[Therapeutic itineraries of patients with rare diseases].

Abstract

The scope of this study was to understand the experiences of patients with rare diseases based on the reconstruction of therapeutic itineraries, obtained between 2021 and 2022 using thematic analysis. Common experiences in coping with rare diseases were observed, similar to those referred to globally, perpetuating the vicious circle between specialties, obtaining a diagnosis, post-diagnostic therapies, lack of qualified information and dissemination of knowledge. Arrival at the rare disease reference service revealed a new meaning, based on trust in therapeutic relationships and diagnostic chances, however there was an absence and discontinuity in the provision of some specialties and multidisciplinary therapies. on a continuous basis, providing opportunities in an equal manner. In addition to the need for coordination of care, it was evident that the responsibility for coping with illness is primarily exercised by women, who assume responsibility for the daily therapeutic activities and care of their children. The role of primary care in timely referral and coordination of care in the care network was reaffirmed, promoting equal access and alleviating the burden of management borne by families, which goes beyond and overloads their journey, especially for women.