Time, Travel, and Coincidence: Attending to “Diagnostic Moments” in Rare Disease Life Narratives
Jacquelyne Luce (Mount Holyoke College, USA)
Panel: Biosocialities, patient organizations, and activism in the area of rare diseases
Abstract: Mitochondrial diseases are often designated as rare neurogenetic and/or metabolic disorders. My long-term ethnographic research engages with the development of mitochondrial disease patient groups and the emergence of the “mito patient” and “mitochondrial medicine” in national and transnational settings. Including core fieldwork in Germany, my research extends to other settings in the Netherlands, the UK, the US, and Canada, as well as meetings of the International Mito Patients. Rare disease activism is situated within varied cultural and national histories of genetic research, biomedical foci on the “translational” future, competing perceptions of the bodymind, and shifting health and research priorities. Increasing availability of next generation sequencing and medical imaging technologies (e.g. MRI of the heart or brain), as well as political pressure and infrastructural innovations, are shaping both diagnostic and clinical care pathways related to mitochondrial diseases. In this paper, I bring observations from mitochondrial disease patient group meetings and scientific conferences together with interviews I undertook with patients, caregivers, and clinician-scientists to explore a series of “diagnostic moments” which contribute to, and also confront, narrations of “life with mito”. As policy makers are increasingly called upon to recognize rare diseases as research and care priorities, and clinicians work to formalize rare disease diagnostic pathways, I aim to address the often-fragmented temporalities of the diagnostic experience and the ways in which time, travel, and coincidence generate and shape rare disease life narratives.