Authors
Ariane Quintal, Élissa Hotte, Annie-Danielle Grenier, Caroline Hébert, Isabelle Carreau, Yves Berthiaume, Eric Racine
Published in
Chronic illness. Pages 17423953261491392. Oct 09, 2026. Epub Oct 09, 2026.
Abstract
ObjectivesWe aimed to (1) understand barriers to quality healthcare and services in the context of rare diseases and (2) identify the multifaceted impacts of these barriers on rare disease patients.MethodsSemi-structured interviews exploring barriers to optimal rare disease care, the impacts of these barriers, empowerment strategies used, and recommendations. The Ten New Rules to Redesign and Improve Care Framework proposed by the Committee on Quality of Health Care in America of the US Institute of Medicine (2001) guided content analysis.ResultsTwelve individuals living with different rare diseases were interviewed. Numerous pertinent barriers were reported. For example, 'care based on continuous healing relationships' (rule 1) is impacted by very long delays in obtaining diagnoses. Patient abandonment and lack of follow-up are also experienced because of the perplexing nature of rare diseases. Regarding 'the patient as the source of control' (rule 3), the rationality of patients is questioned, including claims of malingering and misunderstandings about their unusual experiences. These barriers have multifaceted impacts such as strong negative affect and estrangement from mainstream healthcare.DiscussionThere is a clear and pressing need to improve the quality of care for people living with rare diseases, in alignment with major clinical recommendations.
PMID:
42852871
Bibliographic data and abstract were imported from PubMed on 09 Oct 2026.
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