Written Statement: Improving Care for People with Rare Conditions

Tomorrow is international Rare Disease Day. This is an opportunity to provide an update about progress in Wales to improve care and services for people with rare conditions.

Rare conditions can result in complex, long-term and sometimes life-shortening health challenges. Their effects extend beyond individuals to families and the people who support them. It is estimated there are more than 7,000 rare conditions, with new diseases continually being identified as science advances. Although individually they are rare, collectively they are common, with one in 17 people affected at some point in their lifetime.  

The UK Rare Diseases Framework has created a set of shared priorities across the four UK nations, focused on helping people receive a final diagnosis faster, increasing awareness of rare conditions among healthcare professionals, better co-ordination of care, and improving access to specialist care, treatment, and medication. In Wales, the framework is delivered through the Wales Rare Disease Action Plan, by the Rare Disease Implementation Network, which is part of NHS Performance and Improvement.

The network published its latest progress report this week. It continues to make progress including:

• Commissioning the UK’s first SWAN (Syndrome Without A Name) clinic to improve pathways for people living with rare, undiagnosed conditions in Wales.
• Supporting Cardiff and Vale University Health Board to create a digital Rare Care Centre, which will act as a central resource for information, guidance, training and support. This work is focused initially on South East Wales but the aim is to expand it throughout Wales. 
• Development of a rare disease data dashboard to visualise the healthcare journeys of people with rare conditions who access hospital-based care.
• Strengthening the Wales Rare Disease Research Network to support person-centred research in Wales.

The UK Rare Diseases Framework was due to expire in January 2026 but Ministers from the four UK governments have agreed to a 12-month extension. This will allow the NHS to consolidate progress and deliver against any outstanding actions, while providing further time to consider the future of UK-wide rare disease policy. 

We are committed to delivering the priorities of the framework and will continue to support the network in delivering the Wales Rare Disease Action Plan.