Sandra McLellan (Cork East, Sinn Fein) | Oireachtas source

I welcome the witnesses and thank them for their comprehensive presentations and for sharing their personal experiences. With regard to staffing at the rare diseases office, an administrator on 0.3 of a whole-time equivalent is only working 13 hours per week. That is not even sufficient time to open e-mails or letters. Given that there are between 6,000 and 8,000 rare diseases, it is shocking.

The witnesses clearly outlined what needs to be done.

It all sounds very simple and extremely logical. We just need to get to that point. I was very interested and grateful to hear about the life-changing implications for families and how these situations can affect people financially. There is a major lack of understanding as to how rare diseases can impact a family, which has implications for how that impact is assessed.

According to the national rare disease plan, between one in four and one in five rare disease patients wait more than a year for assessment by an appropriate specialist in rare diseases. Respondents, not surprisingly, felt an appointment with a specialist should follow within three months, which is quite logical. For people with rare diseases, the trauma of not knowing what is wrong with them is made much worse by having to wait a year to see a specialist. That is not in any way acceptable.

I have a number of questions regarding cystic fibrosis treatment which I am hoping one of the delegates might be able to answer. How many children in Ireland are being treated under the trials of the ground-breaking drug, Kalydeco? We know this medication can lead to significant improvements for patients with a particular mutation of CF. Can any of the delegates provide an update on the trial participants' progress? Have there, for example, been any side effects? Are there any plans to extend the provision of the drug to other CF sufferers? When are the trials scheduled to continue and does length of time of treatment vary from child to child or from age group to age group? How will it be determined when a person should be taken off Kalydeco? I am not sure whether the delegates can answer those questions, but I would be delighted if any of them can.