Rare Disease Day 2023
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.
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.
Watch the video in welsh here
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.
Find out more about the progress being made by those working to improve the lives of people living with rare diseases HERE