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Paper short abstract

Better diagnosis and treatment have lengthened the lives of people with rare diseases, who are now experiencing the transition from pediatric to adult care. This paper attends to transition as a boundary object and asks who and what cares for this frontier, which is in constant flux.

Paper long abstract

In recent years, transition has become a buzzword in the rare disease community. Better and faster diagnosis and the development of treatment modalities have prolonged the lives of many people with rare diseases, conditions that affect 1 in less than 2000 individuals in Europe. Yet, commonly understood in biomedicine as the transition from pediatric to adult care and often demarcated by the legal age of 18, transition is neither stable nor well entrenched in healthcare systems in many countries.

This paper draws from ethnographic interviews with different stakeholders and a preliminary survey on transition experiences of adults with rare metabolic disorders and their caregivers in Poland. Engaging with the concept of “boundary objects” (Star and Griesemer 1989; Bowker and Star 2010) and care studies in STS (Lindén and Lydahl 2021; Mol and Hardon 2021), I attend to transition as a boundary object and a frontier, which is in constant flux. The mere possibility of transition for these patients highlights their extended life span. Nonetheless, in countries such as Poland, transition also reveals care limits in rare genetic diseases. Patients and caregivers feel abandoned by the healthcare system, standards and guidelines are lacking, not to mention ethical and legal entanglements, which affect people with rare diseases and intellectual disabilities. I ask who and what facilitates or inhibits care in transition and how transition, as a new time-space frontier in rare diseases, emerges as a boundary object.