Dáil debates

Thursday, 14 June 2018

4:50 pm

Photo of Timmy DooleyTimmy Dooley (Clare, Fianna Fail)
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I raise the issue of a lack of a designated expert in the Health Service Executive, HSE, for those individuals who suffer from Ehlers-Danlos syndromes, EDS. The Minister is aware that this is a group of syndromes relating to connective tissue disorders. The way in which they affect patients varies greatly. For some, the condition can have a profound impact on the quality of life. It has an impact not just on health but in many cases on an individual's mobility. That can range from relatively normal to very severe.

I will raise two cases in Clare with which I am very familiar. The first is Aoife Sage and the other is Zara Cronin. Aoife was diagnosed aged nine and her condition since has deteriorated rapidly from initially having some weakness or fatigue, with episodes of fainting and dizziness, to what is now joint pain and the requirement for a wheelchair. She is now 14. She suffers from instability in the neck and with certain movements her neck becomes dislocated. One can imagine the impact this has had on Aoife, who is unable to attend school. Her condition now is such that home schooling is not even an option for her.

There is no care available for her in the Republic. She has visited London for certain scans and there is some assistance in that regard. However, her condition, bad and all as it is, can be improved, along with her quality of life and mobility, if she can access surgical intervention that fuses parts of the head and spine. I am no medical expert in that regard but I understand her parents have consulted with a private clinic in Barcelona. I am aware that in the case of Zara Cronin the same solution could apply. I am also aware of a number of other cases throughout the country. They are relatively small in number but we understand there could be a significant benefit for those sufferers if they could access the surgery.

The difficulty is the State is not in a position or has not been in a position to provide funding as the available care is not in the public service anywhere in Europe. It is, however, provided for in this clinic in Barcelona. It is pretty clear from what I have seen and read that this intervention would have a very significant impact on the lives of the two girls with whom I am familiar. It is incumbent on us in this House and in the Department not to stand back from intervention because it is exploratory or at an early stage when there are recognised positive benefits for others. I appeal to the Minister to look at the cases again. I know there has been some communication between the Department and these families and others with a view to providing funding at this stage to ensure these children can be treated in the private facility in Barcelona. We can then develop our skill sets so we can try to be in a position to treat other individuals who will present at a later stage. I accept it is not possible to put in place that clinical care and intervention overnight here but it is available elsewhere.

I met the parents of these girls and Aoife's have had to do a crowdfunding exercise. I attended an event in Shannon the other night where the families and friends from the area around Sixmilebridge, Shannon and Newmarket came together in desperation to try to put funds together to help this family. The people on the ground get it and understand the positive impact that this family could experience. Anybody I have spoken with who knows the family, in some cases better and for longer than me, knows this is genuine and this will make a difference if the surgery is successful. It cannot be done without money.

I know we have come through a difficult time in the country but in this day and age should we be seeing a family effectively begging from their neighbours to collect money in order to have a medical service provided to their beautiful daughter? It says much about how we as a society react to children in dire circumstances. In fairness, the Minister while in the Department has demonstrated a great capacity to address serious matters as they arise. I hope he can do the same here and deliver some good news. I hope he will be in a position to meet the parents of these two children who might act as a representative of others suffering the same condition.

Photo of Simon HarrisSimon Harris (Wicklow, Fine Gael)
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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.

5:00 pm

Photo of Timmy DooleyTimmy Dooley (Clare, Fianna Fail)
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I welcome the Minister's commitment at least to meet the parents of the two children in question. I will be in contact with his office and we will try to arrange such a meeting in the next week or so. What is clear from the Minister's answer is that the HSE is still of the belief that it has an appropriate plan and model of care to deal with these complex cases. My interaction with the families indicates that is not the case, and I hope this will be brought home to the Minister when he meets the parents. While some of it is exploratory, good work is being done in Barcelona on cranial fusion and fusion within the spine. The Minister should see some examples of this work. The HSE will obviously want to manage this disease in Ireland, but we must be prepared to look elsewhere, as we do with the management of other diseases for which we access care in other countries when specialist training is not available here.

The families are familiar with what can be done and want to stand by their daughters and give them every chance. The State has a duty and an obligation to assist them in this regard. For this reason, rather than getting into a set piece here, I would like to engage with the Minister and his Department to try to find some way of assisting the families. It is not fair, given everything they must do for their children, that these parents should spend valuable time trying to fundraise from a community that is nonetheless prepared to help. Up to €100,000 would be required to cover the various costs associated with a family relocating to Spain for a period. For a community such as County Clare to fundraise for two families is too great a burden. It is incumbent on us to resolve the matter here and to do so, if necessary, by way of a pilot project or programme in order that we will learn and benefit from it and that other children who present in future will have the benefit of the learning these families will, I hope, be in a position to provide.

Photo of Simon HarrisSimon Harris (Wicklow, Fine Gael)
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I assure Deputy Dooley that my answer was not meant in any way to suggest that everything is absolutely appropriate and adequate in this regard. We need to do better, which is the reason I very much welcome the new clinical programme being worked on, of which EDS is a part. I believe the programme will be welcomed by patients with EDS and their families. However, the Deputy is entirely correct that the voices of patients and their families are extremely important as we develop these plans. I would very much welcome the opportunity to meet Deputy Dooley and the families to whom he refers in the coming weeks in order that we can ensure they make an input and to see if the State can do more to support them.