Pauline Tully (Cavan-Monaghan, Sinn Fein) | Oireachtas source

I welcome the preparation of a rare disease plan, but this should have been commenced long before now. The current plan is six years out of date, because the time period for its implementation was between 2014 and 2018. More than one third of people with rare diseases in Ireland have had to wait more than five years for a diagnosis.

Currently, in Ireland, only nine conditions are included in the newborn bloodspot screening programme, while many other countries screen up to 20 conditions. I am aware that approval for the inclusion of two more conditions, namely, SMA and SCID, has been given and this is welcome. Yet, waiting for years for diagnosis can be deadly for many people with severe forms of rare diseases, including SMA and SCID. These can both lead to death by the age of two, without early diagnosis and treatment.

An expansion of the newborn bloodspot screening programme should be commenced. However, HIQA has stated that it is not anticipated that screening for SMA and SCID will commence prior to the opening of the national children's hospital, which is now not projected to open until at least the second quarter of 2025, long after the Minister’s implementation deadline this year.

An average of six babies are born in Ireland every year with SMA and these babies cannot afford further delays to the implementation of screening. What steps are being taken by the Department of Health to ensure that newborn babies are screened for these conditions in this year, 2024, as committed to by the Minister, considering the fact that the new lab, which will be located in the new national children's hospital, will not be ready until at least the second quarter of 2025? What consideration has been given by the Department for an interim solution to screen newborn babies for these conditions in order to bridge the gap between this year and the opening of the new hospital?

Another rare disease I want to mention is epidermolysis bullosa, EB, which is a rare skin disease affecting approximately 300 people in Ireland. Those with the more severe form of EB endure excruciating pain daily. It is debilitating for all of those affected. Supports, such as an EB-specific bandaging and dressing materials scheme, mental health supports and home nursing care, would make a huge difference to those with the condition, as would mental health supports for the families who are supporting them. I believe this condition is not included in the long-term illness scheme either, and I ask why a life-long condition with no cure is not included. This is something that could be taken into consideration by the Minister.

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