Health and the Value of Inheritance: The meanings surrounding a rare genetic disease

Abstract

In this article I explore the meanings acquired by the notion of 'genetic inheritance' for families in Rio de Janeiro affected by a rare hereditary dis- ResumoNeste artigo analiso os significados que a noção de "herança genética" adquire para famílias cariocas afetadas por uma enfermidade rara e hereditária, a Doença de Machado Joseph. Considero na análise três pontos: 1) como a experiência da doença foi tematizada na família antes de se saber sua origem genética e hereditária; 2) como o conhecimento em genética afetou a percepção da família sobre sua saúde e reprodução a partir da noção de risco

Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease

“…Others prioritized keeping open the prospect of living a "valid", worthwhile life, as that allowed them to preserve hope towards the future. These reflections ultimately evidence the participants' personal and familial values, as to management of genetic risks [17,21,28,29,[31][32][33].…”

“…To our knowledge, only one study has addressed those who chose not to undertake PST for MJD: an ethnographic study reported concerns among Brazilian MJD families with the emotional impact of a positive test result, including that it could hasten evolution of symptoms, and prevent attaining normative life goals [17]. Other research reported how individuals who made no attempts to seek PST for HD may be judged negatively by relatives and are often asked to justify their decision [18]; this creates tension in family relationships, as others regard it as a moral imperative to do so.…”

Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração

“…Entrevistei pessoas diagnosticadas com a doença e alguns de seus familiares sem sintomas, mas com risco de serem portadores da condição genética que causa a enfermidade. A DMJ é a forma de ataxia hereditária mais comum no Brasil, tem expressão tardia e é autossômica dominante 5,6 . Entre os sintomas estão a desarticulação da fala, desequilíbrio da marcha, paralisia de membros inferiores e superiores e dificuldades para deglutição.…”

Machado-Joseph Disease in the context of the person/family that experiences it: daily changes and future expectations Doença de Machado-Joseph no contexto da pessoa/família que a vivencia: alterações cotidianas e expectativas futuras

“…However, a study developed with families from Rio de Janeiro affected by MJD showed that their participants, instead of only talking about the negative physical consequences inherent to the disease, were more willing to evaluate the life they may still have when living with MJD. 20 The results of the research describe that the close relationship with parents and other relatives, who had already developed MJD but who previously had a professional career or who still had conditions to work, was taken into account in the process of acceptance and coexistence with the disease. They report that although they have become unstable with regard to balance and gait, also his ability to hold objects, they had the opportunity/time to raise their children before they became ill. 20 These examples can be used in practice with the person / family with MJD to help them think positively, even if they are living with a disease that sometimes presents in a frightening way, since it does not have a treatment that stagnates its evolution or cure it.…”