Couto Daniela, Sousa Liliana, Sequeiros Jorge, Lima Manuela, Mendes Álvaro
Department of Education and Psychology, CINTESIS@RISE, Univ. Aveiro, Aveiro, Portugal.
UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação E Inovação Em Saúde, Univ. Porto, Porto, Portugal.
J Community Genet. 2022 Jul 18:1-3. doi: 10.1007/s12687-022-00602-2.
This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care providers. Main findings highlighted the key role played by the local association in psychosocial and healthcare for MJD patients and families, and the adverse effects on their care following the onset of the COVID-19 pandemic. In particular, hindered access to the day-care centre increased isolation and had a negative impact on mental health and disease progression. For persons with a progressive and severe neurological disease, there is no "back to normal." Future restrictive measures ensuing need to be accompanied by a careful definition of daily care routines for patients.
