A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Abstract

The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national and international EDS charities, and together they participate in working and strategy groups alongside patients and carers. Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As a result of being a highly specialised service, there are multiple points of contact with patients, providing frequent opportunities for feedback. Patient data, surveys and collaborative working have enabled the development not only of extensive information resources and self-advocacy tools for patients, but also guidelines for health care professionals on the best ways to support their rare disease patients. The main challenges faced by patients affected by rare disease and the importance of self-advocacy are discussed, with the highly specialised National EDS service and the patients seen in this service as an example. The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities. The service aims to be an example of patient-centred innovation and progress, providing a patient-focused supportive model that can be adapted by the rare disease community and other health care professionals.