Colm Burke (Fine Gael)

I move:

That Seanad Éireann:

notes that a rare disease is defined in the EU as a condition that affects fewer than 5 in 10,000 people, 0.5% of the population. Further notes, that even though specific data on rare disease prevalence have not been compiled in Ireland, the Department of Health recognises that between 6% and 8% of the population could be affected by a rare condition, according to the European Committee of Experts on Rare Diseases estimates;

acknowledges the work being undertaken by the Department of Health in developing a national plan and policy for rare diseases;

recognises that the introduction of a comprehensive clinical care programme specifically designed for patients with rare diseases would address their needs within the health care system and would help to ensure that the patient would have the required continuity of care for their lifetime;

notes that there are between 6,000 and 7,000 known rare diseases, and according to the European Database on Rare Diseases, Orphanet, approximately five new conditions are described each week;

recognises that rare diseases impact not only on the patient or symptomatic person but also their families, parents, siblings, carers and others;

acknowledges that there is currently a review being undertaken by the Department of Health in respect of existing strategies to address patients with rare diseases; and

calls on the Minister for Health to:

a) introduce a clinical care programme specifically for patients with rare diseases;

b) examine the development of suitable information systems including registries for rare diseases;

c) prioritise available funding to aid the work of the National Centre for Metabolic Disorders at Temple Street Hospital and the National Centre for Medical Genetics, NCMG, at Our Lady's Children's Hospital; and

d) examine the possibility of analysing genetic tests within Ireland with a view to saving money.

I welcome the Minister, Deputy Reilly, to the House. I welcome the representatives from a number of voluntary organisations who are present and who have been involved with rare diseases. They gave a very comprehensive presentation at a meeting of the Joint Committee on Health and Children last Thursday. Having listened to it, I felt it was appropriate to have a debate in the Seanad on the subject. A number of different organisations are involved in this area, including the Genetic and Rare Disorders Organisation, GRDO, which is the Irish national alliance for rare diseases; the Medical Research Charities Group, MRCG; and the Irish Platform for Patients' Organisations, Science and Industry, IPPOS. There are representatives from these organisations present today.

The presentation made last Thursday highlighted the very many issues families must deal with when a family member is diagnosed with a rare disorder. The problem involves identifying the disorder. In many cases, the matter is quite complex and even trying to obtain a diagnosis can cause many difficulties. A rare disease is defined in the European Union as one that affects fewer than five out of 10,000 people. In Ireland, the number of people affected may be slightly higher, as with cystic fibrosis. This would still be considered a rare disease. Overall, a rare disease may affect as few as 0.05% of the population, but between 6% and 8% of the population may be affected by a rare disease during the course of their lives. The number can be quite large and it is, therefore, a matter of setting up structures to deal with this.

Figures in the public domain show that approximately 80% of rare diseases are genetic in origin. This is an estimate and it highlights the need for research. Some 50% to 75% of the diseases affect children, and around 30% of children with a rare disease are estimated to die before the age of five. It is extremely important, therefore, that we have proper structures to deal with this complex area and the impact on families. Where families know there is a problem with their child, it is a question of determining the problem and proceeding from there. If a disease affects but two or three people on the entire island of Ireland, it is more difficult for families and the medical profession to deal with it.

Rare Disease Day was on 29 February. It was organised to highlight a number of key areas, including access to correct diagnosis and the lack of information not only before diagnosis, but also after. The overall lack of scientific knowledge in certain areas and the social consequences on the identification of a disease must be considered. These issues were highlighted on 29 February. Also identified was the lack of appropriate quality health care after diagnosis. The high cost of drugs that may be required to provide treatment must be borne in mind. Another issue identified last week concerned inequality in the availability of treatment care, in addition to the issue of isolation. We must deal with these issues.

In April 2011, the Minister set up a national steering group to develop a policy framework on prevention, detection and treatment. The treatment of a person with a rare disease must be of based on the principle of high quality care, equity and a patient centred approach. I know the Minister is considering a five year programme and the taskforce has been asked to consider the key areas. It has been asked to identify the centres of expertise. When I was a Member of the European Parliament, I was involved in dealing with the provision of health care and the need for more co-operation at European level. The population is under 4.5 million people and there are certain treatments that would not be viable for the numbers affected but it could be provided in co-operation with other jurisdictions and ensuring that Irish citizens have access to it. Once the rare disease has been identified, it is important that the person has access to the necessary medication and does not have to get it from abroad.

We also need to co-ordinate research on these diseases. The Minister has designated a person in his Department with overall responsibility for research but there is a need to co-ordinate research in the HSE also as I am not sure if somebody has been identified in the HSE to deal with it. That is very important from the point of view of dealing with issues like this.

The task force must ensure that we move forward and not leave the situation in abeyance. It is important that there is a clear timeframe to set up the structures to deal with the issue. I tabled a motion which states clearly what must be done. I called on the Minister to introduce a clinical care programme specifically for patients with rare diseases; to examine the development of suitable information systems including registries for rare diseases; to prioritise available funding to aid the work of the National Centre for Metabolic Disorders at Temple Street Hospital and the National Centre for Medical Genetics, NCMG, at Our Lady's Children's Hospital; and to examine the possibility of analysing genetic tests within Ireland with a view to saving money. I understand that many of the tests we conduct are going outside the country for analysis.

In November 2009, the Commission established a committee of experts to deal with rare diseases and to co-ordinate it at European level. This was to assist it in monitoring, evaluating and disseminating the results of measures taken at EU and national level in the field of rare diseases, and to contribute to the implementation of EU action in the field and in particular by analysing the results and suggesting improvements in the measures taken; to contribute to the preparation of Commission reports on the implementation of the Commission communication and the Council recommendations; to deliver on recommendations or submit reports to the Commission at the latter's request or on its own initiative; and to assist in international co-operation on matters relating to rare diseases. It is important that we do not wait for Europe to come up with solutions, we should look to give the lead in this area.

I thank the Minister for establishing the taskforce in April 2011. It is important to give the lead from the European point of view, in setting forward what we are doing in dealing with the issue and providing the support to families who must deal with these problems on a day-to-day basis. We must ensure we have a structured system in place in the period of the five year programme. We must work at European level in progressing co-ordinated research in that area. I have seen recent figures of research and development in Europe which shows that 70% of all the people involved in research are going to the US rather than staying in Europe and we must consider how we can retain them rather than seeing them go to the US.

It is important that we move forward and set in place the structure to ensure we have a comprehensive way of dealing with these issues as they arise and that patients have the security of receiving high quality, patient focused care.