This month’s guest blog comes from Dr Jamie Duckers, a consultant in cystic fibrosis and respiratory medicine at Cardiff and Vale University Health Board. Here, he discusses recent Welsh government investment in ‘syndrome without a name’ (SWAN) clinics.
Individually they may be uncommon, but rare diseases affect one in 17 people in Wales. This equates to 175,000 people, or – putting it into perspective – the entire population of Wrexham, Barry and Llanelli combined. Often, those with rare diseases and their families and carers find themselves on a ‘diagnostic odyssey’ and many feel lost.
In working to address the top priorities of the UK Rare Disease Framework, the Welsh government has commissioned a 2-year pilot programme to establish SWAN clinics. These will be provided by Cardiff and Vale University Health Board and will work using genetic and other diagnostic approaches, and where possible will direct this information to improve treatment. The team will also include a nursing care coordinator aiming to help patients navigate the often multiple health professionals needed for their care.
There are both adult and paediatric SWAN clinics. The adult SWAN clinic is led by Professor Stephen Jolles and Dr Ian Tully (consultants in medical genetics at the All Wales Medical Genomics Service) and the paediatric SWAN by Dr Jennifer Evans and Dr Jennifer Gardner.
The Adult SWAN clinic is inviting referrals of adults who have the involvement of two or more systems from the following list: cardiology, respiratory, gastroenterology/hepatology, metabolic, endocrinology, nephrology, haematology, rheumatology, immunology, dermatology, growth disturbance, mental health or other; and who are suspected of having a unifying underlying diagnosis. Patients and their families should be informed of the referral, and the patient will remain in the care of the referring lead clinician.
The goal is to shorten the diagnostic journey, improve coordination of care and access to specialist care, and increase rare disease awareness among healthcare professionals.
Dr Jamie Duckers
Clinical lead for rare disease in Wales.
Consultant in cystic fibrosis and respiratory medicine.
Cardiff and Vale University Health Board.