Resumo Este estudo teve como objetivo caracterizar as associações de pessoas com doenças raras, como uma importante fonte de apoio psicossocial. Foram realizadas entrevistas a 38 participantes de 23 associações e delegações de pessoas com doenças raras, vinculadas ao Centro de Genética Preditiva e Preventiva. Das análises emergiram três categorias conceptuais: (1) missão das associações; (2) contexto do trabalho associativo; e (3) estratégias e oportunidades. Os principais obstáculos ao papel das associações como fonte de apoio às pessoas doentes e suas famílias foram: (1) dificuldade em encontrar voluntários; (2) baixo nível de literacia sobre doenças raras; (3) pouco envolvimento dos profissionais de saúde e população; e (4) dificuldade em obter financiamento. Os resultados mostraram que as associações têm um papel fundamental na defesa dos direitos das pessoas com doenças raras, sendo possível potenciar o seu trabalho, maximizando a integração com os serviços de saúde e a sua visibilidade.

Abstract Rare disease associations in Portugal: An important source of psychosocial support: This study aimed at characterizing the rare disease patients’ associations, as a relevant source of psychosocial support. Thirty-eight participants were interviewed, from 23 patients’ associations (or its regional sections), connected to Centro de Genética Preditiva e Preventiva. Three conceptual categories have emerged in their discourses: (1) mission of their associations; (2) current context of associative work; and (3) strategies used and existing opportunities. The most common limitations were (1) the difficulty in finding volunteers; (2) the low literacy about rare diseases; (3) the limited involvement of professionals and of the general population; and (4) difficulties with funding. Our results showed that associations do play a key role in the advocacy for patients with rare diseases; and that it is possible to reinforce their articulation with existing resources, facilitating their integration with healthcare services and, thus, maximizing their visibility.

Resumo Este estudo teve como objetivo explorar a experiência psicossocial de cuidadores informais de pessoas com paramiloidose. Os participantes foram recrutados através de uma instituição de apoio à paramiloidose, situada numa região endémica no norte de Portugal, onde foram realizadas 22 entrevistas semiestruturadas. Os dados foram analisados com recurso à análise fenomenológica interpretativa. Os resultados indicaram temas e subtemas interrelacionados. Sucintamente, o conhecimento relativo ao ato de cuidar, adquirido através de experiências anteriores, constituiu um aliado na atual prestação de cuidados. Porém, esse ato de cuidar provocou impactos psicossociais que potenciaram a adoção de estratégias de gestão por parte dos cuidadores. Procurando integrar a patologia e respetivos impactos, os cuidadores mencionaram experienciar diferentes fases de um processo de luto. Como resultado do desempenho deste papel, os cuidadores identificaram necessidades que salientam a importância da intervenção com esta população, visando atenuar ou eliminar os impactos psicossociais negativos resultantes do ato de cuidar.

Abstract This study aimed to explore the psychosocial experience of informal paramyloidosis caregivers. Semi-structured interviews were conducted with 22 participants recruited through a paramyloidosis support institution located in an endemic region in northern Portugal. The data were analysed using an interpretative phenomenological analysis. The results indicated themes and sub-themes interrelated with each other. Briefly, the knowledge related to the act of caring, which is acquired through previous experiences, is an ally for the current provision of care. However, the act of caring caused psychosocial impacts that enhanced the adoption of management strategies by the caregivers. Aiming to integrate the disease and its impacts, the caregivers reported experiencing different phases of the grieving process. As a result of the performance of this role, the caregivers identified needs that highlight the importance of intervention with this population, in order to mitigate or eliminate the negative psychosocial impacts resulting from the act of caring.

Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77%) of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4%) individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.