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

I welcome the witnesses and thank them for their presentations. There are several issues which have to be discussed and teased out on a broader basis. One relates to the support for individual families and the difficulties they face on a daily basis in dealing with rare diseases. Another issue is how to fund and put in place a proper system whereby we can have collaborative research and transnational co-operation in terms of diagnostics and treatments.

It is fair to say that since we are discussing rare diseases the topic does not have the same impact as others. This is because many small groups have amalgamated to make a large group, which is disparate by its nature. It can be insular and isolated in terms of people dealing with these issues.

Do we have the capacity in this country to carry out and support research and then move into diagnostics and treatment? Do we have the capacity to deal with all of the various rare diseases in the country or do we need to accept that we need to be collaborative in our approach with Northern Ireland, the United Kingdom and Europe? Should we accept that and try to put in place structures that will make it seamless, efficient and humane for the people who will need to be diagnosed and who will need to access treatment? Although we would like to see services available in Ireland, is it always feasible, possible, practical and affordable? Unfortunately, at the end of the day everything must be addressed around that consideration. I am keen to hear some thoughts on that.

Reference has been made to basic research. For years we criticised researchers, including those in universities and research institutes throughout the country because they were not moving to a spin-out system whereby research is put into a commercial venture at some stage. Perhaps we have gone to the extreme in this area whereby we are now forcing people to agree that research must be commercialised as quickly as possible for financial gain. Is basic research being undermined in our universities and research institutes throughout the country and further afield, including Europe? Is research primarily focused on commercial outcomes as opposed to the basic research principle? I am keen to hear some thoughts on that, especially from Dr. Seán Ennis.

We speak a good deal about primary care and this is how we intend to deliver care in the future in this country. The funding we are providing for primary care certainly does not match up with the statements of intent. How do we expect general practitioners to have a basic knowledge of up to 8,000 rare diseases? How can we expect primary care teams to have a basic knowledge? How do we expect primary care teams to be able to identify where patients should go for diagnostics? Do we have sufficient consultants? Have we the capability or the number of consultants on this island to be able to assist our primary care teams and GPs, who are at the coalface day in, day out in terms of dealing with rare diseases?

We have all heard anecdotal evidence and personal statements from individuals whose family members have been affected by rare diseases. One of the major challenges has been to get the diagnosis. For years parents were almost vilified in their own minds and thought there was something wrong with them because they believed there was something wrong with their child. That put considerable stress and pressures on individuals and families.

The bottom line is, unfortunately, that everything is resource dependent. I dislike being blunt on the matter and, from an Opposition Deputy's point of view, it is always easier to say the opposite. However, the key issue is whether we need to be more collaborative throughout Europe not only in terms of the diagnostics but also in terms of the treatments. Is it always feasible to have the treatments on this island? I am keen for some clarity on that issue.

The issue of paediatric home carers is a very sensitive area and we need highly-qualified clinicians. It is not simply a case of putting a person into the home to look after children. We need well-trained clinicians who can support the family as part of home care paediatric packages. Do we need to begin to accept that at present our clinicians need further training? Do we need to enhance their capacity to support individuals who have rare diseases as well as their families?