Jim Daly (Cork South West, Fine Gael) | Oireachtas source

I am grateful to Senator Byrne for allowing me the opportunity to speak on this important matter. Ehlers-Danlos syndrome is classified as a rare disease, which is defined in the EU as a disease or disorder affecting fewer than five in 10,000 of the European population. Although each disease is individually rare, there are a great many conditions and diseases. Collectively, rare diseases contribute to a number of important population health outcomes in terms of their mortality, morbidity and disability. I will take this opportunity to summarise policy development in the area of rare diseases.

Ireland published a national plan for rare diseases in July 2014. On foot of the plan, the HSE established both a rare disease office and a national clinical programme for rare diseases. In 2017, the Department published a progress report and update on all 48 recommendations contained in the national plan representing a detailed status update of the implementation of the national plan.

It is important to note that this syndrome is not one condition but a group of connective tissue disorders that can be inherited and can vary both in how they affect the body and in their genetic causes. They are generally characterised by joint hypermobility, skin hyperextensibility and tissue fragility. The condition has a relatively high prevalence of one in 5,000 of the population.

Once diagnosed, joint hypermobility syndrome can be treated with a mixture of exercise and physiotherapy. An exercise programme to improve fitness and muscle strength may also be effective at reducing pain. Hypermobility of the joints is the most common form of Ehlers-Danlos syndrome and requires management by physiotherapy and primary care but does not usually need specialist input. However, the nature of joint hypermobility syndrome also means that patients are at increased risk of injuries, such as dislocations and soft tissue injuries. Managing joint hypermobility may, therefore, involve treating short-term injuries as they arise while following a long-term treatment plan to manage daily symptoms.

The more severe forms of Ehlers-Danlos syndrome require specialist treatment, often by multiple specialists working as part of a multidisciplinary team but usually under the lead care of the specialist for the most severely affected part of the body. These specialists can include geneticists, rheumatologists, cardiologists, neurologists and surgeons. Where surgery is required, it is provided for in the context of surgical and orthopaedic services for patients with Ehlers-Danlos syndrome. These most severe cases of Ehlers-Danlos syndrome are rare and are usually managed by specialists at Our Lady's Children's Hospital, Crumlin.

I am advised by the HSE that the total number of patients with severe Ehlers-Danlos syndrome is in the order of 20 to 40 patients nationally. The paediatric consultant rheumatologists in Ireland based at Our Lady's Children's Hospital, Crumlin have specialist training in the management of all types of rheumatic and musculoskeletal disorders and have access to other relevant consultant specialists needed for the care of those with Ehlers-Danlos syndrome.Patients and their families trying to find information on what supports, treatments and services are available can contact the rare diseases office in the HSE.

Regarding recent developments, I am very glad to inform the House that the national clinical programme for rheumatology recently launched its model of care for rheumatology in Ireland. The aim of this model is to ensure that the rheumatology patient is seen, assessed and treated by the right person in the right place as soon as possible. Based on this model of care, the national clinical programme for rheumatology, NCPR, plans to develop disease-specific pathways for all rheumatological disease groups, which will incorporate patients with Ehlers-Danlos syndrome, in the context of how these patients often present with joint hypermobility. The next steps, following publication, are for the HSE, as part of its service planning and prioritisation processes, to provide a national rheumatology service which delivers evidence-based care in an efficient, cost-effective manner and is readily accessible to all patients with rheumatic and musculoskeletal disorders.