„Niech pożywienie będzie lekarstwem, a lekarstwo pożywieniem”. Doświadczenia rodzin dzieci zdiagnozowanych z fenyloketonurią.

Dr Anna Chowaniec (Centrum Etyki i Bioprawa, Uniwersytet Warszawski)

Fenyloketonuria (PKU) jest jedną z najwcześniej odkrytych wrodzonych wad metabolizmu, a pierwszą, którą wprowadzono do panelu diagnostycznego powszechnego programu badań przesiewowych noworodków. Jeśli jest odpowiednio leczona, jej objawy są dla pacjenta prawie niezauważalne. Jeżeli jednak we wczesnym dzieciństwie terapia nie jest przestrzegana, fenyloketonuria może prowadzić do głębokiej niepełnosprawności intelektualnej i fizycznej.

Czerpiąc z trwających 3,5 roku etnograficznych badań terenowych wśród polskich rodzin dotkniętych diagnozą PKU, niniejsze wystąpienie ma na celu prześledzenie i pokazanie, jak postrzegają terapię rodzice, lekarze i instytucje państwowe zaangażowane życie dziecka z PKU. PKU jest bowiem chorobą o szczególnym przebiegu. Jest to choroba o podłożu genetycznym – nieprawidłowość w jednym genie wpływa na zdolność organizmu do metabolizowania składników odżywczych z pożywienia. W przypadku PKU ciało nie jest w stanie odpowiednio przetworzyć jednego z aminokwasów, który w toksycznych ilościach odkłada się w tkankach, wpływając negatywnie przede wszystkim na pracę mózgu. Aby do tego nie doszło, konieczna jest restrykcyjna dieta, opierająca się na, poddawanej stałej kontroli, równowadze składników odżywczych.

Odnosząc się do starożytnej teorii humoralnej, wskażę, że jest ona wciąż obecna w myśleniu o zdrowiu, chorobie i znaczeniu jedzenia w terapii PKU. Rozumienie jedzenia jako leku a diety jako terapii leczniczej, choć było oczywiste dla rodziców i niektórych lekarzy, nie było takie dla innych lekarzy czy przedstawicieli Ministerstwa Zdrowia. Jak wskażę, to odmienne postrzeganie roli jedzenia w życiu dziecka z PKU wpływa również na definiowanie rodzica jako eksperta-laika, stającego często w opozycji do państwowych systemów opieki.

Biosociality in Rare Disease Advocacy – helpful or harmful?

Pauline McCormack, Senior Lecturer, Dept of Sociology and PEALS Research Centre, Newcastle University, UK

Rare disease advocates and patient organisations promote concepts of solidarity and biosociality to draw attention to a lack of research and effective treatments for rare disorders. By positioning rare diseases as a single disease group affecting 30m people in Europe and popularising statements like ‘rare diseases are not rare’, they have succeeded in drawing attention to the relative neglect of rare disease in the political and healthcare landscape. This has resulted in people with rare disease being represented as having unified needs and goals with homogenous views on such matters as research participation, regulation and data sharing. In contrast, my research with 52 rare disease advocates, from 16 countries found their opinions of medical research were highly variable and sometimes in opposition. This talk will discuss what the implications are for biosociality and the social licence between researchers and patients and ask if legal, ethical and regulatory approaches to rare disease research are nuanced enough to represent the heterogeneity of rare disease patients’ views.

Immigrants to health: The practices of everyday life with a rare chronic illness.

Stefan Reinsch (Physician and medical anthropologist from the University Children’s Hospital Neuruppin & Centre of Health Service Research, Brandenburg Medical School – Theodor Fontane, Germany.)

Anthropologists have directed our attention to the struggles of marginalized individuals and vulnerable groups like those with a rare illness to gain greater public visibility of their therapeutic burden. Yet, only modest attention has been paid to the efforts put into achieving a visible normality through therapeutic practices or to the therapeutic work behind this apparent normality.

This paper builds on a long-term anthropological study in collaboration with a group of young adults who have cystic fibrosis (CF), a rare genetic and life-shortening condition. Therapy can postpone disease progression, but it is burdensome, time-consuming, and can make illness visible. Over the last 15 years I explored how young people – who often do not readily appear to be sick – integrate therapy into their daily lives.

