Caoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein) | Oireachtas source

I welcome not only the panellists but all our guests. It was a wonderful idea to dedicate a day in the year to international rare diseases because it has allowed us to have hook on which to hang this focus. The focus might not happen only but for it. I thank all my colleagues on the committee for the support annually in this address.

In her presentation - I am not making a distinction one from the other as they were all very informative - Ms Avril Daly talks about a dedicated facility. When she talks about a dedicated facility she describes a facility to co-ordinate the information flow, the provision of expertise locally, regionally and internationally to a national co-ordinating centre. The centre or office will be responsible for developing appropriate pathways of care and would undertake epidemiological work, be equipped with appropriate IT infrastructures and co-ordinated information systems, to allow for the development of registers that will enable better planning of services and facilitate the development of research infrastructures.

Does that equate with the national office for rare diseases? It should but I do not know from the outline. I ask Mr. John Devlin and Ms Helen Byrne as I am not certain that what Ms Avril Daly has said, and that I believe is needed, is what is actually in the plan. We received correspondence here and my colleague Senator Colm Burke referred to it a week ago that the national office is getting ready. It cannot happen soon enough.

The staff for the office would be one wholetime equivalent information scientist, one wholetime equivalent genetic counsellor, 0.3 wholetime equivalent consultant geneticist and 0.5 wholetime equivalent administrative support - I wonder what half of it would be? Given what is outlined here I hope Mr. John Devlin will be able to advise that this is just the initial commitment because it does not equate with what I believe - and what I believe all who are interested in a real and serious focus on rare diseases know - is required. I hope that what Ms Avril Daly has described is where we are going to get to. I would appreciate if he would advise what is the real plan relating to the national office because there are so many aspects of what is needed that are not signalled at this point.

The registries are vital. I strongly concur with an all-island approach given that I have spent my lifetime 4 miles from the Border. The people I know within my catchment area all bear the same names, face the same problems and are part of the same genetic make up as each and every one of us. Many of the representative organisations are structured on an all-island basis and it is very important that this co-operation is there or we will not get the full picture. We need to get an all-island picture. Will the national office help to develop these registries? I would expect that some of that work would require more than the scientist and the counsellor. The administrative staff would be taking on a lot of this work in respect of the IT requirements. This database is a vital part of everything that is needed.

We no longer have a national centre for medical genetics. I understand that Our Lady's Children's Hospital, Crumlin has downgraded the national centre for medical genetics to a department within the hospital. Is this the case? Can we get information about its status? Given the fact that the greater number of rare diseases are genetically based, why are we seeing the downgrading, if not the elimination, of the only medical genetics department we have had up to now at a time when we are seeking to seriously address the deficiencies relating to rare diseases through the establishment of a national office?

There seems to be no oversight relating to the national rare disease plan for Ireland. There is no oversight committee. Is this under consideration? Will it be introduced? With all of the attention, why was there almost no referencing to national rare diseases, let alone the office in the HSE service plan for 2015? This baffles me and I am still at a loss as to why it would not have been a critical part of it if this was a serious attempt to address the issues surrounding rare diseases.

I thank Mr. Heffernan in respect of all the work that is being done. As a parent with direct experience, his testimony today is very important and striking. There are many points I would like to explore with him but there is one he referred to that is particular to him. It relates to what the diagnosis of a rare disease within a family means in so many ways. It is not only the terrible tragedy of the onset of that news but, as Mr. Heffernan says, the consequential difficulties that present relating to employment and financial security for him, his wife and his family. This area needs to be addressed and we need a joined-up response to situations of particular difficulty and hardship that occur when a rare disease presents in a family. I thank Mr. Heffernan for drawing attention to that this morning.