Colm Burke (Fine Gael)
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I welcome the Minister of State at the Department of Health, Deputy Alex White. I seek an update on the progress made by the national steering group established in 2011 to address the issue of rare diseases. I was involved when this issue was raised at the time and it is one that has been debated in the House on a number of occasions since. I understand the report of the national steering committee was to be published in 2013. What is the current position in respect of the report?

The issue of rare diseases was brought home to me in the past week when I was contacted in respect of two highly unusual cases involving two young women of 23 and 26 years of age, respectively, both of whom must travel abroad for treatment. I met one of the young women and her parents on Saturday morning. She has pacemakers implanted in her stomach and bowel and is fed intravenously because of the rare disorder from which she suffers. Her case highlighted to me the importance of making progress on this issue. The problem in the case of Ireland is that the numbers suffering from specific rare conditions are so small that a co-operation with other jurisdictions is required to address the matter. We need a detailed plan for dealing with these diseases.

Alex White (Dublin South, Labour)
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I thank Senator Colm Burke for raising this important issue and providing me with an opportunity to update the House on progress in the development of the national plan for rare diseases. Rare diseases are life-threatening or chronic debilitating conditions affecting not more than five in 10,000 people. Between 5,000 and 8,000 rare diseases have been described, affecting between 6% and 8% of the population in the course of their lives. Approximately 80% of rare diseases have a genetic origin and the life expectancy of patients with such diseases is significantly reduced. Many of the relevant conditions are complex, severe and debilitating.

With regard to the plan for rare diseases, about which the Senator asked, Ireland has been supportive of European Union proposals on rare disease, which concluded with a Council recommendation in June 2009. The end point is that countries are recommended to develop plans or strategies, preferably by the end of 2013. Ireland is well advanced in this work.

In January 2011, EUROPLAN, the European Project for Rare Diseases National Plans Development, organised a national conference bringing together patients, patient organisations and health care professionals to discuss what could feed into the development of a national strategy for rare diseases. In April 2011, the Minister for Health, Deputy James Reilly, established a national steering group to develop a policy framework for the prevention, detection and treatment of rare diseases based on the principles of high quality care, equity and the requirement to be patient centred. The policy will operate over a five year period, take account of the Council recommendation on rare diseases of 2009 and define priority actions subject to resource availability.

The national steering group is working on many areas relevant to the issue of rare diseases including the following. The identification of appropriate centres of expertise for rare diseases is a key priority. The EUROPLAN report which examined services across Europe commented that in most countries there are no designated centres of expertise and, even where they exist, there is significant variation in their organisation and how they operate. A second area being worked on is access to appropriate medication and technology in the context of transparent processes to ensure equitable access to orphan drugs as well as the issue of orphan drug development.

Research is an integral part of overall care for rare diseases, including access to clinical trials where appropriate. The national steering group is considering the most appropriate registries and databases which can be used to plan and manage services in Ireland. A fourth area being considered is the empowerment of patient organisations. The EUROPLAN report contains a great deal of practical guidance on measures that can be taken to empower patients and their families in a meaningful way.

A national consultation day for stakeholders was held in Farmleigh in June 2012. This was followed by an online consultation. The Institute of Public Health is playing an important support role in the consultation and development of the national plan, which will be published by the end of this year and will cover the period from 2013 until 2018. It is intended to publish the report on the consultation alongside the publication of the plan.

Colm Burke (Fine Gael)
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I thank the Minister of State for his detailed response. On the identification of appropriate centres of expertise, will the plan, when published, identify a list of appropriate centres of expertise or will the publication of the plan mark the beginning of such a process?

Alex White (Dublin South, Labour)
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I will not hazard an answer to the Senator's question. However, I will seek to obtain the information he seeks in the next few days, at which point I will indicate to him whether a list is likely to be included in the plan or will follow thereafter. There is a commitment to publish and implement the plan and the various other components of the process. I thank Senator Burke again for the assiduous interest he has demonstrated in this issue.