Transition in Rare Diseases

Kierownik projektu: 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. >>>

Antropologia chorób rzadkich. Studium regionu Morza Bałtyckiego.

Kierownik projektu: Małgorzata Rajtar

Badacze: 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 proposed 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 >>>

Rzadkie choroby metaboliczne – studium antropologiczne

Kierownik projektu: Anna Chowaniec

W ramach prac badawczych nad rozprawą doktorską podjęłam się przeprowadzenia etnograficznych badań terenowych wśród rodzin w których urodziło się dziecko z jedną z dwóch chorób metabolicznych – deficytem LCHAD lub fenyloketonurią (PKU). Zbadanie, zanalizowanie oraz opisanie podobieństw oraz różnic w doświadczeniach rodzin dotkniętych tymi chorobami pozwolić może na pokazanie szerszego kontekstu doświadczeń osób (szczególnie dzieci) chorych na rzadkie choroby metaboliczne w Polsce. LCHAD I PKU to choroby rzadkie (co oznacza, że dotykają mniej niż 5 na 10 tysięcy osób), o podłożu genetycznym, diagnozowane w pierwszych dobach życia dziecka. Chociaż, podobnie jak w przypadku większości chorób rzadkich, nie ma na nie lekarstwa, dzięki natychmiastowemu wprowadzeniu odpowiedniego postępowania terapeutycznego – restrykcyjnej diety (LCHADD – beztłuszczowej, PKU – bezbiałkowej) – możliwe jest uniknięcie wystąpienia niektórych objawów i zahamowanie wyniszczającej choroby. Niezastosowanie się do tych wymagań spowodować może nie tylko niepełnosprawność intelektualną i padaczkę (PKU), ale nawet uszkodzenie mięśnia sercowego i śmierć (LCHADD). Głównym celem prowadzonych badań jest przyjrzenie >>>

Społeczno-kulturowe wymiary chorób rzadkich: przypadek niedoboru LCHAD. Porównawcze studium przypadku Polski i Finlandii

Kierownik projektu: Małgorzata Rajtar

Badacze: Anna Kwaśniewska, Anna Chowaniec

This is a three-year project based at the Department of Ethnology and Cultural Anthropology at the Adam Mickiewicz University in Poznań, Poland. The project has three objectives. First, it aims 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 aims 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 seeks to examine 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 aims at comparing two regions—Pomerania in Poland and southern Finland—that have been singled out >>>