On Monday, our Chairman, Nick Sireau, attended the Annual General Meeting for Rare Disease UK.

Rare Disease UK is a membership group for rare disease charities. AKU Society is a member, which allows us to help guide Rare Disease UK’s work in lobbying the UK Government for better rare disease services. One of the big issues they’re addressing at the moment is the commissioning of Specialised Services, such at the National AKU Centre.

The AKU Society is a member of several groups looking to inform the commissioning of Specialised Services. These include the SHCA (Specialist Healthcare Alliance), the lobbying arm of ARMA (Arthritis and Musculoskeletal Alliance) and the Patient Empowerment Group at Rare Disease UK.

Specialised Services are typically used for the treatment of rare diseases, but also for some unusual injuries (for example, for serious burns). NHS England is the sole commissioner for all specialised services across the UK, with an annual budget of almost £14 billion (about 14% of the NHS total spend per year). Once commissioned, Specialised Services are run by an expert team of medical staff at centres around the UK.

However, there are some issues. In the AKU world, we’re lucky to have a commissioned centre: the NAC based at the Royal Liverpool University Hospital. For many rare diseases, there are no centres, the issue being that they rely upon a dedicated, expert team with the ability to set up a centre in the first place.

The second issue is that Specialised Services are commissioned by NHS England. This means patients in Wales, Scotland and Northern Ireland are not automatically eligible for treatment and must wait for a decision by their home governments. At the NAC, Scottish and English patients can attend and receive a full service. Welsh patients can attend, but have to go through a complicated application process to do so, and even then, they do not receive nitisinone. It is still unclear whether Irish patients can attend at all.

Access to the NAC is a key concern for us. When the NAC launched in 2012 we expected all patients in the UK to be able to benefit, so have campaigned for the full inclusion of Welsh and Irish patients. Tomorrow, alongside Genetic Alliance UK, we will host an event at the Welsh Assembly on Improving Access to Specialised Services and Therapies for Welsh Rare Disease Patients. Wish us luck and look out for more updates on this event in next week’s blog.