Understanding barriers to quality healthcare in rare diseases

Objectives We 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. Methods Semi-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. Results Twelve 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. Discussion There is a clear and pressing need to improve the quality of care for people living with rare diseases, in alignment with major clinical recommendations.