interviews was that with time, the interviewees have become accustomed to the lack of new treatment options as well as their disease, its symptoms, and the often difficult therapies. They told how the disease is part of their everyday life, family dynamics, and identity. The person quoted above stated that she was used to the special diet she has to follow and that it was not difficult to follow because she had been diagnosed in childhood.

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Of course, if someone now as an adult would get this kind of a diet, it would be rather challenging to begin it, but I’m now so used to it, well, it goes well. (Female, under thirty)

Years of following a diet had equipped her with skills to cope. Becoming accustomed to illness and the routines associated with it takes time. In addition to personal experiences, familiarisation with the disease can occur by following the lives of family members. Another patient, who still had only minor symptoms but had lived with the disease through the diagnosis and symptoms of serval family members, described her relationship with the disease: I do feel that it [the disease] has been here during my life and is part of my identity. It has been easier to accept it because I have thought that it is part of me even though I have perhaps not dared to think about it in a personal level, but still. (Female, thirty-plus)

The last part of the quote refers to her absence of symptoms and how she has lived with the disease mostly though family members. Family relations play a big part in forming identity and everyday living with the disease. Therefore, not only personal experiences but also other peoples’ lifecycles construct the temporal landscape of reasoning. Having a heritable disease also means that people are connected to their children’s future and well-being in an acute and burdening way. A mother of two children describes her guilt: Mentally, this has been hard when you realise you have caused this illness for your children. . . . It was a pretty bad experience when the children were tested. . . . I was made guilty. Like, do you want to make your children ill for the rest of their lives? (Female, sixty-plus)

She felt guilty for possibly passing on the illness to her children and was made guilty for wanting to test them to determine whether they had the disease. She also recounted how she had gone through grief work several times, first with the onset of her diagnosis then with her children and then by grieving the possibility of her grandchildren having the illness. But as one becomes accustomed to the reality of having an illness and sharing the disease in the family, the illness can become part of the everyday family life. Another informant described how the treatment that she and her mother are receiving currently has become a shared routine. At first, we got the therapy at the hospital, and then after about a year, it was transferred to home care. Every two weeks, those nurses come and inject that substance, and my mum is also here. She lives there, a kilometre away, so we have combined it very well. (Female, forty-plus)

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Despite judging their treatments and current medications as rather burdensome, most were content with them. Current situations and therapies were better than previous ones or no treatment at all, and these therapies were incorporated and adjusted into daily or weekly routines. The route to this balance, depicted by many, had been lengthy. The interviewees described not only a long diagnostic odyssey but also a long journey in finding the right therapies, but even though the patient quoted above had managed to make the therapy as convenient as possible, she welcomed the idea of gene editing. It would be easy. It will be done for you once, and then I will be healthy. It would be like any medication or therapy. I would take it [gene editing] screaming happy rather than this pocking of veins. (Female, forty-plus)

CONTEMPLATING RISKS Some of the patients considered gene editing a therapy like any other except that it had the possibility to cure the disease. One person noted that that all medicines and therapies interfere with the body, so there is no difference. Getting rid of constant medication or weekly or monthly injections was tempting for many. Well if you could get rid of medication, it would be okay. But there have been these complications [in gene editing] that you cannot correct easily. But in principle, I would be interested. (Male fifty-plus)

Although all of the interviewees regarded gene editing as a welcomed tool for curing diseases, it was not evident that they would consider it an option for themselves. Gene editing was associated with several risks. One of the risks discussed was the danger of disrupting one’s ordered life. Because the people interviewed recounted how they had become accustomed to the disease and adjusted their lives with symptoms and therapies, a cure would not only bring health but would also disrupt their current everyday lives and their imagined futures. In the next quote, a person with relatively mild symptoms contemplates about the possibility of undergoing gene editing: If I had to make a decision today that I would go there tomorrow, it would feel pretty wild. What if it would change your life into worse? It is a big decision because I don’t know how the illness manifests in the future. (Female thirty-plus)

The quote demonstrates well that experiences with past treatments that have not always been good, current ordered life and future expectations are all

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entangled. A young lady who had been diagnosed in early childhood pondered her willingness to choose gene editing in the following way: I have a kind of a thought pattern that the earlier you start something, the more it can prevent. But on the other hand, now as [I am] already older, you might not dare to do it, even if it would be possible. You wouldn’t jump into a pretty new stuff or experiment. (Female, under twenty)

Despite her young age, she has been living with her illness for most of her life and had to consider her future with illness and impairment at a far younger age than most people do. The notions of crip time (Kafer 2013) and experiential anticipation (Stephan and Flaherty 2019) show that the experience of time is subjective and does not always follow the normative organization of time and life course people are expected to follow. The subjective feeling of duration and the experienced anticipation will not necessarily correspond to linear progression of time and events. Therefore, being young does not automatically mean that one is willing to take risks and strive for a cure. The risk of disrupting an ordered life and routines went hand in hand with medical risks. One of the dangers identified in the scientific literature on gene editing is the increased risk of developing cancer (Ormond et al. 2017; Davies 2019). To some, uncertainties in the technology, especially the risk of contracting another disease, were to be avoided. Well, it would be rather dull if there was this great technology and there was uncertainty associated with it so that something else would be ruined in you or that you might get a really dangerous disease, for example cancer. Yes, those are things that you wouldn’t want to take as risks. (Female, forty-plus)

Some people calculated that because their illness already comes with the increased risk of developing cancer, an extra risk might be too much. Others considered that it would be okay to undertake the risk at a point in which one’s quality of life has deteriorated and the future has little to offer. A person with still rather moderate symptoms explained, When this disease has proceeded into the phase where mobility is poor, well, it is not life anymore. I’d rather take the risk because we all know the end result anyway . . . for example the risk for cancer, but there are at least some treatments for cancer. (Male, forty-plus)

In the last part of the above quote, the interviewee contrasts his disease and cancer. For cancer, there are many available therapies, but his disease only has medication to lessen symptoms. Many interviewees discussed the point of undergoing gene editing. The perceptions of an appropriate time were

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contradictory. Some, like the person quoted above, considered the proper time to be when one has nothing to lose, when time is running out. Others believed that the right time would be an early stage of an illness, when the body would have not suffered much and gene editing could help the patient return to their old normal. Well, in principle, it would be worthwhile to take it [gene-editing therapy] as soon as the diagnosis comes because now it’s like that [a degeneration] could have been avoided. And on the other hand, the other changes could have remained minor or even non-existent. (Female, under thirty)

Many considered that there is no appropriate time for them to receive a cure because the technology is unattainable for them and could only help their children or future generations. Many were still willing to contribute to research on gene editing. One interviewee in her early thirties pondered her decision to participate in research that aims in the long run to develop gene therapy for patients. She stated, Well, I think that if this could help someone sometime that everything that I can help with, I want to participate there. (Female, thirty-plus)

Another considered even participating in research unrealistic, not only because of the fear of risks but also the way she sees medical research being conducted. I would have to think about it very carefully. I can’t say the answer directly, but I don’t know. Maybe that’s a bit of a theoretical question since it always seems like, on the gene therapy side, in those clinical trials, they always start with male patients of a certain age. In a way, women are not accepted, at least for the first and second phase trials. . . . That’s why I’ve never thought about it. I’ve been thinking that maybe it’s not relevant and not even that likely. (Female, sixty-plus)

Because the technology was considered personally unattainable, for some, the ethical reflections on a more general level were also difficult to discuss. The elderly patient quoted above did not want to think about whether gene editing is good, bad, or risky personally or more generally. She said that because of her age, she doesn’t even have to think about it: Well, I don’t know what to say about it. I understand the risks and also the good sides, but I do have my age, so I don’t want to ponder about it. Someone else can do it. (Female, sixty-plus)

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A couple of interviewees were sceptical about gene editing and stated that ethical problems might hinder its development. Although they still considered gene editing mainly positive, they did not want people or their genes to be “poked” or “fiddled with” too much. CONCLUSIONS This chapter set out to discuss how a group of rare disease patients in Finland contemplated the possibility of developing and receiving a cure for their illness through gene editing. The aim was to answer the call to hear and understand the people that new technologies and therapies potentially affect. This research provides insights into how rare disease patients imagine their possible futures, gene editing and cure, by focusing on different temporalities expressed and experienced by people. Alison Kafer (2013) has argued that we need a new way of thinking about and understanding time in a way that acknowledges different lived realities. Her research has focused on disabilities and she wants to dismantle the belief that we all desire the same future. Also others have pointed to the importance of conceptualizing time as subjective, experienced, embodied, and nonlinear (e.g., Plage and Kirby 2021; Lewis et al. 2020; Stephan and Flaherty 2019). Stemming from this thinking, the analytical focus was on acknowledging the various and layered temporalities that people experience as part of their illness and everyday life. The analysis showed that people do not reason and make decisions on “here-and-now” thinking but reflect on the past, present, and possible futures. Life events, such as diagnosis, therapies, failures, and family relations, are not past but ongoing temporalities that influence how people see their future. Similarly, future expectations shape current action, and the future is mobilized in the present (Brown 2003). Methodologically, the research provided a particular setting, which did not allow for comparisons between disease groups or patient backgrounds. Instead, it offered insights into how various people think about and evaluate future options regarding their care. Gene editing is still a nascent technology, and it has limited applications in medicine. Therefore, the interviewees could not make actual decisions or reflect on known side effects, costs, and benefits. However, the study setting reveals similar issues and reasoning that patients would also apply in the context of deciding about an actual therapy. For example, the research participants pondered the risks of gene editing not only from the viewpoint of medical risks but also as a risk to their ordered lives. The social science literature has provided much discussion about how people can experience the onset of an illness as a disruption (Bury 1982; Williams 2000). However, for chronic illness patients, a cure can also be a

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disruption. As Trusson et al. (2016) found in their research on cancer survivors, it is difficult to return to the prediagnosis normal. Instead of experiencing an easy and happy return, people need to renegotiate their identities, daily lives, and futures continuously as time passes and their lives evolve. The rare disease patients interviewed for this study seemed aware of this potential renegotiation and feared that gene editing could not only produce medical problems, such as cancer, but also change their lives in unwanted ways and disturb their ordered lives. Most interviewees did not have high expectations of new therapies, and especially not a new cure. On one hand, this lack of expectations was related to the recognition that rare diseases are not on the medical industry’s priority list. On the other, it reflected the past experiences of therapies and became entangled with their present day and being accustomed or even content with their lives as they are. The route to this sense of balance, which many described, had been lengthy, comprising not only a long diagnostic odyssey but also a long journey in finding the right therapies. Some of the interviewees did, however, express more anxiety about their current mental and physical condition and future in relation to their deteriorating health and the responsibility and guilt they felt for passing on the disease to their offspring. These people were more eager to consider participating in research on gene editing and trying out gene editing—if not for themselves then for their children and other people. Therefore, it is not only personal experiences of past, but also other peoples’ lifecycles that construct the temporal landscape of reasoning. In principle, somatic gene editing was regarded as a positive technology that could benefit future patients. However, choosing to undergo gene editing was not obvious. Therefore, instead of committing to the imperative for a cure, the desire for a cure among rare disease patients was not evident and conditioned by layered temporalities entangling the past, present, and future. REFERENCES Adams, Vincanne, Michelle Murphy, and Adele E. Clarke. 2009. “Anticipation: Technoscience, Life, Affect, Temporality.” Subjectivity 28: 246– 65. https:​//​doi​.org​/10​.1057​/sub​.2009​.18 Andorno, Roberto, Françoise Baylis, Marcy Darnovsky, Donna Dickenson, Hille Haker, Katie Hasson, Leah Lowthorp et al. 2020. “Geneva Statement on Heritable Human Genome Editing: The Need for Course Correction.” Trends in Biotechnology 38 (4): 351–54. Baylis, Françoise, and Lisa Ikemoto. 2017. “The Council of Europe and the Prohibition on Human Germline Genome Editing.” EMBO Reports 18 (12): 2084– 85. https:​//​doi​.org​/10​.15252​/embr​.201745343

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Ormond, Kelly E., Yvonne Bombard, Vence L Bonham, Lily Hoffman-Andrews, Heidi C Howard, Rosario Isasi, Kiran Musunuru, et al. 2019. “The Clinical Application of Gene Editing: Ethical and Social Issues.” Personalized Medicine 16 (4): 337–50. Parsons, Talcott. 1951. The Social System. London: Routledge. Paul-Ehrlich-Institute. “Gene Therapy Medicinal Products.” Accessed May 26, 2023. https:​//​www​.pei​.de​/EN​/medicinal​-products​/atmp​/gene​-therapy​-medicinal​-products​ /gene​-therapy​-node​.html Plage, Stefanie, and Emma Kirby. 2021. “Reconfiguring Time: Optimisation and Authenticity in Accounts of People Surviving with Advanced Cancer.” Health Sociology Review 31 (1): 96–111. https:​//​doi​.org​/10​.1080​/14461242​.2021​.1918016 Pound, Pandora, Patrick Gompertz, and Shah Ebrahim. 1998. “Illness in the Context of Older Age: The Case of Stroke.” Sociology of Health & Illness 20 (4): 489– 506. https:​//​doi​.org​/10​.1111​/1467–9566​.00112 Rajtar, Małgorzata. 2023. “‘Small’ Data, Isolated Populations, and New Categories of Rare Diseases in Finland and Poland.” Anthropology & Medicine 30 (1): 1–16. Segers, Seppe, and Heidi Mertes. 2019. “Does Human Genome Editing Reinforce or Violate Human Dignity?” Bioethics 34 (1): 33–40. https:​//​doi​.org​/10​.1111​/bioe​ .12607 Slesingerova, Eva. 2021. “Recombinant DNA and Genome-Editing Technologies: Embodied Utopias and Heterotopias.” Body & Society 27 (2): 32– 57. https:​//​doi​.org​/10​.1177​/1357034X21998449 Snell, Karoliina, Johannes Starkbaum, Georg Lauss, Andrea Vermeer, and Ilpo Helén. 2012. “From Protection of Privacy to Control of Data Streams: A Focus Group Study on Biobanks in the Information Society.” Public Health Genomics 15 (5): 293–302. https:​//​doi​.org​/10​.1159​/000336541 Stephan, Christopher, and Devin Flaherty. 2019. “Introduction. Experiencing Anticipation. Anthropological Perspectives.” The Cambridge Journal of Anthropology 37 (1): 1–16. https:​//​doi​.org​/10​.3167​/cja​.2019​.370102 Timmermans, Stefan, and Maria Buchbinder. 2010. “Patients-in-Waiting: Living between Sickness and Health in the Genomics Era.” Journal of Health and Social Behavior 51 (4): 408–23. https:​//​doi​.org​/10​.1177​/0022146510386794 Trusson, Diane, Alison Pilnick, and Srila Roy. 2016. “A New Normal?: Women’s Experiences of Biographical Disruption and Liminality Following Treatment for Early Stage Breast Cancer.” Social Science & Medicine 151: 121–29. https:​//​doi​ .org​/10​.1016​/j​.socscimed​.2016​.01​.011 Tupasela, Aaro. 2016. “Genetic Romanticism—Constructing the Corpus in Finnish Folklore and Rare Diseases.” Configurations 24 (2): 121–43. https:​//​doi​.org​/10​ .1353​/con​.2016​.0011 ———. 2022. Populations as Brands. Marketing National Resources for Global Data Markets. Cham: Palgrave MacMillan. Williams, Simon J. 2000. “Chronic Illness as Biographical Disruption or Biographical Disruption as Chronic Illness? Reflections on a Core Concept.” Sociology of Health & Illness 22 (1): 40–67. https:​//​doi​.org​/10​.1111​/1467–9566​.ep11339939.

Chapter 6

Health Emigration in Rare Disease A Case Study Małgorzata Skweres-Kuchta Translated by Katarzyna Byłów

Young medical students came to see a boy with a rare disease who was, once again, being hospitalized. They wished to interview his mother. They had an opportunity to learn about the “zebra” case. In conversation with the patient’s mother, they explained that during their lectures, their professors emphasized that should one hear the clatter of hooves outside the window, it would probably be horses running, not zebras. The metaphor, which has been known since 1940 and has been attributed to the American medical researcher Theodor Woodword (Rubinstein et al. 2020), was a way in which the teaching staff stressed that when diagnosing a patient, one should not immediately assume they may have one of atypical, rare conditions. Young doctors, with all their theoretical knowledge, are usually inclined to do this, which is often unnecessary, as the vast majority of the population tend to be affected with common diseases. The interview request happened at the time, when the boy’s mother, already familiar with the rare condition, wished to share her experience. Her purpose was mainly to make future doctors aware that focusing on “horses” could spell the “zebra’s” tragedy. She pointed out that when one hears hoofs pounding, “you can expect horses, but you cannot rule out zebras.” The phrase also happens to be a quote from one of Paula Hawkins’ thrillers—admittedly, the subject matter is different, but the “genre” might prove to be the same (Hawkins 2018). In a family where there is a case of a rare disease, especially one with a severe course and poor prognosis—the tragedy, frantic looking for solutions, and extreme emotions tend to accumulate just like in thrillers. 131

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In this chapter I shall focus my reflections on the managerial and economic aspects related to frustrated healthcare needs in rare disease cases, by using the example of ultrarare childhood dementia (CLN2 Batten disease). I wish to shift the frame of reference toward sustainable disease management, firmly grounded in the context of the tragic experience of families living with a rare disease. To some extent, all such families face the “zebra syndrome”—by which I refer to the multidimensional exclusion experienced by patients and their relatives. In particular, such exclusion involves unequal access to innovative orphan therapies, depending on which side of the specific national border the patient resides. Awareness and mobility that are available to society mean that families emigrate to have access to particular therapies. Health emigration in case of rare disease patients presents an additional burden to the family and a challenge for both the country of origin and the host country, from both operational and strategical perspective. Relevant literature is still scarce, hence, as a follow-up of our collaborative reflection, I wish to present the first study conducted among families who have been forced to migrate to gain access to treatments for childhood dementia. Without a new philosophy and culture in the management of the patient support system, this anomalous phenomenon is bound to become more prevalent as new therapeutic options emerge. The solution to the problem of health emigration could be, as a follow-up of international clinical trials and central registration of drugs, ensuring central access to treatment of rare diseases within the EU. Internationally, priority has been given to the need to reduce inequalities in access to treatment for patients with rare diseases. Rare does not mean insignificant, and the patient’s rights should be the same regardless of the nature of their condition. Lack of progress in terms of availability of existing treatments has been raised by the World Health Organization (WHO), the United Nations (UN), the European Union (EU), and Eurordis-Rare Diseases Europe based in Paris, France—a unique nonprofit alliance of over 1,000 rare disease patient organizations from seventy-four countries from all over the world.1 It is especially significant, as the EU has already introduced measures to ensure equal access to healthcare as part of the residents’ right to transnational healthcare and of healthcare services coordination.2 In Poland, the rights of rare disease patients in this respect have so far been limited.3 It is also important to note as a result of health emigration, the particular neglected diseases become a “blind spot,” by which I mean the lack of steps that could benefit future patients, in terms of diagnostics, rehabilitation, treatment, education and awareness, both on the operational and strategical level. This is because the motivation to change and develop such solutions for patients living with the particular disease tend to “emigrate” along with the patients. A strong patient community, which could act as a motor of change and counteract the “zebra” syndrome, thus becomes active in another country.

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THE ZEBRA SYNDROME Rare disease has not yet been defined globally. Definitions vary from country to country in terms of the prevalence of the disease, but everywhere they emphasize that the number of affected people is small (Nguengang Wakap et al. 2020). In line with EU legislation, a rare disease is defined as one affecting no more than one person per 2,000 inhabitants. However, there are thousands of disease types, ranging from more than 6,000 quantified according to the unique ORPHA code in the Orphanet database (Orphanet 2022) to more than 10,000 when information from other databases is included (Haendel et al. 2020). Their origin, course and possible range of support measures are extremely diverse. Most of these diseases are chronic, debilitating conditions, most are genetic, with symptoms manifesting in early childhood. A single disease may affect a small number of people, but rare diseases in general affect quite a large population. It has been estimated that there are 300 million living with such diseases worldwide (30 million in Europe, 3 million in Poland). Following T. Woodword, zebra has become the symbol of rare diseases. And “when you are a zebra in a herd of horses,” you are bound to face a series of negative, interrelated consequences that may lead to multidimensional exclusion, which you experience only because your condition happens to be rare. I have dubbed this set of consequences (attributes) the zebra syndrome, characterized by: • • • • • • • • • •

limited knowledge of the medical community about the disease; few, often no specialists; diagnostic “odyssey,” including issues with genetic testing; inadequate scope of screening tests; the patient or their carer taking on the role of care coordinator; scarcity of available drugs; “flawed/deficient” evidence-based medicine (EBM); problems with reimbursement of orphan medicinal products (OMPs); unequal access to treatment, often resulting in health emigration; health inequalities and disparities in the development of systemic solutions.

