Diagnostic Moments in the Rare Disease Life Narratives of Mitochondrial Disease Patients in Germany

I draw on interviews I conducted in Germany with four individuals who were eventually diagnosed with mitochondrial disease, a category of rare neurogenetic disorders. Rather than the diagnosis of mitochondrial disease serving as a threshold between a before and after, I show how multiple ″diagnostic moments″ generate and shape mitochondrial disease life narratives as affected individuals embody emergent medical knowledge and navigate scientific unknowns. Attending to the plurality of diagnostic moments in rare disease life narratives illuminates the fragmented temporalities and incoherencies of illness experiences, which are often erased by an emphasis on a singular diagnostic moment.