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Rare diseases: diagnostic and therapeutic journey of the families of affected people



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”; “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.

Key words: Public health nursing; Pediatric nursing; Maternal-child nursing; Rare diseases; Health services