I will discuss individual attributes of the zebra syndrome one by one, but I also wish to indicate how interdependent they are and how strong is the need to ensure comprehensive management of the whole system. The multiplicity of types, diversity, and dispersion of rare diseases makes meeting the patients’ needs complex and difficult. One of the issues is the limited knowledge of medical practitioners about specific conditions. As demonstrated in relevant

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literature, patients may not feel disadvantaged by the fact of being affected by a rare disease, but they find it hard to accept the way in which the healthcare system responds to their problems (Huyard 2009). Professionals who can effectively support the patient tend to be few and far between, especially at the first, crucial stage, when the patient is diagnosed. It is a fundamental issue, regardless of whether or not there is any therapeutic option for the disease in question—although different authors seem to hold diverging views in this respect (Jutel 2009; Jutel and Nettleton 2011). The lack of diagnosis forces intuitive, haphazard interventions, which often prove detrimental to the patient (Black et al. 2015). Knowing what illness and outcomes the patient is facing allows both the patient and their family to come to terms with the situation, without nurturing unnecessarily false hopes. The situation in which the affected people are constantly searching for answers, which may sometimes take years and has aptly been called the “diagnostic odyssey,” may be devastating in terms of health, funds, and logistics. It is particularly tragic when the correct diagnosis comes too late for patients who could have otherwise benefitted from already existing medical treatment. Delayed diagnosis leads to delays in interventions and may thus reduce the health benefits despite treatment, due to the irreversible changes the disease has by that time caused in the body, which may also exclude the patient altogether from receiving therapy due to administratively set criteria for inclusion in the treatment program (see below). From the health system point of view, the diagnostic odyssey involves time wasted by specialists and wasted public money as well as missed opportunities to assist other patients. Under such circumstances, a systemically effective solution for many patients with first symptoms of the disease may be broad-spectrum whole exome sequencing (WES), which in 80 percent cases may detect the cause of the disease (Wu et al. 2020). Currently in Poland, such tests are reimbursed to a very limited extent and available only to children, if a specialist referral for the test specifies four different indications as justification for multimorbidity of undetermined origin.4 As stressed by the authors of the Polish plan for rare diseases, the systemic costs of a single patient’s diagnostic odyssey often exceed the cost of large-scale genomic screening.5 This is because such a test eliminates long-term waterfall diagnostics, that is, step-by-step procedure using classic genetic testing and many other diagnostic methods, usually combined with recurrent hospitalisation periods. The time needed to reach diagnosis is thus reduced from several—and in some cases, dozens of—years to an average of ten months. Experts also emphasise the need to focus relevant competencies within specialized centres for rare diseases, in line with global efforts to combat the diagnostic odyssey among children with rare diseases, which also include pilot educational and diagnostic programs based on a redefined (reimagined) genetic counselling

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system.6 Even though genetic screening offers many opportunities to help patients, it also involves a number of debatable ethical implications present on several levels: the screening process, how screening results may affect patients (and their relatives) and contextual challenges for systemic solutions (Kruse et al. 2022). In terms of diagnosing rare diseases, especially those that can be treated, the medical and patient communities advocate the inclusion of such diseases in newborn screening programs. This is especially true for diseases that may not manifest until the patient develops specific symptoms indicative of significant harm to their body. Receiving treatment in the presymptomatic phase offers such patients a chance to remain healthier and more independent, or even live a healthy life. Currently, screening tests carried out in Poland include thirty diseases. Annually, it enables detection of congenital defects in approximately 450 newborns. The needs are more substantial, although Poland is at the forefront of European countries in terms of the number of diseases included in such screening procedures.7 Polish examples of strategies for the diagnostic and treatment approach for phenylketonuria are reason for optimism (see Chowaniec, this volume), for spinal muscular atrophy (SMA),8 or for cystic fibrosis, with the problem of false screening results too (Zybert et al. 2016; White et al. 2021). The situation has been dynamic due to developing diagnostic technologies, identification of new rare diseases and acceleration in new drug discovery. Thus, the range of screening tests is likely to expand, which will generate further challenges (Raz and Timmermans 2018). As a result of limited knowledge of the disease and scarcity of experts is that the patient’s caregiver (less often the patients themselves) takes on the role of care coordinator, or perhaps an expert (see Chowaniec, this volume), whose experiences and “experiments” often prove invaluable to the medical community. Parents often make accurate tentative diagnosis based on information available online (Bouwman et al. 2010). In rare diseases, the partnership between the doctor-patient-caregiver is particularly visible and advisable (see Rogalski, this volume). Just like in the education system, it is the parents who suggest solutions that could make the system more attuned to the needs of a child living with a particular disease (Doroszuk and Grybek 2022). Patients and their caregivers are a treasure trove in terms of knowledge, so the growing role of formal patient associations should be viewed as an advantage (Rabeharisoaet al. 2014). These form an increasingly viable— though in my view, in Poland still under-recognized (Władysiuk et al. 2021; the Polish Ombudsman 2023)—advisory voice to state administration bodies with regard to the development and implementation of legally binding solutions for patients.

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In case of rare diseases, effective treatment is only possible in a minority of cases, in approximately 6 percent of the 8,000 types of known conditions. Small market results in the scarcity of available drugs (McGuire 2020). The limited activity of the pharmaceutical industry in this specific area is due to the low cost-effectiveness of their investment in innovative drug technologies (Richter et al. 2018). From the cost-benefit analysis point of view, such investments are costly, their long-term impact is uncertain, and customers are few, thus in commercial terms, the market is unattractive. The problem is global, and with a limited number of potential customers, revenue has to be generated through the high level of the selling price. Payers wind it difficult to accept, as they have limited budgets and the health-related needs of citizens are ever-increasing (Kwon and Godman 2023). Also, the profit margin expected by investors from the sale of drugs for rare diseases remains highly debatable in circumstances of such significant patient exclusion (Berdud, Drummond, and Towse 2020). The World Health Organization has called for transparency in pricing of such therapies (Vogler et al. 2018), while Eurordis has set itself a strategic goal of multiplying the number of available drugs by three to five times by also keeping their price three to five times lower.9 As a systemic solution, investors are being encouraged by investment incentives,10 including granting the orphan drug status, acceleration of drug-approval procedures, preferential treatment in terms of drug registration fees, scientific support, preauthorization, central registration, and periods of marketing exclusivity for their products.11 Rare diseases do not fully fit into the mainstream evidence-based medicine (EBM) (Guyatt 1992), as data on interventions most often do not originate from randomized trials, considered to be the most reliable for health technology assessment (HTA). The discussion about the validity of EBM is a broader topic (Richards et al. 2021; Soll, Ovelman, and McGuire 2020), but is especially valid in the context of rare diseases, which require an individualized approach. Due to the small number of patients, clinical trials are based on small groups, sometimes over many years, with patients coming from different countries. The problem of forming a clinical group and the often dramatic and rapid progression of the disease mean that placebo trials are not performed, considering them unethical in these circumstances. The prolonged trial means the prospects of providing real solutions for patients become more remote. Furthermore, in cases for which there is no cure, participation in a clinical trial is the only opportunity to receive potential treatment, and patients stress that they do not wish to be deprived of it by being assigned to a control group (Gaasterland et al. 2019). Treatment efficacy is then assessed against historical data derived from the natural course of the disease, while the requirement for further monitoring of long-term treatment effects is also being stressed (Abrahamyan et al. 2016). Such drawbacks in terms of

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research have been raised in HTA reports, and are increasingly recognized as acceptable under certain conditions, precisely because of the specific nature of rare diseases (Pieklak et al. 2020). Nevertheless, experts have been highlighting the urgent need to implement alternative assessment models for orphan technologies (Stafinski et al. 2022). High costs combined with insufficient knowledge of the long-term impact of therapies are a key barrier to reimbursement for drugs used in rare diseases. The problem presents a complexity on many levels. Experts emphasise the need for different assessment rules for rare disease drug technologies, the need for case studies to distinguish the first therapeutic option from a comparison of interventions or, finally, the necessity to establish a separate budget for orphan drugs. Problems with reimbursement of orphan drugs affect not only selected diseases, but also selected patients within group living with the disease. Drug programs often introduce restrictive criteria for patient participation, which patients sometimes find unethical (see below). Without a change in thinking about this area, the “therapeutic or pharmaceutical orphans” (Shirkey 1968) will continue to simply survive in a zone subject to exclusion. CHILDHOOD DEMENTIA IS NOT AN OXYMORON My choice of disease for this case study is not accidental and is an undisputed example of the zebra syndrome. Batten syndrome, or neuronal ceroid lipofuscinosis (CLN), is a metabolic disease, the most common of the neurodegenerative diseases that affect children (Weimer et al. 2002). There are more than a dozen types of Batten syndrome, of which type 2 is the most common, though still affecting fewer than one child per 100,000 live births in most of the populations studied (Specchio et al. 2020). The average prevalence of the disease is 0.75 per million population, with an incidence rate of 0.5 per 100,000 live births (Schulz et al. 2020). The incidence rate data varies according to the country where such studies were carried out: 0.15 in Portugal, 0.28 in Italy, 0.5 in the Netherlands, 0.62 in the Czech Republic, as high as 9 in Newfoundland, which has leading numbers of patients of all types of Batten syndrome (Sleat et al. 2016). In West Germany, according to the data I managed to find, the rate is 0.46 (Claussen et al. 1992). Data on the number of CLN2 patients in Poland are lacking in the relevant literature. Experience of one of the Polish patient organizations,12 suggests that the current number of children who have been diagnosed with this disease in Poland amounts to forty to fifty (thirty-two children who have moved to Germany with their families and at least eight children who are still in Poland). On average, each year three to

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six new cases are diagnosed in Poland. These figures in absolute terms are similar to those in the UK, where the Batten Disease Family Association (BDFA) has estimated the number of children with CLN2 at thirty to fifty patients, with five to six children diagnosed there each year, in the country having almost twice the population of Poland. The incidence rate there is 0.78 per 100 000 live births (Schulz et al. 2020). It can only be estimated that the incidence rate for Poland is between 0.8 and 1.8, depending on the year. Batten syndrome type 2 is therefore an ultra-rare disease, affecting no more than 1 person per 50,000 country inhabitants (Smith, Bergman, and Hagey 2022). Comprehensive data on the prevalence and incidence of CLN2 are lacking. According to the Orphanet database prevalence for Batten syndrome is 1–9/100000, while data for CLN2 are lacking. UK is the only country having a registry of CLN patients.13 CLN2 manifests as the child reaches the age of two to four by a severe epileptic seizure. The disease is usually diagnosed one to 1.5 years later, when the symptoms have already become very specific (grey matter atrophy in the brain on MRI scans, problems with gross motor skills, fear while going downstairs, deteriorating vision due to damage to the optic nerve). Characteristically, children diagnosed with CLN2 usually have not had time to learn to speak fluently. The first signs visible in the child’s behavior are sometimes mistaken by specialists to be indicative of autism: children are very energetic, as if they wish to “experience the world all at once.” As the time passes, they forget words they have already learned. Around the age of five, they stop walking; about six months later they lose their sight, are unable to eat and eventually breathe on their own; they suffer from drug-resistant epilepsy. In the natural course of the disease, the prognosed life expectancy is eight to twelve years—this is the cruel message the doctor needs to deliver to the parents (Nickel and Schulz 2022). Because of its course, which involves progressive loss of previously acquired skills and basic life functions, the disease is commonly referred to as childhood dementia, the term which fully captures its dramatic nature. Childhood dementia is a genetic condition, inherited in an autosomal recessive pattern (Gardner et al. 2019). Parents who are carriers of the disease (have a mutation that affects TPP1 gene), although they do not develop the disorder themselves, must face the risk of transmitting the genetic error to their offspring. If they pass it from both sides (the mutation appears in both alleles of the gene), the child will be affected with the disease. Statistically speaking, there is 25 percent risk of this happening. The probability of not passing on the carrier genes from either parent is as high, in which case the child is healthy. The child may also be a carrier of the disease, in 25 percent of cases from the mother’s or in 25 percent from the father’s side, and, like them, not develop the disease (Järvelä et al. 1992). This does not mean that,

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on average, for every four children in a family, only one will be ill. The probability of inheriting the disease have to be considered for each individual child. Unfortunately, in families with many children, dementia often affects more than one child (see below). In 2017, the first drug for CLN2 patients was introduced on the European and the US markets. The first clinical trial was conducted at four clinical centres in the United States, UK, Italy, and Germany (twelve patients out of twenty-four participating in the trial) among children aged at least three who were still able to walk and talk. The results indicated that the drug significantly inhibits the disease progression. The researchers also recommend that therapy should be started as soon as possible, before the disease has time to wreak havoc on the body (Schulz et al. 2018). The cause of the disease is deficiency of the TPP1 enzyme, responsible for clearing cells of protein deposits. Their accumulation leads to cell damage and death, most rapidly affecting the nervous system. Replacement enzyme therapy (cerliponase alfa) is administered directly into the brain ventricles via a Rickham reservoir surgically implanted into the brain. Infusion requires sterile conditions, takes nearly four and a half hours, and is carried out every fourteen days.14 In Poland, patients are usually diagnosed based on clinical symptoms, that is, at a stage of the significant advancement of the disease. The only therapy available to patients is not reimbursed nationally. The Minister of Health’s decision not to grant reimbursement was dictated by the economic commission rejection of the drug price, even though the national Agency for Health Technology Assessment and Tariff System had previously issued its positive recommendation.15 As a result, most families emigrate shortly after receiving the diagnosis, usually to Germany. In Europe, treatment is also reimbursed in Romania, Croatia, Serbia, Italy, France, the Netherlands, and the UK. HEALTH EMIGRATION—CLN2 CASE STUDY The fact that a therapy is possible does not mean that it is available to all patients. Despite central registration procedure at the European level, it is up to individual countries to decide on the level of public funding of drugs and procedures that enable reimbursement of therapies are initiated at the request of drug manufacturers. Such requests are first made in countries where reimbursement is most likely to be obtained and then the prices negotiated there become a benchmark for other countries (e.g., Germany) (Czech et al. 2020; Mills et al. 2023). Individual countries process reimbursement applications for orphan drugs at different rates (Stawowczyk et al. 2019). They often do not reimburse them at all or set different criteria for eligible patients. On the one hand, this amounts to a discrimination against patients and, on the

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other hand, a limitation of the possibility to expand knowledge about the effectiveness of treatment in different health circumstances (Epstein 2008). It is yet another complex problem that requires cross-border systemic solutions. Indeed, inequality in access to treatment as defined by national borders gives rise to numerous adverse effects with far-reaching consequences. One of these is health emigration, which seems to have received little attention in systemic discussions, even though it is a very costly yet unnecessary side effect of having an uncommon illness. Together with my team, we sought to identify and structure the knowledge on health emigration. We confirmed that this problem has not yet been sufficiently addressed in the relevant literature. To explore the topic further, we defined the term “health emigration” as a trip to another country to live permanently or for a temporary stay caused by the desire to obtain more effective healthcare not available in the country of origin. We also emphasized that health emigration, in this case emigration in order to gain access to a life-saving and/or life-prolonging drug, has the characteristics of forced emigration (Skweres-Kuchta et al. 2023). Although families do have a choice, by remaining in the country they do not have the chance to receive therapy for their child. Waiting for potential reimbursement is so time-consuming that it may perhaps serve children who will be diagnosed in the future, but not those who need help right now. It can be considered that emigration motivated by access to a specific drug is one type of health emigration, and if it involves long-term, lifelong therapy, it means that there is no prospect of returning to the country of origin. In this chapter, I present the next step in our analyses, namely the first comprehensive results of the study I conducted among families who have been forced to emigrate to gain access to CLN2 treatment provided in Germany. I also share my own experiences as a member of one of dozens of affected

Figure 6.1.  Intentional sampling. Source: Own work, including data sourced from Eurordis and EMA.

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families. The sample was selected intentionally (figure 6.1). CLN2 affects children, which is the case for nearly half of rare diseases. About 30 percent of rare disease patients die before they reach the age of five, and 40–45 percent do not live long enough to celebrate their fifteenth birthday.16 Data shows that up to 80 percent of rare diseases are genetic disorders, which is also the case for CLN2. Since my analysis relates to emigration, it could only include a case, for which treatment is possible, but only in selected countries, and is not reimbursed in Poland. The drug used in CLN2 therapy has been granted an orphan drug status—it is an innovative drug, covered by the privilege of marketing exclusivity.17 Since 2000, the European Commission has issued more than 2,552 orphan drug designations for tested substances, of which 207 have so far been approved as medicinal products, including 79 between 2017 and 2021.18 They are thus orphan drugs. All these conditions have also been met for Batten disease type 2. The background of the disease—rapidly progressing and debilitating to the young body—is important as it enables a better understanding of the decisions and assessments made by the families. Their consent to participate in the study should also be appreciated, as the topic relates to an extremely difficult personal experience. The first round of the study took place in 2019 and included families originating from Poland, with one family choosing not to participate in the study (n = 14). Subsequent rounds took place between 2020 and 2022 and the study was extended to include families coming from other European countries (n = 4) and new families from Poland (n = 6). In the study, we used a survey questionnaire and an interview with the parent, in which we elaborated on the themes raised in the survey. A total of thirty-one families (twenty-six from Poland) were invited to participate in the study. Twenty-four families agreed to participate, with twenty families from Poland and the others from Romania, Croatia, and Bosnia and Herzegovina. In Romania and Croatia, relevant treatment is currently available; however, only one family decided to return to their home country and participated in the study before reimbursement was granted there. The sample size (n = 24) reflects the rare occurrence of the disease. Families of Polish origin are the most numerous group of patients in Germany. The vast majority of patients are treated at the clinical center in Hamburg, which played a key role in the clinical trials of the drug that is currently available. Some of the current patients participated in the clinical trial. A total of forty-five children were raised in twenty-four families, including fourteen healthy children, thirty-one sick children, and twenty-nine children receiving therapy, which means that some families were securing treatment to more than one child, at the time of the study two children were not receiving therapy. The move had therefore affected more people, not only the patient and their carer.

