Background and Objectives: Rare diseases (RD) are a group of highly heterogeneous disorders defined according to incidence. Given their rarity and complex manifestations, the experiences of patients and families with RD are unique. Research on patients´ therapeutic trajectories is essential to improve health care, yet studies on RD are limited and diverse. Our objective was to develop a narrative synthesis of scientific evidence to know the evidence available in the literature on therapeutic trajectories of patients with rare diseases to contribute as input to creating proposals in the context of the national plan and the national laws. Method(s) and Results: We conducted a narrative literature review. The search was performed in PubMed (2021), including studies with trajectories of RD patient and their families or caregivers, without filters. We identified six main themes: diagnosis, treatment, cost, quality of life, key informant,
and technology contributions. Conclusions: Findings from this narrative review suggest that understanding patients’ and families’ therapeutic trajectories could help recognize effective time-to-diagnosis, treatments, and the responsiveness of healthcare systems
at the point of care. The research and policy agenda must include the perspective of patients and families with RD.
Keywords:
Therapeutic Trajectories, Rare diseases, Patient Experience, Odysseys, health access
Author Biographies
Carla Campaña, Universidad del Desarrollo. Facultad de Medicina. Clínica Alemana
Báltica Cabieses, Universidad del Desarrollo. Facultad de Medicina. Clínica Alemana
Universidad del Desarrollo. Programa de Estudios Sociales en Salud.
Campaña, C., & Cabieses, B. (2023). Rare diseases and therapeutic patient trajectories: what do we know today?. Revista Chilena De Salud Pública, 26(2), p. 225–237. https://doi.org/10.5354/0719-5281.2022.71240
