Tommy Broughan (Dublin North East, Labour) | Oireachtas source

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.

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