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The aim of the study was to demonstrate the consequences of “health emigration” in relation to the socioeconomic situation of the emigrating family raising a child with a rare disease and the socioeconomic system in the country of origin. The distribution of emigration period in the study population was relatively even—at the time of the study, nearly 21 percent of the families had lived in Germany for less than a year; an identical group consisted of families living there between one and two years, two and three years, three and five years; and slightly fewer families (17 percent) had left their country of origin more than five years previously. Only one family declared to have moved regardless of their child’s illness, while 96 percent of respondents stated they would not have emigrated if they could treat their child in their home country. I present the results of a pilot study, as it related to only one rare disease. The conclusions thus cannot be generalized, but the results provide an additional perspective on the problem of health inequalities: the socioeconomic costs borne by the emigrating family, the losses incurred by the country of origin, and the challenges faced by the host country. Until now, emigration and health have been discussed in quite different contexts, mainly focusing on the problem of migration of trained health professionals or the impact of the health status of numerous groups of economic migrants or refugees. Migration due to unequal access to drugs in rare diseases result in “blind spots” that affect the provision of services to patients in the countries from which they emigrate (see below). EMIGRATION IMPACT—RESULTS OF A STUDY CONDUCTED AMONG FAMILIES Scope of the Study The study addressed several themes relevant to systemic management. Families shared their experiences of securing their child’s diagnosis. Their views were used in a comparative analysis of the standards of support offered to children with disabilities in Germany in relation to those available in the country of origin, in most cases Poland. Conditions related to health insurance in both countries are similar, though differences are clearly visible in terms of benefits—an issue worth exploring further in future research. An important part of our analyses were issues related to emigration of professionals, education, and professional status as well as the changes induced by emigration in this respect. The study also focused on the impact of emigration on the healthy siblings of the person living with the illness. The families were asked to assess the first year of their emigration in terms of: housing conditions,

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quality of life, social support, economic condition, and psychological condition. Based on these experiences, they declared whether they would return to their home country and what determined their decision. Below, I present detailed results of our research based on relevant themes. Diagnosis In rare diseases, diagnosis is usually problematic, and it often comes too late. On average, children with the traditional form of CLN2 have been diagnosed at forty-nine months of age (thirteen months after the onset of the initial symptoms). Children with the late-infantile form of the disease, which progresses more slowly and is less specific, have been diagnosed at 141 months of age (on average, sixty-nine months after the onset of initial symptoms). Forty-one percent of children have been diagnosed before their fourth birthday, 55 percent of patients received the diagnosis between four and five years of age, and 5 percent of children after their fifth birthday. Among Polish families, these figures are even less optimistic, with 39 percent diagnosed before four years of age, 56 percent between four and five years of age, and 6 percent even later. Parents reported problems related to diagnostic testing: “We had to personally deliver the sample to the laboratory within 5 hours of the material being collected, then it turned out that the test was unsuccessful, probably due to some mishap during transport, which I find hard to believe, since we carried the sample as if it were a fragile egg.” There were also incidents of misdiagnosis, which delayed the provision of treatment to the child. Exceptionally early diagnoses were the result of parents’ determination and performance of privately funded WES-type genetic testing or were a diagnostic side effect of tests performed as part of research programs focusing on epilepsy. There were also cases where doctors proved vigilant, which mostly happened in specialist hospitals, although in one case involved a GP. One mother, commenting on their striving for a diagnosis, said: “Something is wrong, and you feel it could be serious, but every time you hope the doctor will say: that is not it.” Childhood dementia, despite the fact that it belongs to the small number of rare diseases for which there is a real therapy option, is still diagnosed quite late, which, in this particular case, has a significant impact on the child’s health and development prospects. In Germany, newborn screening for CLN2 is now developed for implementation (Gramer and Hoffmann 2022). However, in Poland, things seem to have stalled. Despite the relatively high number of cases diagnosed per year, the enzyme replacement therapy for dementia is not part of public reimbursement scheme. Therefore, in line with the rules of newborn screening programs implementation, there exists no basis for including this disease in screening procedures (Wilson and Jungner 1968). What is interesting, thirty diseases are currently part of the screening

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programme in Poland, and only seventeen in Germany.19 All countries follow their own policies in this regard. The need to accelerate diagnostic processes for lysosomal diseases with treatment options available (which include CLN2) has been advocated by the scientific community (Wasserstein et al. 2021), also in Poland (Mazurkiewicz-Bełdzińska et al. 2021). Eurordis, as a European advocacy body focusing on the rights of patients with rare diseases, has emphasized that a harmonized approach to newborn screening for rare diseases with existing treatment options by all member states is particularly important to improve the lives of children born with a rare disease and their families.20 SUPPORT STANDARD FOR CHILDREN WITH DISABILITIES Without enzyme replacement therapy, childhood dementia rapidly leads to full disability. The therapy slows down the progress of the disease significantly, but does not stop it, especially when it comes to sight impairment (Dulz et al. 2022). Its effects vary both between children and within the functions of a given organism; they are also dependent on the stage of disease progression at the start of therapy (Estublier et al. 2021; Lewis et al. 2020). Our study included families of children who have developed visible symptoms of the disease and varying degree of disability. Hence, there were also grounds to explore the respondents’ views on the German support system for

Figure 6.2.  Support system comparison. Source: Own work.

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families of children with disabilities as compared to the solutions that were available to them in the home country (figure 6.2.). The respondents’ assessment of access to innovative products including access to the latest drugs for various conditions in Germany was overwhelmingly positive (expressed by 100 percent of respondents, of which 88 percent considered them much better and 12 percent considered them better), and the same was true in terms of provision of such drugs free of charge (96 percent of respondents), availability of specialists (91 percent of respondents), and hygiene products (87 percent of respondents). These factors tend to be particularly important for carers of a chronically ill person living with an illness that is not common. Three-quarters of respondents considered German healthcare be far better or better (access to primary and specialist healthcare services, the quality of hospital-provided care, the range of medicines and therapeutic services such as transport provided free of charge), while 21 percent of respondents consider it comparable to the one provided in their home country. The majority of families in the current system considers bureaucracy to be much worse or worse (63 percent of respondents) and has the same assessment of the quality of rehabilitation services (59 percent of respondents), although most respondents considered access to rehabilitation to be much better (50 percent) or slightly better (17 percent), while 17 percent consider it comparable and 13 percent consider it much worse. Parents have also been positively surprised by the scale of financial and in-kind support, 75 percent rating it better (including 71 percent much better) in comparison with that available in their country of origin. Financial support refers to the amount paid in the form of benefits for non-working carers of persons with disabilities, financial benefits for blind patients, provision or reimbursement of transport costs to medical facilities, the possibility to reimburse costs of short-term care provision for a person with disability by a person other that a close family member, as well as free of charge provision of medicines for children. In-kind support refers to equipping children with necessary rehabilitation and functional equipment and hygiene products without the need to apply for subsidies as is most often the case in Poland. Most of these benefits are provided by the health insurance companies upon application by the child’s guardian. There are also free counselling facilities providing information on support options, and counsellors visit families at home if necessary. Twenty-five percent of parents reported not to have an opinion on this issue, and they mostly represented families who have not stayed in Germany long enough to explore and benefit from all the possibilities. This was also the case of the systemic offer of labour market activation for parents—21 percent of the families have no capacity to evaluate it yet, while others have somewhat divergent views: 29 percent regard it as much

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better, 25 percent as better, 21 percent as comparable, and 4 percent as definitely worse than in their home country. In Germany, the implementation of compulsory schooling is considered very important for the child’s social development. Home schooling, which has been used by the responded families back in Poland, is not an option in Germany. The transfer of the burden of care to the parent in many different areas has been a relatively natural phenomenon for Polish families. In Germany, as a rule, the state tries to relieve the parent of some of the responsibilities imposed on him or her in connection with the child’s illness. For respondent families this represents a novelty, a different approach with which they need to familiarize themselves in order to be able to let go of the constant feeling of being obliged to exercise full and uninterrupted control over everything that happens with their child. This is probably the reason for the slightly more varied evaluations of the school system—46 percent of the families consider it to be better (38 percent see it as far better), 17 percent consider the two systems comparable, and 12 percent of parents are not satisfied with the schooling arrangements. Some families did not express any opinion in this matter as their children had not yet reached compulsory school age or because compulsory schooling had been delayed for their child, an option available in the German system in line with the rules applicable in each state. Awareness and social acceptance of disability are other factors that families found to be more favorable in the German society compared to their experiences in their home country. Seventy-one percent of the respondents stated that acceptance for people with special needs is greater in Germany, and 25 percent considered it to be similar to the level of acceptance in their home country. This is probably due to the public awareness of the needs of people with disabilities and the society’s role and responsibility in this regard. The respondents indicated that in this area the situation in Germany was better (67 percent considered such awareness to be greater, including 42 percent who considered it to be far greater), 13 percent deemed the awareness levels comparable in both countries, while 21 percent have not yet formed an opinion on the matter. Under the German healthcare system, families could also benefit from psychological support, for example, during drug infusion sessions in hospitals. One-third of the respondents were not able to comment on the quality of such support, perhaps because they had not yet had an opportunity to use it. Those who have had such an opportunity rated it as far better (29 percent), better (13 percent), or comparable (21 percent) to the one available within their home system, while 4 percent of respondents considered it to be of a lower quality.

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LOSSES IN TERMS OF HUMAN CAPITAL The majority of parents who have decided to emigrate were in their thirties and forties, while less than 40 percent were in their forties and fifties. Both groups had already become professionals and were valuable members in their workplaces. Forty-two percent of respondents had their own business in their home country. These are people with university degrees (67 percent of mothers and 63 percent of fathers), often having technical knowledge (21 percent of mothers and 43 percent of fathers), or with vocational education, which is currently in short supply in Poland (13 percent of mothers and 13 percent of fathers). Rare diseases predominantly result in a patient’s disability, hence the burden of care is usually borne by the parent and/or guardian (see Frydrych, this volume). Studies focusing on this group of patients in Poland have found that 67 percent of carers, mainly mothers, are forced to give up work. Extra needs combined with limited opportunities for professional activity resulted in family impoverishment in up to 80 percent of cases (Libura et al. 2016). This problem has also affected the group of families participating in this study. Some of them, mainly women, had not been professionally active even before they left their home country (21 percent). Following their move to another country, up to 46 percent of mothers and 13 percent of fathers gave up working. Thirteen percent of the mothers and 38 percent of the fathers started a new job below their qualifications, and only few did not have to change employer or found a job in line with their qualifications (13 percent in each category). Some respondents chose not to provide answer to this question. For half of the families who had previously run their own business, moving to another country involved discontinuing their economic activities (these were sole traders). Ten percent of businesses are still operating, remotely. Forty percent of the businesses, although they have not been discontinued, generated numerous additional burdens: My husband still runs a business in Poland and helps me with the children—he travels here every second week for hospitalisation periods. He is in a hurry all the time with endless telephone calls. While in Poland, he works twice as much as his colleagues and before leaving for Hamburg he has to arrange everything so that his employees have something to do over the next week, while he is away. Such a life has meant constant stress and one big unknown. You can’t relax, you cannot stop thinking. My mother helps us a lot in this whole situation. She has been flying to Hamburg when necessary, helping me with the girls, going with me to the hospital—when my husband cannot do it because of the company and some important deadlines. If it wasn’t for my husband’s owning a business, we wouldn’t be able to arrange all this. Working for someone else

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would mean, it would not have been possible to reconcile work with both our daughters’ hospital appointments.

No one in the study group decided to close down the company that would involve laying off employees or to transfer the business to the current country of residence. All data are reflected in figure 6.3. HEALTHY SIBLINGS In families affected by a child’s disability, life has to be reorganized and reevaluated. The parents’ attention is focused on the sick family member and on the requirement to meet the enormous needs that arise along with the illness. The burden on the parents takes its toll on their physical and mental states. Their lives remain meaningful, as they themselves emphasize, “also due to our second healthy child.” They point out, however, that the healthy siblings are also marked by the family member’s disability. Such children are being brought up in circumstances that differ from those of their peers, and need to be more independent and responsible, to mature faster. The parents may feel guilty for not being able to offer them enough of their time and attention. If this is compounded by the enormous challenge of emigration, sometimes combined with a temporary separation from one parent, healthy children become yet another victim of the situation. For them, leaving involves a change of environment, losing friends, the need to adapt to a new

Figure 6.3.  Education and professional activity. Source: Own work.

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school, where everyone communicates in a foreign language. This problem affected half of the families that participated in our study. THE FIRST YEAR The respondent families were asked to rate their first year of emigration in terms of housing conditions, quality of life, social support, economic, and psychological condition in comparison to their predeparture circumstances (figure 6.4.). The majority of families appreciated the social support (such as free counselling, subsidies for flat rental, language classes, help with childcare) available to them in the new country (61 percent, of which 39 percent appreciated it very much), although 26 percent of respondents considered this support to be less significant when compared to their previous situation. From the point of view of families originating from Poland, the systemic social support in Germany was experienced as more intensive, with 67 percent of families finding it more favorable than in Poland, and as many as 47 percent much more favorable. Half of the respondents have experienced deterioration of their family’s economic situation, and as many as 36 percent considered this deterioration to be significant. For 33 percent of families, moving abroad has not changed anything in this respect, for 17 percent the situation improved, and for 4 percent it improved significantly. In the group of families of Polish origin, their economic situation deteriorated for 55 percent of the respondents, of which 45 percent reported that it deteriorated very much, while for 20 percent the

Figure 6.4.  Family situation. Source: Own work.

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situation improved, of which 5 percent reported that it improved very much. For 25 percent the situation remained comparable. To be able to move, it was necessary for the family to find a flat, which in big German cities tends to be difficult, especially if the tenant’s professional situation is not stable. On the one hand, families needed housing adapted to the needs of their child living with a disability; on the other hand, time pressure forced them to accept substandard housing conditions, at least in the first months of their expatriate life: “The beginning was difficult, we lived in one room at a friend’s place, my husband went to work, and we were confined to the third floor because I was not able to go downstairs with my disabled daughter.” Under time pressure, some families resorted to a very expensive option of using a real estate agency. Indeed, it was clearly reflected in the survey results: 67 percent of the respondents said that their housing conditions had deteriorated (in 38 percent of cases they had deteriorated considerably), 29 percent stated they were similar to those before their move, and 4 percent reported them to have slightly improved. Among Polish families, these assessments were similar to those of all respondents. It should also be noted that some families decided to move because their child had qualified for a clinical trial of a drug that was then still under consideration. These families were provided with accommodation and assistance with living costs for the duration of the trial. This situation applied to 38 percent of the respondents. The assessment of the quality of life during the family’s first year in emigration paints a gloomy picture (in terms of material and non-material conditions, including the standard of living, cost of living, health, relationships, and social networks): 80 percent of the families found that the quality had decreased, and as many as 35 percent of the respondents stated that it had decreased significantly, while only 12 percent of the families considered their comfort of life had improved. Polish families ranked this parameter slightly more positively: 75 percent of respondents stated the quality had decreased, 15 percent that it had increased, while 10 percent that it had not changed. The families’ decision to move was made to save the lives of their children. Therefore, by achieving their goal, they might have also achieved peace of mind and joy. However, struggle to save their child’s life came at a cost, involving enormous stress, sacrifice and mental strain. Ninety-two percent of families stated that their mental condition had deteriorated during the first year in the new country, for 75 percent it had deteriorated a great deal, for 8 percent it was comparable, and no one reported any improvement in this respect. Among Polish families, the figures were even more alarming: 95 percent of families felt the negative impact of the move abroad in terms of their mental well-being, as many as 80 percent considered the impact to be very negative. Even with the help of a psychologist, it was difficult to cope with this kind of trauma, as it involved too many negative factors affecting

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the families within a short period. Here is an excerpt from one of the interviews: “It was blow after blow: a diagnosis that would soon take my child away from me and would devastate our lives. Apparently, there is a possibility to treat the disease, but not in Poland, and ideally, we should leave quickly because the child’s current condition is important.” Another parent emphasized: “In Poland everything had just started to fall into place, but we had to start from scratch again, but we had other option.” In families with many children (63 percent of those interviewed), the risk of the disease also loomed over siblings and required further tests (in 35 percent of those interviewed, the disease affected more than one child, in 21 percent it affected all of the children). “You think it is impossible for such a tragedy to happen to you again, but unfortunately, as you can see, it can, both for the second, and the third time,” one mother recounted. There were also cases where one child in a family received treatment and the other did not—a difficult situation with which the families had to deal while away from their loved ones. “You think we will still come back to Poland. . . . No, we won’t,” one father summed up the situation in a conversation with his wife after they moved abroad, being fully aware that it was a long-term move associated with the need for lifelong therapy. For some families (63 percent), the necessary decision to move abroad also involved the difficult decision to temporarily separate from the closest family members: spouse, partner, other children. Some marriages did not survive: “My ex-husband still has his business, and as a result we are no longer a family.” (The marriage ended in divorce.) Some families (13 percent) were accompanied by an additional person (grandmother or aunt) to help with the family logistics during the first period of adaptation in the new country. In such situations, the family was also learning to live together. It should also be noted that the accompanying person was also leaving behind their life in Poland. “We leave to save our only child, and our loved ones stay in Poland. We talk on the phone every day but feel that we are missing out on so much, that we will never make up for it. It is very painful,” was how one mom described separation from her parents and siblings. Families had to efficiently coordinate many activities to enable life in the new place: finding a flat, a job, at first any job at all, make school arrangements for their healthy child. This initial adrenaline rush drained over time and a feeling of despondency set in, which was further exacerbated by: the treatment procedure regime (hospitalization every fourteen days) and the risks associated with the treatment, including possible infections at the port (Rickham reservoir) enabling drug administration. In many cases, lack of language competences caused additional difficulties. This means that the individual and societal costs of health emigration are considerable and should not be underestimated when determining systemic solutions for rare diseases.

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RETURN TO THE HOME COUNTRY—WHY NOT? The decision to leave the home country is a difficult one, but, as the parents emphasized, “we have no choice—without treatment, the disease will take our child away from us in no time and the treatment allows us to gain some time.” Since the reason for moving abroad is the lack of treatment available in the country, it is reasonable to assume that once reimbursement for the drug is introduced, families may choose to return. However, 50 percent of the total number of our respondents declared that the introduction of treatment in their home country would not encourage them to return, 46 percent that they would return, and 4 percent were not able to predict their decision. In the group of respondents of Polish origin, the proportions were equal—half of the families intended to return, half did not. What motivated their decisions (figure 6.5.)? It turned out that the majority of families (in the general and Polish group) were most concerned about unstable reimbursement decisions, their withdrawal or changes in funding conditions during treatment. “I can’t imagine panicking every six months because treatment may not be extended. Here, at least, I do not need to worry about that,” stated one of the parents. In Poland, the duration of programs involving provision of specific drugs for rare diseases is set to be two years. The medical community considers the detailed conditions for monitoring the effects of therapy, inclusion and exclusion of patients from the drug program as sometimes too restrictive, thus serving not the needs of patients but only the purpose of control over public finances. The patient is not sufficiently protected in the event of potential issued with treatment funding, as evidenced by recent experience of MPS patients (Łojko et al. 2020). Another very important factor is the support offered to families with children living with disabilities in Germany, which is currently far greater than in their home country. Slightly more than half of the families are also concerned about the lack of experience in therapy management on the part of the

Figure 6.5.  Return to the home country. Source: Own work.

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medical staff. Seventeen percent are tired of life changes and would not like to go through them again. When talking about inequalities in access to treatment, apart from the problem of lacking therapy reimbursement options, it is also important to raise the issue of the distances that patients need to cover while commuting to specialized centers within the country, especially if they are chronically ill. While it is important for their comfort that these distances are as short as possible, in rare diseases, patients and their carers tend to prioritize experience and quality of service over distance. They are therefore willing to travel further to be under the care of the best specialists. INTERDEPENDENCIES—WE NEED SUSTAINABLE MANAGEMENT The World Health Organization (WHO) emphasizes that the rare nature of a disease does not mean it is not important, therefore reducing inequalities in access to treatment for patients with rare diseases should be a priority (Vogler et al. 2018). The European Parliament has emphasized that patients with rare diseases have the same rights as those suffering from common diseases.21 The last two decades have seen a fundamental change in approach and advances in treatment options for some of these diseases. Patient support, of course, involves a broader horizon of needs and activities, not limited to drug reimbursement. Here, however, for the purposes of this chapter, I wish to shift the focus to this particular aspect. After all, the possibility and access to effective treatment is what every group of patients strives for, even if medicine currently offers them nothing but symptom mitigation. This is all the more reason, in the few cases where a patient can be treated but is not offered such a possibility, categorical opposition to these inhumane practices of omission should come from the rare disease community. Numerous efforts, focused on stimulating scientific research and action by the pharmaceutical industry, translate into more and more therapeutic options for rare disease patients, but this is not followed by a proportionate increase in the number of patients who benefit from these therapies. Equal treatment of rare and common diseases in terms of investment in medicines is only one side of the coin in such a “competitive” situation. Another inequality pitfall occurs after the drug has been successfully developed, but its availability varies, and access to it is limited by national borders, along with individual country’s choice to grant or withhold treatment reimbursement, or to reimburse it in a limited scope of cases. From the point of view of patients and their families, this is tragic.

