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

The presentations this morning have been very impressive. The message that the deputations have delivered not only in terms of what we need to provide but in the great hope that underlies all of what they have had to say is of great importance. I hope that on the eve of international rare disease day the broad media will take on board this morning's session of the Joint Committee on Health and Children and report it appropriately. Too often, the work of this committee is overlooked and I believe that is doing a disservice, particularly to the significant body of people, including many young people among that number, that each of the deputations represent.

At the outset of Ms Lawlor's contribution she referred to the condition not affecting the ability of a child, adolescent or even an older life to participate but that it was a lack of support that excludes them from education and employment opportunities. She said this was of great concern to the Genetic and Rare Disorders Organisation. Will Ms Lawlor elaborate on these areas of support to prime us, as elected voices in these Houses and not only in this committee? What supports might open a door to education and employment for young people or older people who are currently excluded from either of those options in life?

Reference was made to the lack of awareness of rare conditions among health care professionals, including the family general practitioner. Often, the GP is the first line of engagement. This is a major area and it is very important. I could be repeating a question I asked two years ago but has there been ongoing engagement with the Irish Medical Organisation, the Irish College of General Practitioners or the National Association of General Practitioners to prime them to fine tune their awareness of this area in order that they can, in turn, impact on their respective memberships? Most of the memberships would be dual, with the IMO being the most likely overarching body since it represents the greater number. In that regard GPs are a first point of contact. What steps have been taken or can now be taken to try to improve that awareness?

The deputations highlighted several points in their presentations which we can take up as elected voices. These included the point about the genetic test and that so many samples continue to be sent abroad, with the cost this represents something in the region of €1.5 million per annum. All too sadly the economic end of today's life and the cost of things is of major importance.

The one message that is clear, and I welcome Professor Treacy's strong indication of it, is the need for the establishment of a national office for rare diseases, and that this would be a core proposal of the programme to be presented later this spring. This committee is cross party, with independent voices, but invariably, thinking as human beings about the great leveller that is health, we set aside our political differences to ensure that improvements are brought about. This certainly is the big message out of today's engagement; the establishment of a national centre for rare diseases which is properly resourced. Resourcing is of major importance.

It is absolutely marvellous that the academic centre on rare diseases now has formal recognition as of last June. While I do not intend to respond to my colleagues' earlier points, we would all see research for the answers as part of a global collaboration, but Dr. Ennis's particular focus is on the Irish Traveller population. It is very unlikely that others elsewhere on this Earth will set about that particular body of work, so it is wonderful that he and his colleagues are doing that. I wish them every good luck with their continued research.

We tend sometimes to think that we are behind the queue with new ideas and finding the answers, but Professor Treacy rightly makes the point that a lack of recognition in health care systems is across Europe. The GP issue to which I referred is not just confined to an Irish experience, and it is understandable given the rarity of some of the cases. When we look at the numbers of people impacted by rare diseases, such as 374 people with Rett syndrome and those with CDKL5 and the various other rare diseases that present, together they make up a significant body of our population and we need to be mindful of that.

I wished to refer to a number of other points, but the clock is beating me. Ms Dempsey spoke about the Special Needs Parents Association. While one would not think that SNPA would have neat fit in this panel, what we were told this morning demonstrates that it is not just SWAN - syndromes without a name - but those are parents of very small numbers of children with incidents of rare disease to which Ms Dempsey's organisation has provided great support. I would like to acknowledge that. I have met parents, including in this institution, who acknowledge that and I would like to record our thanks to Ms Dempsey for that.

There is a psychological impact of waiting for answers over lengthy periods. I am a parent myself and have found it difficult enough coping as a parent without the additional challenge of the uncertainty and the dark space of not knowing what is wrong with my child. That is something we all need to take on board.

Mr. Declan McPhillips is a neighbour and he and his wife Marie are friends of mine. I want to say as a neighbour and a friend that I was never more proud of you than today. Well done. Go raibh maith agat, a Chathaoirligh.