Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study.

ABSTRACT: Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens. These challenges significantly impact people's quality of life, yet they remain obscure and have not been the subject of comprehensive analysis. Thus, we conducted qualitative interviews with Canadian patients and caregivers living with LSDs to advance current understanding of their experiences with rare-disease (RD) management and health systems navigation to support patient-focused RD policies and programs and improve the health outcomes of the 2.8 million Canadians affected by RDs. This study employed a qualitati

SUBMITTER: Awada N 

PROVIDER: S-EPMC10910218 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature