Tommy Broughan (Dublin North East, Labour)
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Ehlers-Danlos syndrome or EDS is classified in European Union terms as a rare disease because it affects less than one in every 5,000 of the population. EDS is mainly thought if as being a genetic disorder but some literature suggests that it can occur spontaneously. It has been termed as the "invisible illness" because while there are no visible symptoms, sufferers may be in great pain and discomfort.

According to information I have received from members of EDS Awareness Ireland, and in a response to a parliamentary question I recently received from the Minister for Health, Deputy James Reilly, it is thought that around 200 people in Ireland are suffering from EDS. In the past, there were ten classifications of the disease but this was revised downwards to six main classifications, namely, hypermobility, classical, vascular, kyphoscoliosis, arthrochalasia and dermotosparaxis.

There is a wide variety of symptoms of EDS depending on the type of the disease but, in the main, it is recognised as a defect in the synthesis of collagen. Some of the main characteristics of EDS symptoms include joint hypermobility whereby sufferers' bones are dislocating constantly; skin extensibility and tissue fragility; chronic early onset debilitating muscoskeletal pain; arterial, intestinal or uterine fragility or rupture; scoliosis at birth; scleral fragility; poor muscle tone; and gum disease. That is a serious range of conditions within this EDS classification. According to the HSE, most EDS sufferers in Ireland fall into the EDS-3 hypermobility group.

I thank the Minister of State for attending the House for this debate. I wish to convey to him the key issues of concern for EDS sufferers and to which EDS Awareness Ireland wants answers. First, there is no specialist clinician to treat EDS sufferers in this State. Many EDS sufferers have been advised to seek treatment in the UK, but when they make an application for such treatment under the HSE's treatment abroad scheme, their applications are being refused. One such application was refused recently for a constituent of mine.

Another serious cause for concern for EDS sufferers is the lack of research undertaken about the disorder and its prevalence. In fact, the HSE has advised me that no research of any kind has been undertaken on the range of EDS illnesses by the Department of Health. In addition, an interdisciplinary approach to EDS is lacking. A key issue concerning EDS is its timely diagnosis and intervention. Children with the disease are not being diagnosed early enough.

Again, EDS Awareness Ireland believes that because of this many sufferers face a life of grave illness and serious difficulties. Due to the rarity of the disorder and its varying classifications, diagnosis can take some time. This is exacerbated by the lack of a specialist clinician in Ireland with knowledge of EDS. There was a clinical facility for the treatment of this illness in Tallaght hospital about a decade ago but this was subsequently withdrawn by way of various cutbacks.

The Minister of State will be aware that European Union Council recommendation on an action in the field of rare diseases provides for the putting in place by EU member states of a framework of obligations in the area of rare diseases by the end of this year. What progress has been made in this regard, which also deeply affects EDS sufferers? Members of EDS Awareness Ireland are anxious that the provisions of the Council recommendation would be put in place. Their primary concern is to improve treatment and supports for sufferers in Ireland. They also request that applications to the treatment abroad scheme to receive treatment in the UK would be dealt with more favourably because of the wealth of experience of some physicians such as Professor Rodney Grahame or Professor Mathias in London. EDS sufferers, who meet regularly in Cork and Dublin, will continue to campaign for more supports and recognition of this very serious disorder. I hope that the Minister of State, despite the straitened times in which we find ourselves and in the spirit of the more hopeful news we heard earlier today, can offer EDS sufferers more hope this evening.

Alex White (Dublin South, Labour)
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I am pleased to have this opportunity to outline the position in relation to the matter raised by Deputy Broughan today.

As outlined by the Deputy, a rare disease is defined in the EU as a disease or disorder affecting fewer than 5 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. It has been estimated that European populations have a 6% to 8% lifetime prevalence of having a rare disease. More recent estimates suggest that 2% to 3% of the population at any one time have a rare disease. Rare diseases are significant contributors to a number of population health outcomes in terms of their high associated mortality, morbidity and disability. They are also significant as a cause in sensory, physical and intellectual disabilities as well as in the population health burden of chronic disease.

As also outlined by the Deputy, Ehlers-Danlos syndrome, EDS, is not one condition but a group of several clinically distinct conditions. The vast majority of patients would fall into the EDS category, which has a relatively high prevalence of one in 5,000. Many of these patients attend rheumatology clinics and may often be seen by physiotherapists without needing consultant assessment. I understand from the HSE that inpatient and day care rehabilitation facilities at Our Lady's Hospice and Care Services are available and suitable for adult patients with Ehlers-Danlos syndrome. Children services are available at Our Lady's Hospital for Sick Children, Crumlin. Patients can be referred to these facilities by a general practitioner or medical consultant if they are attending a service in the acute hospital system. Patients outside the Dublin area can also be referred to these units for assessment and treatment if appropriate.

