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Health Minister Jennifer Carroll MacNeill described the test addition as "a significant milestone". Alamy Stock Photo

Newborn heel prick tests expanded to include 'life-changing' spinal muscular atrophy screening

A number of babies have already been tested under the expanded programme.

TESTING FOR SPINAL Muscular Atrophy (SMA) is now being offered to every newborn in Ireland for the first time, in a move widely welcomed by families and campaigners.

The screening, introduced as part of the national heel prick test, means babies can now be tested for SMA within days of birth, allowing for early intervention in a condition where timing is critical.

SMA is a rare genetic disorder that causes severe muscle degeneration and can be fatal in early childhood in its most serious form. Symptoms often appear within the first months of life, but diagnosis has traditionally taken longer, by which point irreversible damage may already have occurred.

The addition of SMA, alongside Severe Combined Immunodeficiency (SCID), brings the total number of conditions screened under Ireland’s newborn bloodspot programme to 11.

Minister for Health Jennifer Carroll MacNeill described the development as a “significant milestone”, saying early detection can lead to “vastly improved outcomes” for affected children.

“I know it will be very welcome news for families all over Ireland,” MacNeill said.

Advocacy group SMA Ireland, which has long campaigned for the change, said the first babies have already been tested under the expanded programme.

SMA Ireland’s director Jonathan O’Grady said the move marks a “truly historic day” for families.

“Early detection is critical with SMA and including it in the heel prick test provides the opportunity of timely intervention, offering a more hopeful outlook for babies and their families,” O’Grady said.

Each year, an estimated six babies are born with SMA in Ireland.

While new treatments have significantly improved outcomes, they are most effective when administered before symptoms begin.

For families, the difference early diagnosis can make is profound. Parents Liz McMahon and Dave Ryan, who have two sons with SMA, said earlier testing could be “life-changing”.

Their eldest son Luke was diagnosed at eight weeks old, but had already suffered irreversible damage. Their younger son Sean, diagnosed before birth and treated immediately, is now living without disabilities.

“Knowing that every baby will now be screened means other families will not have to endure that uncertainty. Screening gives children the best chance from the very beginning,” McMahon said.

The new programme has a participation rate of almost 100%.

Campaigners say the move also represents progress for the estimated 300,000 people in Ireland living with rare diseases, and are hopeful further conditions will be added in future.

Public awareness of SMA has grown internationally in recent months, with former Little Mix singer Jesy Nelson previously calling for wider newborn screening after her twin daughters were diagnosed with the condition.

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