Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products

Background:The SWAN Clinic is the only commissioned type of clinic of its kind within the UK.Currently, when a child or adult has exhausted all routine NHS testing routes, they remain without a diagnosis.The SWAN Clinic offers our Welsh resident population, with a suspected rare disease an alternative pathway for diagnosis.Results: Over two years (2022-2024) 70 paediatric patients and 80 adult patients suspected of having a rare disease have been referred.A diagnosis has been provided to 8% of all adult and paediatric patients seen by the clinic.In those patients who have completed investigation and been discharged, the diagnostic rate rises to 35%.The SWAN clinic has participated in a self-evaluation since with the collection of patient reported outcome measures (PROMs) and patient reported experience measures (PREMs), collected at a patient's preclinic visit, 6-months after their SWAN clinic appointment and at discharge.The PROM captures the patient/family's Self-Management Assessment Scale (SMASc) and their Perceived Personal Control.Through the care coordination provided by the SWAN Clinic model we have demonstrated an improvement in all 5 of the domains of the SMASc across a 6-month period.We have demonstrated a statistically significant reduction in secondary care healthcare utilisation.The general population in Wales will have an average of 1 contact day with secondary health care across a 6-month period (outpatient appointments, inpatient admission days and A&E attendances).When compared with the SWAN clinic population prior to first contact, this it is dramatically higher, an average of 18.After 6-months of being under the SWAN Clinic, this reduces to 8, demonstrating that our care model can reduce secondary healthcare utilisation by 56%.Conclusions: A new clinical approach for patients suspected of having a rare disease not yet diagnosed has been developed as a pilot project in Wales.Diagnoses have been made in previously undiagnosed patients which have resulted in important changes to care, including treatment, management and necessary referrals in a significant number of adult and paediatric patients.We have provided information, not previously available to families, enabling them to make reproductive choices.Through using PREMs, PROMS and patient interviews we have demonstrated improvements to patient experience particularly in care co-ordination.We have shown potential benefits to a reduction in healthcare utilisation as a consequence of this service.