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'Timing is key': Parents call for inclusion of rare genetic disease in newborn heel prick test

SMA is a degenerative disease that causes damage to nerves that develop muscle function and allow children to eat, move and breathe.

Seán (2) and Luke Ryan (4), who have Spinal Muscular Atrophy (SMA).
Seán (2) and Luke Ryan (4), who have Spinal Muscular Atrophy (SMA).
Image: Fran Veale

THE PARENTS OF two boys with Spinal Muscular Atrophy (SMA) are calling on the government to add the condition to the heel prick test for newborn babies to ensure early diagnosis and treatment.

SMA is a degenerative disease, the most severe form of which is SMA Type I, which is also the most common. Without treatment and ventilatory support, 90% of children with SMA Type 1 will die before the age of two.

Around six babies each year in Ireland will be diagnosed with SMA.

Clinicians have said that by the time children begin to show symptoms and get a diagnosis, which might happen at around three to four months of age, irreversible damage will have been done to the nerves that develop muscle function and allow children to eat, move and breathe.

Liz McMahon and David Ryan, parents of Luke and Seán Ryan, are calling on the government to include this condition in newborn screening.

Luke’s SMA was diagnosed when he was eight weeks’ old and treatment started at nine weeks. The now four-year-old cannot walk – and is never expected to walk – and has to be tube fed. He requires round the clock care, including a night nurse seven days a week.

His younger brother Seán, who was tested before birth, began receiving treatment at 10 days old and lives a largely normal life.

Speaking to The Journal, Liz McMahon said the experience with her two boys demonstrates the importance of early diagnosis and treatment. With Luke, his symptoms only began to show when he was around five weeks old and by the time he was diagnosed the condition had already done significant damage, she said.

Seán, on the other hand, was pre-symptomatic when his treatment started. He received the one-off gene therapy infusion Zolgensma, which his mother said has had incredible results. 

“Seán is two-and-a-half now and he’s walking around, eating, drinking, doing all of the things that a two-and-a-half year old should be doing,” she said.

Timing is key here, we can see that if it’s treated when they are pre-symptomatic they can have a normal life and outlook and future. The effect SMA has had on Luke means life for Luke will be much more challenging. 

“When I talk about the boys and I look at them and see how well Seán is doing and how challenging life is for Luke I always think ‘if only he got treatment that young’. That’s why it needs to be added to the heel prick test, parents shouldn’t have to think ‘if only’, and wonder how different things would be if it had been identified earlier.

“It seems to be a simple change and it would save a lot of heartache for children and families in this country.”

26062022_JB1-37 Liz McMahon and David Ryan with their sons Luke (4) and Seán (2). Source: Fran Veale

Cost savings

McMahon said the cost of adding SMA to this test is estimated to be €300,000 per year. 

“When you think of the overall budget that’s a drop in the ocean,” she said. “It’s a small price to pay to give children a quality of life.

“If you look at cost, Seán’s treatment was expensive – around €2 million I think. But if you compare that to Luke, who’s had numerous hospital stays, a longterm stay in ICU as a baby, all of the administration, the nurse in-house seven nights a week and all of the additional interventions and therapies he needs, the costs are well beyond that. In the long-run it would be a saving for the government.”

The inclusion of the condition in the heel prick test is supported by clinicians who specialise in this area, who have highlighted the importance of early diagnosis and treatment for the quality of life of children with SMA. 

Professor Declan O’Rourke, Consultant Paediatric Neurologist in Children’s Health Ireland at Temple Street said there are now several treatments available for SMA, which have “completely changed the landscape” for treatment of the condition in Ireland.

“Some treatments however cannot be administered to children over the weight of a typical two year old, and in some cases these patients will have developed antibodies that means they are unsuitable for treatment,” he said.

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“Early diagnosis and intervention is therefore critical. Children’s Health Ireland strongly supports the addition of SMA to the national newborn screening program.”

Expansion of programme

Health Minister Stephen Donnelly was recently asked about the possibility of including the condition in the test – known officially as the National Newborn Bloodspot (NBS) Programme.

In response to questions from Fine Gael TDs Neale Richmond and Michael Creed, he said the expansion of this programme is a priority for him and the  National Screening Advisory Committee (NSAC) has been progressing work on this.

A ninth condition, ADA-SCID (Adenosine Deaminase Deficiency Severe Combined Immunodeficiency), was added to the NBS programme on 23 May this year.

The minister said the NSAC has commissioned the Health Information and Quality Authority (Hiqa) to undertake a  health technology assessment looking at the addition of other SCID types to the NBS programme. He said he expects to receive a recommendation from the committee on this condition after the process is finalised later this year.

“Given that this is a complex area, careful consideration must be given to the expansion of the NBS programme and these things can take time, however, it is important that decisions are made based on internationally accepted criteria and scientific rigour,” he said.

“I am aware of how difficult it is for parents whose children have received a diagnosis of a rare disease, and how challenging daily life can be for them, their families and their children.

“It can be an overwhelming situation and can be very isolating for many families because of the significant work that is involved when a rare disease is diagnosed. I am committed to the further expansion of newborn screening in Ireland and in identifying opportunities for future additions to it.”

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