Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study.

ABSTRACT:

Background

Rare diseases are conditions that have a low prevalence in the population and a high disease burden and are often chronic and progressive. International evidence concerning the experience of people and families living with rare diseases is scarce, leading to late and erroneous diagnoses, as well as non-specific treatments. This study explored the therapeutic trajectories of people and families living with rare diseases within Chile's public and private healthcare systems from the perspective of patients, caregivers, and medical teams, including the initial symptoms, first consultation, testing, diagnosis, treatment, and follow-up.

Methods

A qualitative exploratory study was conducted through multiple case studies. Sixty participants were interviewed in person and/

SUBMITTER: Cabieses B 

PROVIDER: S-EPMC11863834 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature