Experiences with Machado-Joseph disease in São Miguel, Azores: persons with a diagnosis, their relatives, and professionals

• Autor(a) principal: Couto, Daniela Medeiros
• Data de Publicação: 2022
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10773/34869
• topic: Machado-Joseph disease; Hereditary ataxia; SCA3; Stigma; Psychosocial genetics; Qualitative analysis

Machado-Joseph Disease (MJD) is an inherited genetic disease with the highest incidence globally in the Azores, Portugal. As a rare disease, MJD is scarcely known in society compared to other diseases. This exploratory qualitative study aims to explore the experiences related to MJD of persons with a diagnosis, their relatives, and healthcare and AAADMJ’s day-care professionals, living on the island of São Miguel (Azores). Semi-structured interviews with 28 participants (15 persons with a diagnosis, 5 relatives (including pre-symptomatic carriers, individuals at-risk and non-biological relatives), 5 day-care workers and 3 health professionals) were audio-recorded, fully transcribed, and analysed thematically. The main findings of this study suggest an experience at four levels: at a community level, with less stigma reported nowadays mainly due to the work of the AAADMJ, which has contributed to increase support and information about MJD; at a family level, through a transgenerational process encompassing the past, present and the future and marked by the need for serial caregiving of persons with a diagnosis; at an individual level, involving genetic testing decisions and dealing with symptom progression, incapacity, and early death; and at a level related with the restrictions in care imposed by the COVID-19 pandemic. Results highlight the work of the AAADMJ, which has contributed to provide support to DMJ families and to increase their quality of life and their wish to live integrated in society. Affected individuals’ associations for other rare diseases is fundamental to give voice to these individuals and minimise the stigma and prejudice that can surround them on a daily basis.