Commencement Matters

Rare Diseases

I welcome the Minister of State to the House. Ehlers-Danlos syndrome is a disease that would not be very widely known yet about 500 people in Ireland suffer from it. It is a soft tissue disease where patients suffer a lot of pain and where their joints might be rubbing off each other. Many children have been diagnosed with this disease. I spoke to the chairperson of the representative group in Ireland. I arranged a meeting between the Minister for Health and some people with this disease during a visit to Limerick earlier this year. I know the Minister took a note and was very aware of the different issues. I know he has had a meeting with the HSE with regard to it but there are a number of issues relating to the disease.

A main one is that there is no doctor in the country who can diagnose the disease fully or sign off on it in terms of the cross-border directive. If the patient has to have an MRI, it must be an upright MRI but there is no upright MRI scanner in Ireland. Patients must go to Belfast or London. The scan costs about €2,000 and is not covered under anything in the current system so people must pay for it privately if they want to have the operation, which many of them must have. I know a young girl who had the operation in Barcelona earlier in the year and has had to go back twice since then. The family fundraised for this operation because the girl was in such pain. She was 14 years of age. There are many more cases like that.

While it is recognised, there is nobody available to sign off on cases and there is no specified neurologist. Many children with the condition are on a waiting list of about two and a half years to see the neurologist at Our Lady's Children's Hospital, Crumlin. There are many issues and there is a considerable amount of pain, not just the pain the child or adult with the condition goes through but the pain their families go through. I know of a few adults with the condition. I know one family where the mother and her son have the condition. Patients and their families experience a considerable amount of pain and cost. I would like an update regarding what is happening with the HSE and what it will do for the people with this condition.

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.

I thank the Minister of State. I am disappointed, not with the Minister but with the response. First, there is a two and a half year long waiting list for these children and the adults involved. This is not addressed in the response from the HSE. Second, they need an upright MRI scan to be recognised. As I said, it is reckoned there are approximately 500 people in Ireland, between adults and children, with different levels of severity of the condition. As stated in the response, these people are treated collectively by different consultants but there is no one who deals specifically with Ehlers-Danlos syndrome. As a result, there is no one qualified to sign off on permission for people to be covered under the cross-border directive. These people must go abroad for the operation because there is no one in Ireland qualified to perform it. This is not covered in the response either. These are two crucial issues. What happens a lot of the time is that when the children go into hospital, and many of them have gone into the local hospitals, the neurologist or whoever else is not trained to deal with the severity of the pain of these children. The pain they go through is sometimes quite excruciating.

We need someone who knows something about this. I know it is a rare disease but we must deal with it because the numbers with the disease are growing. Perhaps a neurologist who is sent on a course could deal with it specifically and with the people affected. It is terrible to think that people have to go abroad for their treatment and that there is no one here to sign off on this treatment.

I thank the Senator again. I appreciate her frustration in not getting the answers she was looking for. I suppose what she is looking for more than answers is a more comprehensive set of solutions. I will undertake to go back to the HSE, raise the Senator's concern about the upright MRI scan and check whether there are any proposals in this regard or whether it is on the agenda to purchase the equipment. I will also query with the HSE specialist training for Ehlers-Danlos syndrome, particularly to see whether the HSE has a plan to have someone upskilled in treatment of the condition in order that we can accurately diagnose and treat it here as opposed to sending people abroad. I will ask the HSE to revert directly to the Senator with its responses to these queries.

That is great. I thank the Minister of State.