Oral Presentation Session
Reviewed by: Society for Medical Anthropology
Of interest to: Practicing and Applied Anthropologists, Teachers of Anthropology in Community Colleges, Students, Those Involved in Mentoring Activities
Primary Theme: Health
Secondary Theme: Technology
A daily tablespoon of corn starch, a low protein diet, carnitine supplements, Omega 3 fish oil pills, a biologic enzyme replacement therapy that costs $500,000 per year: what links these different substances and practices is that they are all treatments for rare genetic metabolic disease. The conditions that get labeled ‘rare’ or ‘orphan’ constitute a diverse and growing group of up to 8000 genetic conditions that are chronic, disabling, and sometimes fatal. Biomedical care practices in rare disease have been substantially altered in recent years—from a clinical practice of testing and tinkering with different dosages of vitamins and therapeutic diets to one that also includes prescribing and monitoring the use of controversial expensive therapies. Newborn genetic screening programs facilitate earlier treatment of the afflicted, but they equally raise new ethical questions and introduce new inequalities in terms of access and money. In all contexts, patients and their families grapple with being ‘rare,’ particularly as these interventions and technologies open new moral frames for cultural projects of belonging and care.
In connection with conversations carried out during the panel “What Does it Mean to ‘Care for Rare’? Anthropological Interventions and Imagination in Rare Disease.( Part 1),” this panel attends to therapeutic narratives of rarity. Drawing from ethnographic research with patients suffering from metabolic rare diseases (such as LCHADD and MCADD) in Finland, New Zealand, and Poland as well as rare genetic diseases (such as cystic fibrosis and Turner Syndrome) in Poland and the U.S., their families, and healthcare professionals, the panelists analyze care practices employed in the field of rare diseases. Specifically, against the background ontological, phenomenological, epistemological, and care ethics scholarship they examine two issues. First, they attend to patients’ engagement and lives with medical biotechnologies (such as mechanical circulatory support, lung transplant, and feeding tubes). Second, they look at the ever-changing and negotiated intersection of normalcy and rarity and ask how they are enacted through bodily practices.