Billy Kelleher (Cork North Central, Fianna Fail) | Oireachtas source

On foot of reading the rare diseases report it is evident we have a lot to do as we are starting from a very low base. What is needed is a commitment that it should be done and resourcing of same to ensure it is done. That in itself will be a huge undertaking but it should not deter us from doing what we need to do and what is right. A few issues arise from the report and the presentations. We talk about rare diseases. They may be rare but, collectively, they are substantial in number. This is evident across the European Union also. I often wonder why there is not more transnational collaboration between national bodies and research institutes. Ireland has a population of less than 1% of the European population. Will we have enough critical mass to do our own research and the necessary support and capacity? I wonder if we are slow and reluctant as a nation to collaborate in a meaningful planned way through national governments and national agencies on a one to one basis. There is a great deal of work that could and should be done. That is not only in the context of also in the area of treatment and providing supports. Certainly the national rare diseases offices and its equivalents across Europe must come together in a more defined targeted way.

Research is scattered. However, there must be some way of pooling it together between industry, hospitals and universities coming together in a more collaborative way. We all understand that research is secretive in nature initially but there should be a better pooling of resources.

I spoke in the House last week on the national centre for medical genetics. I am still unclear about it. What has happened to it? Why has it gone? I would have assumed at this stage that we would have understood its importance, through the advances in medical science, embryology, stem cell research and so on and the assessment of genetics and chromosomes, and that we would be trying to enhance our national genetics office, not trying to undermine it. What is happening? When I raised it in the House, to be truthful I got a very poor answer. If we are serious and if there is a commitment to a national rare diseases office one of the singular largest elements of rare diseases is the whole issue of genetics. Therefore, genetics and genetics testing should be a central focal point. I would greatly appreciate answers on that issue.

I have been looking at the list of rare diseases. The vast majority of them, 80%, are genetic. I would appreciate some information on the reason the national rare diseases office has disappeared, was undermined or chastised. Something has happened to it as a centre and we should address it.

Many Deputies and Senators would have been on the journey with families from time to time where a family gets a diagnosis of a rare disease and the system is unable to say exactly what it is. There may have been some time before the diagnosis but when it comes the system cannot support them well initially and the family is left very much on its own, other than goodwill support. Often they trawl through the Internet and reams of research data to try to find answers. It is a cling to hope and it can be a very difficult journey. In that context while we have a proposal for a national rare diseases office, is there any way in which to humanise the bureaucracy through the system? I appreciate it is difficult to humanise bureaucracy. It can be harsh at times, not intentionally, because of its bureaucratic nature, particularly with families and individuals with rare diseases in practical areas, such as the kiting out of houses, and the willingness of a bureaucracy or the HSE to help the local general practitioner get that extra training to assist a patient who may be the only one he or she will have with that rare disease. We should look at the issue from the top down but also assist general practitioners and nurse specialists in communities from time to time when one patient or one family has a specific illness or disease. If that were done it might help alleviate some of the pressures on families from time to time.