Using a practice-theoretical approach inspired by Michel de Certeau, I examine the tactics they employ in carving out a habitable space in an ableist world. As both anthropologist and physician, I am interested in their creative struggle for well-being, care and with morality. I suggest that living with CF can be understood (and is described by some people with CF) like being an immigrant to the world of the healthy. It means managing a precarious normality since while the visibility of illness is a resource that can be used to gain support and care, it also excludes them from the group of the healthy ones.

Mobilizing Mutations: Remaking the Normal vs. Pathological in Genomic Medicine and Patient Advocacy

Daniel Navon (University of California San Diego)

It turns out that genetic mutations are both far more numerous and difficult to interpret than experts anticipated. What will this mean as we move into an era of genomic or ‘precision’ medicine? In this talk, I examine how research on people with genetic mutations is destabilizing longstanding modes of measuring, categorizing, and managing human difference. Genetic mutations and variants are increasingly used to reclassify illness, leading to the formation of support groups, foundations, specialist clinics, and dedicated literatures for conditions like the XXX, NGLY1, Fragile X, and 22q11.2 Deletion Syndromes. Today, a positive genetic test for one of these conditions can radically alter the way a patient is understood and treated. Increasingly, as the distinction between ‘carrier genes’ and mild genetic disorders is blurred, finding a mutation can even realign the very boundary between the normal and pathological.

Studying Invisible Disabilities, Inequality, and Family Life in the Contemporary U.S.

Linda M. Blum, Professor, Department of Sociology and Anthropology, Northeastern University, Boston, MA, USA

Linda Blum will provide an overview of her work on invisible disabilities, including her 2015 book Raising Generation Rx: Mothering Kids with Invisible Disabilities in an Age of Inequality (NYU Press) and a more recent follow-up project. The book, based on three sources of qualitative data – in-depth interviews with 48 diverse U.S. mothers, observations of special-education parents’ meetings, and analysis of popular advice — examines how the burgeoning diagnoses of children in the U.S. with social, emotional, behavioral disorders revises notions of mother-blame and compels mothers in widely varied households to advocate for their children in the dense bureaucracies of the American educational and medical systems as they wrestle with decisions about the use of psychoactive medications. The book’s chapters also demonstrate that an intersectional analysis is needed to make sense of such families’ experiences. A follow-up project based on interviews with 15 of the original mothers over a decade later – with children now young adults – examines disruptions and challenges to culturally dominant stories valorizing the singular heroic overcoming of disability.

Sickle cell disease medical history in Brazil and global politics

Juliana M. Cavalcanti, PhD, University of São Paulo, Brazil

The first medical descriptions of sickle cell disease (SCD) in Brazil occurred in 1930s, followed by a decade of extensive screening of many different populations groups. Thousands of soldiers, indigenous people and industrial workers were submitted to blood screening for sickle cells. Domestic migration grew exponentially in 1940s and fears of ‘dissemination’ (sic) of sickle cell gene brought by migrant workers of Northeast appeared in some medical works. Nonetheless beliefs of a ‘dilution’ of the gene through racial mixture achieved a strong and wider significance for a society concerned with population whiteness. In the post-war era, new diagnostic tools, inheritance theories and, in particular, discussions on the concepts of race and racial relations, both nationally and internationally, were changing previous racialist and racist views. Nonetheless, the Brazilian medical interpretations of sickle cell disease continued to racialize it and even use deep-rooted racist formulations to explain its symptoms or the existence of the disease. Between 2006 and 2010 Brazilian government promoted a series of scientific encounters and visits mediated by diplomatic and health ministries in some African countries to discuss models of care to SCD. The objective was to change or shake the ample interpretation called “Education for Prevention”, i. e., the effort to create policies based on preconception screening, genetic counseling and abortions. Sickle cell disease has become a global issue and prevention has been the health strategy chosen as a solution. In this presentation I seek to debate how past notions about disease, race and black bodies still shape, under new guises, the definition of SCD in the contemporary discourse.

