Rare diseases are a significant health problem often associated with poor outcomes. A rare disease is one that affects 1:2000 or fewer patients, affecting an estimated 150,000 people in Wales. Rare diseases have a considerable impact on patients and their families and present a range of challenges, including the time it takes to obtain a correct diagnosis, with patients waiting on average 5 years for their diagnosis.
Welsh Health Specialised Services Committee (WHSCC) recently commissioned a pilot of a Syndrome Without A Name (SWAN) Clinic in Wales. The service aims to improve care for patients with rare diseases by providing a diagnosis to patients who have so far been unable to receive one.
An evaluation of the pilot of the SWAN Clinic is being conducted by Cedar as part of their role within the Welsh Value in Health Centre (WViHC). The evaluation aims to assess the clinical effectiveness and value of the SWAN Clinic in terms of patient experience and outcomes. This will be achieved through patient surveys (including Patient Reported Outcomes Measures (PROMs) and Patient Reported Experience Measures (PREMs), and interviews with patients, their family members and carers, and staff.