Simon Harris (Wicklow, Fine Gael) | Oireachtas source

I thank Deputy Dooley for raising this important matter. I begin by saying he is entirely right when he says people on the ground get it and we need to do better. It is a fair summary. I have been familiarising myself with the condition in recent months and as the Deputy correctly states, I have heard from a number of families doing the very best for their children. I would be happy to facilitate a meeting with the Deputy and some of these parents to discuss the matter in the coming weeks. We can set that up shortly.

I thank the Deputy for providing an opportunity to outline where we are and what we can do to ensure we better serve these children in future. EDS is classified as a rare disease, which is defined in the European Union, 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 rare diseases. Collectively, rare diseases affect a large number of people and are significant contributors to a number of population health outcomes in terms of their high mortality, morbidity and disability.

Ireland published a national plan for rare diseases in July 2014. On foot of the plan a national clinical programme for rare diseases and a rare disease office has been established. In 2017, the Department published a progress report and update on all 48 recommendations of the rare disease plan. This interim report represents a detailed review of the implementation of the national plan.

EDS is not one condition, as the Deputy knows, but a group of several clinically distinct conditions. It has a relatively high prevalence of one in 5,000. It affects the connective tissues and most commonly can cause joint hypermobility. 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. The nature of joint hypermobility syndrome 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. The more severe forms of EDS, as the Deputy referred to, require specialist treatment often by multiple specialists but usually under the care of the specialist for the most severely affected organ system. These specialists can be paediatric cardiologists, rheumatologists, neurologists and orthopaedic surgeons. Where surgery is required, it is provided for in the context of surgical and orthopaedic services for patients with EDS.

The most severe cases of EDS 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 EDS nationally is between 20 and 40 patients. In late 2017, the HSE national clinical programme for rheumatology completed a significant piece of work relating to a model of care for rheumatic and musculoskeletal disorders. I am pleased to inform the Deputy that this is at the final stages of approval by our health service. This model aims to ensure that the patient is seen, assessed and treated by the right person in the right place and in the timeliest manner. With the implementation of this model of care, the programme will develop disease-specific pathways for disease groups, including EDS as part of hypermobility diseases. There is a new plan coming down the tracks that will include patients with EDS.

I thank the Deputy for his helpful comments and suggestions. EDS is, without doubt, a significant condition causing very distressing symptoms and may often require a range of specialist multidisciplinary treatments. We need to do better by these children. For those patients most severely affected where surgery is required, surgical treatment, especially in children, forms part of the current management of symptoms.

I especially welcome the ongoing work of the national clinical programme for rheumatology and its new model of care for patients, which includes EDS as part of hypermobility diseases. This can bring us to higher terrain in how we care for patients in this country.

See this speech in context