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The University Hospital of Wales has opened the UK’s first clinic for people living with rare and undiagnosed diseases.
Commissioned by the Welsh Health Specialized Services Committee (WHSSC) and funded by the Welsh Government, the first SWAN (unnamed syndrome) clinic will help children and adults with rare diseases across Wales.
Although these conditions are rare individually, collectively around 1 in 17 people will be affected by them at some point in their life, which equates to around 175,000 people across Wales.
There are thousands of known rare diseases that affect both children and adults, but some are so rare and difficult to diagnose that they are known as ‘no name syndrome’ or SWAN.
Rare diseases affect children disproportionately and 30% of children with a rare disease will die before their fifth birthday.
Many rare diseases affect multiple systems in the body, and families describe a “diagnostic odyssey” of seeing many different specialists while traveling before a diagnosis is made.
The SWAN Clinic will provide a one stop shop to circumvent this.
Lynne Hughes, from Pontyclun, Rhondda Cynon Taf, experienced the emotional and physical challenges faced by patients living with ‘unnamed syndrome’ and their families.
Her daughter Amy Hughes died in 2020 when she was just 32.
Amy had learning difficulties and suffered from multiple complex issues throughout her life, but medical professionals were unable to diagnose her condition.
Lynne’s son Michael, 36, is now in the care of the SWAN Clinic, having developed some of the same symptoms as Amy.
Lynne said: ‘Amy started getting sick when she was three years old and throughout her life we couldn’t get an answer. Sometimes we were given answers to only part of the problem, but we never really knew why it was happening.
“Despite all her problems, she took it all in stride and never asked what was wrong with her. She wasn’t very independent and relied on me for everything, especially towards the end, but she just accepted it.
“She passed away in November 2020, very soon after we found out she had a brain tumour. I don’t know if having a diagnosis would have changed but it would be nice to be able to put a name to it and finally know what the problem really was.
Amy’s DNA has been stored and will be reviewed and retested in hopes it can help others living with undiagnosed conditions.
Michael has also undergone further genetic testing and although no diagnosis has yet been made, Lynne hopes the service can provide answers.
Speaking of Michael, Lynne said: ‘It wasn’t until about three and a half years ago when he suffered a serious infection and developed sepsis that he started feeling unwell and developing some same symptoms as Amy.
“Fortunately, he is not as sick as she was, but I don’t know if he will continue to be sicker. The SWAN clinic gives me hope that we will find out what was wrong with him. Amy and what is causing Michael’s problems.
After securing £430,000 in funding from the Welsh Government, the SWAN Clinic will initially operate as a pilot project for two years and aims to shorten the time patients wait for a diagnosis, improve medical knowledge and foster research.
Dr Graham Shortland OBE, Clinical Manager at the SWAN Clinic, said: “Rare diseases are a significant health issue that is unfortunately associated with poor outcomes. The impact on patients and their families is considerable, with the majority of patients who receive a diagnosis waiting an average of four years.
“A diagnosis brings hope and comfort to families and the goal of the SWAN Clinic is to shorten the diagnostic journey, improve access to specialist care and support those who continue to wait for a diagnosis.”
The launch of the SWAN Clinic coincided with the launch of Wales’ Rare Disease Action Plan by the Rare Diseases Implementation Group (RDIG).
Professor Iolo Doull, Chairman of RDIG, said: “The Wales Rare Disease Plan aims to improve care for all people with rare diseases by helping patients and families get to a final diagnosis faster.
“Many patients have complex needs and the plan suggests ways to improve coordination of care. This will lead to better access to specialist care, including new treatments and medicines. We need to increase awareness of rare diseases among all health professionals. The SWAN Clinic is an important part of this larger overall plan.
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