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

Grant number: 2015/17/B/HS3/00107

Duration: 01.2016-07.2019

Funding: National Science Center (OPUS 9)

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 to their biological similarity. By utilizing ethnographic and archival research methods, it went, however, beyond medical definitions. The project argued that establishing "carrier frequency" and biomedical symptoms of rare diseases does not account for daily experiences and problems of patients and/or families with children who have LCHADD. Neither does it tell us how individuals, communities, and the state “redefine biological findings into potent cultural idioms” (Wailoo 2007: 671). Furthermore, biomedical definitions tend to overlook culturally and politically ambivalent issues of genes and genetic research on rare diseases in contemporary societies.


Chowaniec-Rylke, A. 2016. Choroby rzadkie - perspektywa antropologiczna [Rare Diseases: An Anthropological Perspective]. In: Oblicza choroby w czasach płynnej nowoczesności [Dimensions of Illness in the Fluid Modernity]. E. Nowina-Sroczyńska, S. Latocha, & T. Siemieński (eds.), pp. 111-127. Bytów-Łódź.

Chowaniec-Rylke, A. 2018. Nigdy do końca zdrowi, nigdy dość chorzy. Doświadczenia rodziców dzieci chorych na LCHADD [Neither fully healthy, nor fully sick. Experiences of parents of children with LCHADD]. In: Dzieci i zdrowie. Wstęp do childhood studies [Children and Health: An Introduction to Childhood Studies]. M. Radkowska-Walkowicz & M. Reimann (eds.). Warsaw: Oficyna Naukowa.

Chowaniec-Rylke, A. 2018. Fat-free, high in calories. Management of diets in the case of a rare metabolic disorder. Studia Humanistyczne AGH [Contributions to Humanities] 17(2): 31-41.

Chowaniec-Rylke. 2018. Posiłek co dwie godziny, czyli o relacjach rodzinnych, “zarządzaniu” dietą i definicjach niepełnosprawności w przypadku rzadkiej choroby metabolicznej [Seven meals a day. Family relations, disease management and definitions of disability in case of rare metabolic disorder] Etnografia Polska [Polish Ethnography] 62(1-2): 163-182.

Chowaniec-Rylke, A. In press. ”LCHAD Poland” and the Fight against Inequality: The Role of Internet Advocacy in Cases of Rare Genetic Conditions. In: The New Disability Activism: Current Trends, Shifting Priorities and (Uncertain) Future Directions. M. Berghs, T. Chataika, and Y. El-Lahib, eds. Routledge.

Kwaśniewska, A. 2017. Choroba genetyczna jak o klątwa. Analiza i kontekst dyskursu medialnego dotyczącego tzw. genu kaszubskiego. [Genetic Disease as a Curse: An Analysis and Contextualization of the Media Discourse on the “Kashubian Gene”]. Lud 101: 231-251.

Kwaśniewska, A. In press. Endogamia i zwyczaje małżeńskie na Kaszubach w kontekście tzw. genu kaszubskiego. Studia Etnologiczne i Antropologiczne [Journal of Ethnology and Anthropology] 19.

Rajtar, M. 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.

Rajtar, M. 2019. Normalised Eating and Dietary Guidelines in LCHAD Deficiency. Ethnologia Polona 40: 91-108. >>>