Transition in Rare Diseases

Principal Investigator: Małgorzata Rajtar (RDSRC/Institute of Philosophy and Sociology, Polish Academy of Sciences) & Eva-Maria Knoll (Institute for Social Anthropology, Austrian Academy of Sciences)

This preliminary project will use qualitative research methods to address transition from pediatric care to adult care in selected rare diseases in Poland and Austria. Rare diseases (>8000) are primarily genetic conditions of low prevalence (1:2000) that affect 6-8% of population in Europe. While about 70% of rare diseases affect children, the progress in disease management over the last two decades has improved life expectancy of patients. Yet, health policies and medical curriculums still tend to focus on children with rare diseases. Transitioning from pediatric to adult care has been identified as a “growing public health need” (Inusa et al. 2020). This project aims to identify and examine the specific challenges associated with transition to adulthood and different social, psychological, and medical needs of adults with rare diseases in Poland and Austria. >>>

An Anthropology of Rare Diseases. A Study of the Baltic Sea Region.

Principal Investigator: Małgorzata Rajtar

Researchers: Filip Rogalski, Katarzyna Ewa Król, Jan Frydrych, Ewa Ehmke vel Emczyńska-Seliga

This four-year research project is based at the Institute of Philosophy and Sociology at the Polish Academy of Sciences in Warsaw, Poland. Drawing on ethnographic research in three countries around the Baltic Sea (Finland, Poland, and Sweden), the project aims at (1) examining daily experiences of people with rare metabolic disorders (in particular, fatty acid oxidation disorders and organic acid disorders) and their family members as well as their relationship with physicians, geneticists, genetic counselors, and dietitians from a comparative perspective. This particularly applies to (1a) dietary treatment and problems with eating that often necessitate usage of biomedical technologies, such as feeding tubes; as well as (1b) practices and actors of care. The project’s further goal is to (2) analyze the relationship between disability and rare diseases. Finally, the project seeks to (3) scrutinize state and transnational policies regarding rare disorders and orphan drugs with a special focus on the production of scientific knowledge in >>>

Rare metabolic disorders – anthropological perspective

Principal Investigator: Anna Chowaniec

In my research project I will examine experiences of the families dealing with rare metabolic disorder diagnosis of a child: LCHAD deficiency (LCHADD) and phenylketonuria (PKU). By using ethnographic methodology (participant observation and in-depth interviews) I will analyse and explore everyday struggles of children with inborn errors of metabolism and their caregivers, and will contribute to understanding Polish rare disease patients situation. LCHADD and PKU are considered rare disorders (which, according to regulation of the European Parliament, is one that affects less than 5 in 10 000 individuals), caused by genetic mutation and are diagnosed in first few days of child's life. As in case of most rare disorders, there is no known cure cures or, however, with proper treatment patients can improve and survive into adulthood. Treatment involves a strict diet that should be followed for patients whole life. In case of LCHADD dietary treatment involves high-caloric intake and fat-free products, and in PKU products >>>

Socio-cultural Dimensions of Rare Diseases: The Case of LCHAD Deficiency. A Comparative Study of Poland and Finland

Principal Investigator: Małgorzata Rajtar

Researchers: Anna Kwaśniewska, Anna Chowaniec

This project was based at the Department of Ethnology and Cultural Anthropology at the Adam Mickiewicz University in Poznań, Poland. The project had three objectives. First, it aimed at examining experiences of adult patients and families of children with a rare, genetic disease called Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) as a case study for other rare, “orphan” diseases prevalent in Poland (especially in the Pomerania region) and Finland. Second, it aimed at analyzing entanglements of diverse agents, such as patients with LCHADD who undergo dietary and medical treatment, their families, their physicians, and medical institutions. Third, by attending to processes of “geneticization” (Lippman 1991), the project examined how people make sense of genes and incorporate them into “older” cultural categories, such as “blood” and “curse” that have been ascribed to their social and group identities. The project aimed at comparing two regions—Pomerania in Poland and southern Finland—that have been singled out by genetic researchers due >>>