Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals.

Objectives: The aim of this study is to present a survey of vulnerabilities and to suggest approaches for the treatment of rare diseases according to the perceptions of a group of affected individuals, patient association representatives and health care professionals.

Methods: The focus group technique was used in interviews with patients and primary caregivers, patient support groups/non-governmental organizations, primary health care professionals and physician specialists.

Results: The transcript analysis focused on thematic units, which were tailored to each group and allowed comparisons in search of concordant views.