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MDUK’s Response to Wales Rare Diseases Action Plan

16 June 2022

On Thursday, the NHS Wales Health Collaborative published the Wales Rare Disease Action Plan, to be implemented through 2026. MDUK welcomes this significant step in improving care for people living with neuromuscular conditions.

In January 2021, the UK Government published the UK Rare Disease Framework, laying out the 4 main priorities to improve the lives of people living with rare diseases in the UK:

  1. Helping patients get a final diagnosis faster
  2. Increasing awareness of rare diseases among health professionals
  3. Ensuring better coordination of care
  4. Improving access to specialist care, treatments, and medicines

The Wales Rare Disease Action Plan follows the release of similar plans by England in February 2022 and Northern Ireland in March 2022 and includes important important developments to the Wales Rare Diseases Plan published in February 2014. This plan outlines detailed actions for each of the 4 priorities and shows great promise in improving care for people living with rare diseases.

MDUK is particularly encouraged to see an emphasis on the following areas, which we believe will provide significant support and change for people with neuromuscular conditions:

  • Genomic sequencing: a 3-year detailed Wales genomics delivery plan (2022-2025) has been developed to enhance the use of genetics to help patients get a diagnosis faster, including the establishment of a public health and screening system that uses these techniques.
  • Education and awareness: In cooperation with Welsh universities, a rare diseases module will be incorporated into undergraduate curriculum to increase knowledge of rare diseases among health professionals. 
  • Coordination of care: Exemplar pathways for rare disease conditions will be developed starting in 2022, with a special focus on multi-disciplinary team and mental health provision.
  • Digital patient records: The Rare Disease Industry Group (RDIG) and the University Health Board are working together to develop a ‘patient passport’ for rare disease patients to improve patient experience.
  • Access to Medicines and Treatment: The RDIG will continue to monitor and develop improvements in patient uptake of new medicine and treatments in Wales. Collaborative work between the RDIG and Welsh Health Specialised Services Committee will ensure appropriate consultant specialist services are available in Wales. 

As well as outlining actions for the coming years, the plan also discusses the important developments that have been made since the last Wales Rare Diseases Plan published in 2014. For instance, the Welsh government’s £80 million New Treatment Fund, established in 2017, has made significant progress in speeding up access to new medicines in Wales. 

The government has prioritised engagement with the rare disease community in the creation of the 2022 action plan by holding ‘Genomics Cafes’ and various consultation workshops.

Based on these actions, MDUK believes that this plan has the potential to create important changes in care and access to treatments for people with rare diseases across Wales. Our organisation will continue to monitor the implementation of this plan over the next few years to ensure that the Welsh government is delivering improvements for people living with a muscle-wasting conditions in Wales. We will do this by working with patients, families, clinicians, and policymakers, and through our membership of the Wales Cross Party Group on Muscular Dystrophy.

If you’d like to find out more about this work or the other campaigning work we do at MDUK, please do get in touch with us at

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