Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases

This paper explores ways in which genetic risk foregrounds forms of responsibility while dealing with reproduction. We analyzed individual and family semi-structured interviews (n = 35) with people at-risk for or affected by transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and Machado-Joseph disease (MJD), which are late-onset neurological diseases. Although generally considered as rare diseases, some areas in Portugal present the world's highest frequency for MJD and TTR-FAP. Thematic analysis of the data revealed that participants drew on various - sometimes ambivalent and competing - understandings of their genetic risk and their wish to have children. Some participants perceived the avoidance of genetic risk to be responsible behavior, while, for others, responsibility entailed accepting risks because they prioritized values such as parenthood, family relationships and the value of life, above any question of genetic disease. Some participants shared accounts that were fraught with ambivalence, repentance and guilt, especially when children were born before participants knew of their own or their partner's risk. Participants' accounts also showed they make continued efforts to see themselves as responsible persons and to appear responsible in the eyes of others. We discuss findings in the context of participants' negotiation between genetic risk and their sense of responsibility toward themselves and others; we conclude that genetic responsibility is present not only in accounts of those who chose not to have children but also in those who make an informed decision to have at-risk children.

Automated summary

This study explores how genetic risk foregrounds forms of responsibility in dealing with reproduction. Findings suggest that some individuals perceive avoiding genetic risk as responsible behavior, while others prioritize values such as parenthood, family relationships, and the value of life, and accept risks. Participants' accounts also reflect efforts to see themselves as responsible persons and to appear responsible in the eyes of others.