Caít Keane (Fine Gael)

I second the motion. On 29 February, Europe Rare Disease Day, I raised the issue of rare diseases on the Order of Business.

I welcome the representatives from all the organisations who are present. The Genetic and Rare Disorder Organisation, GRDO have asked for clear defined health pathways for those affected by a rare disease. People with a rare disease are at a complete disadvantage to other patients in terms of being treated appropriately. GRDO has asked for the establishment of a rare disease national office. Will the Minister ask the task force to consider the feasibility of doing this? The buck stops here. I accept the Minister cannot watch everything every day but there should be an appropriate office that people could contact which would make their health care more efficient and would save money in the long run by reducing the time spent shuffling patients between doctors. The provision of high quality services to these patients in a cohesive way through a central office that can be cost effective will lead to better management of services and, more importantly, better outcomes for patients and their families.

The issue of rare diseases is not spoken about often enough because the small numbers affected mean they do not have a big voice and we, as politicians, must ensure that the small voices are heard as loudly and clearly as the voices of those with big numbers. Being diagnosed with a disease can be distressing. When diagnosed with a rare disease one faces greater difficulties, ranging from lack of specialists able to treat the condition to lack of patient support.

While a delayed or incorrect diagnosis is always a possibility with a rare disease - I have read of patients waiting some time to have their condition diagnosed - we in Ireland are good at diagnosis, but I see somebody in the Visitors Gallery shaking their finger. When I read up on this topic before Europe Rare Disease Day, I noted that a child had to wait between seven and ten years for a diagnosis. That is a long time in a child's life.

There are difficulties, as there is no concentration of expertise, for example up to a few years ago, cystic fibrosis was treated all over the country but now treatment is more specialised and is delivered in certain hospitals. I welcome the development of the inpatient and day care cystic fibrosis unit. We are all familiar with cystic fibrosis which is not an uncommon disease but is classified as a rare disease. I welcome the new cystic fibrosis centre in St. Vincent's Hospital.

The treatment of a rare disease poses a particular problem because of the size of the country. With rare diseases it is a matter of chance if one can find a doctor with the expertise in that area. Even if a doctor has the expertise he or she may not have the ability to continue to specialise in it because of the small numbers. For that reason we have to fall back on services in other countries, such as our nearest neighbour in the UK, for back-up. There is no harm in that but we should move away from this reliance on our nearest neighbour and seek to have some speciality even in one hospital in the country for each disease. That the disease is considered rare means that in the past many pharmaceutical companies did not invest in developing drugs and treatments for these conditions. The drugs used to treat rare diseases are known as orphan drugs. According to Professor Buckley, the term often reflects the fact that these drugs have been neglected.

However, in 2000 the EU orphan drug regulation was adopted, the main aim of which was to encourage the pharmaceutical industry to become more involved in developing drugs for rare diseases. It is hoped to achieve this by providing a number of incentives, including ten-year marketing exclusively on any product. We know when the patents are lifted on drugs. Perhaps the Minister would examine the drugs for rare diseases and advise that the patents continue. I do not know if that is advisable but a taskforce could be asked to examine the issue because it would be an incentive for the drugs company to ensure that the most up-to-date drugs were available and kept on the market. I would argue the exact opposite for taking the patent off of the drugs in normal circumstances but this is a special circumstance.

This regulation has arguably led to some success in this field in both small or bio-technology companies and larger pharmaceutical companies. The large pharmaceutical company, Pfizer, created an orphan drug research division this year and should be complimented for doing so. However, as with everything, the development of the orphan drug and the treatment of people with rare diseases are being affected by worldwide recession and this can be seen clearly.

There are geographical inequalities. It is clear that a person with cystic fibrosis living beside St. Vincent's Hospital is at a much better advantage than a person who lives far away. It is the same for others diseases. A national rare disease office should come into play to co-ordinate the care for patients who suffer from this rare disease. Given that almost 250,000 people are affected, I support the call 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 at Our Lady's Children's Hospital.

Since coming to office, the Minister has been proactive on this issue. As he has set up the taskforce I await its report. When does the Minister expect the report to be available?