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

Last Tuesday, 28 June, marked world newborn screening day. I initially submitted this Topical Issue matter last week to coincide with that date after a parent who has two children with spinal muscular atrophy, SMA, contacted me and asked me to ask the Minister for Health a very simple question: why is there a continued delay in adding spinal muscular atrophy to the conditions tested for in the newborn heel prick test? We need progress on this important issue without further delay.

Each year in Ireland, an average of six babies are born with the neuromuscular condition, SMA. This degenerative condition means that most who are affected will never walk. Left untreated, 95% of children with the severest form do not live past 24 months. There are different levels of severity of the condition. We should be thankful that there have been significant advances in drug treatments for SMA over the past five years and that these medicines have the potential to dramatically alter the prognosis for those who receive them. They represent a significant step forward for the treatment of SMA in Ireland. Clinical data prove that the earlier a patient receives treatment for SMA, the better the outcome will be. Many children born with the disease do not present with symptoms until the age of 12 months or later. Regrettably, it is often the case that, by the time an accurate diagnosis is made, significant neuromuscular damage has been done. Receiving one of the SMA medicines makes a significant difference but, again, the earlier it is administered, the greater that difference will be.

A simple PCR test can diagnose SMA with near perfect accuracy from a spot of blood. Each year, approximately 60,000 babies are born in Ireland and each of these receives the heel prick test for a small number of serious medical conditions. It is possible to add SMA to this list for an additional cost of just €5 per individual. Ireland led the way in newborn screening when it introduced the heel prick test in the 1960s but in the years that have followed we have unfortunately failed to keep up with our European peers and now trail in the newborn screening league tables.

In December 2021, SMA Ireland, the representative group for people affected by spinal muscular atrophy in Ireland, wrote to the newborn screening advisory committee to ask for SMA to be screened for in the heel prick test. This submission was looked upon favourably but six months later the group is still waiting for SMA to be formally included. The HSE has clearly signalled that SMA is a condition that should be treated. Considerable resources are directed towards this endeavour every year. However, as a result of SMA not being added to the heel prick test, children are not being diagnosed at the earliest possible opportunity. Precious months are being lost. The medicine is eventually administered but it would be much more effective if each child received it at the very beginning. The status quo makes no sense ethically or financially. I ask that SMA be immediately added to the list of conditions tested for as part of the heel prick test.

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