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Based on data provided by entities that belong to MetabERN,22 two-thirds of the orphan drugs approved by the EMA for the treatment of inherited metabolic diseases—including CLN2—are available to patients. But the treatment is actually often available to less than half of the patients, due to their clinical condition, the characteristics of the treatment procedures or the personal choice of the patients (Heard et al. 2020). Orphan drugs are most widely available in Germany and France, with other countries reimbursing 30–60 percent of OMPs. Differences in healthcare system governance also exist within specific regions (e.g., Italy) (Merlini et al. 2020). It is also worth looking at the data presented in a report compiled for the Visegrad Group countries (Poland, Czech Republic, Slovakia, and Hungary from Central Europe), which show a significant gap in access to diagnostics and treatment of selected disorders and disparities that exist between these countries. The GAP index, defined on a scale of 0–100, should be interpreted to mean no access if the value is 0 (high GAP) and no limitation in access for the value of 100 (low GAP). In rare diseases—the study covered four of them: cystic fibrosis, SMA, lymphoma and acute myeloid leukemia—Poland had the lowest overall score (34), followed by Hungary (38), the Czech Republic (39) and Slovakia (40). Detailed results related to three indicators: time between drug registration and availability of reimbursement, the share of patients receiving new therapies and reimbursement limitations. Poland stood out positively only for SMA in terms of time needed to ensure drug reimbursement (Władysiuk et al. 2022). A factor that clearly differentiates reimbursement policies worldwide is the cost of medicines. Thus, from the point of view of public payers, the more orphan drugs there are to be funded, the bigger strain for our budgets. If we add that one dose of an orphan drug may cost as much as therapy for hundreds of patients affected with “cheaper” conditions, any decision-making in this area becomes nearly impossible. On the other hand, rare diseases cannot be subjected to market games, hence when it comes to pricing orphan drug, we definitely need a different approach, transparency and common sense in line with “Accountability for Reasonableness” (A4R) (Blonda et al. 2022). Experts fully agree on the need to change the rules for the evaluation of orphan drugs in reimbursement processes, as the traditional HTA, based on statistically justifiable scientific evidence and designed to demonstrate the cost-effectiveness of the technologies under evaluation, is clearly insufficient (Nojszewska and Walewski 2019). Other concepts that would be more suited to the specificities of rare diseases are now being discussed, with multiple-criteria decision-making (MCDA) coming to the fore in such debates (MCDA Consortium 2020). My team and I also considered how elements of sustainable project management could be applied in decision-making processes, enabling a broader perspective on the problem and incorporating

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sustainable development goals, among which rare diseases have also been highlighted (Juchniewicz et al. 2021). In my view, however, the evaluation itself is not the core of the problem. Current legislation in Poland does not preclude treatment of rare diseases— provisions are imperfect and do not take into account the specificity of these disorders—but do not block reimbursement decisions. The patient community, however, is very concerned about the draft amendment to the reimbursement act, which could introduce such limitations, going against all demands and global trends.23 The draft legislation creates cognitive dissonance when juxtaposed with the provisions of the 2021 Rare Disease Plan24 and positive developments of the last few years that benefited patients of several rare diseases in Poland. It also introduces a particularly dangerous solution in the form of an administrative decision regarding the inclusion/exclusion of a patient from a drug program without the possibility of appealing against such a decision. The proposals go against the demands put forward by patients’ families, wishing to secure their right to make their own decisions in this respect, with the possibility to consult a team of specialists who are familiar with both the disease and the patient (Mole et al. 2021). Restrictive criteria for inclusion and exclusion from a treatment program (especially one as subjective as health status) and the associated instability, create a sense of discrimination, and, as the studies presented above indicate, are a major inhibitor in terms of the patient’s families decision to return to their home country. I share the view that to address medical needs and to make a real improvement in the provision of care to patients with rare diseases, we need a new philosophy and culture of support system management. There is a need for a multidisciplinary approach and the involvement of different stakeholders in the assessment of medicines, especially by patients. This should be guided, more so than in the case of common medicines, by the context of their unmet needs, multiplying inequalities and the social value of action for rare diseases (Jommi et al. 2021). During recruitment stage for clinical trials, and at all other stages, there is a need for cross-state partnerships and real collaboration between all stakeholders within a stable legal framework. The power struggle in the triangle: pharmaceutical companies—healthcare systems—patients and their physicians needs to be replaced by sustainable governance based on mutual trust and respect with explicit consideration of the voice of the medical and patient community (Berdud et al. 2020). The aim of such collaboration should be to spend money efficiently, rather than save it, following sound rules. The zebra syndrome can be tackled effectively by looking at the problems and finding solutions within the broader EU perspective. It is a complex, but feasible task. The recent COVID-19 pandemic has demonstrated that much can be done in a faster and different way. In the case of rare diseases—although

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there is no doubt that the last few years have seen great progress in terms of therapies and awareness—it is still possible to do more, faster, and, I wish to add, distribute benefits more evenly. For rare disease patients, the pace of action is as important as it was during the COVID-19 pandemic; many diseases progress very quickly, and patients simply do not have time to wait for positive administrative decisions. The desired situation, that is, an EU-wide real access to orphan drugs, would also have many positive side effects. Shorter administrative pathways, saved time, labor, and costs is one thing. Deliberate selection of the order of countries in which drug manufacturers apply for reimbursement would become irrelevant. Central access would also eliminate the problem of health emigration, which constitutes a systemic pathology, with the patient’s life depending on which side of the border they happen to reside. Moreover, patients are subject to discrimination, since those who require guaranteed benefits which are not provided in their home country have the right to be reimbursed for treatment abroad within the framework of cross-border cooperation.25 Rare disease patients cannot exercise such right. They have to move permanently, even though the European Union authorities indicate that there is a legal possibility for rare disease patients to seek diagnosis and treatment in other member states if these are not available in the member state where they are covered by insurance.26 Economic studies indisputably demonstrate that the health status of the country’s population is a double-edged weapon—it is the result of economic growth, but it also strongly determines such growth (Nojszewska 2017). Therefore, it is important to consider the problem of limited resources, including financial resources, from the perspective of the entire state budget, not just the budget managed by the ministry responsible for the health system. This perspective should also include the full budgetary picture, both expenses and income, above all the long-term ones resulting from the impact of decisions taken and projects implemented in the years to follow, not only for rare diseases, but for health in general. Thirty percent of children’s hospital admissions are due to rare diseases, and so are 10–25 percent of chronic diseases in adults.27 For the treatment of the underlying disease, these costs can be avoided. Improving the health status of those suffering from common diseases also allows savings in the budgets of several ministries, which can then be used effectively in other areas of healthcare. Moreover, in my view, sustainable, and, thus, responsible, management dictates that health needs should be prioritized, even if this entails reducing public expenditure in other areas of life, such us cultural development, which most often citizens are able to cover from their own pocket without state assistance, provided the health situation within the family makes it possible. The scale of emigration because of rare diseases may not be significant, but we should remember that it affects whole families, who have been educated, and who have worked in the home

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country, and who are bound to move, often with their other healthy children, which generates measurable losses for the domestic system. Since every system works on the principle of mutual interdependencies, every move within it matters, including the emigration of families for health reasons. We may say, with irony, that moving abroad is also a kind of solution, one that is, paradoxically, beneficial for the main stakeholders—a “win-win-win” triad—patients receive treatment, the Polish payer saves money, the manufacturer sells the drug and on a more stable market (Skweres-Kuchta and Władysiuk 2020). The long-term effect, however, is that nothing happens locally in terms of systemic approach to a given disease. The emergence of treatment provides a strong stimulus for the development of medical knowledge and expertise among doctors (Verma et al. 2022), but also the processes around treatment: diagnosis, rehabilitation, innovation in the face of unforeseen changes (Schwering et al. 2022). Here, all these elements become “unnecessary.” We should remember that not all families can afford to move abroad. Those who stay are doubly disadvantaged, because the knowledge that could support them has only been created in the neighboring country (Nickel and Schulz 2022). The second major consequence relates to diagnostics, which simply cannot improve without relevant knowledge and experience. There emerges a further gap within screening plans, which would otherwise be justified, but due to the lack of treatment in the country, cannot formally be included within newborn screening procedures. Limited efforts to address health inequalities mean that disparities in the development of systemic solutions are widening, affecting many areas. Lack of treatment generates specific blind spots in the system within a given country, while the phenomenon of health emigration may make the blind spot effect persistent over many years. The research presented in this chapter has a limited scope and is a case study that, as characteristic of rare diseases, involve a narrow range of respondents. Drawing further conclusions depends on its extension to cover other countries and/or other rare diseases. Such research would provide us an idea of the scale of the problem, which undeniably has a number of negative consequences at both micro and macro levels. A follow-up study including the same group of respondents would also be beneficial and would enable observation of changes in families’ attitudes as a function of the duration of their stay in the host country. However, this pilot study has already revealed a greater reluctance to return to the home country among those families who had been residing in the host country for a longer period, although their views were also influenced by other factors. The situation of healthy siblings, who have so far been relatively neglected in research is yet another avenue that is worth exploring, especially in the context of health emigration. The same applies to the host country’s perspective on the matter. The emergence of

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a significantly negative phenomenon of emigration in rare diseases cases, in response to positive changes in terms of the number of available therapies provides a rationale to anchor the management of such diseases in a supra-national level. To ensure sustainable management of rare diseases, we need a union of states and stakeholders, a union without any blind spots, where the zebra syndrome can be successively neutralized. Experts have stressed (Pieklak et al. 2020) that in Poland, it is now necessary to move from the planning to the implementation phase. REFERENCES Abrahamyan, Lusine, Brian M. Feldman, George Tomlinson, Marie E. Faughnan, Sindhu R. Johnson, Ivan R. Diamond, and Samir Gupta. 2016. “Alternative Designs for Clinical Trials in Rare Diseases.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics 172 (4): 313–31. https:​//​doi​.org​/10​ .1002​/ajmg​.c​.31533. Berdud, Mikel, Michael Drummond, and Adrian Towse. 2020. “Establishing a Reasonable Price for an Orphan Drug.” Cost Effectiveness and Resource Allocation 18 (1): 31. https:​//​doi​.org​/10​.1186​/s12962​-020​-00223​-x. Black, Nick, Fred Martineau, and Tommaso Manacorda. 2015. “Diagnostic Odyssey for Rare Diseases: Exploration of Potential Indicators. London:” London: Policy Innovation Research Unit, LSHTM. https:​//​piru​.ac​.uk​/assets​/files​/Rare​%20diseases​ %20Final​%20report​.pdf. Blonda, Alessandra, Yvonne Denier, Isabelle Huys, Pawel Kawalec, and Steven Simoens. 2022. “How Can We Optimize the Value Assessment and Appraisal of Orphan Drugs for Reimbursement Purposes? A Qualitative Interview Study Across European Countries.” Frontiers in Pharmacology 13 (July): 902150. https:​//​doi​.org​ /10​.3389​/fphar​.2022​.902150. Bouwman, M. G., Q. G. A. Teunissen, F. A. Wijburg, and G. E. Linthorst. 2010. “‘Doctor Google’ Ending the Diagnostic Odyssey in Lysosomal Storage Disorders: Parents Using Internet Search Engines as an Efficient Diagnostic Strategy in Rare Diseases.” Archives of Disease in Childhood 95 (8): 642–44. https:​ //​doi​.org​/10​.1136​/adc​.2009​.171827. Claussen, Matthias, Peter Heim, Jarold Knispel, Hans H. Goebel, and Alfried Kohlschütter. 1992. “Incidence of Neuronal Ceroid-Lipofuscinoses in West Germany: Variation of a Method for Studying Autosomal Recessive Disorders.” American Journal of Medical Genetics 42 (4): 536–38. https:​//​doi​.org​/10​.1002​/ ajmg​.1320420422. Czech, Marcin, Aleksandra Baran-Kooiker, Kagan Atikeler, Maria Demirtshyan, Kamilla Gaitova, Malwina Holownia-Voloskova, Adina Turcu-Stiolica, et al. 2020. “A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries.” Frontiers in Public Health 7 (January): 416. https:​//​doi​.org​ /10​.3389​/fpubh​.2019​.00416.

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NOTES 1. Rare 2030. Panel of Experts, United Nations: New York, NY, USA, 2021; High-Level Ministerial Conference: Care and Innovation Pathways for a European Rare Diseases Policy, Eurordis—Rare Diseases Europe: Paris, France, 2022; Breaking the Access Deadlock to Leave No One Behind, Eurordis-Rare Diseases Europe: Paris, France, 2018. 2. Patients’ rights in cross-border healthcare, P6_TA (2009)0286, European Parliament legislative resolution of 23 April 2009 on the proposal for a directive of the European Parliament and of the Council on the application of patients’ rights in cross-border healthcare (COM(2008)0414—C6-0257/2008–2008/0142(COD)), 2010/C 184 E/73. 3. Act of 27 August 2004 on healthcare services financed from public funds (Journal of Laws 2021, item 1285 as amended). 4. Act of 7 October 2020 on the Medical Fund (OJ 2020.1875); https:​//​www​ .medgen​.pl​/pl​/nfz. 5. Resolution No. 110 of the Polish Council of Ministers of 24 August 2021 on the adoption of the document Plan for Rare Diseases (M.P. 2021 item 883). 6. https:​ / /​ w ww​ . globalrarediseasecommission​ . com ​ / Report, https: ​ / / ​ w ww​ .globalrarediseasecommission​.com​/OurWork. 7. https:​//​przesiew​.imid​.med​.pl​/choroby​.html. 8. https:​//​www​.gov​.pl​/web​/zdrowie​/program​-badan​-przesiewowych​-noworodkow​ -w​-polsce​-na​-lata​-2019​-2026. 9. Proposal on the revision of the orphan medicinal products and pediatric regulation, Eurordis, 2022. 10. The European Parliament and the Council Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on Orphan Medicinal Products. Off. J. Eur. Communities 2000, L18/1. 11. Annual report on the use of the special contribution for orphan medicinal products. Year 2021. EMA/770190/2021.

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12. www​.platynowadruzyna​.pl. 13. https:​//​www​.orpha​.net​/orphacom​/cahiers​/docs​/GB​/Registries​.pdf. 14. https:​//​www​.ema​.europa​.eu​/en​/medicines​/human​/EPAR​/brineura. 15. The Agency for Health Technology Assessment and Tariff System is a consultative and advisory entity with legal personality, supervised by the minister of health. The role of the agency is to assist the minister of health in the decision-making process with regard to the financing of medicines and other technologies in the healthcare system, https:​//​www​.aotm​.gov​.pl​/en​/about​-us​/. 16. https:​ / / ​ e ​ - medycyna ​ . pl ​ / 2022 ​ / 06 ​ / 21 ​ / choroby ​ - rzadkie ​ - i ​ - ultrarzadkie ​ - w​ -codziennej​-praktyce​-lekarskiej. 17. The European Parliament and the Council Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on Orphan Medicinal Products. Off. J. Eur. Communities 2000, L18/1. 18. Orphan Medicinal Product Designation. Overview 2000–2021. European Medicines Agency, 2022. 19. https:​//​www​.screening​-dgns​.de​/Pdf​/RichtlinienGesetze​/RL​_Screening2019​-08​ -09​.pdf. 20. https:​//​www​.eurordis​.org​/our​-priorities​/diagnosis​/newborn​-screening. 21. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare, OJ L 88, 4.4.2011, p. 45–65. 22. MetabERN is European Reference Network (ERN) focusing on rare metabolic diseases. European Reference Networks (ERNs) have been created by the European Union to enable on-line exchange of knowledge between specialists in specific disease categories, so that it can reach patients in different countries, https:​//​health​.ec​ .europa​.eu​/european​-reference​-networks​_en. 23.Act amending the Act on reimbursement of medicines, foodstuffs for special nutritional purposes and medical devices and some other acts. Draft dated 13.10.2022. 24. Resolution No. 110 of the Council of Ministers of 24 August 2021 on the adoption of the document Plan for Rare Diseases, Monitor Polski, Warsaw 2021. 25. Act of 27 August 2004 on healthcare services financed from public funds (Journal of Laws 2021, item 1285 as amended). 26. Regulation (EC) No 883/2004 of the European Parliament and of the Council of 29 April 2004 on the coordination of social security systems; Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare, OJ L 88, 4.4.2011, p. 45–65. 27. https:​ / / ​ e ​ - medycyna ​ . pl ​ / 2022 ​ / 06 ​ / 21 ​ / choroby ​ - rzadkie ​ - i ​ - ultrarzadkie ​ - w​ -codziennej​-praktyce​-lekarskiej​/.

Chapter 7

“Are You a Disabled Person?” Disability and Rare Metabolic Disorders in Poland Jan Frydrych Translated by Katarzyna Byłów

In this chapter I attempt to conceptualize and contextualize disability understood both as a social science category and as part of the lived experience of research participants, that is, patients with rare congenital metabolic diseases and their families. It also involves a self-reflecting exercise on the researchers’ concerns and attempts to address these. In the first section of the chapter, I introduce the diseases under study and outline my main research questions related to disability, to then briefly discuss concepts of disability from both academic and historical perspective and contrast them with the actual experience of research participants. In the following sections, I report how patients and their families view disability and the resulting exclusions, within a formal system based on disability rulings and all the related issues. In this context, I propose to use the term “judicialization of disability,” related to the necessity to take legal action to obtain relevant disability certificate. In the final section, I address the stigma and identity aspects of disability.‌‌

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RARE CONGENITAL METABOLIC DISEASES AND DISABILITY The author: Do you consider yourself to be a person with disability? Błażej:1 Frankly speaking, if I were to decide in my case, it would be half and half, so to speak. The author: Do you think your children are disabled? Marta: (Franek and Ewelina’s mother): No. (long pause) [My] children are extraordinary.

The above questions seem to be fairly straightforward, but in the context of disability studies they prove rather problematic. The first difficulty involves the manner of asking such a question. Attempts to remove stigma associated with disability would have it asked in the following way: “Does Franek have a disability?” (Galasiński 2013; Nowosad 2021; Zdrodowska 2016; Bańko, Linde-Usiekniewicz, and Łaziński n.d.).2 Or, perhaps the question should be: “Is Franek a disabled person?”—that is probably how most of us, including some people with disabilities would formulate the question, and so would the Deaf and activists, as well as organizations for people with disabilities, also working toward removing the disability-related stigma (Dunn and Andrews 2015; Nowosad 2021). It is also significant if I choose to write “the Deaf” using capital letter or not (Smakowski n.d.). To be on the safe side, we should perhaps ask Franek himself about it: “Franek, do you consider yourself to be a person with disability?” Like in all other fields of study focusing on identity, scholars in disability studies stress the importance of the nothingabout-us-without-us principle (Charlton 2004, 3). The problem, however, lies in the fact that Franek—like the majority of the people participating in this research project,3 is a young child. I admit that, writing this text, I am still unsure as to the manner in which I should have asked the above question, and I know how uneasy I felt actually asking it.4 Franek has VLCADD (very long chain acyl-CoA dehydrogenase deficiency), a rare congenital metabolic disease that belongs to the group of fatty acid oxidation disorders (FAODs) (see, e.g., Merritt II, Norris, and Kanungo 2018). The boy, however, looks and behaves just like other children his age, and his family has found it difficult to procure a disability ruling for him. According to his mother, Franek is not a disabled person. However, Franek and his parents require a disability certificate and more specifically, as I explain later in this chapter, they need ruling based on items 7 and 8, granting them right to a monthly allowance of 2119 Polish zloty (the equivalent of around USD 470 at that time). Even though his disease may be invisible,

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the life that Franek and his family lead on a daily basis is significantly different from that of other families unaffected with an inherited genetic mutation responsible for his disease. Franek’s body does not metabolize long-chain fatty acids, that is, it cannot transform them into energy. On top of that, such substances can accumulate in Franek’s body and cause damage, so the mysterious acronym actually conceals a condition that tends to have severe consequences. Franek needs to stay on a special low-fat diet and eat frequently and regularly as both his life and health depend on it (Fahnehjelm et al. 2016; Bieneck Haglind 2016). Marta: You cannot have your child refuse to eat. Our children cannot go hungry. Hungry means they have developed a serious condition. We cannot allow them to feel hungry.

Skipping a meal or failing to balance the caloric intake due to, for example, exertion or illness, poses risks of so-called metabolic decompensation, a condition resembling hypoglycemia. Without prompt medical intervention, such as an infusion of glucose, metabolic decompensation may lead to death. The body will try to find the necessary energy by digesting itself, which may lead to muscle breakdown, the so-called rhabdomyolysis, and ketoacidosis, which is the poisoning of the body that generates its energy in an incorrect way. The process is likely to cause symptoms such as muscle pain, lethargy, lack of appetite, and vomiting. Here is how an adult patient with one of the FAODs described such an incident: Kinga: I found it difficult to cover a mere 15 meters. Over the weekend, I developed a terrible fever and on Sunday I was completely stiff. On Monday, as my parents were driving me [to the hospital], I cried all the way there, because I was bent on the back seat. Somehow, they managed to put me in the car. The potholes were a torture. I was trying to lie on my side. My body reached the acidosis level of 56 thousand.5 I had an ongoing fever and was suffocating. Over the course of three weeks my muscles were pretty gone (Kinga lost eighteen kilograms in several weeks).

