From the rare to the essential: analyzing the needs of physicians and families managing rare diseases.

ABSTRACT:

Background

This study aims to identify the social and healthcare needs of patients with rare diseases (RD) and their physicians within a Universal Health Care System. It seeks to provide valuable insights for policymakers, patient organizations, and healthcare professionals while informing about these diseases, raising awareness, and designing strategies to improve access to quality, timely medical care, including therapies and medication at a local and regional level.

Methods

Two semi-structured surveys were conducted between May 2023 and August 2024, targeting family members of patients with RD (N = 64) and physicians (N = 56) in Uruguay. Surveys were self-administered via email or conducted by an interviewer, and were disseminated through healthcare professionals, RD asso

SUBMITTER: Mussio I 

PROVIDER: S-EPMC12911332 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature