, 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.
