Written Statement: Improving services for people with rare diseases in Wales

Today is international Rare Disease Day. This statement provides an update about the progress being made to improve services for people living with rare diseases in Wales.

A rare disease is defined as a condition, which affects fewer than one in 2,000 people. It is currently estimated there are more than 7,000 rare diseases, with new conditions being identified as research continues. Although rare diseases are individually rare, they are collectively common, with one in 17 people being affected by a rare disease at some point in their lives.

People with a rare disease and their families can face a lifetime of complex care and it can also have a huge impact on someone’s education, financial stability, mobility, and mental health.

The Wales Rare Disease Action plan was published last June. It sets out a clear framework for improving services and highlights the significant progress we have made within services. It describes how we will deliver the key priorities in the UK Rare Diseases Framework, published in 2021, and creates a vision for the future to address health inequalities, improve the quality and availability of care, and improve the lives of people living with rare diseases.

Our New Treatment Fund, which was introduced in 2017, has sped up access to new and innovative treatments for many rare diseases, including cystic fibrosis, Fabry disease, Gaucher disease and Batten disease.

The Genomics Precision Medicine Strategy for Wales was published in July 2017. This was followed by significant investment, which allowed expansion of testing by the All Wales Medical Genomics Service (AWMGS) and the ongoing success of the Wales Infant and Children’s Genome Service (WINGS) project.

We published the new Genomics Delivery Plan for Wales in December, which builds on the work of the first genomics strategy and ensures that Wales can deliver our vision of working together to harness the potential of genomics to improve the health, wellbeing and prosperity of the people of Wales. It focuses on four priority areas:

• Helping people get faster diagnosis,
• Improving awareness amongst health professionals,
• Better care co-ordination
• Improving access to specialist care, treatments and medicines.

Wales is the first UK nation to offer genome genetic testing to very ill children and is the first nation to appoint a national clinical lead and an NHS programme manager to support the implementation of the Welsh plan.

I am pleased we were able to identify funding to establish a Syndrome Without a Name (SWAN) clinic in Cardiff, which sees people from across Wales. It brings hope and reassurance to families, offering access to specialists and cutting-edge investigation. The clinic also gives families an opportunity to connect with other families who understand the unique challenges they face.

Every GP surgery in Wales could have up to 450 people with a rare disease on their patient list. The Rare Disease Implementation Group are collaborating with HEIW and Medics 4 Rare Disease to run a webinar for primary care on 2 March, to help GPs to improve their confidence in supporting people with rare diseases.

I’m also pleased to announce the development of Care and respond, a new app centred on building strong informed networks around an individual. Users can share their health profile – called a passport – with others, including the emergency services and are able to set up a local support group who can help them in an emergency. The passport can be securely shared with health services by the user, raising awareness of medical conditions that may be rare or complex and often time-critical to support clinical decision making. The app has been developed in Wales by Science and Engineering Applications Ltd in collaboration with various patient groups and the NHS, with grant funding from the Welsh Government. This is an example of what can be achieved through the collaboration we call for in our new Innovation strategy, Wales Innovates, launched yesterday. 

Research into rare diseases is critical to speed up diagnosis and improve treatments and care. It can provide valuable insights into the causes and progression, not only of the diseases themselves, but of more common conditions. A programme of work is being undertaken through Health and Care Research Wales with UK partners to create a more efficient research delivery; more diverse and accessible research and to embed research into the NHS: UK Government sets out bold vision for the future of clinical research delivery | Health Care Research Wales

I’m very grateful for the commitment of everyone involved in improving services and for the support provided to all those with rare disease in Wales.

To recognise the need to raise awareness of rare diseases, we have joined the global chain of lights and the Welsh Government’s Cathays Park building will be lit up this evening #LightUpForRare.