In the first months of the patient’s life, the dietary regime is very strict, with the child eating every three hours. With time, the intervals between meals become longer, but for the rest of their life, patients need to ensure their meals are regular, provide specific amount of nutrients in an appropriate way (Fahnehjelm et al. 2016; Bieneck Haglind 2016). Also, patients are usually frequently hospitalized. Even if their diet is strictly controlled, frequent infections in children, despite their parents’ best efforts, can still result in decompensation. Usually, one of the parents decides to give up work and provide full-time care for the child (Klajmon-Lech 2018, 54–55).

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Now, let us come back to disability. The second difficulty in asking about it involves the way in which we are to understand the answer to the question “are you a disabled person?” Even if we overcome the first difficulty and manage to ask the right person in the right way, we still need to figure out the meaning of their reply. What does it mean when Franek’s mother tells me that Franek is not disabled? In such case, should not the parents refrain from applying for a disability certificate? What if Franek himself gives the same answer? And what if he disagrees with his mother? Or should I, an anthropologist focusing on disability, be able to decide whether Franek has a disability or not? Careful reflection on such issues may lead us to ask some key questions: first, what is disability, and more precisely—what constitutes disability according to Franek and his mom; second, what constitutes disability within the framework of disability studies; and finally, is “disability” a cognitively useful category in the study of rare congenital metabolic diseases? At this point, before I present the accounts provided by research participants focusing on different aspects of disability, the above questions require me to briefly outline how disability has been approached within academia and from cultural and historical perspectives. THE HISTORY OF DISABILITY AND THE EMERGENCE OF DISABILITY STUDIES “To understand the disabled body, one must return to the concept of the norm, the normal body.” (Davis 2016, 16)‌‌

  From the academic point of view, disability is an extremely enigmatic and problematic category. The social sciences interest in disability has been fairly recent and a separate scientific field of disability studies emerged only in the second half of the 1980s, along with the wave of identity-oriented turns and the involvement of people with disabilities in various emancipation initiatives (Davis 2016; Shakespeare 2017; Zdrodowska 2016). Disability is such a complex category, so thoroughly entangled with history, and social and political matters that no single definition of it can be regarded as exhaustive. Despite being less than forty years old, disability studies have already managed to develop several different theoretical approaches, including ones that depart from the category of disability—considering it too obscure and politically charged—such as critical disability studies. Initially, disability studies focused on issues such as medicalization of disability and ableism, based on

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determinants of the norm, that is, on the medical model of disability (Davis 2016; Shakespeare 2017). From the point of view of culture and history, the issue of disability has been at least as problematic. Illness and functional impairment/disability have accompanied human beings since the dawn of time. Different times and cultures exhibited a whole range of different approaches to disability. In some cultures, impairments found affirmation (e.g., dwarfism in ancient Egypt), while in others they were subject to elimination, for example, through the custom of abandoning newborn babies with disabilities (e.g., in ancient Greece). In modernity, in Western cultures, physical and mental impairments/ disabilities have been systematically incorporated into the system of medical and social surveillance and its restrictions, slowly becoming disabilities as we know them today (Shakespeare 2017, 24). According to Lenard Davis (2016) this process has been rooted in the norm and normative medicalization processes. THE NORM Although “norm” as such is a relatively recent category, and the word itself along with its derivatives only came into common use in Europe in the mid-nineteenth century, it has become one of the foundations of biopower and a key reference point in medical science (Foucault 2020; Bińczyk 2002). The emergence of the category of norm was possible through the development of statistics. Normal distribution turned out to be a great tool for describing the characteristics of human bodies. The norm, harnessed to the mechanisms of biopower, became a tool that enabled distinguishing desirable characteristics from deviations. Incorporated into medical science back in the nineteenth century, it has also provided grounds for normative exclusion. It was the norm, combined with Darwin’s theory of evolution and idealization of certain traits within a normal distribution (e.g., above-average intelligence, tall stature) that sparked the eugenics (Davis 2016). It was also the norm and statistics that enabled the development of risk factors’ concept in the twentieth century, highlighting the impact of lifestyle on the likelihood of particular disease incidence (Vigarello 1997; Dworkin 2008). Traits that are now considered as synonymous with disability, back in the nineteenth century and as late as the early twentieth century were being eliminated through eugenics or criminalized, for example, by force of the infamous ugly laws that banned the “unsightly,” diseased, or deformed people from public spaces (Davis 2016). There were also laws regulating a wide range of different characteristics that did not fit the norm. It was not uncommon to bundle together blind people, deaf people, mentally ill people, alcohol addicts, and criminals (Davis 2016).

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This slowly changed in the twentieth century, along with the development of welfare institutions and social initiatives. However, eugenics only lost its popularity at the end of World War II. Elżbieta Zakrzewska-Manterys identified mid-twentieth century as the moment when the current category of disability finally emerged. Nevertheless, according to Zakrzewska-Manterys, as late as in the 1970s, the Polish term for “disability” (Pl. niepełnosprawność) was still sometimes considered a “strange neologism” (Zakrzewska-Manterys 2016; see also Racław and Szawarska 2018). A major and most popular emanation of the category of disability relates the medical model of disability mentioned above. Within this approach, disabilities are medicalized, that is, subject to treatment, while the person with disability becomes a patient (Parsons 1975). Disability is seen as a deviation from the norm, as something undesirable and a cause of suffering. The source of disability is believed to lie in individuals—in their bodies. In the 1970s, as an expression of their disagreement with such an approach, the then crystallizing movement of people with disabilities brought about the so-called social model of disability (Shakespeare 2010). In contrast to the medical model conceived by able-bodied biomedical specialists, the social model prioritized the voice of people with disabilities. The approach introduced the now classic distinction between disability and impairment. Impairment is understood to be the physical characteristics of a body, while disability is a social or cultural factor that excludes people due to their impairment, for example, due to architectural barriers. Just like race and gender, disabilities are culturally constructed, and thus their sources are outside the person living with disability. Impairment is no longer associated with suffering and may no longer require medical intervention. The approach has been criticized on the grounds that it is often impossible to make clear-cut distinction between social and bodily factors that lead to disability and exclusion. As people with disabilities themselves point out, bodily characteristics can cause exclusion, while the category of impairment is also culturally constructed and medicalized (Zola 1972; see also Conrad 2007; Zdrodowska 2016; Shakespeare 2010). Such reflections have led to the emergence of a new theoretical turn of critical disability studies, which rejects previous binary oppositions and focuses on power relations, discrimination, and exclusion in the context of disability. The approach has been criticized by some committed scholars with disabilities for little emphasis put on the actual embodied experience of people with disabilities. Moreover, critical disability studies undermine the political agency of disability studies, since by rejecting the politically and ethically charged category of disability, they miss the possibility to unite people under a common agenda, and thus forego the identity aspect of disability studies

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and their related activism and political presence (Meekosha and Shuttleworth 2009; Vehmas and Watson 2014). DISABILITY IN CASE OF RARE CONGENITAL METABOLIC DISEASES—SOCIAL, EPISODIC, AND INVISIBLE DISABILITY OR EXCLUSION AND STIGMATIZATION Knowing the work of Anna Chowaniec-Rylke, the Polish trailblazing scholar in this particular field (Chowaniec-Rylke 2018; 2019a; 2019b), I was familiar with disability issues among people with rare congenital metabolic disease before I embarked on my ethnographic research. As she duly noted, the notion of disability in this context may be difficult to grasp, due to its fluidity and the fact that it eludes classic categorizations developed by disability studies (Chowaniec-Rylke 2018, 293). A significant number of respondents do not identify with the category of disability, for example, parents do not think their children are disabled (Chowaniec-Rylke 2019b, 172, see also Rogalski in this volume). Based on ethnographic research with families of people living with phenylketonuria (PKU) and LCHADD (see Chowaniec in this volume), Chowaniec-Rylke has analyzed the experience of patients and their caregivers in terms of social, invisible, and episodic disability, tracing the cause of difficulties such people experience in obtaining disability rulings and their difficulty in identifying themselves as persons with disabilities back to the periodic nature of their disease and its particular episodes, as well as the absence of its physical (visible) signs. Chowaniec-Rylke applies the social model of disability to describe exclusionary aspects of such diseases, that is, dietary regimes, exclusion from culinary practices and intensified caregiving practices forcing parents to give up paid employment (Chowaniec-Rylke 2019a, 293). While such an approach may be useful in highlighting specific characteristics of a disease and hardships associated with it, in my view, it creates the risk of overlooking important cultural characteristics that may cause people’s reluctance to identify with disability. Moreover, it seems legitimate to ask whether the exclusions mentioned by Chowaniec-Rylke can indeed be described in terms of social disability, especially since such exclusions and the resulting stigma are apparently not sufficient to make parents admit their children may have disability. In this context, another question arises, namely what exactly have I asked people about when I asked them about disability? Perhaps to learn about problems my interlocutors have been facing, I should have inquired about something else, for instance, following the critical disability studies’ theory of exclusions?

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To find an answer, I suggest we focus on the experience of a mother of two children with VLCADD who had gone through all the stages of the formal and legal procedure to secure disability rulings. Following the nothing-aboutus-without-us principle, I shall focus on the voice of a small and poorly studied group of adult patients. Knowing the usual features and the trajectory of their diseases, for example, LCHADD may involve progressive retinal degeneration in adults, I assumed that their approach to disability may differ significantly from that presented by parents of children living with such a disease. In the following section I present views expressed by both people with rare diseases and their caregivers. EXCLUSIONS Stanislaw is twenty-five years old and is the oldest person living with a rare metabolic disease that participated in this study. He was born before the disease was included in Poland’s newborn screening program in 2013 (Libura et al. 2016). Nevertheless, he was still diagnosed by medical specialists who even then were familiar and studying the inherited metabolic disorders. Stanislaw does not hold a medical certificate that confirms his disability, he actually believes that he does not need one, nor that he lives with a disability. Stanisław: All the doctors and my parents were always on the lookout for acidosis symptoms, making sure I do not throw up, so as I get the exact dose of protein. And they did not pay attention, for example, that I was unable to talk to my friends. Because, well, I just had problems, I also suspect that I may have Asperger’s syndrome, but it has not been diagnosed. And my problem was that I could not socialize, that I was isolated from children, for a long time, for those 6 years, which was related to this situation, that I had to be near the child health center. Well, also, since I was sick, I did not attend a kindergarten. Because when I went to the kindergarten for two days, I was then sick for two weeks. So, I just did not attend the kindergarten at all.

Stanislaw believes that the most excluding aspect of his illness was his isolation from peers. He also suspects that he has undiagnosed Asperger’s syndrome, which would explain his difficulties in making new friends. Stanisław: Well, I was really alone, I had no friends at all. Now, I don’t feel that I need them. I learned to live in solitude, and it would be more difficult for me to make friends now, than to just continue being a lone wolf, so to speak.

Stanislaw sees his childhood exclusion from the peer group as having a significant impact on his life. His diet, on the other hand, which his parents

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often mentioned as one of the most important factors shaping the family life, and as something that excluded him, does not seem to play such a role for Stanislaw himself. The author: Do you think that your diet may have been problematic or have cause exclusion? Stanisław: No. No. It [the diet] did not exclude me much, because in fact, I can eat everything. The only issue is that I should not overdose protein. But it does not cause exclusion, really. It does not create problems for me.

It was also the case for Błażej, thirty years old and the oldest patient with another rare metabolic disease. He too was not covered by the newborn screening procedures. However, he was quickly diagnosed since the disease was known to be running in his family. Like Stanisław, Błażej does not feel that his diet excludes him. In his case, the biggest challenge is something he calls “fatigue.” Błażej gets exhausted very quickly and, as a result, cannot find employment. Błażej: Yes, that is it, that’s probably it. The main thing that excludes me. The diet is something I have grown used to. The worst thing is just this fatigue, which excludes me from going to any, any kind of work. I cannot go to work and do a normal job.

Clearly, the diet and dietary rigor in adult patients does not significantly affect their life, nor is seen as something that would lead to their exclusion. Both interviewees pointed to other social exclusion factors that are more salient to them—difficulties in forming relationships and inability to work. This seems to differ from the situation faced by children living with such diseases and their parents. The consequences of the disease and the required dietary practices determine many aspects of the parents’ lives and affect their choice of both kindergarten and school, as well as their relationships with these institutions. Marta, who is a mother of two children suffering from one of the fatty acid oxidation disorders (FAODs), recounted her own experience as follows: Marta: Such children lead a very different life. From the moment our children were born, we have had to change our lifestyle. Wherever we go, we need to bring food with us. Hiking in the mountains is out of the question. Going out or stopping at a cafe is sadly not possible either, not with children. They would not be able to eat anything in a cafe. They are excluded from parties in their peer groups. Franek’s friends didn’t want to invite him for their birthday parties, because he would not be able to eat anything. It was a hassle for the parents, they would not prepare any special meals, although they could have just talked to us, that would be enough. So, he was excluded from his peer group. There was a

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problem with enrolling him in a kindergarten. The state-run kindergarten did not want to accept us. But, after all, you cannot exclude children like that. They said they would be doing their best but were unsure whether everything would be all right (. . .). For me, it was too much of a risk. Now he is in elementary school and there was already a problem there too, because in September I notified the school that the child has a disability and that he needs to eat his meals during breaks. And I asked if it would be possible for the teacher to make sure he does eat. After the parents’ meeting, I got a call from the class teacher saying that it would be better if I transferred my child to a private school, because they are not able to provide the care he needed. I told them that I won’t transfer him because I can’t afford tuition in a private school, and secondly, that he is no different from other children and that he can manage—he is responsible enough and we can manage. And if they find it difficult to just check if a child has eaten his meal, well . . . a little empathy. (. . .) We are excluded from social life. Wherever we go, we need to check the time, make sure we come back on time, how long it will take and whether he will have time to eat his meal. (. . .) So, it is quite a different life from the one people with healthy children have. We can’t let our child go somewhere and just come back home in the evening, because he must eat, and he is not able to buy his food.

The disease has a significant impact on the lives of both parents and their children. Although Marta used the term “child with a disability” when talking about Franek, later on in our conversation she refused to define her children as disabled. Stanislaw and Błażej did not use this term either, when they spoke about their exclusions. To make matters even more complex, and to present a full picture of disability and exclusions, I should also discuss the issue of disability certificates and disability adjudication panels. At some point in their lives, all of my interlocutors were issued such a disability certificate. ADJUDICATION PANELS Stanisław: Such adjudication panel appointments were not very nice. (.  .  .) I had such a certificate until I finished lower secondary school. Later, I stared high school, but when I went to be tested, it turned out they no longer thought I should get a ruling. I probably answered all wrong and I did not get the disability certificate.

Parents usually do apply for their child to be issued a disability certificate. To secure such a ruling, the case needs to be considered by a panel of the district disability adjudication team, who also checks the required documentation: “a medical certificate including a description of the medical condition, issued by the child’s main physician, as well as other documents that may have an impact on the disability adjudication process.” (“Dziennik Ustaw 2018 r. Poz.

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2027” n.d.). The disability adjudication panel includes at least two experts— the chairperson (a medical degree holder) and a physician, a psychologist, school counsellor, vocational counsellor or a social worker (“Dziennik Ustaw 2018 r. Poz. 2027” n.d.; CMS n.d.). The adjudication panel issues a ruling identifying the level of disability—which can be severe, moderate, or mild— and the right to the relevant allowance (“Dziennik Ustaw 2018 r. Poz. 511” n.d.). Rulings are often issued for a specific period, for example, four years, which many parents say is arbitrary and variable, despite the fact that the diseases in question are incurable. At the end of the given period, the disability adjudication panel needs to be asked to provide another ruling. Parents are mainly keen to have a ruling based on item 7, which involves the recognition of “the need for permanent or long-term care or assistance of another person resulting from a significantly limited ability to live independently” and item 8: “the need for constant daily participation of the child’s caregiver in the process of the child’s treatment, rehabilitation and education” (Rędziak n.d.). If one parent resigns from work and the child has been granted a ruling under provisions in item 7 and 8, the family is entitled to receive a “nursing allowance,” which is a monthly benefit of the gross amount of 2119 Polish zloty (ca. 450 euro) (Strzelecka n.d.).6 Even though such children definitely require “permanent or long-term care” (item 7) and there is “the need for constant daily participation of the child’s caregiver in the process of the child’s treatment, rehabilitation and education” (item 8), many research participants had trouble securing a ruling based on one or both of these items. Marta: I came to the adjudication panel meeting with my child who looks like a healthy child. I submitted the paperwork beforehand, but the doctor was not familiar with our documents, he was reading them when we were there and he was unfamiliar with this disease. (. . .) The medical results are OK, good . . . but that was only because the child was on a constant diet and really well looked after. Had I left my child for a week and did not watch over the food, it might end badly, perhaps in death. Maybe the previous doctor would have granted us a ruling based on item 7, because our medical test results were not so good then. Katarzyna (Błażej’s mother): I think that, perhaps, these adjudicating panels simply have wrong people sitting in them. Maybe they should include a metabolic disorder expert, and not a pediatrician or a psychologist. Since this is such a rare condition, there should be a specialist appointed for each specific case, or such a specialist should be consulted. And not—it may sound a bit strange and impolite—some general practitioner. What do they know? Whenever I brought him [Błażej] to the doctor anywhere, the doctors asked me if he can take such and such vaccine, or if they can administer this or that.

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In the case of rare diseases, the key clauses in the provisions that regulate disability assessment seem to be those relating to the composition of the adjudication panel, which should include experts familiar with the patient’s disease and, if necessary, enlist the assistance of an additional specialist. 1.  Preliminary verification of submitted documents referred to in para. 6, item 2 and 3 by the doctor designated by the adjudication team leader, in terms of its completeness and the need to proceed with medical examination confirming the diagnosis, as well as determination of the specialty area of the relevant panel’s chairperson that will adjudicate in the particular case of an adult or a child. 2.  Appointment of the adjudicating panel from among the members of the district and provincial adjudication team, referred to in paragraph 18 item 1, points 3–7, to review the application and issue a ruling, as specified in paragraph 7 item 1, or appointment of a physician from among members of the district team—a member of the team with relevant specialty training according to the diagnosed disease, to review the application and issue a ruling, as specified in paragraph 7 item 2; if necessary, the adjudicating panel shall additionally appoint a specialist on the coexisting disease, which may have a significant impact on the outcome of the adjudication proceedings. (“Dziennik Ustaw 2018 r. Poz. 2027” n.d.) Unfortunately, as the experience of research participants demonstrates, the above recommendations are often disregarded.7 To obtain rulings based on items 7 and 8 mentioned above, the applicants are often forced to take legal action—a phenomenon that social scientists have dubbed the judicialization of health. Judicialization of health refers to the increasingly frequent need to take legal action to guarantee access to medical services, specific drugs or, as discussed in this chapter, access to social benefits for people with disabilities (see, e.g., Biehl 2013; Aureliano and Gibbon 2020 for Brazil). Referring to a case of one of research participants, Joanna, a legal advisor who works pro bono, assisting people in obtaining their disability rulings, pointed out: The biggest problem is that there are no rare disease experts sitting on these panels. Right now, it was an internal medicine doctor and a psychologist, I think. Such doctors have no idea about specific aspects of these diseases, they don’t see patients living with such diseases on a daily basis. So, they are not able to assess the condition of such a patient. In my view, this is the crux of the problem. There are no experts involved at the stage of National Health Insurance adjudication.8 Experts who are really familiar with what it takes to live with

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such a disease, the symptoms, the prognosis, who can take a look at the person, do a more comprehensive interview, perhaps order some additional tests and then decide on these grounds. Not reach a hasty decision following a 10-minute examination. This is completely inadequate, benefits are refused when they absolutely should not be refused, when they absolutely should be granted or even be increased.

