For Welsh patients with rare diseases, accessing treatment is a challenge. The application process can be complicated, and, in the case of our patients, access to full treatment is not always granted. Last week we hosted a lobby event in partnership with Genetic Alliance UK at the Welsh Assembly in Cardiff to try to change this.

Opening a Dialogue

The aim of the day was to open up a dialogue around ‘Improving Access to Specialised Services and Therapies for Welsh Rare Disease Patients’. Throughout the day we heard from a variety of speakers, both politicians and patients, giving us a good platform for discussion and debate.

In his opening talk, assembly member, Lindsay Whittle, highlighted the need to review appraisal routes for medicines in Wales to ensure equitable access for all patients in the future. He explained how our event was an important first step to getting this issue on to the political agenda.

Recommendations for Change

Speaking on behalf of Genetic Alliance UK was their Director, Alastair Kent. He spoke of the current pressures on the NHS, and the need to use resources sensibly to improve services for rare disease patients.

Genetic Alliance UK used the event to launch a report giving recommendations on how to improve access to specialised services and treatments for welsh patients. The report criticises the NHS, saying “The evidence indicates an acute failure by the NHS to ensure that patients in Wales receive equitable access to specialised services and therapies based on clinical need.”

The Approval Process

The Welsh Health Specialised Services Committee (WHSSC) are responsible for referring and funding patients to attend specialised services not available locally in Wales. Dr Geoffrey Carroll, Medical Director of the WHSSC, explained the process of commissioning for rare diseases, allowing us to understand the complex approval process much better.

He admitted the approval process can be harsh, with cost benefit evaluations making it difficult for more expensive drugs to be approved. He spoke about the need to improve the links between local care, and specialised services to improve general care for patients in Wales.

The Value of Specialised Services

However, to patients these treatments mean so much more than money. They can be life changing, and even lifesaving. Prof. Ranganath took to the stage to explain the value of the specialised service he runs: the National Alkaptonuria Centre (NAC).

This centre in Liverpool is the only place for AKU patients to receive comprehensive care and monitoring for their disease. Patients also receive an off label drug called nitisinone. Prof. Ranganath presented evidence gathered from the centre about improvements seen in patients thanks to this drug.

A Patient Perspective

The most important speakers of the day were of course the patients. We heard from two patients with AKU who both had long and difficult journeys to diagnosis. However, after they were eventually diagnosed their stories became quite different. Tony Esmond is from Wales. He spoke of his fight to attend the NAC, and his disappointment when he was allowed to attend, but could not receive nitisinone. He argued, “I feel angry and frustrated because we speak of a National Health Service. It’s not.”

Ann Kerrigan lives just over the border from Wales in Bristol, and yet she is able to access full treatment at the centre. Ann spoke of how valuable this has been to her, and the difference the drug has made to her quality of life. It was very moving to hear her speak of the unfair situation for Welsh patients.

For patients with other diseases in Wales, the situation is just as difficult. Alan Thomas has Ataxia, and spoke of his 10-hour round trip to Sheffield for care. He has to make this journey frequently, even for short 15 minute appointments.

Marie James has a son with tuberous sclerosis complex (TSC). With no TSC specialist in Wales it has been hard for her to receive specialised help for her son. She spoke of their struggle for care at every stage, and how her son currently relies on a drug company to provide treatment on compassionate grounds, as the WHSSC will not fund its use. This causes great stress for patients and carers, as there is a high level of uncertainty surrounding treatment provision.

The Future

It is clear funding priorities need to be reassessed, not only in Wales, but across the whole NHS, so patients with rare diseases get access to the same level of care as everyone else, no matter where they live. This event has opened up discussions, and put the issue firmly on the political agenda.

With an election fast approaching it is even more important to make it clear to politicians that rare diseases matter to us. In the near future we hope the recommendations made by the Genetic Alliance UK report will start to be implemented, giving fair healthcare access to all.