Rare Disease Day 2023
28 February 2023
To celebrate Rare Disease Day 2023, Cardiff and the Vale University Health Board has taken a look at the progress made by those working to improve the lives of people living with rare diseases.
Rare Disease Day is a globally coordinated movement which raises awareness of the 300 million people living with rare disease around the world, along with their families and carers. A rare disease is defined as a condition that affects fewer than 2,000 people. More than 6,000 of these conditions have so far been identified with new conditions being acknowledged continuously as research becomes more advanced.
Across Wales — where it’s estimated that around 170, 000 people are affected by rare disease — extensive work is underway through the Wales Rare Diseases Action Plan to help deliver the aims of the UK Rare Diseases Framework. This is a collaborative effort between all four UK nations and looks to address health inequalities within the rare disease community to improve the quality and availability of care and the lives of those living with or caring for those who live with such conditions.
The latest development which forms part of this initiative is the launch of Welsh Government's Care & Respond App, which allows users to share their medical profile and highlight rare and complex medical conditions, both in the UK and when abroad.
The app has been developed in Wales with Welsh Government funding to support clinical decision making in cases of emergency and other time critical situations and will help raise the profile of rare genetic conditions and optimise communication and understanding for both users and health professionals.
Earlier this year, the Action Plan delivered on another of its aims with the introduction of the UK's first SWAN (Syndromes Without A Name) clinic, which opened at University Hospital of Wales.
Commissioned by Welsh Health Specialised Services Committee (WHSSC) and funded by Welsh Government, the SWAN Clinic has been established to improve pathways for people living with rare, undiagnosed conditions across Wales.
The SWAN clinic will initially run as a pilot for two years and aims to shorten the time patients wait for a diagnosis, improve medical knowledge and foster research. You can read more about the SWAN clinic here.
Speaking of the SWAN Clinic, the Minister for Health and Social Services, Eluned Morgan, said: “The SWAN clinic brings hope and reassurance to families, offering a ‘one stop shop’ with access to specialists and cutting-edge investigations. This is a huge step to shortening the time people are living with an undiagnosed disease.”
Wales were the first UK nation to offer whole genome testing to very ill children and the first nation to appoint a national clinical lead and an NHS programme manager to support the implementation of the Rare Diseases Action Plan.
Rhiannon Edwards- Neurological and Rare Diseases Implementation Groups Coordinator, NHS Wales Health Collaborative, speaks on the plans in place for those living with rare disease, while members of the Genomics Partnership Wales Patient and Public Sounding Board reflect on their own personal experiences.
Wales’ approach to rare disease also forms an integral part of the Genomics Delivery Plan for Wales, another Welsh Government-funded initiative led by Genomics Partnership Wales and including a broad group of stakeholders. This details how we can harness advances in the understanding and application of genomics to transform public health strategy and the delivery of care.
Amongst many other pledges, the Genomics Delivery Plan for Wales involves the continued support of Genetic Alliance UK in several initiatives including the development of a Welsh Action Plan to implement the UK Rare Diseases Framework, the development of the adult and paediatric Syndromes Without a Name (SWAN) clinics in Wales and contributing genomic expertise to the various relevant Welsh Cross-Party Groups including Rare, Genetic and Undiagnosed Conditions, and Cancer.