Date:11 February, 2014

Rare Disease Day, Wales

11th February 2014, The Senedd, Cardiff

The event was hosted by Rebecca Evans AM  and  the main focus was to outline the response to ‘The UK Strategy for Rare Diseases’ which was published November 2013 by the department of health. Mr Alaister Kent, Chair of RD UK and Director of Genetic Alliance UK , declared that there was political consensus over the 51 commitments listed in  the report. The need to recognise and share expertise across boundaries of the 4 constituent nations of the UK as well as across Europe was essential. The very best help for patients must be available to each family wherever they lived. Thus there should be the development of a Welsh Health plan for rare diseases. This would include methods to measure progress for the 51 commitments. The achievement of better services in terms of expertise and personnel was part of that work.

Dr Chris Jones, deputy Chief Medical officer, Welsh  Government , stated that the Rare Diseases Plan was to be considered on a par with  plans for other illnesses like cancer, diabetes and respiratory problems. A rare disease had the same status as any other illness. The profile of rare diseases was to be improved so that clinicians, GPs and support services would have a better understanding of the issues involved. The need for an annual report would promote accountability.  The complexity of helping patients from a large geographical area meant that excellent local support was essential. Some of the support may be non-devolved powers. Better services had to grow and the NHS Wales must change together with its partners in research, industry and civil service. These proposals would be sent to the minister in a ‘submission folder’ for his endorsement and the policy for NHS Wales would be published very shortly.

Another speaker, Marie James who is a Trustee of Tuberous Sclerosis Association, gave a personal account of her experiences of caring for a child with tuberous sclerosis for the last 27 years. This personal experience highlighted the issues raised in the RDUK report and was an outstanding example of the personal sacrifice and dedication of a carer and her family. RDUK has produced another report, Rare Disease Care Coordination (Delivering Value, Improving Services) which gives other case studies and argues the case for Care Coordinators.

We are looking forward to the publication of the NHS Wales policy document in the near future along with the policies of the other 3 nations.

Jeff Darkins