Rare diseases, body, and stigma: a comparative analysis of people living with berardinelli syndrome and Machado–Joseph disease in Brazil

OBJECTIVES: This article analyses how people living with rare diseases are stigmatised due to physical features and bodily alterations, considering the moral dimensions through which these differences are read. The analysis draws on research conducted in two regions of Brazil (Northeast and Southeast) with people affected by two hereditary rare conditions: Berardinelli Syndrome (BS) and Machado-Joseph Disease (MJD). We selected these conditions because of their significant bodily transformations: BS is present from birth, whereas MJD emerges in adulthood. This enabled us to examine how stigma is managed within families across the life course and identify who, beyond those directly affected, experiences its impacts. METHODS: The article draws on data from two research projects conducted at different times. Both involved ethnographic fieldwork in hospitals and public events organised by patient associations, as well as in-depth interviews with patients and family members. Materials were analysed through narrative analysis. RESULTS AND DISCUSSION: Our analysis was guided by three lines of inquiry concerning the construction and perception of stigma among people living with BS and MJD: (1) recognition of the first symptoms and lay interpretations of illness, leading to encounters with genetic explanations for its causation; (2) experiences of stigma through the interplay between bodily changes and gender expectations in the context of rare disease; and (3) health activism as a mechanism for coping with stigma. FINDINGS: Our findings reveal how the intersection of body, stigma, and identity produces moral readings of people living with rare diseases, based on the social interpretation of bodily changes brought about by these conditions.