Neurofibromatose: mapeamento de associações, instituições e serviços existentes no Brasil

Abstract

Introduction: Rare Diseases (RD) are so called because they can present a variety of clinical manifestations and vary not only in type, but also from person to person. Neurofibromatosis (NF) is among them; also known as Von Recklinghausen's disease, a genetic disorder that can affect multiple systems in individuals. Therefore, it is important to study it to offer appropriate treatment as well as follow-up to the population affected. Objectives: To identify and map existing supporting institutions for patients with Neurofibromatosis and their families in Brazil. Method: This is a descriptive, exploratory, cross-sectional study with qualitative and quantitative data analysis. The institutions surveyed were identified and included through Internet search engine results, using the "Snowball" technique in which respondents pointed out other research sites. Of the 143 organizations identified; 10 were selected and took part in the research, comprising the study sample. After consenting to and accepting the Free and Informed Consent Form (FICF), the representatives of the institutions filled in the semi-directed, self-answered questionnaire drawn up by the authors and sent by e-mail. Data collected was tabulated using simple descriptive statistics (frequencies, means, medians and standard deviations) and, qualitatively, by semantic groupings of coinciding answers, analyzed by interdependent judges (author and advisor), according to the related literature. Results and Discussions: The institutions have presented themselves in different ways of physical and human infrastructure, as well as in terms of the activities carried out to assist patients and their families. For most of the organizations, the services provided are mainly focused on diagnosis and clinical treatment of users, and the number of services is below the needs of the current demand. Conclusion: Data made it possible to understand the functioning and main characteristics of the institutions evaluated and indicated the need to encourage public and private measures and policies to foster and support them, as well as more comprehensive research, to determine the real challenges faced by Brazilian institutions/services for patients and families with Neurofibromatosis.