Blog via Findacure - Improving Access to Specialised Services and Therapies for Welsh Patients

Improving Access to Specialised Services and Therapies for Welsh Patients

On January 22nd, the Findacure team went to Cardiff for a joint event from the AKU Society and Genetic Alliance UK on the subject of ‘Improving access to specialised services and therapies for Welsh rare disease patients.’ This was in conjunction with the report launched by Genetic Alliance UK, which calls for NHS Wales to make better provisions for rare disease patients to receive equitable and timely access to the specialised advice, services and therapies that they need. Currently, access to specialised treatment is something of a ‘postcode lottery’ – Alan Thomas, a Welsh Ataxia patient, spoke of having to travel 258 miles to his nearest specialist centre in Sheffield, for example.

We heard from the perspectives of four patients throughout the day. A key theme was the need for patients to be key stakeholders in the development of these services. Marie James, the mother of a patient with tuberous sclerosis complex (TSC) drove this point home, saying that “Discussions of opportunities to be involved in research should form part of a care plan for all rare disease patients.”

Tony Esmond and Ann Kerrigan, who have alkaptonuria (AKU), both spoke of the difficulty they encountered getting a diagnosis. Ann said she found the process “frustrating… I was made to feel I was a hypochondriac, like I was imagining things.”

Similarly, Tony was only able to get a diagnosis when he paid privately, and could not receive funding to try the drug Nitisinone because he lived in Wales. On this, he said, “I feel angry and frustrated, because we say we have a National Health Service, but we don’t. We have an English service, a Scottish service and a Welsh service.”

We also heard from Lindsay Whittle, a member of the Welsh Assembly and a keen advocate for Disability and Illness. He said there is a need to fix diagnostic procedures on a national level, and called for a national panel to access individual treatment funding plans. The Welsh government was the first to respond to the UK strategy for Rare Diseases, and they are now on the political agenda but this needs to be pushed forward.

Alistair Kent, Director of Genetic Alliance UK, spoke of the need to quash the idea that rare diseases are unimportant, saying “We need to recognise is that they are not an insignificant problem… they affect 1 in 17 people.” In Wales, this amounts to about 175,000 people – the population of a small city.

It is clear that there is a huge unmet need for appropriate care, research and treatment of rare diseases, but these services are so essential; not just for the 1 in 17 living with them, but for how fundamental they are in understanding common conditions. It is vital that rare diseases are kept on the political agenda, so that we can achieve fair treatment for patients in Wales and across the UK.


Lindsay Whittle, member of the Welsh Assembly, speaking on Welsh access to specialised services for rare diseases.