Hope, fear and human genetic modification

Rebecca Dimond, PhD, Cardiff University

In this presentation I discuss the role of persuasion and representation in public and parliamentary debates about new reproductive technologies. In 2015 the UK became the first country to allow the clinical licensing of novel and controversial IVF techniques known as mitochondrial donation, enabling women with mitochondrial disease to have healthy, genetically related children. The techniques are controversial because they involve modification of the human germline, which means that genetic changes could be inherited by future generations. Legalisation was preceded by an extensive process of public consultations, parliamentary debates and scientific reviews which for some, established the UK as the ‘gold standard’ in regulation. Patients were allocated a critical role within the mitochondrial debates – as expert knowers, as victims and as future beneficiaries. Patient experiences were used as evidence of the clinical utility of the techniques, and suffering narratives became a powerful and dominant imaginary, with mitochondrial donation represented as a technological solution that would prevent children suffering and even eradicate mitochondrial disease from society. Those who fought against legalisation struggled to compete against such a dominant framing. With the debate now shifting in many countries to gene editing techniques, this presentation will consider what kinds of experience will be mobilised as evidence to support a technology which has much wider application than for one rare disease patient population.

“Evidence-based activism” and the multiple paths of democracy

Pr. Vololona Rabeharisoa, Centre de sociologie de l’innovation, UMR CNRS i3 PSL MINES ParisTech

Patient organizations emerged in the 1930s in Europe and North America. In a number of countries, they are today regarded as stakeholders in the domain of health and medicine. Their political and social recognition signposts a larger phenomenon of extension of democratic imperative to activities that have long been the preserve of experts. How did all this begin? How do patient organizations strive to establish their epistemic authority? What does patient activism teach us about the forms of democracy in contemporary liberal societies? Those are the questions that I will be addressing in this communication.

I will first show that patient organizations have always put patients’ “experiential knowledge” at the core of their missions. A remarkable change occurred around the 1980s, when certain patient organizations started to fight for this “experiential knowledge” be considered as a relevant corpus of knowledge for forging evidence and giving shape to medical and health issues they deem important to address. My colleagues and I call this form of patient activism “evidence-based activism”, which I will give a few examples of to illustrate patient organizations’ epistemic and political role.

Finally, I will provide a few reflections on the progressive institutionalization of the figure of the “expert patient”, a category that is today part and parcel of institutional parlance. I will show that though this institutionalization brings in recognition and legitimacy to patients’ participation to health policy making, it also comes with debates on the multiple paths of democracy in contemporary liberal societies.

Caught up in care – chronic fatigue and self-management

Mette Bech Risør

Professor, UiT The Arctic University of Tromsø, Department of Community Medicine, General Practice Research Unit and University of Copenhagen, Department of Public Health, The Research Unit for General Practice.

In this talk, I will introduce an on-going research interest in medically unexplained symptoms/contested disorders. The notion of illness perception or illness explanation has been central to this interest, as well as negotiations on diagnosis in clinical encounters and the healthcare seeking processes patients engage in. Through an example of a recent study, I wish to follow up a theoretical inspiration from sensorial anthropology and combine this with an analysis of self-management. Based on ethnographic fieldwork in a hospital clinic in Norway, I focus on how patients with chronic fatigue during diagnostic assessment receive advice, based on ideas of self-management and conveyed as “activity regulation”. During the study, patients were observed having consultations with four different health professionals. The final discussion where the professionals discussed which diagnosis and care plan they would agree on, was also included. Overall, I contend that the ideology and technology of self-management framed the hope for recovery and crafted a subject with the ability to improve. Patients, however, lingered between everyday social predicaments – they eagerly demonstrated their competences and everyday concerns and priorities – and ideals of healthy living, and they were caught up in cultural models of care that deflected everyday concerns and agency. Summing up, I will briefly present future inspirations for elaborating the phenomenon of contested disorders further, three different perspectives that I am currently working on and that spring from my recent readings and work.

Trust and Belief: Parents of Children with Disabilities in the Therapeutic Landscape of Contemporary Ulan-Ude (Republic of Buryatia, Russia)

Anna Klepikova, European University at St.Petersburg
Co-authored by Anna Altukhova, European University at St.Petersburg

