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

Grant number: 2017/26/E/HS3/00291

Duration: 05.2018-03.2023

Funding: National Science Center (Sonata Bis 7)

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 this domain and its implementation in different countries.

Rare diseases are often severe, chronic, disabling, and possibly lethal conditions; they not only decrease patients’ (and their families’) quality of life, but also pose a challenge for public healthcare. In the last decade, heightened attention has been given to rare diseases focusing on their medical, genetic, and public health aspects; moreover, their frequency, prevalence, and treatment have been examined. By focusing on rare metabolic disorders, this comparative, ethnographically grounded project enables an anthropological study of the phenomenon in its larger sociocultural, political, and economic context. Thus, it is aimed at discovering issues that escape “medical and public-health frameworks that define problems and structure solutions” (Pigg 2013: 128; Fassin 2012).