Alex White (Dublin South, Labour) | Oireachtas source

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.

See this speech in context