Reception held at Senedd to mark Rare Disease Day 2014

A reception was held at the Senedd in Cardiff Bay last night to mark Rare Disease Day 2014 in Wales. The event was hosted by Rebecca Evans AM, and attended by a range of stakeholders including service-users and their families and carers, healthcare professionals, service planners and commissioners, academics, educators, charity organisations and government representatives. The focus of the event was on raising awareness of the UK strategy for Rare Disease, which was launched by the UK Government in November 2013 and, specifically, on highlighting the importance of its implementation in Wales and throughout the UK.

Alastair Kent OBE, Chair of Rare Disease UK and Director of Genetic Alliance UK, began the talks by giving a historical perspective on the rare disease plan and providing an overview of the plan itself, which includes 51 commitments around the provision of healthcare to patients and families with rare diseases, and the services, products and research and development relating to rare disease in the UK. Highlighting the need for both cross-party and cross-boundary collaboration, Alastair also noted that producing a UK-wide strategy for Rare Disease marks the first time that the four governments of the UK have produced a document that all four health ministers from the home nations have signed up to.

IMGP8351 compressed Alastair Kent, OBE; Chair of Rare Disease UK

Dr Chris Jones, Deputy Chief Medical Officer for the Welsh Government, provided an insight into how the plan was developed in Wales, and affirmed the welsh government’s commitment to implementing the plan in order to improve the situation for patients and families with rare conditions in Wales, and also for the clinical community delivering their care. Once endorsed by the Health Minister, the plan will be published and a delivery group established to oversee its implementation.

The final talk of the evening was given by Mrs Marie James, the mother of an adult son with the rare condition tuberous sclerosis, and trustee of the Tuberous Sclerosis Association. Marie provided a powerful account of the impact tuberous sclerosis has on her son and family, and talked of some of the challenges encountered by those affected by rare conditions and her hopes for the UK strategy for Rare Disease. Speaking of ‘services that are meant to serve all’, she described the need for equity of access to services across the UK; a holistic clinical oversight for rare disease patients; the priorities of families to be recognised; and access to orphan and ultra-orphan medicines for rare diseases.

About rare diseases:
• Estimated that there are over 6000 rare diseases affecting 3.5 million people in the UK at some point in their lives
• In Europe, a rare disease is defined as a disease affecting fewer than 5 in 10,000 of the general population
• In Europe, there are an estimated 25 -30 million people with a rare disease (approx. 6-8% of the population)
• Approximately 5 new rare diseases are described in medical literature each week
• 80% of rare diseases have identified genetic origins
• Rare Disease Day takes place on the 29th February (a rare day). When it is not a leap year, rare disease day is marked on 28th February.

To find out more about rare diseases, and the work of Rare Disease UK, visit their website.

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