The ruling of the poviat/municipal panel can be appealed against at the level of the provincial (voivodship-level) team (which is a level above the poviat), while the ruling of the latter can only be appealed in court. Marta, Franek’s mother, as well as Błażej and his mother, went through all of the above stages to secure their child disability ruling and the relevant certificate. Marta: The first ruling was valid for five years; it was based on item 7. Then, there was a rejection of item 7 and a ruling valid for three years. We appealed to the provincial panel, which upheld the municipal panel’s decision. We appealed in court. More than a year to get an answer. There is a problem finding experts who could assess the situation. For example, we got paperwork for an expert physician, but unfortunately, he turned out to be our pediatrician, which excluded him from providing assessment. Next, the paperwork went to a doctor based in Wrocław, who I think did not find time to provide an expert opinion. We waited for a long time. The court kept sending notices about deadlines, but the doctor postponed it all. Eventually, he provided his assessment based on Franek’s EKG results and since his heart is stable, he claimed there was no need for item 7. But the doctor noted that this is an ultra-rare disease, so he would grant the disability ruling until age 16, since the disease cannot be cured. The court sent me this assessment, and—of course—I appealed again. The court asked yet another doctor to provide an assessment. That doctor, in turn, decided that we should definitely be granted item 7, as the disease cannot be cured, the child cannot cook for himself and watch over the calories. That it involves constant support from the parent (. . .). So, if you really take care of the child and really watch over everything the way it should be done, the results will often, though not always, be quite good. So, since he admitted that, I did not make any more appeals, even though he confirmed the municipal panel’s decision that the ruling should be valid for three years. And that was it, I recently got the ruling, and it is valid until 2023, so we probably will need to go through the whole thing again soon [the interview dated end of 2021].

Marta’s account demonstrated and put into focus the problems parents may face in obtaining a ruling and the tortuous path that leads to finally securing the required certificate. It may take a lot of effort, time and be emotionally exhausting. Moreover, the whole process may last several years. It provides a perfect example of judicialization of health, where access to medical care needs to be sought through judicial procedure (Biehl 2009; 2013; Aureliano

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and Gibbon 2020). Judicialization of health is based on the state-guaranteed right to medical care, based on legal provisions such as in Poland and Brazil. Asserting one’s rights forms the grounds for court procedure. In case of rare diseases, judicialization is usually associated with access to orphan drugs. However, there are no drugs that could be prescribed for the diseases that affect the people participating in this research. Such drugs are only available for 5 percent of rare diseases. In this particular case, we see the phenomenon that can best be described as the judicialization of disability. Although the state provides access to different benefits and allowances for people with disabilities, securing them sometimes turns out to be impossible without resorting to legal and judicial procedure. The practice has been so common that it tends to be widely discussed in relevant Facebook group, where parents share their experience in dealing with panels and court procedures and assist each other by sharing appeal-form templates. In the context of his research in Brazil, João Biehl (2009, 2013) pointed out that judicialization may result from insufficient funding for health care or from poorly designed law that make it difficult or impossible for people to exercise their state-guaranteed rights. Moreover, judicialization may also exacerbate inequalities in access to medical care, may not be resistant to pharmaceutical company lobbies, and lead to funds being misspent on court-related expenses instead of on health care. Difficulties in obtaining rulings are part of a broader picture of systemic problems faced by people with rare diseases (Grut and Kvam 2013). However, such diseases also involve facing another very specific burden related to the stigmatization and stereotyping of disability. STIGMA AND ABLEISM The author: Do you consider you children to be disabled? Marta: No. [My] children are extraordinary. Different from others. Disabled does not sound nice to us. They are extraordinary.

Whenever I asked the question that is the title of this chapter, the first reaction was usually consternation, followed by denial. The reason may be that in Poland, disability is inextricably linked to stigma. Stigmatization, as in Erving Goffman’s now classic 1963 Stigma, is yet another ambiguous category. The book was published nearly seventy years ago and even though the author used the term “disability,” he also referred to “impairment,” “handicap,” and “cripple.” Moreover, in describing different cases of stigmatization he often neglected to identify the specific causes of relevant

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stigma (Goffman 1963). Back in the 1960s, lack of such distinctions was not unusual. Today, however, Goffman’s text may sometimes sound stigmatizing and create an impression that it objectifies people with disabilities. The author bundled together sick people, people with disabilities and murderers—all as people facing a stigma. Goffman defined stigma—from the Greek word for a “sign”—as follows: “The Greeks (. . .) originated the term stigma to refer to bodily signs designed to expose something unusual and bad about the moral status of the signifier” (Goffman 1963, 1)—in other words, as marks left on the bodies of, for example, thieves, murderers, and other criminals and those at odds with the existing moral precepts. According to Goffman, stigma has kept its original meaning, even though nowadays it may refer to disregard or shame rather than to “bodily signs” themselves. A person subjected to stigma, Goffman claims, is not fully human, does not hold the same kind of rights, is subject to discrimination and exclusion.9 Lerita M. Coleman-Brown reiterates that stigma results from difference and otherness, agreeing with Goffman that “stigma is equivalent to an undesired differentness” (Coleman-Brown 2016, 149). Which differences are considered undesired may be decided by the dominant groups that hold power in a given society (Coleman-Brown 2016). Once again, we are referred to the “norm,” medicalization, and the medical model of disability, which may be considered dominant, and which wields the power required to normativize certain stigmas. The disability studies scholars have dubbed this phenomenon “ableism,” drawing from the meaning of “able” as is able-bodied (and as in, for example, sexism, ageism). It is a very important category, evidencing a set of practices that lead to discrimination, stigmatization and stereotyping of false views about people with disabilities. Ableism demonstrates that the world is constituted both by and for ablebodied people, and consequently marginalizes and excludes people with disabilities (Zdrodowska 2016). Stigmatization implies a downward movement within the social hierarchy. It provokes actions aimed to ensure inclusion of the stigmatized in the normative group, which may exacerbate inequality and stigmatization (Coleman-Brown 2016). This was well illustrated by the following statement by Błażej: The author: Do you consider yourself to be a person with disability? Błażej: Frankly speaking, if I were to decide in my case, it would be half and half, so to speak. The author: Why half and half? Błażej: Perhaps I should put it differently. I do not feel I differ from other people. Healthy people. I feel equal to any other human being.10

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Błażej’s response, apart from the fact that it links disability with stigma and the “downward movement in the social hierarchy,” also demonstrates that Błażej identifies disability with an illness: “I do not feel I differ from other people. Healthy people.” A person who is subjected to stigmatization may try to hide or get rid of the stigma, for example, by means of medical intervention that would “fix” the stigmatizing sign, or by learning to conceal the stigma through their behavior, as in Goffman’s example of a “lame” person who became an airplane pilot. Again, we see the medical model of disability at work here, with disability perceived as something that needs “fixing.” Research participants in this project, however, will not be able to “fix,” that is, to cure their disease, although they can reduce or conceal the associated stigma. Coleman-Brown noted another important thing, namely, that stigma, just like the norm I mentioned earlier, can serve to maintain social stratification. Stigmatization thus constitutes a cultural pattern that we learn by observing others and which we use to categorize the surrounding reality (Coleman-Brown 2016). In other words, stereotyping stigmas can also work, quite surreptitiously, among people with disabilities, shaping their own expectations and perceptions of reality. However, stigmatization is not the only reason why the research participants were unwilling to identify themselves with the category of the disabled. An equally important reason was a common, prevalent understanding of what disability is. I think the following quote from Błażej could illustrate that point, adding that although Błażej has been granted a disability certificate, he does not consider himself to be a person with disability. Błażej: Yes, that’s right, that’s probably it. And the main thing that excludes me. I am used to following a diet. The worst thing is fatigue, which excludes me from going [to work], from finding any job. From finding employment and working normally. The author: On the other hand, you also don’t consider it to be a disability. Błażej: I do not consider it to be a disability. I see the disabled in a different way. Disability as I see it is, I don’t know, a person on a wheelchair, using crutches, missing an arm or a leg.

In this sense, disability is not only a stigmatizing category in itself, but is still very much associated with Goffman’s “bodily signs,” that is, with visibility. A disabled person is one using a wheelchair or crutches. These two symbols— direct referents of disability—also emerged as “visible” signs of disability in my conversation with Kinga. Thus, even though Goffman’s Stigma may seem a bit outdated when seen against the background of the progress made

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by disability studies and efforts by activists with disabilities, in the context of common understanding of disability and its “visibility,” it still proves very relevant. The only participant in the group who considered herself to be a person with disability, provided more insight into how we define disability in the first place. DISABILITY AND IDENTITY—AM I DISABLED OR DO I HAVE DISABILITY? A common consequence of LCHADD is retinal damage leading to vision impairment and blindness (Fahnehjelm et al. 2016). Kinga: In my case, there is this problem, as in people with LCHADD in general, that our retinas deteriorate. Our eyesight deteriorates. We go blind, so to speak. Because we have this retina breaking down in different places. So, I do face this problem.

Vision impairment is the main limitation that Kinga, an adult with LCHADD, mentioned in our conversation. Like the rest of my interlocutors, she also did not perceive her special diet to be problematic and causing her exclusion. However, unlike other participants, Kinga did not reject disability. The author: Do you consider yourself to be a person with disability? Or, have you experienced periods in which you would identify as such a person? Kinga: In a way, yes. Now, for sure. My eyes. Well, they are now a fact. Let me rephrase that. I stopped using a wheelchair, I stopped using crutches, then maybe I walked in a way that was a bit peculiar, but no one could tell that I was actually sick. Because you couldn’t see it. And once I was already familiar with a specific area, well, it wasn’t visible at all. I knew the place. I could see where to watch out for a pothole. I could always say that I just tripped. . . . [S]ometimes, there was this period when [a pause, Kinga sighs] I would say that I wasn’t disabled because my sight had deteriorated, I didn’t treat it that way. But for a couple of years now I’ve just given up. I’m disabled and that’s it.

After she got rid of the “visible” signs of disability, that is, crutches and a wheelchair, Kinga was able to conceal her impairment. However, at some point concealing it has become too demanding. Kinga: So, [there are] limitations and certain situations that finally make you fully realize that you can’t be so stubborn and headstrong, because eventually

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you have to say, OK, I have this limitation, in some way, I am disabled. Well, just start to openly talk about it and ask for help if needed.

Blindness is an impairment leading to a “visible” kind of disability. It is associated with another symbol/referent—the white cane of a blind person. Kinga, despite having come to terms with being a person with disability, does not use a cane, even though she believes that it would have provided her with visible justification to use certain privileges, such as a seat for people with disabilities on public transport. Kinga: It would be helpful if I used a white cane, people would just leave me alone. But I won’t, I am not at that stage yet. Perhaps I am still too stubborn to . . . start learning Braille, and stuff like that.

Even though Kinga admits that it would have been easier for her to use a symbol denoting disability, when I asked her about the stigma and social exclusion, she told me: “It is more acceptable that you do not see and then you say that you don’t. There is a moment of surprise and then acceptance that it is true.” The author: Is it better that this disability is visible because you have a wheelchair or crutches? Or that it is invisible, but then people find out [about it] when you, let’s say, stumble on a road curb. Which situation is more difficult for you? Kinga: You know what, I think it is still the wheelchair. Because yes, people avoid bumping into a wheelchair, still, sometimes there is this attitude that someone in a wheelchair should learn to cope. (. . .) Unfortunately, in the society there is still this problem, but definitely not as big as it used to be. Because more people with disabilities come out now, and it is starting to become the same problem again, disability is not welcome. (. . .) And the pity—when I was in a wheelchair, I went out just twice, because I couldn’t stand the pity and it was driving me crazy. So, it also motivated me to switch to using a crutch. You can always say that you have broken your leg and that’s why you don’t walk, and that would be more acceptable than permanently using crutches or a wheelchair.

It seems that the best solution for Kinga is neither the full visibility of her disability nor its complete invisibility. Rather, it is a matter of combining the best aspects of both states—visible disability with no stigma attached. Such an opportunity is provided, according to Kinga, when she is using crutches, which she identifies with temporary handicap, such as a broken leg. We should note yet another important aspect that has emerged from interviews, taking us back to the distinction I made at the beginning of this chapter—is it a person with disability or a disabled person. None of the participants used the phrase “a person with disability,” which has been promoted

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by some activists based on the distinction between the so-called “people-first language” (a person with disability) vs. “identity-first language” (the disabled) (Dunn and Andrews 2015; see also Chowaniec-Rylke 2018; Nowosad 2021; Galasiński 2013). The “people-first” phrasing is supposed to shift the emphasis and remove the stigma faced by people with disabilities. It stems directly from reflections on the social model of disability and has been used to align the official and academic discourse related to disability and people with disabilities (guidelines published on the website of the Council for the Polish Language, n.d.; Bańko 2021). The identity-first phrasing has been used and promoted by some activists with disabilities to remove the stigma associated with the term “disabled” (Pl. “niepełnosprawny,” adj. and n.) to imbue it with political and cultural agency. Right now, both of these phrases are recommended, based on the preferences of our interlocutors (if these are unknown, the recommended option is to use the “people-first language,” that is, a person with disability) (Dunn and Andrews 2015). Research participants in this project may not have heard about such distinctions and tend to use the identity-first language. Moreover, it seems that they indeed perceive disability in identity-related terms. People are disabled—it is a category that defines them. Disability affirmation thus involves considerable “cost” and difficulty, especially since it also involves stigma. Hence Kinga’s motivation to conceal her own disability. The author: Was it [disability] something that you found hard to accept? Kinga: Yes, but quite frankly, it was most difficult for my parents. They saw that I suffered, but mostly, they were not aware that it was to such an extent.

Even though Kinga admitted that coming to terms with disability has always been a challenge, it was also important for her to make her family and loved ones accept her condition. She explained it as follows: “It seems to me that accepting it myself is less of an issue than getting the people around me to accept it. They seem to overlook it, on a daily basis, or perhaps they are just so familiar with certain things and do not notice them anymore . . . see this change happening so smoothly that the contrast between what used to be and what is becomes less clear. And with friends, it’s more apparent.” Since her visual impairment has slowly increased over time, Kinga’s family and friends were unaware of her actual condition and the fact that she had proceeded to gradually accept and affirm her disability. Kinga had to “prove” to them that she could no longer see. Sometimes she was assisted by her sister, and sometimes the distance and openness of her friends were sufficient. Kinga: And with friends, it’s more apparent, although I always laugh that Paulina [her friend] keeps saying “Kinga, you get in, you get in there, bump

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into something, hurt yourself, but it’s not a problem. You’ll always put yourself together or we will put you back together,” that is how she puts it—you may break something, fall over, but it does not matter. Now, she was redecorating her flat and “Wait, I have to show you around the place” and she took my arm and led me, I was staring at these shelves, such a cool structure. I can explore by touch, just get close and, you know . . . can do it. And I can make sure, because sometimes I have trouble with colours, just like recently I went “is this wall blue or grey” and she said: “What do you mean, it is a quite a light grey.” And to me it is more like blue in colour and not so light either. “You’re blind, so you don’t know” [she laughs].

Kinga may not use the people-first language, but acceptance shown by people around her, especially her loved ones, as well as the distance she displays toward herself, all seem to help her deal with the stigma associated with disability. CONCLUSION When I started my research, back in 2018, I did not expect that the issue of disability in rare congenital metabolic diseases would be so difficult to grasp and conceptualize. First of all, this was my first encounter with disability. I was surprised by the multiplicity of approaches, as well as the political and ethical entanglement present in disability studies. Another challenge I faced was related to the surprising and diverse approaches to disability among the research participants. To explore and understand the issues that are dubbed “disability” within the social model of disability, I had to talk about exclusion and everyday life led by research participants, including the ways in which their lives were different from everyday lives of people in good health. The most problematic issue, however, was how to explore and understand different connotations of the category of disability among people who mostly do not consider themselves disabled. In my view, the problem stems from the overlaps in two main semantic fields related to disability: • Disciplining and medical: involving disability that emerges as part of a consistently increasing medicalization. It is a discipline-inducing category, enforcing a social order that extends biomedical surveillance over people that do not fit the “norm.” In the past, such surveillance was supposed to lead to exclusion and concealment, while nowadays, to restitution and resocialization of people that are unable to perform social roles. This is the role played by disability ruling panels and activities such as “rehabilitation” (Zakrzewska-Manterys 2016).

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• Identity-oriented: it is impossible to detach disability from its identity-attributing meaning, both in its common understanding and in specialized academic discourse. This has tremendous consequences that affect the disability ruling procedures, the stigma associated with this category, and its political power. In Poland, we think of disability both as an identity and a bodily condition. In other words, we continue to think in terms of “the disabled” (identity-first) rather than “people with disabilities” (people-first). Disability is also viewed in this way by the adjudication panels. However, the group of people participating in this study tends not to identify with disability, and with few exceptions, such as Kinga, they do not use the identity-first referent of disability. The resulting meaning—a Foucauldian one, a medical one—involves being outside the norm and medicalization of such an exclusion. Even such meaning, however, is not fully compatible with the situation of research participants. The panels that are deeply immersed in the paradigm of medical disability model assess a child’s potential exclusion on the basis of the child’s mental and physical condition, that is, based on norms and growth grids. The research participants, however, satisfy such norms of mental, physical, and social fitness achieved at a certain age and do not display visible signs of disability. Moreover, panels often lack a specialist on rare diseases, and are usually completely unfamiliar with the particular disease in question, as well as with the related medical records that may not include information on the broader impact of the disease. In addition, the form of testing adopted by such panels often fails to grasp the specific character of the disease. All of these mean that the theme of social exclusion and the need for support is frequently overlooked, which contributes to further judicialization of disability. However, to fully understand the ephemeral nature and ambiguity of disability related to rare congenital metabolic diseases, we need to go a step further. We do know by now that two main referents of disability—identity and medical—are not at play here. What is left? How can we capture and describe this particular situation? For us anthropologists there are also visible social aspects, that is, the types of exclusion faced by parents due to increased requirement for parental care. Such exclusion, however, does not fit into the common understanding of disability. There is also an impairment, that is, the embodiment and the condition of the sick person, the disease itself and its characteristics. For a long time, I assumed that the categories of concealed/invisible disability can prove rather helpful here. However, I am now rather inclined to think that the opposite is true—they are categories that obscure, more like “traps.” Standard examples of concealed disability involve the situation of an invisible bodily condition, such as chronic pain, that excludes a person from certain social activities

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(Racław and Szawarska 2018). In terms of the diseases under study here, we have an invisible bodily condition, which in most cases does not exclude a child or an adult to such an extent as to make them or their caregivers admit that they have a disability. Of course, this may be related to the burden involved in disability as a category and the associated stigma. The only case in which the use of such theory may be helpful and relevant is Kinga’s story. Therefore, it seems more important to me to ask why my respondents do not use the category of disability, that is, to ask what disability means to them and how they perceive the associated stigma. I also do not find the category of episodic disability to be particularly useful (Chowaniec-Rylke 2019a). Our respondents do not seek rulings due to the periodic exacerbations of their disease, the decompensation episodes. Rather, their situation should be viewed as involving constant potential danger and potential exclusion, due to the danger of such decompensation. This potential risk is being mitigated and managed by appropriate care practices. In other words, rare metabolic disease patients, for their impairments not to become apparent, and thus for their disability not to become apparent either, require intensified care and support. As I demonstrated earlier, according to the prevalent understanding of disability, it is synonymous with impairment, preferably visible impairment. What is often forgotten, however, is that disability may sometimes involve not specific impairments, but need for specific support and assistance. With all this in mind, the respondents’ situation can be described as follows: 1.  Their physical condition (disease) triggers the potential of poor health and death—such potential may be revealed through noncompliance with strict dietary requirements and made visible, for example, during metabolic decompensation. 2.  Impairment creates the need to mitigate the potential risk—through dietary discipline and intensified care practices, which may result in the aforementioned exclusions affecting both parents and the patient. 3.  Mitigation of potential risk also requires systemic support, that is, medical care and a disability ruling that enable people to access specific benefits. Unfortunately, such support sometimes fails to be granted, which creates the need for judicialization of disability. Let us return to the question I asked at the beginning of this chapter— whether disability is indeed a category that proves useful in social research on rare diseases. It is a difficult question. In the world of the research participants, disability functions mainly in the context of disability ruling panels, disability certificates and judicialization. By asking about it, we may learn something about important social aspects of living with a disease and caring

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for people that live with it. We may also notice a gap, an omission, which prompts us to ask further questions about the apparent reluctance to identify with this category. These questions, in turn, may lead us to reflections on stigma and the understanding of disability. If we wish to learn more about the issues and peculiarities of living with such diseases and caring for such patients, it may be better to ask other questions, for example, to follow critical disability studies in their focus on exclusions. Is thus disability a useful category for rare disease research? The answer is yes, and no. No, because by asking about disability we may not learn much about the world of living with a particular disease and the disease itself. Yes, because it gives us insight into how disability is perceived. This text does not exhaust the topic of disability involved in rare congenital metabolic diseases. It constitutes an attempt to outline and engage in in-depth reflection on this complex issue. Disability is itself a very complex and multilayered category, made operational in different ways depending on the context: medical, identity-related, and academic. Furthermore, it is a very fluid category that also involves stigma, which both creates a certain burden and may provide access to various privileges. Most commonly, it is still construed in medical terms, seen in identity-related terms, resulting in a strong tendency for stereotyping. Therefore, most research participants involved in this study demonstrated reluctance to identify with this category, even though the account provided by Kinga also revealed the conditions that need to be satisfied to make identifying with disability worthwhile. It is thus clear that in Poland, there is still need for further education and activism to counter the stigma associated with disability. REFERENCES Aureliano, Waleska, and Sahra Gibbon. 2020. “Judicialisation and the Politics of Rare Disease in Brazil: Rethinking Activism and Inequalities.” In Critical Medical Anthropology, edited by Jennie Gamelin, Sahra Gibbon, Paola Sesia, and Lina Berrio, 248–64. London: UCL Press. Bańko, Mirosław. 2021. “Rekomendacje Językowe Dotyczące Języka Niedyskryminującego Na Uniwersytecie Warszawskim.” Wydawnictwa Uniwersytetu Warszawskiego. https:​//​rownowazni​.uw​.edu​.pl​/wp​-content​/uploads​/ sites​/105​/2022​/07​/Rekomendacje​-jezykowe​-2021​.pdf. Bańko, Mirosław, Jadwiga Linde-Usiekniewicz, and Marek Łaziński. n.d. “Rekomendacje dotyczące języka niedyskryminującego na UW—Rownoważni.” Accessed October 27, 2022. http:​//​rownowazni​.uw​.edu​.pl​/wp​-content​/uploads​ /2021​/12​/Rekomendacje​-j​%C4​%99zykowe​-2021​.pdf. Biehl, João. 2009. “Judicialisation of the Right to Health in Brazil.” The Lancet 373 (9682): 2182–84.