Ulan-Ude is the capital of Buryatia, a Russian region in East Siberia that borders with Mongolia. It has the population of around 500 000 people, at least 30% identifying themselves as buryats and Buddhists. This presentation is mostly based on the materials of a month-long pilot fieldwork conducted by my colleague Anna Altukhova and me in Ulan-Ude September 2020.
Speaking about Buryatia, however, I would like first to cite some of the results of our previous research, conducted in three largest and predominantly Orthodox Russian cities: Moscow, St.Petersburg and Novosibirsk in 2016-2017. It focused on the biographies of parents of children with disabilities and discussed parental choices of treatment and rehabilitation strategies. The study has shown that parents have to deal with numerous difficulties and uncertainties on their way: when receiving an appropriated diagnosis, selecting an effective therapeutic model, placing the child into schooling, organizing her adult life, and so on. Many parents soon become disappointed at the organization of healthcare system, medical communication and rehabilitation in the framework of the official medicine. As they fail to receive sufficient answers to their questions or find a satisfactory level of support, many of them turn for help to various alternative methods of therapy. On the one hand, these methods may include various pedagogical systems, ABA-therapy among them, and on the other, they include numerous therapeutic techniques like naturopathy, chelation, diets, dolphin therapy, “bioacoustic brain correction”, and so on. One of the ideas that guide some of them through their therapeutic route, and one of their strategies of stigma resistance, at least as formulated at the discursive level, is the hope that their child could be reset back to the “norm”, and alternative therapies seem to raise more trust here than official medicine or pedagogics.

Our research in Buryatia, partly focusing on the same subject, has unsurprisingly shown quite a similar, but still culturally rather specific picture. Local official medicine, neurology, psychiatry and paedopsychiatry in particular, trigger even more distrust in parents of children with disabilities, than in case of the cities I described above. They prefer to turn for medical consultations to the physicians and psychiatrists in the neighboring regions.
At the same time, modern Buryatia represents a complicated “therapeutic landscape” – term used by scholars to define a place where different forms of experience, materialities, cosmologies of therapeutic action meet and collide, and where various methods of treatment are differentiated, arranged and coordinated, see [Chudakova 2015, Craig 2012, Langwick 2008]. Modern Buryatia is characterized by recent revitalization of Buddhism and shamanism, the upsurge of various magical services in the post-Soviet period, see [Lindquist 2005]. The recent legalization of folk healers there is accompanied by a very low level of trust towards biomedical services, see [Chudakova 2013, Chudakova 2015, Quijada 2019: 130]. As a result, the Buryatian therapeutic landscape is densely populated with the specialists belonging to a whole variety of symbolic healing systems, and it provides opportunities for parents to find help within Ulan-Ude or Buryatia region, what biomedicine paedopsychiatry, and paedopsychology fail to do there.
Our materials have shown, that parents of children with disabilities tend to turn to shamans, lamas, who fall into “emchi” (healers), chiropractors, and astrologists, Tibetan doctors, folk healers, magicians, spirit mediums, fortune-tellers, numerologists, and so on. In their search for effective help a parent might try different therapeutic systems: lamas’ prayers, shamans’ rites, directions from a fortune-teller, Tibetan herbs and acupuncture, magic spells, affirmations, removal of “speech closure” or “fright” in a child, and so on, while at the same time they might as well continue with treating their child with anti-psychotic or anti-spastic drugs, or taking ABA classes.

In the presentation I would like to discuss what systems finally find more trust among parents, and what specialists are endued with more authority. I will also highlight some peculiarities in the expected results of treatment and healing among parents in Buryatia in comparison with the outcomes of my previous research. One of the seeming differences is the fact that in Buryatia the need of full normification of a child with disabilities is not that acute: even tiny positive changes in the child’s condition are enough to satisfy her parents and prove that the specialist or the procedure were effective.

Current research is supported by the Russian Foundation for Basic Research grant № 20-09-00063А “Disability as a socio-cultural phenomenon”.

Chudakova, T. (2013). “Recovering Health: Tibetan Medicine and Biocosmopolitics in Russia.” Ph.D dissertation, Department of Anthropology, University of Chicago.
Chudakova, T. (2015). “The Pulse in the Machine: Automating Tibetan Diagnostic Palpation in Postsocialist Russia.” Comparative Studies in Society and History 57 (2): 407–34.
Craig, S. R. (2012). Healing elements: efficacy and the social ecologies of Tibetan medicine. Univ of California Press.
Langwick, S. A. (2008). Articulate (d) bodies: Traditional medicine in a Tanzanian hospital. American Ethnologist, 35(3), 428-439.
Lindquist, G. (2005). Conjuring hope: Healing and magic in contemporary Russia (Vol. 1). Berghahn books.
Quijada J. B. (2019). Buddhists, shamans, and Soviets: rituals of history in post-Soviet Buryatia. Oxford University Press.