Transition in Rare Diseases

About 8000 Rare Diseases (RDs) have been identified. These conditions of low prevalence (1:2000) affect 6-8% of the population in Europe and are primarily of genetic origin. About 70% of RDs start in early childhood. Since progress in disease management has improved the life expectancy, however, more RD patients experience a transition from the pediatric hospital to an adult care setting. Greater personal responsibility and active involvement in care is expected of adult patients while they face increasing health problems associated to aging with a progressive chronic condition. This medical anthropology project focuses on transition as a liminal and life-changing period of RD patients that coincides with other crucial bodily, social, economic and political transitions associated with turning into an adult. RD transition is investigated in its spatial, structural, and temporal aspects as a multi-dimensional process, involving patients, caregivers, providers, and stakeholders of the medical system.

This Joint Project between the Austrian and the Polish Academy of Sciences will use qualitative and comparative ethnographic research methods to address the process of transition in selected RDs. As PI, E. Knoll (ÖAW) will focus on rare inherited blood disorders linked to migration in Austria. Co-PI Malgorzata Rajtar (PAN) will focus on rare inherited metabolic diseases in Poland.

Projektleitung:
Eva-Maria Knoll

Projektlaufzeit:
01.09.2024-31.08.2026