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Przegląd Socjologii Jakościowej 14 (3): 30–46. https:​//​doi​.org​/10​.18778​/1733– 8069​.14​.3​.03. Rędziak, Beata. n.d. “Komu zasiłek, komu świadczenie? Wyjaśniamy, co, dla kogo i w jakiej kwocie.” Accessed June 2, 2022. http:​//​www​.niepelnosprawni​.pl​/ledge​/x​ /182264. Shakespeare, Tom. 2010. “The Social Model of Disability.” The Disability Studies Reader, January, 266–73. ———. 2017. Disability: The Basics. 1st ed. Abingdon, Oxon; New York, NY: Routledge, 2018. https:​//​doi​.org​/10​.4324​/9781315624839. Smakowski, Tomasz. n.d. “Niesłyszący czyli głusi czy Głusi? Co Ty wiesz o głuchych? #2.” Świat Głuchych. Accessed June 20, 2022. https:​//​swiatgluchych​.pl​ /video​/nieslyszacy​-czyli​-glusi​-czy​-glusi​-z​-duzej​-litery​-g​/. Strzelecka, Agnieszka. n.d. “Świadczenie pielęgnacyjne—Ministerstwo Rodziny i Polityki Społecznej—Portal Gov.pl.” Ministerstwo Rodziny i Polityki Społecznej. Accessed June 2, 2022. https:​//​www​.gov​.pl​/web​/rodzina​/wiadczenie​-pielegnacyjne. Świątkiewicz-Mośny, Maria. 2010. Tożsamość napiętnowana: socjologiczne studium mechanizmów stygmatyzacji i autostygmatyzacji na przykładzie kobiet z zespołem Turnera. Kraków: Zakład Wydawniczy “NOMOS.” Vehmas, Simo, and Nick Watson. 2014. “Moral Wrongs, Disadvantages, and Disability: A Critique of Critical Disability Studies.” Disability & Society 29 (4): 638–50. https:​//​doi​.org​/10​.1080​/09687599​.2013​.831751. Vigarello, Georges. 1997. Historia zdrowia i choroby: od średniowiecza do współczesności. Translated by Małgorzata Szymańska. Warszawa: “Volumen”: Niezależna Oficyna Wydawnicza. Zakrzewska-Manterys, Elżbieta. 2016. “Ludzie Różnią Się Między Sobą w Piękny Sposób. Historia Społeczna Upośledzenia Umysłowego.” In Zrozum Mnie i Szanuj: Refleksje Wokół Niepełnosprawności Intelektualnej, edited by Aleksandra Fandrejewska and Jolanta Koral, 19–41. Bardziej Kochani, nr spec. Warszawa: Stowarzyszenie Rodzin i Opiekunów Osób z Zespołem Downa “Bardziej Kochani.” Zdrodowska, Magdalena. 2016. “Między aktywizmem a akademią. Studia nad niepełnosprawnością.” Teksty Drugie 5: 384–403. https:​//​doi​.org​/10​.18318​/td​.2016​ .5​.25. Zola, Irving Kenneth. 1972. “Medicine as an Institution of Social Control.” The Sociological Review 20 (4): 487–504. https:​//​doi​.org​/10​.1111​/j​.1467–954X​.1972​ .tb00220​.x.

NOTES 1. All research participants’ names have been changed. Due to the very small number of adult patients, providing the exact disease diagnosis could enable patient’s identification, hence my decision not to provide details of their specific conditions.

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2. In line with recommendations for academic and official discourse available in some countries, including Poland, although in Poland not all involved researchers and communities share the same position. 3. The project An Anthropology of Rare Diseases of the Baltic Sea Region was carried out at the Institute of Philosophy and Sociology of the Polish Academy of Sciences in 2018–2023. The project was funded by the National Science Centre in Poland. Grant number 2017/26/E/HS3/00291.The Principal Investigator: Professor Małgorzata Rajtar. 4. It is advisable to use the phrase “person with disability” if we do not know the preferred form of our interlocutor (Bańko, Linde-Usiekniewicz, and Łaziński n.d.). 5. One of the key parameters used to assess the patient’s condition during metabolic decompensation episodes is measuring creatinine kinase levels. The norm for women is 24–195 IU/l. 6. Allowance amount as of 2022. Minimum monthly salary in Poland in 2022 was 3010 Polish zloty. 7. Problems with access to benefits are also highlighted by the Helsinki Foundation for Human Rights, which in 2022 launched a project on equal treatment for people with disabilities (for more details visit: https:​//​wydarzenia​.ngo​.pl​ /398556​-helsinska​-fundacja​-praw​-czlowieka​-rozpoczyna​-projekt​-rowne​-prawa​-osob​ -z​-niepelnosprawnosciami​.html). 8. Social Insurance Institution (ZUS) is the state institution in charge of social insurance in Poland. In the context of disability rulings’ procedure, official bodies that report to ZUS determine whether the disability certificate should be granted, to whom and for how long. 9. At this point I wish to mention the book Tożsamość Napiętnowana by Maria Świątkiewicz-Mośny, in which the author explores the stigma related to another rare congenital disease, Turner syndrome (Świątkiewicz-Mośny 2010). 10. It is noteworthy that the United Nations resolution (January 5, 2022) on rare diseases points out the need to ensure respect for human rights and equality of rare disease patients (“Addressing the challenges of persons living with a rare disease and their families” n.d.).

Conclusion Rare Diseases and Cultures of Caring Aaro Tupasela

INTRODUCTION The study of rare diseases has occupied a unique place within the social scientific and anthropological research arenas for several decades. Besides their relevance to the broader field of disability studies (Ferguson and Nusbaum 2012) and patient advocacy (Novas 2006), the study of rare diseases has drawn from and contributed to a broad range of research fields, which is testament to their social and cultural significance in today’s society. As a trans-disciplinary field, the study of rare diseases has helped identify new ways of understanding and approaching how we come to live and cope with diseases by exploring issues of materialism, global human rights and equality, practices of care, as well as forms of lay expertise to name a few (Goodley 2013). ‌‌The collection of texts in this edited volume speaks to the increased interest and care that researchers are paying to understand the dynamics of rare diseases and their everyday practices. Within the field of science and technology studies (STS) the study of care has had an important impact on the way practices around treatment have come to be understood (Latimer 2000). More recent studies have explored the relationships between policy and care (Gill et al. 2017), noting how policy is a set of practices with important consequences for how care may be delivered or facilitated in specific contexts. In this sense, the study of care practices within the Baltic Sea region provides a unique opportunity to explore similarities and differences that exist in a relatively small geographical area. It also provides the possibility for critical dialogue with many of the normative assumptions surrounding equality and access. 195

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With a special focus on care as a practice that involves multiple actors including material objects, these chapters point towards a deeper and more nuanced understanding related to the practices of care and concern. In this sense, attention to the lived and experienced lives of living with rare disease touches upon numerous related fields. These include rare diseases as a pharmaceutical concern related to orphan drugs (Denis et al. 2010; Hughes et al. 2005), rare diseases as a medical interest (identifying disease causing genes), rare diseases as an economic concern (Angelis et al. 2015), as well as the governance of rare diseases through social and welfare bureaucracies (Grut and Kvam 2012). One would be remiss if the role of feminist research was overlooked in the development of disability studies (Hall 2015). Feminist disability studies have provided a significant critical perspective to the study of care practices, which has extended beyond the traditional and stereotypical understanding of care as a dichotomy between men and women. Feminist disability studies extend their scope of critical observation to more fundamental questions regarding power, rights, and exclusions (Garland-Thomson 2005). Given the diversity of this field in terms of possible research approaches, the study of rare diseases from a social scientific and anthropological perspectives highlights the need to bring forth new ways of understanding how people experience and live with chronic illness and conditions. Wahlberg (2018) has noted how research on diseases has spanned a broad spectrum of empirical research sites, including laboratories, clinics, and patient organizations. He postulates in his work that medical interventions are not just about saving and prolonging life, but increasingly it is concerned about improving the quality of life. This perspective suggests that living with disease has become what he calls “morbid living,” where individuals and their families learn and are taught to live with their conditions. In this sense, dealing with the everyday practices of managing rare diseases has become a form of discipline, which aims at the improvement of the quality of life. Morbid living is not, however, a singular category, but rather takes on different forms and practices in different national and regional contexts. Differences in national policies, legislating, practices, resources, as well as historical context all play a part in the way individuals and families experience and come to live with different rare conditions. To patients and family members this means that having a similar condition in a different country may result in vastly different life experiences and perspectives on what it means for everyday life. The starting point of this volume is to explore the notion of entanglements in the context or rare diseases in the Baltic Sea region. An entanglement can have multiple meanings and connotations. In one sense, it directs our attention to specific types of relations between actors, which entail intricacy and complexity, as well as specific types of intimacy and interdependence. An

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entanglement is also as an obstacle that hinders or prevents particular types of movement or relations from emerging or existing in the first place. Within this context, entanglements within rare diseases can take on multiple meanings. In the following, I will briefly discuss the relevance of such recent perspectives on the broader field of rare disease studies to highlight some possible new opening and perspectives, which can help us understand what living with disease may entail. RARE DISEASES AT THE MARGINS Taking as a starting point the study of rare diseases in Finland, one needs to note that the changes that have taken place during the past half century reflect a strong increase in the social and cultural fabric of how patients and their families experience rare disease. In Finland, the study of rare diseases among paediatricians began to take off in earnest during the late 1960s and early 1970s (Norio 2003; Tupasela 2016). During this period, the resources and support that were available to families were very limited and information was often difficult to find. Indeed, any medical information on new types of conditions did not even exist. As such, the social networks and relations, which existed between families and medical experts, were quite limited. Although medical care and research often provided life-saving treatments and care practices, families lacked access to necessary resources. Similarly, the resources and information that physicians and researchers had access to required substantial amounts of time to identify. Within the Finnish context, the interest that the medical community had towards rare diseases played an important role in the development of the field in general. Supporting the patients and families affected by the various conditions ultimately led to a rather unique research field, which resulted in the term Finnish disease heritage (FDH) to be developed (Norio 2000; Perheentupa 1995). FDH is a group of hereditary monogenic disorders, usually caused by an autosomal-recessive mutation that are over-represented in the Finnish population. These variations have become enriched in the population due to several past genetic drift events (Norio 2003; Norio et al. 1973). Since the late 1960, Finnish researchers have identified over thirty conditions which meet the criteria of FDH. Today, thanks to the efforts of pediatricians and genetic councilors in Finland, the cases of FDH patients has begun to decrease. Since awareness of hereditary conditions and family planning has become more prevalent, the cases of FDH have been steadily decreasing over the years (Kääriäinen and Varilo 2019). Of course, this has not prevented new, de novo, cases from emerging. The structures and systems that have been put in place to treat FDH

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cases, however, have made it easier for new patients and families to receive diagnosis, treatment, and care. This can be seen, for example, in the founding of the Norio – Centre for Rare Diseases in 2013, which provides support and information for individuals and families that are affected by rare conditions. The coupling of research and care has played an important role in Finland in terms of the resources that are available to families and patients. The study of rare diseases was also of marginal interest to large pharmaceutical companies who were not interested in investing in research for conditions, whose potential customer base was so limited. Pharmaceutical companies are driven by a profit incentive. This incentive was completely lacking in the case of rare diseases due to the small numbers of patients. It is not until 1982, that the United States, for example, passed the Orphan Drug Act, which provided increased incentives for pharmaceutical companies to begin investing in developing pharmaceuticals and treatments for rare conditions (Mikami 2019). The EU, however, did not introduce similar legislation until 1999 when it passed the EU Orphan Drug Program (Haffner 2016). Despite this delay in passing official legislation, the comparison between the United States and many European countries is also fraught with difficulties due to the differences in the way healthcare is organized. In many of the European countries, such as the Nordic countries, healthcare services are public and as such, access the care and treatment (and research) is far easier than it may be in the United States. Such differences play an important role in the fabric of how care and care practices emerge within different national contexts. Many of the chapters in this volume highlight such differences and the important impact that they have on the ways in which patients and their families receive care and experience living with rare conditions. Around the turn of the millennium, as internet technologies begin to proliferate, there also emerges new forms of living and experiencing disease. With the significant research efforts and investments that were being placed in the study of genetics and the mapping of the human genome, new types of conceptualization begin to emerge with regard to the body. Concepts such as “biological citizenship” (Rose and Novas 2005) begin to emerge to highlight how identity and relations are increasingly mediated through the biological and heredity (see also Rabinow 2002). Advances in sequencing and the sharing of data enable a far quicker method of identifying relevant information on patients from around the world. In a relatively short period, the study of rare diseases becomes increasingly quicker thanks to data sharing and practices of samples and data collection, which are facilitated by biobanking, for example. Both researchers and patients are able to find more and more similar patients and families with whom to share their experiences, and more importantly data to facilitate research and treatment.

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New constellations of actors and social relations also begin to emerge. As Novas (2006) has noted, patient activism in rare diseases begins to take on more active roles where patients and their families are not just passive research subject, but rather active actors who organize and facilitate research itself. Characterizing this new form of activism as a political economy of hope Novas (2016) suggests that in addition to being activists, patients and patient groups become increasingly knowledgeable about the science of their conditions and increasingly begin to sponsor and organize research activities themselves. This new role helps, according to Novas, generate new forms of biovalue related to rare diseases and the materialities (blood and tissue), which surround specific conditions (see also Rabeharisoa 2006; 2003). With all rare conditions, genetics has come to play a significant role in not just diagnosis, but also treatment. Genetics has taken an increasingly important role not just in screening programs of newborns in many countries, but it has also become the medium through which rare conditions are more generally understood and approached. In some cases, genetics and the high-tech medicine that has come to surround it also provides a hope of a treatment and even a cure through approaches, such as clinical gene editing. Many of the chapters within this volume also speak of new ways of conceptualizing living with rare conditions, such as through managing eating habits and practices. What is important to note, however, are the disparities, which also emerge around different rare conditions. Not only are there disparities in terms of access to support and resources between different rare conditions themselves, but more importantly there are differences in how care and treatment is provided in regard to a single condition, but in different locations. The healthcare systems between different countries within the Baltic Sea region, for example, highlights this issue. In terms of equal rights to access to healthcare, the chapters in this volume point to the many differences, which exist between countries. These differences include, social, economic, and cultural differences, which may be afforded patients and families in any given region. These issues are of central interest in terms of rights and forms of exclusion that patients and family members may experience. In the following, I will discuss the significance of the chapters presented in this edited volume in light of the social and cultural changes surrounding rare diseases and their treatment. ENTANGLEMENTS IN RARE DISEASES The chapters approach entanglements in rare diseases from a number of different, yet thematically interrelated approaches. An important theme that the authors cover is the notion of expertise and how it develops and evolves

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among patients and caregivers. In chapter 1, for example, Anna Chowaniec highlights the way mothers must become expert caregivers and managers of their children. This expertise is not just limited to the actual act of caring for the children, but also extends to areas of dealing with the healthcare and social services as well. This expertise is highly gendered within the Polish context whereby the responsibility of care and management is expected to be taken care by the mothers. Chowaniec aptly points out how resilience plays an important part in practices of care in Poland. At the same time, the gendered roles and challenges associated with dealing with public authorities point toward some of the disparities that families face depending on what country they reside in. In this sense, the notion of morbid living takes on very different social and cultural meanings depending on one’s location. In his study of inherited metabolic diseases (IMDs), Filip Rogalski explores the practices surrounding constant monitoring from a comparative perspective between Poland and Sweden. His work identifies how despite similar guidelines and models of care between the two countries, there nonetheless exist a significant difference in the way responsibility and autonomy are enacted in the two countries. The Polish approach highlights a more traditional form of medical paternalism, whereas Swedish practitioners seek to support a more individualistic approach by highlighting parental responsibility in the care practices of patients with IMD. In terms of entanglements, the study of practices surrounding food and nutrition play an important role in this volume. In both the previous chapters, as well as the chapter by Katarzyna Król and Ewa Ehmke vel Emczyńska-Seliga, the attention and interest in practices surrounding the everyday practice of dietary requirements that different rare conditions place on patients and their caregivers. The authors explore the role of cooking workshops and the way they serve as spaces of knowledge production and the sharing of expertise between different actors. In their perspective, knowledge about appropriate and correct nutrition practices is comparable to treating conditions with medicine. The chapter also highlights the important entanglements between dieticians and caregivers in creating heterogeneous knowledge landscapes on food preparation. As discussed in the introduction, entanglements are not only composed of human actors, but also include material practices, which include various devices. Małgorzata Rajtar discusses the role of the gastronomy feeding tube, which is used in over 400 medical conditions to deliver the necessary nutrients to patients. Like Rogalski, Rajtar’s approach is comparative as she looks at these practices in Poland and Finland noting how practices in Finland are seen as routine and normal for children with rare metabolic diseases. In Poland, however, the use of the gastronomy feeding tube is considered experimental. The chapter points our attention to how even basic practices

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surrounding the sustaining of life can be seen very differently from one national context to another. If food and feeding are seen as a basic premise for sustaining life, then the promise of a cure becomes a central element in the chapter by Karoliina Snell, Roosa Harmo and Kirmo Wartiovaara. The promise of a cure for rare monogenic diseases using the help of CRISPR-Cas9 gene editing technology provides just such a hope of a cure. Questions of time, uncertainty, and current life situation play important roles in the way individuals relate to the promise of new technologies. Despite the promise of cure, participants in the study also maintained reserved attitude toward new technologies noting how many of them did not see a necessity to make any decisions in the near future regarding treatments. As many of the chapters in this volume speak to the differences between countries in terms of access and approaches to treating and managing rare diseases, Małgorzata Skweres-Kuchta looks at the role of health emigration in patients and families seeking better access to treatment. Using the case of Batten disease type 2 (CLN2), Skweres-Kuchta notes how the lack of access to specific orphan drugs often compels families to move to another country where reimbursement for specific drugs is available. The socioeconomic considerations that families need to contend with just to gain access to affordable medication brings forth yet again some of the significant disparities, which exist in Europe between countries and healthcare systems. The final chapter by Jan Frydrych examines the significance of the category of disability in relation to disability rulings. In seeking to gain access to social services and small disability allowances families are often faced with adjudication panels who often lack expertise and knowledge on specific rare conditions. Frydrych discusses the challenges associated with what he calls the “judicialization of disability” to show how the practices of patients and lawyers affect disability rulings. The need to “prove” disability to access necessary resources highlights the challenges that many families face in dealing and engaging with bureaucracies, whose logics may be different from one context to another (local and national). As a whole, the chapters in this volume draw attention to the often-tenuous relations between different actors who are involved in managing and caring for individuals with rare conditions. Notions of vulnerability and resilience often emerge as underlying themes throughout the chapters as factors, which emerge and are necessary in terms of coping and managing rare conditions.

