AQW 12927/22-27

Ms Connie Egan
Alliance Party
North Down

Tabled Date: 04/06/2024
Answered On Date: 18/06/2024
Priority Written: No

Question:
To ask the Minister of Health to detail the services available to (i) diagnose; and (ii) treat Ehlers-Danlos syndromes, in all Health and Social Care Trusts.

Answer:

Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue and range in severity. The route to diagnosis will likely initially occur with the patient’s GP who may make a referral to secondary care for assessment by a specialist. The specialist will assess the indications for EDS and agree the appropriate clinical care plan. This may include referral for genetic testing (for very rare presentations) and/or referral to a specialist provider in GB consistent with the patient’s clinical needs.

Although there is no specific treatment for EDS, it is possible to manage many of the symptoms, with support and advice from a range of healthcare professionals such as physiotherapy and occupational therapy. My Department is committed to improving services available for patients living with rare conditions as evidenced by the UK Rare Diseases Framework which was jointly published by the four UK Health Ministers on 9 January 2021 and the Northern Ireland Rare Diseases Action Plan, published in 2022.

The work of the Action Plan is being advanced under the leadership of my Department through the NI Rare Disease Implementation Group. Areas of work in progress include the development of clinical pathways for rare diseases to support and inform health professionals, patients and their families on how conditions are identified, diagnosed and managed including the input and role of wider HSC highly specialised service providers in their care.