0345/2023 - Therapeutic itineraries of patients with rare diseases
Itinerários terapêuticos de pacientes com doenças raras
Publicado
Author:
• Maria Beatriz Andrade Fontoura de Carvalho - Carvalho, M. B. A. F. - <maria.fontoura@fiocruz.br>ORCID: https://orcid.org/0000-0002-4155-8823
Co-author(s):
• Juan Clinton Llerena Junior - Llerena Junior, J. C. - <juan.llerena@fiocruz.br>ORCID: https://orcid.org/0000-0002-4308-3841
Abstract:
This study sought to understand the experiences of patients with rare diseases based on the reconstruction of therapeutic itineraries, obtained between 2021 and 2022 and analyzed using thematic analysis.Patterns of common experiences in coping with rare illnesses 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. However, arrival at the rare referral service reveals a new meaning, based on trust in therapeutic relationships and diagnostic chances.
It was found that the reference service lacks and lacks 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 responsibil-ity for daily therapeutic activities and managing their children. The strengthening of the role of primary care in timely referral and coordination of care in the care network is reaffirmed, promoting equal access and alleviating the burden of management borne by families, which goes beyond and overloads their journey, especially those women, who also need care and psychological support and are already sufferingtheir own history.
