Progress Report on the Northern Ireland Rare Diseases Action Plan 2022-23

The report details the progress made by the Northern Ireland Rare Diseases Implementation Group (NIRDIG), in the first year of the Northern Ireland Rare Diseases Action Plan.

The Action Plan was published in March 2022 by former Health Minister Swann. Each UK country has developed a nation-specific Action Plan to implement the UK Rare Diseases Framework, which aims to improve the lives of people living with rare diseases. It identifies four priority areas for action:

• Faster diagnosis;
• Increased awareness of rare diseases amongst healthcare professionals;
• Better coordination of care;
• Improved access to specialist care, treatment and drugs.

Chair of the NIRDIG, Professor Ian Young, said: “I am pleased to report on the good progress that has been made over the first year of the Northern Ireland Rare Diseases Action Plan. Colleagues from across the Department, commissioning, Public Health R&D, HSC and academia have worked together with the Northern Ireland Rare Diseases Partnership to overcome challenges, progress actions and build firm foundations for the future. Whilst there is still much to do, the Year 1 Progress Report demonstrates that there is a great deal to be proud of and I would like to sincerely thank NIRDIG, the Northern Ireland Rare Diseases Partnership and members of the working groups for their ongoing commitment and drive to implement the Action Plan and improve the lives of people living with a rare disease.”

The Northern Ireland Rare Diseases Action Plan sets out 14 high level actions aligned with the four priority areas of the Framework, developed by NIRDIG and informed by stakeholder events and input from the rare disease community and the Northern Ireland Rare Diseases Partnership (NIRDP). Key areas of progress over the Action Plan’s first year include:

• The appointment of HSC Adult and Paediatric Rare Diseases Clinical Lead Consultant posts, to facilitate better coordination of rare diseases treatment and care across the HSC, providing clinical leadership and input and advice to NIRDIG.
• Establishment of a new All-Party Group (APG) for Rare Diseases, chaired by Mark H Durkan MLA, with secretariat provided by the NIRDP, providing a much-needed voice at the Northern Ireland Assembly for the rare disease population.
• An ongoing review of the existing Northern Ireland rare diseases coding infrastructure to inform the development of a Northern Ireland Rare Diseases Registry.
• Work to develop guiding principles for healthcare professionals around the transition journey of a rare disease patient moving from paediatric to adult services.
• Collaboration with training organisations across the UK and Ireland to enhance rare diseases healthcare education and training.
• Linking with encompass, the new electronic patient record system, and Digital Health & Social Care Northern Ireland (DHSCNI) on the delivery of its Patient Portal and how it could benefit rare diseases nationally and internationally in the long term.
• Extensive work in the rare diseases research arena to apply for funding from external organisations, as well as active participation in several UK-wide research groups.
• Development of an options paper exploring the feasibility and potential advantages of a Rare Diseases Champion for Northern Ireland
• A successful Rare Disease Day event at Parliament Buildings on 28 February 2023, organised by NIRDP and Rare Diseases Ireland, with support from DoH. 160 people participated, connecting people living with rare diseases, rare disease advocates, healthcare providers, researchers, and policymakers.

Notes to editors: 

1. The Progress Report Year 1 and Action Plan can be found online at: Northern Ireland Rare Diseases - Action Plan 2022/23 | Department of Health (health-ni.gov.uk)
2. The UK Rare Diseases Framework  signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases:assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/950651/the-UK-rare-diseases-framework.pdf
3. The Northern Ireland Rare Diseases Action Plan was published by former Minister Swann in March 2022, setting out 14 high level actions for 2022-23, informed by the rare disease community in Northern Ireland: www.health-ni.gov.uk/sites/default/files/publications/health/doh-ni-rare-diseases-action-plan-2223.pdf
4. For media enquiries please contact the DoH Press Office by email pressoffice@health-ni.gov.uk.
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