Call for newborn heel prick test to be expanded to more rare diseases

Luke (4) and Seán Ryan (2). It took nine weeks to diagnose Luke with spinal muscular atrophy (SMA), a rare disease which affects around six newborns in Ireland each year.  Photo: Fran Veale/Julien Behal Photography

Ireland has "taken the foot off the pedal" when it comes to testing for rare diseases, going from being a world leader to being "leapfrogged" by other countries.

That is according to advocacy organisation Rare Diseases Ireland, who have joined families in calling for newborn testing to catch up to the likes of Italy, which tests for more than 40 rare diseases at birth. Ireland tests for nine.

It took nine weeks to diagnose Luke Ryan with spinal muscular atrophy (SMA), a rare disease which affects around six newborns in Ireland each year. Early diagnosis is critical for SMA and irreversible damage typically happens before any symptoms show. For Luke, the disease was caught too late.

A child is born with a rare disease almost every week in Ireland, but the health service is lagging behind in testing at birth, according to Rare Diseases Ireland. The organisation called for a reform of the National Screening Advisory Committee (NSAC) as it marked International Neonatal Screening Awareness Day on Tuesday.

Luke, aged 4, lives with his family in Mornington, Co. Meath. He is a wheelchair user, uses a ventilator when he sleeps, a nurse stays in his bedroom every night and he has rods in his back to help with his scoliosis. Luke receives a general anaesthetic once every four months to undergo a lumber puncture which is key to his SMA treatment.

“Treating people pre-symptomatic is key,” said Luke’s mother Liz McMahon. “If they catch it before they start showing symptoms, it’s like they put a full stop on it and the symptoms don’t develop.” 

Luke’s two-year-old brother Seán was diagnosed almost immediately after doctors knew to test for the rare disease. However, Ireland does not test for SMA on the heel prick test received by newborns across the country at birth.

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Ms McMahon is calling on the National Screening Advisory Committee (NSAC) to add SMA to the heel prick test newborns receive to test for rare diseases. After receiving a once-off treatment of Zolgensma, a life-saving new drug, Seán avoided the issues his older brother has.

When Ms McMahon looks at the difference between Luke and Seán’s quality of life, she thinks “if only it was included in the heel prick test, if only he got the drug pre-symptomatic like Seán did”.

A recent survey by Rare Diseases Ireland has found that at least 150 newborn babies in Ireland were not diagnosed with life-threatening diseases over the past three years. It would cost an estimated €5 extra per test for SMA to be added to the heel prick test.

Vicky McGrath, chief executive of Rare Diseases Ireland, said Ireland used to be a world leader in this area but “took the foot off the pedal”. Italy “leapfrogged” the rest of Europe in recent years and now tests for more than 40 rare diseases at birth, while Ireland recently increased its figure to nine.

“The work of NSAC while it’s good, it’s just not good enough. It’s just not picking up the pace like we would expect it to,” she said.