Due to the nature of the syndrome, most patients attend rheumatology clinics and, as stated, often may be seen by physiotherapists without needing consultant assessment. Patients with more severe forms of EDS attend the rheumatic and musculoskeletal disease unit, RMDU, based at Our Lady's Hospice and Care Services in Harold's Cross for periods of structured multidisciplinary rehabilitation.

I am pleased to have an opportunity today to advise the House that work is well under way on the national plan for rare diseases which, once finalised, will be subsequently published. One of the key elements of the plan relates to centres of expertise. Effectively, it envisages that national centres of expertise in Ireland will participate in European reference networks on rare diseases. Expertise in terms of guidelines, treatment protocols, e-health diagnostic and training tools, will be disseminated through these networks building up the expertise of national clinicians and enabling patients to be treated closer to home. Where necessary these networks will constitute health care pathways along which patients can be referred for treatment abroad.

It is envisaged that a national rare diseases programme would, over time, collate and assist with developing national treatment guidelines, standard operating procedures and care pathways for many rare disorders, in collaboration with the designated reference centres. It would also develop care pathways with European reference centres for those ultra rare disorders in respect of which there may not be sufficient expertise in Ireland.

There is no specific research on the prevalence of any form of Ehlers-Danlos syndrome in Ireland. However, the issue of research into rare diseases such as this will be addressed in the context of the National Plan for Rare Diseases.

Tommy Broughan (Dublin North East, Labour)
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Is the Minister of State saying that a dedicated clinician will be appointed in Dublin or Cork or, in both cities, to treat sufferers of EDS, which is the nub of the problem for sufferers? I would like to quote from a letter which I received from a wonderful young constituent who is due to sit the leaving certificate examination next year. She says:

I need your help. I am living with Ehlers-Danlos syndrome. It is a genetic condition of my collagen that affects so much of my physical and mental health every day. I wake up afraid of what the day will bring while I deal with hospitalisations, constant pain, medical complications, frustration, fatigue, fear and physical challenges. I am terrified I am living in survival mode.

This would be the typical view of young people who suffer from this terrible condition.

I understand that the EU Council recommendation of 2009 states that the report referred to must be finalised by the end of this year. Will it include a full plan and strategy and will it define rare diseases prevalent in this country? The Minister of State indicated that it is proposed to establish centres of excellence in this country. Will this happen soon? Also, will research be undertaken in Ireland into the prevalence of EDS and its cause and appropriate treatments? What is being done in terms of the development of a database of all EDS sufferers in this country?

I have tabled a series of questions on this matter to the Minister, Deputy Reilly and Minister of State, Deputy White, in respect of which I am still awaiting a reply, in which I have set out many of the concerns I have raised this evening. The Minister of State did not respond to my point about whether the centre of excellence in Tallaght hospital relating to the range of EDS conditions has ceased operation. Sufferers of EDS can become frustrated if required to have an MRI scan because, as there is no stand-up facility, they are required to lie down for the scan and, in particular, by the need to have to travel abroad for treatment. I urge the Minister to address this situation urgently.

Alex White (Dublin South, Labour)
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The Deputy has been very assiduous in raising this issue. Some of the specific questions raised by him are likely to be only fully addressed in the context of the national plan for rare diseases, on which I have indicated to the House work is well under way. Once finalised, the plan will be published. I do not have any direct involvement in that area but I am aware, because I work in other areas with the officials working on it, that that work is progressing. I am conscious that this work is progressing in the Department.

I had the privilege of opening and addressing a conference on the subject of rare diseases earlier this year. Many of the issues raised by the Deputy were raised at that conference so I have some understanding of them. There are some very committed and strong advocacy groups involved in this area, of which I know the Deputy is aware. He has taken up their case very well this evening and on previous occasions. I am not in a position to address any individual aspects of the plan until such time as it has been finalised and published. This process provides a great opportunity to pull together all of the different priorities which the Deputy rightly says exist, be that in the area of research or the appropriateness of appointing or assigning particular clinicians to this area. All of the aspects of a proper plan, which is clearly needed in this country, will be dealt with in that context. I hope that the plan will be published in the very near future.