MDUK's response to the Northern Ireland Rare Diseases Action Plan

The Northern Ireland Rare Disease Action Plan is the second of four action plans to be published, each covering one of the four devolved nations within the UK. It follows the England Rare Diseases Action Plan, released in February 2022. The Northern Ireland Action Plan sets out 14 specific actions for April 2022-March 2023, in order to achieve the four main priorities in the UK Rare Diseases Framework:

• helping patients to get a final diagnosis faster
• increasing awareness of rare diseases among healthcare professionals
• ensuring better coordination of care
• improving access to specialist care, treatments and drugs

We are particularly encouraged to see a focus on the following area, which we believe will improve care and support for people with a muscle-wasting condition:

• Newborn screening: A task-and-finish group will be established to scope the newborn screening needs for Northern Ireland, taking geographical prevalence of conditions on an all-island basis into account. 
• Establishing a Northern Ireland Rare Disease and Congenital Abnormality Register (NIRADCAR): A register will be linked to digital integrated care records to facilitate coordination of care.
• Education and training: Further links will be developed with external organisations including both Northern Irish universities to ensure further rare diseases education and training. An education co-ordinator will also be appointed.
• Improved rare disease research: There will be a review of the current number of rare disease studies openly recruiting patients in Northern Ireland. Transparency will also be improved during clinical trials through improved communication. 
• Focus on mental health needs of rare diseases population: The action plan acknowledges both mental health difficulties related to the realities of rare disease on quality of life as well as specific conditions with a clinical mental health impact. It seeks to work in alignment with the Department of Health's Mental Health Strategy.

As well as outlining the actions for the year ahead, the report also covers progress to date since the UK Rare Disease Framework was published. For instance, in February 2022, a new all-island North/South Rare Disease Forum was established, to facilitate collaboration between Irish and Northern Irish patient groups. 

Based on these actions, MDUK are optimistic about seeing improvements in the services and access to new treatments for people with muscle-wasting conditions across Northern Ireland. We'll continue to monitor how well the action plan is delivering improvements for people living with muscle-wasting conditions in Northern Ireland by working with families, individuals, clinicians and policymakers; and through our role as secretariat of the Northern Ireland All Party Group on Muscular Dystrophy. We'll fully review the progress of these actions next year, with the next iteration of the Northern Ireland action plan. 

Robert Burley, MDUK Director of Care, Communications and Support, reacted to thee release of the plan, saying:

MDUK welcome the implementation of these actions. Providing the best possible care for rare diseases such as neuromuscular conditions is so specialised and it is important to have a bespoke plan that addresses the unique needs of Northern Ireland. This is a significant step in the right direction to raise standards of care, from a clinical perspective, and achieve the best possible quality of life for patients.