The Syndrome Without A Name (SWAN) clinic - Results from an evaluation of a new rare disease clinic pilot in NHS Wales.

Rare diseases are often associated with a delayed diagnosis, poor outcomes, and fragmented care. It is estimated 170,000 people in Wales are living with a rare disease. The Syndrome Without A Name (SWAN) Clinic was established as the first service of its kind in the United Kingdom, to support patients with probable, undiagnosed rare diseases. Its objectives include reducing patients’ diagnostic odyssey, improving diagnostic rates, and enhancing care coordination. This pilot evaluation aimed to assess the impact the SWAN Clinic had on patient experiences and outcomes. Methods included patient-reported outcome measures (PROMs), patient-reported experience measures (PREMs), interviews with patients and their carers, and routinely collected clinical data. Results showed overwhelmingly positive user experience, particularly due to the clinic’s multidisciplinary and holistic approach. Non-significant improvements in self-management and perceived personal control were noted. Qualitative feedback indicated enhanced patient empowerment. To date, a diagnosis was achieved in 12.2% of adults, and 7.3% of paediatric patients referred to the clinic. However, among those who were reviewed and discharged, the combined diagnostic rate exceeds 61.0%. This suggests the clinic has the potential to meet its objectives. Beyond diagnosis, the SWAN Clinic improved treatment plans and provided reassurance to its users and has fostered international relationships and development. This evaluation demonstrated that the SWAN Clinic can provide more coordinated and patient-centred care than patients’ previous experiences of care.