AQW 1589/17-22 Written question to the Minister of Health
To ask the Minister of Health what consideration is being given specifically to the development of support and pathways for people diagnosed with a rare disease, particularly those with complex needs.
Asked by Paula Bradshaw MLA on 5 February 2020
- Answered
- Written
- Tabled
- 5 February 2020
- Answer due by
- 20 February 2020
- Answered
- 20 February 202015 days after tabling
- Department
- Department of Health
- Priority question
- No
Answer
The Northern Ireland Implementation plan for Rare Diseases – Providing High Quality Care for people affected by Rare Diseases – was published in October 2015. Since then, a range of actions have been taken by the Health and Social Care sector in collaboration with other Government Departments, local government, voluntary and community organisations, researchers and industry to progress the commitments in the plan for people living with a rare disease in Northern Ireland.
Actions have focussed on addressing the five main objectives in the UK Rare Diseases Strategy: empowering those affected by rare diseases; identifying and preventing rare diseases; diagnosis and early intervention; coordination of care, and the role of research. The Health and Social Care system in Northern Ireland is working closely with its counterparts in the rest of the United Kingdom to develop care pathways for those with rare diseases; and is continuing to work closely with the Northern Ireland Rare Disease Partnership in this and in creating support systems appropriate to NI’s circumstances. In addition, there has been a focus on opportunities for cross-border collaboration on rare diseases initiatives with the Republic of Ireland.
A review of communication needs for patients with rare diseases has been commissioned and completed along with a training needs analysis for those caring for patients with rare diseases. An action plan is being developed to implement a NI Register for Rare Diseases. Through participation in the UK 100 Thousand Genomes Project whole genome sequencing has been made available based on clinical need to provide a genetic diagnosis where relevant.
Input has been sought from Northern Ireland stakeholders including patients and the public as part of a recent UK consultation to inform the update of the UK Rare Diseases strategy.