Jillian van Turnhout (Independent) | Oireachtas source

I welcome all the witnesses. The fact that we have a day each year to focus gives this committee an opportunity to focus on the issue, although we have other encounters during the year. In preparing for today, I looked back at the meeting of 15 January when the Huntington's Disease Association of Ireland appeared before us and raised some very important issues, as the witnesses today have done. Ms Daly's words about how rare does not mean few rang true. When one looks at the figures, one sees that they are significant and that it is a significant health issue. When I see the number of children who are directly affected due to the prevalence in childhood and the number of children who die before their fifth birthday, it makes me wonder where we should be going. This is where I come to Mr. Heffernan's presentation. I am a bit like him in the sense that I want to see implementation and action. It reminds me of the last time Ireland was before the United Nations Committee on the Rights of the Child. The committee said we were very good on paper but had issues about implementation. This is where I would like to focus. The Children's Rights Alliance produced a report at the time called From Rhetoric to Rights that dealt with how we ensure these rights are realised.

Mr. Heffernan raised a point about the oversight committee and said that the committee must include the previous members of the steering group as a minimum. Why is there a question over that? Perhaps there could be an explanation as to what is happening in the process of the oversight implementation group. It is very important that it would bring together the expertise so I would be interested in knowing more about that. In reading the plan, I assumed the implementation group was there because we need to move to the implementation phase. I would like to know what is happening because it is very important.

I raised the issue of genetics with the Huntington's Disease Association of Ireland. Is a genetics unit planned within the new national children's hospital. My understanding is that there should be but I would like to know whether organisations individually or the HSE have been involved in the scoping relating to rare diseases and the needs assessment for the national children's hospital relating to rare diseases. This is not just in the location because I understand based on a visit by the committee to the hospital that it will have satellite and services linked to the hospital. I am looking at the wider remit of the national children's hospital and the co-ordinated supports it will provide rather than just the physical premises. Have organisations been involved in any scoping or needs assessment? It is critical that they are involved at this stage.

Another issue that was raised with me was the need for a credible source of information. What developments are happening on that side? We all turn to the Internet even though we know that we will not get a diagnosis but sometimes it is the only place where one may get answers. I know that when we visit medical services and medical services try to convey information to us, we do not always take in all the information so we go home and try to research and find out more. Rare diseases by their nature are rare so how do people find that information in a co-ordinated way? The witnesses have raised those issues. What steps are there for Irish parents because I see the pressures on the support groups and NGOs? We get testimony after testimony about the important work that is being done by advocates working in the area, usually parents who have been through the process and are, therefore, able to translate and understand what this parent or individual is going through.

Mr. Heffernan spoke about Liam's Lodge which is to be applauded. Has there been any State involvement or interest in what the Saoirse Foundation is trying to do in developing Liam's Lodge? Anybody I know sings the praises of BUMBLEance. We must all strive harder to provide this environment at what is potentially such a scary time for a child. We have raised with the national children's hospital the fact that it is an issue for children throughout their childhood.

We are not just dealing with very young children. Teenagers will also have rare diseases.