Improving Access to Specialised Services and Therapies for Welsh Rare Disease Patients


The AKU Society and Genetic Alliance UK are hosting an event at the Welsh Assembly to raise awareness of the benefits to patients with rare diseases of gaining timely access to specialised services and therapies. The event will be held on 22nd January 2015 at The Senedd, in Cardiff Bay, and is sponsored by Lindsay Whittle AM.

The Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. They are an alliance of over 180 patient organisations.

Due to differences in funding of services in NHS Wales, it can be difficult for rare disease patients in Wales to gain timely and effective access to the right specialised services and treatments. Genetic Alliance UK has received several anecdotes from individuals and patient groups who state their difficulties in accessing specialised services and therapies, despite clinical need. Alastair Kent OBE, Director of Genetic Alliance UK will be launching a report at the event which includes recommendations about how access to specialised services and therapies can be improved for Welsh patients.

AKU patients living in the UK often struggle to receive treatment for the disease locally due to the rarity of the disease. The Robert Gregory National Alkaptonuria Centre at the Royal Liverpool University Hospital was set up to ensure AKU patients from around the UK can receive the treatment they need. AKU patients visit the centre annually and have a wide range of tests to see how the disease is progressing. At the centre patients also receive nitisinone, a drug used to treat the disease. AKU Society has had considerable difficulties in ensuring Welsh patients are able to visit the Centre at Liverpool, or receive nitisinone.

Alongside assembly members, a number of rare disease organisations, medical professionals and representatives from local health boards will be in attendance.

Event Programme

11.00 – 11.15  Welcome & Introduction:
     Lindsay Whittle, Assembly Member

11.15 – 11.30  Accessing specialised services and therapies for patients with rare diseases:  
                                 Alastair Kent OBE, Genetic Alliance UK / Rare Disease UK

11.30 – 12.00   The role of WHSSC in Wales:  
                                  Geoffrey Carroll, Medical Director WHSSC

12.00 – 12.15  Example of a national service and the impact for Welsh patients:  
                                  Prof Ranganath, Consultant Chemical Pathologist

12.15 – 12.45   The patient perspective:  
                                  Welsh rare disease patients

12.45 – 13.00    Q & A session

13.00 – 14.00   Lunch and networking (a light buffet lunch will be provided)

How to register
To register for the event, please email [email protected]  with your name, contact email, the number of people (if any) that will be accompanying you to the event and if relevant, what organisation you are attending from. Please register you details January 15th 2015. For further information, please contact [email protected].

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