From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal

Abstract

Background Neurofibromatosis type 1 is a systemic genetic disease with manifestations that include neurocognitive alterations. The disease's characteristics influence various areas of the lives of affected individuals, regardless of their place of residence. Objectives This study compares the experiences of a small group of patients with type 1 neurofibromatosis in two public hospitals in Brazil and Portugal. Methods This is an exploratory, cross-sectional, and descriptive study. Patients of legal age or those responsible for underage patients were included in a health service in the Clinical Hospital of the State University of Campinas in Brazil and the Clinical Academic Center of Coimbra in Portugal. They answered an online form about quality of life and access to health. Results 18 participants were included, 13 Brazilians and 5 Portuguese. Most were female and had a mean age at diagnosis of 8.2-years. The mean age of Brazilians was 9.1-years for the first consultation with a geneticist and 15.5-years among Portuguese. The average number of professionals accessed was 4.5 among Brazilians and 3.8 among Portuguese. Limitations Small sample size, restricted temporal aspect, convenience bias of participants with internet access, and self-declaration of data by participants. Conclusions Both Brazilians and Portuguese participants with neurofibromatosis type 1 presented similar difficulties regarding access to health. The differences found between the participants from both countries focus on access to medical geneticists and their health literacy. Expanding studies would help identify care priorities related to the specificities of NF1 that could improve the quality of life of affected individuals.