Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal

Abstract

Rationale: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring.

Objective: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide.

Method: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness.

Results: Findings highlight the influence of a discrediting social context in the enactment of stigma. FAP was described as a source of devaluation and social distance and was permeated by beliefs of contagion in the community, especially in the past. The multigenerational nature of the illness within small communities was felt as a source of rejection for courtship and of devalued reproductive worth. Decisions to have (potentially affected) children seemed to be a target of implicit negative judgment. Dealing with stigma entailed restraint in talking about FAP especially outside the family, resistance to being treated as different, and social withdrawal. Some participants referred to recent substantial improvements in their social acceptance and a reduction in the intensity of the stigmatisation to which they are subject.

Conclusion: The pattern of stigma may have changed considerably within the past few decades, as medical information about the disease became more widespread, as new medications have been introduced and as clinical trials of other potential treatments have been established. Our findings report the social consequences of stigma towards this disease group and may help to understand how stigma is experienced in other heritable diseases.

Keywords: Discrimination; Familial amyloid polyneuropathy; Genetic disease; Genetics; Inheritance; Portugal; Predictive testing; Stigma.