Rare diseases: diagnostic and therapeutic journey of the families of affected people/ Doenças raras: itinerário diagnóstico e terapêutico das famílias de pessoas afetadas

• Published in: Acta paulista de enfermagem Vol. 28; no. 5; p. 395
• Main Authors: Luz, Geisa dos Santos, da Silva, Mara Regina Santos, DeMontigny, Francine
• Format: Journal Article
• Language: English
• Published: Sao Paulo Universidade Federal de São Paulo, Escola Paulista de Enfermagem 01.09.2015
• Subjects: Content analysis
• ISSN: 0103-2100; 1982-0194

This paper aims to characterize the diagnostic and therapeutic journey of families of people with rare diseases within the network of Brazilian public services. This was a qualitative research project. The bio-ecological theory of human development, by Urie Bronfenbrenner, was used to understand the data. The research instrument was a semi-structured interview, and data were analyzed using the content analysis method. Three central themes were grouped: Journey of families in search of a diagnosis; Journey of families after the diagnosis of the disease; and, Journey of therapeutic maintenance. The access to specialized services enabled diagnosing of the rare disease. The treatment was a challenge, because there were few drugs available within the therapeutic options for these diseases. Legal recourse was essential for therapeutic access and maintenance.