Newborn heel prick test expanded for two more rare conditions

"Screening gives children the best chance from the very beginning."

The screening was introduced as part of the national heel prick test, enabling babies to be tested for SMA within days of birth.

The move has been widely welcomed by families and campaigners, as it allows for early intervention in a condition where every moment counts.

SMA is a rare genetic disorder that causes severe muscle degeneration and can even be fatal in early childhood in its most serious form.

Symptoms often appear within the first few months of life, but diagnosis has traditionally taken longer, by which point irreversible damage may already have occurred.

The inclusion of SMA, together with Severe Combined Immunodeficiency (SCID), increases the total number of conditions tested for under Ireland’s newborn bloodspot screening programme to 11.

Jennifer Carroll MacNeill, the Minister for Health, described the development as a "significant milestone", claiming 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.

According to advocacy group SMA Ireland, 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.

Approximately six babies are born with SMA in Ireland every year.

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

The difference early diagnosis can make is profound. According to parents Liz McMahon and Dave Ryan, who have two sons with SMA, earlier testing could be “life-changing”.

Liz and Dave's eldest son, Luke, was diagnosed with SMA at just eight weeks old, but had already suffered irreversible damage. Their youngest son, Sean, was diagnosed before birth and was treated immediately, and is now living without any 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 an uptake rate of nearly 100%.

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