Jeremy Miles MS, Cabinet Secretary for Health and Social Care
To mark international Rare Disease Day, I am providing an update about the progress being made by the NHS Executive and partners in improving services and care for people with rare diseases.
Rare diseases can be debilitating, life-limiting and life-threatening. They have a profound impact on people’s lives, as well as the lives of those close to them. It is estimated there are more than 7,000 rare diseases, with new conditions continually being identified as research and technology advances.
About 80% of rare diseases have an identified genetic origin and although individually rare, one in 17 people will be affected by a rare disease at some point in their lifetime. This equates to roughly 170,000 people in Wales.
Wales is committed to working with the rest of the UK to deliver the ambitions set out in the UK Rare Diseases Framework. Priorities include helping people get a final diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better co-ordination of care, and improving access to specialist care, treatment and medication.
The Wales Rare Disease Action Plan outlines our approach to achieving these aims. It is co-ordinated by the Rare Disease Implementation Network – part of the NHS Executive – and sets out the changes we will make to improve outcomes and experiences for people with rare diseases.
The network published its latest progress report last month. Through collaborative working with key delivery partners, continued progress has been made over the last 12 months. Key achievements include launching a Wales Rare Disease Research Network, beginning the development work for community health pathways for several rare diseases, as well as supporting Cardiff and Vale University Health Board to achieve Bevan Commission Exemplar Programme support and agreeing the information governance arrangements for a Wales Digital Rare Care Centre.
These are the foundations for continued improvements in our understanding of rare diseases and the care and support provided by the NHS. Over the next 12 months, the key areas of focus will include continuing to deliver workstreams around improved data, surveillance and research.
I am grateful for the ongoing commitment of all partners and stakeholders involved in delivering the action plan. We will continue to support the network as it strives to improve services for people with rare diseases in Wales.