28 June 2022 marks World Newborn Screening Day. SMA Ireland is marking this occasion to raise awareness regarding Spinal Muscular Atrophy and the newborn heel prick test in Ireland.
Each year in Ireland, six babies are born with the neuromuscular condition Spinal Muscular Atrophy. This degenerative condition means that most affected will never walk, and left untreated 95% of children with the severest form do not live past 24 months.
Thankfully there have been significant advances in drug treatments for SMA over the past five years. These medicines have the potential to dramatically alter the prognosis for those that receive them. They represent a significant step forward for the treatment of SMA in Ireland, and the fact that they are reimbursed is something that we should all be proud of.
Clinical data proves that the earlier a patient receives treatment for SMA, the better the outcome. Many children born with the disease do not present with symptoms until 12 months or even later. Regrettably it is often the case that by the time an accurate diagnosis is made, significant neuromuscular damage has already been done. Receiving one of the SMA medicines makes a significant difference, but for living motor neurons.
Things do not have to be this bleak! There is a simple PCR type test that can diagnose SMA with near-perfect accuracy from a spot of blood. Each year in Ireland, approximately 60,000 babies are born. Each of these children receives the heel prick test for a very small number of serious medical conditions. It is possible to add SMA to this list for an additional cost of just €5.00 per individual.
Ireland led the way with newborn screening when it introduced the heel prick test in the 1960s. Unfortunately, in the years that have followed we have failed to keep up with our European peers and Ireland now trails 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 asking for SMA to be added to the heel prick test. This submission was favourably received, however six months later we are still waiting for SMA to be formally slated for inclusion.
The HSE has clearly signalled that SMA is a condition that should be treated, and considerable resources are put towards this endeavour each year. However, by not adding SMA 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 so much more effective if each child was to receive it at the very beginning.
SMA Ireland wants to make sure that the next child born with this disease is diagnosed promptly and treated immediately. Anything less an unnecessary and cruel injustice. The status quo makes no sense ethically or financially. We can change this for the better, and the lives of future children born with SMA.