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CULTURES OF CARING The examples and case studies that are brought forth in this volume provide important insights into the multiplicity of practices surrounding rare diseases in the Baltic Sea region. The study of multiplicities has played an important role in social scientific and anthropological studies of disease and disabilities (Mol 2002). What these chapters provide, however, is an increasing breadth and scope to understanding the practices and cultures of care within the Baltic Sea region. If we look at the development of practices of care and treatment surrounding rare diseases, the introduction of legislation in regions such as the United States and EU have provided an important catalyst for investment and interest in the topic. Similarly, the increased activism of patient organizations during the beginning of the millennium has also served as an important turning point where new activities and interests begin to emerge around rare diseases. The increase in the level of knowledge and expertise among patients and family members has been improved by easier access to information over the internet, better networking and increased activism among stakeholders. Patient organizations are grouping together to form umbrella organizations which help to represent larger and larger groups of different organizations and provide support to a heterogeneous group of people with similar needs. The chapters in this book provide another important perspective within the field of caring that open new possibilities for action and understanding how patients and families manage and cope with rare diseases. If morbid living provides a new way of conceptually understanding living with rare diseases, then entanglements and cultures of care help us understand the variation that exists in the living conditions and resources that are made available to individuals and families in different contexts. In this sense, these chapters also contribute to feminist approaches related to disability, namely attention to questions of power, rights and exclusions. Many of the chapters explore the significance of culture, particularly food, in relation to living with rare diseases, which further accentuates to role and significance of everyday practices of care. If we are to take seriously European actions to reduce differences in health inequality between member states (see https:​//​eurohealthnet​.eu​/, https:​ //​jahee​.iss​.it​/), then understanding and paying attention to the determinants of differences surrounding care practices is of crucial importance. Understanding entanglements as forms of barriers to achieving a better quality of life also helps to provide important markers for possible future development and policy changes that need to be attended to. Patients and families who are affected by rare conditions are vulnerable in many ways. There may be a lack of available treatments or care practices. There may also be bureaucratic or legal obstacles that prevent access to treatments and

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services to help manage and cope with a condition. Finally, patients and family members may also suffer from social stigma surrounding their disability that limits their possibilities of social integration into everyday life. The examination of how entanglements of care practices play an integral part of living with rare conditions highlights the many new possibilities which open up for further research. REFERENCES Angelis, Aris, David Tordrup, and Panos Kanavos. 2015. “Socio-Economic Burden of Rare Diseases: A Systematic Review of Cost of Illness Evidence.” Health Policy 119 (7): 964–79. Denis, Alain, Lut Mergaert, Christel Fostier, Irina Cleemput, and Steven Simoens. 2010. “Issues Surrounding Orphan Disease and Orphan Drug Policies in Europe.” Applied Health Economics and Health Policy 8: 343–50. Ferguson, Philip M., and Emily Nusbaum. 2012. “Disability Studies: What Is It and What Difference Does It Make?” Research and Practice for Persons with Severe Disabilities 37 (2): 70–80. Garland-Thomson, Rosemarie. 2005. “Feminist Disability Studies.” Signs: Journal of Women in Culture and Society 30 (2): 1557–87. Gill, Natalie, Vicky Singleton, and Claire Waterton. 2017. “The Politics of Policy Practices.” The Sociological Review 65 (2_suppl): 3–19. Goodley, Dan. 2013. “Dis/entangling Critical Disability Studies.” Disability & Society 28 (5): 631–44. Grut, Lisbet, and Marit H. Kvam. 2013. “Facing Ignorance: People with Rare Disorders and Their Experiences with Public Health and Welfare Services.” Scandinavian Journal of Disability Research 15 (1): 20–32. Haffner, Mark E. 2016. “History of Orphan Drug Regulation—United States and Beyond.” Clinical Pharmacology & Therapeutics 100 (4): 342–43. Hall, Kim Q. 2015. “New Conversations in Feminist Disability Studies: Feminism, Philosophy, and Borders.” Hypatia 30 (1): 1–12. Hughes, David A., Bronwyn Tunnage, and Seow T. Yeo. 2005. “Drugs for Exceptionally Rare Diseases: Do They Deserve Special Status for Funding?” QJM: An International Journal of Medicine 98 (11): 829–36. Huyard, Caroline. 2009. “How Did Uncommon Disorders Become ‘Rare Diseases’? History of a Boundary Object.” Sociology of Health & Illness 31 (4): 463–77. Kääriäinen, Helena, and Teppo Varilo. 2019. “Onko suomalainen tautiperintö muuttumassa?” Lääkärilehti 14: 874–78. Latimer, Joanna E. 2000. The Conduct of Care: Understanding Nursing Practice. New Jersey: Wiley. Mikami, Koichi. 2019. “Orphans in the Market: The History of Orphan Drug Policy.” Social History of Medicine 32 (3): 609–30.

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Mol, Annemarie. 2002. The Body Multiple: Ontology in Medical Practice. Durham: Duke University Press. Norio, Reijo. 2003. “Finnish Disease Heritage I.” Human Genetics 112: 441–56. ———. 2000. Suomi-neidon geenit: Tautiperinnön takana juurillemme johtamassa. Helsinki: Otava. Norio, Reijo, Harri R. Nevanlinna, and Jaakko Perheentupa. 1973. “Hereditary Diseases in Finland; Rare Flora in Rare Soul.” Annals of Clinical Research 5 (3): 109–41. Novas, Carlos. 2006. “The Political Economy of Hope: Patients’ Organizations, Science and Biovalue.” BioSocieties 1 (3): 289–305. Perheentupa, Jaakko. 1995. “The Finnish Disease Heritage: A Personal Look.” Acta Pædiatrica 84 (10): 1094–99. Pols, Anna J. 2004. Good Care. Enacting a Complex Ideal in Long-term Psychiatry. PhD thesis, Trimbos Instituut, Utrecht. Rabeharisoa, Vololona. 2006. “From Representation to Mediation: The Shaping of Collective Mobilization on Muscular Dystrophy in France.” Social Science & Medicine 62 (3): 564–76. ———. 2003. “The Struggle Against Neuromuscular Diseases in France and the Emergence of the ‘Partnership Model’ of Patient Organisation.” Social Science & Medicine 57 (11): 2127–36. Rabinow, Paul. 2002. French DNA: Trouble in Purgatory. Chicago: University of Chicago Press. Tupasela, Aaro. 2016. “Genetic Romanticism—Constructing the Corpus in Finnish Folklore and Rare Diseases.” Configurations 24 (2): 121–43. Wahlberg, Ayo. 2018. “The Vitality of Disease.” In The Palgrave Handbook of Biology and Society, edited by M. Meloni, J. Cromby, D. Fitzgerald, and S. Lloyd. 727–48. London: Palgrave Macmillan.

Index

ableism, 181 activism, 104, 189, 199, 202 affective economies, 2 agency, 28, 59, 90, 172, 185 Akrich, Madeleine, 3, 48, 60, 90, 104 anticipation, 116, 124 autonomy, 48, 57; parental, 9, 47, 59–60 Barad, Karen, 4 Batten disease, 11, 20n11, 132, 137–38, 141, 201, 208 Biehl, João, 12, 179–80 biopower, 171 biosociality, 3, 9, 53, 58, 62, 69, 77, 82, 93 Buck, Pearl S., 7

nourishing, 70, 81–82; routines, 52, 61, 122 chronic: diseases, 5, 8, 23, 31, 48, 51, 70; homework, 10, 23, 29, 37, 70, 81–82; living, 5, 48, 68, 76 CLN2 disease. See Batten disease comparison, 6–7, 58, 91, 126 commensality, 58, 79, 80, 82 COVID-19 pandemic, 2, 29, 35, 64n3, 67, 71, 76, 78, 88n16, 93, 155–56 CRISPR-Cas9. See gene editing culinary workshops, 9, 53, 67, 69–71, 76–77, 79, 82, 86n7, 200 cure, 10, 48, 73, 115, 121, 127, 201 cyborg, 91–92

care, 23, 36, 51, 61, 69–70, 102, 196, 202; cross border, 11, 156, 164n2, 165n26; dietary, 28, 52, 169, 200; inequality of, 114, 140, 199, 202; interrelationality of, 47, 52, 54, 57; kinship, 4, 24, 31, 35, 48, 54, 57–58, 100, 142, 148, 151, 157;

data, 198; small population, 19n8, 111n12, 114, 118 Davis, Lennard, 170–71 diagnosis, 5, 23, 27–28, 32–33, 58, 67, 71, 74, 96, 116–17, 122, 134–35, 142–43 disability, 12, 54, 65n7, 116, 146–47, 167, 180, 88; adjudication panel, 176–78, 187; category, 170, 172, 189; 205

206

Index

disability certificate, 35–36, 168, 176, 179; episodic, 173, 188; exclusions, 174–76, 187; (in)visible, 173, 183–84; medicalization of, 172, 186; model of, 172, 182, 185 discrimination, 27–28, 114, 117, 139, 156, 172, 181 disruption, 23, 117, 126 entanglement, 4–5, 196–97, 199, 202 enteral nutrition, 95 Epstein, Steven, 48, 90, 103, 140 European Reference Network for Hereditary Metabolic Disorders, 68, 87n9, 154, 165n22 EURORDIS, 3, 132, 136, 144 expertise, 157, 199–200; experiental, 60, 70, 80, 88n15; embodied, 76 experts, lay, 33, 90, 93, 104–5 family, 5, 8, 23–24, 29, 31–33, 57, 122, 127 FDH. See Finnish Disease Heritage feeding tube, 50, 89, 94–95; as alien object, 101; gastrostomy, 50, 60–61, 65n4, 80, 90, 95–96, 99–100, 200; nasogastric, 72, 96, 98, 100 Finnish Disease Heritage, 6, 118, 197 foods for special medical purposes, 9, 20n10, 53, 68, 73, 75, 79, 87n10 FSMP. See foods for special medical purposes future, 10, 69, 93, 104, 113–17, 122–27 gene editing, 10, 113, 120–21, 123, 126, 199, 201 genetics, 103, 199 Goffman, Erving, 180–82 good doctor, characteristics of, 55

health emigration, 11, 132–33, 140–41, 151, 156–57, 201 hygienic vigilance, 65n11 IMD. See inborn metabolic disease impairment, 115, 124, 172, 184, 188 inborn metabolic disease, 19n9, 27, 47, 49–50, 56, 68–69, 72, 94, 168–69; management, 24, 50, 75, 94; metabolic chronicity, 51, 53; metabolic decompensation, 49, 56, 59, 74, 94, 188; treatment, 50 judicialization, of health, 12, 65n8, 167, 178–80; of disability, 12, 180, 187, 201 knowledge: experiential, 69–70, 79, 82, 90, 93; production, 104 Koenig, Barbara, 10, 91–92, 97, 99, 105 Mattingly, Cheryl, 10, 29–30, 70, 81–82, 116 MetabERN. See European Reference Network for Hereditary Metabolic Disorders Mol, Annemarie, 68, 70, 81, 202 motherhood, 28, 34–35; matriarchal management, 28–30, 33–36 NBS. See newborn screening newborn screening, 7–8, 22, 27, 47, 50, 68, 87n8, 94, 96, 133, 135, 143–44, 157, 175, 199 norm, 99, 171, 181, 186–87 normal life, 60, 80–82 Novas, Carlos, 27, 195, 199 orphan drug, 11, 141, 154, 156, 198, 201 Oudshoorn, Nelly, 90–92, 101–2, 105

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parenthood, 62, 102 Parsons, Talcott, 115, 172 patient, 48, 115–16 PEG. See feeding tube phenylketonuria, 7–8, 67; medical history of, 21–22 PKU. See phenylketonuria Pols, Jeannette, 60, 91, 95, 101 potentiality, 114–15, 188

and trust, 59; parental, 47, 58–59, 60–62 risk, 31, 50, 59–61, 72, 114, 123– 24, 126, 188

quality of life, 53, 61, 98, 105, 124, 196, 202

tandem mass spectrometry, 7–8, 27 technological imperative, 10, 91–92, 97 technology, medical, 90, 103; domestication of, 104; ethics, 114, 125–26; normalization of, 115; standardization of, 91, 97–98; users, 92, 100; vulnerability of, 92, 101–2 temporality, 10, 115–16, 121, 126–27 Trnka, Susanna, 8–9, 48, 57, 60 trust, 33, 37, 59, 76, 98, 102, 111n14

Rabeharisoa, Vololona, 48, 90, 104, 135, 199 Rabinow, Paul, 3, 9, 48, 57, 69, 77, 93 rare disease: and anthropology, 3–4, 27; as boundary object, 4; characteristics of, 1, 5, 119; definition, 1, 25–26; diagnostic odyssey, 116; leveraging, 5; national program, 114; Rare Disease Day, 1, 75, 93; study of, 195, 197 Rare Disease International, 3, 19n5, 25, 44n4, 75, 93, 110n8 resilience, 23, 28–30, 35, 37, 43–44, 101, 200–201 responsibility, 29, 35, 48;

Shakespeare, Tom, 170–72 sociability, 69, 78, 81–82 stigma, 168, 180–82, 188 subjectivation, 56

United Nations, 2, 193n10 vulnerability, 2–3, 92 Wahlberg, Ayo, 48, 68, 76, 90, 91, 104, 196 wellbeing, 68, 70, 97, 102, 104–5

About the Editors

Małgorzata Rajtar (PhD) is an anthropologist and sociologist. She is an associate professor and head of the Rare Disease Social Research Center at the Institute of Philosophy and Sociology of the Polish Academy of Sciences. Her research interests include medical anthropology and sociology; bioethics; science and technology studies; and health and religion. Since 2016, she has conducted ethnographic research on rare diseases with a particular focus on rare metabolic diseases, biotechnologies, and healthcare policies in Finland and Poland. She has published in Anthropology & Medicine, Bioethics, and Social Science & Medicine, among others. She is the coeditor of Religion and the Secular in Eastern Germany, 1945 to the Present (with E. Peperkamp, Brill 2010) and Emotions in Culture (with J. Straczuk, Warsaw University Press, 2012). Katarzyna E. Król is a cultural anthropologist and sociologist; she is currently a PhD student at the Graduate School for Social Research at the Institute of Philosophy and Sociology, Polish Academy of Sciences, where she is writing her dissertation, “Knowledge Production and Biomedical Cultures within Rare Diseases in Poland.” She has conducted ethnographic fieldwork in Georgia and Poland. In 2014, she was awarded the prestigious Diamond Grant for outstanding researchers from the Ministry of Science and Higher Education (Poland).

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About the Contributors

Anna Chowaniec (PhD) is an anthropologist researching the sociocultural dimensions of health and illness. Her research concentrated on the experiences of Polish families coping with genetic conditions and access to healthcare for minority groups. She has led and participated in several research projects funded by the Polish National Science Center and the University of Warsaw. She published in many journals, such as BMC Public Health, and contributed to books such as The Routledge Handbook of Disability Activism. She has presented at numerous conferences and collaborated with research centres and organizations (Center for Bioethics and Biolaw, Center for Bioethics and Biolaw, University of Warsaw, Poland). Ewa Ehmke vel Emczyńska-Seliga (MD) is a dietitian in the Department of Pediatrics, Nutrition and Metabolic Diseases at the Children’s Memorial Health Institute in Warsaw, Poland. She is also a medical consultant in Neurosphera—Center for Neurology, Epilepsy, and Psychiatry in Warsaw (Poland) as well as the collaborator of the Rare Disease Social Research Center in the Institute of Philosophy and Sociology PAS in Warsaw. She specializes in pediatric dietetics, ketogenic diet in neurology, and nutrition in inborn errors of metabolism. She has published in JIMD Reports; Endocrinology, Diabetes and Obesity; Clinical Nutrition ESPEN, and Pediatric Endocrinology Diabetes and Metabolism, among others. Jan Frydrych is a PhD student at the Institute of Polish Culture, University of Warsaw, Poland. His research focuses on medical anthropology, anthropology of death and dying, and disability studies. He currently studies Polish hospices and palliative care. He is a collaborator of the Rare Disease Social Research Center in the Institute of Philosophy and Sociology at the Polish Academy of Sciences in Warsaw, Poland, where he carried out research on rare diseases and disability (2018–2022). He published in Polish and English in Etnografia. Praktyki, Teorie, Doświadczenia [Ethnography: Practices, 211

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About the Contributors

Theories, and Experiences]; Palliative Medicine, and Przegląd Humanistyczny [Humanities Review]. Roosa Harmo has a BSc in genetics from the University of Glasgow and a MSc in bioethics from King’s College London. She is currently studying medicine at the University of St. Andrews. In addition to her studies, Roosa has worked in various biological research laboratories, qualitative research, and social care. Roosa developed an interest in the ethics of emerging biotechnologies when studying genetics and wrote her master’s dissertation on the regulation of cerebral organoid research. As a medical student, Roosa has a particular interest in the concept of capacity and its role in medical decision-making. Filip Rogalski (PhD) is an ethnologist and sociocultural anthropologist who works as an assistant professor at the Institute of Anthropology, University of Gdańsk (Poland). He has conducted ethnographic fieldwork in Peruvian Amazonia, the Basque Country, Poland, and Sweden. Between 2018 and 2022 he worked at the Institute of Philosophy and Sociology PAS, Poland. His interests include medical anthropology, personhood and subjectivity of people living with chronic conditions, human-nonhuman relationships, the ontological turn in anthropology, anthropological perspectives on the Anthropocene, the ethnology of hunting societies, and the ethnology of the indigenous and aboriginal peoples of Amazonia and Australia. Małgorzata Skweres-Kuchta (PhD) is an assistant professor in the Institute of Management at University of Szczecin, Poland. She is also a member of the Program Council of the Academy for the Development of Patient Organizations PACJENCI.PRO, a member of the Patient Organization Council at the Ombudsman for Patients’ Rights, and the president of Platinum Team Foundation, an organization for Batten disease (CLN2). She is scientifically involved in the management of organizations, teams, and projects. She is particularly close to the area of sustainable management and solutions for families with rare diseases. She is the mother of Platinum Boy Kuba, who has CLN2. Karoliina Snell (DocSocSc) is a sociologist at University of Helsinki specializing in science and technology studies, sociology of health, and public understanding of science. Her current research focuses on politics and practices of health data and genomics, and the different relationships among people, care, and technologies. Ongoing research projects include “Human-Centred Data Economy—True or Fiction?” and “Data Literacy

About the Contributors

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for Responsible Decision-Making.” She is actively involved in busting data myths and discussions on research ethics in different fields. Aaro Tupasela, (PhD, University of Helsinki, Finland) is a sociologist of science and technology working at the University of Helsinki. He has previously worked as an associate professor at the Department of Public Health at the University of Copenhagen. His most recent book Populations as Brands— Marketing National Resources for Global Data Markets (2021) explores how data on populations in Finland and Denmark is being marketed for the global data economy. Additionally, he has published in Science as Culture; Social Studies of Science; New Genetics & Society, and Studies in Ethnicity and Nationalism, among others. Kirmo Wartiovaara (PhD) is an adjunct professor in stem cell biology and specialist in clinical genetics. He works as a consultant in clinical genetics at the Helsinki University Hospital and as a scientist at University of Helsinki. He is interested in understanding the genetic basis of inherited diseases and developing therapies by modifying the DNA code. Currently, his group uses the CRISPR-Cas9 system to edit the patient-derived stem cells. He is also interested in public awareness and writes popular science texts and participates in genetics and gene editing teaching and policy advising work.