Urgent: SMA Test Delays Robbing Babies of Quality of Life

Bróna and Brian Noonan’s four-year-old son Donnacha was hospitalised six times last year, twice being admitted to intensive care. At 12-weeks-old, Donnacha was diagnosed with spinal muscular atrophy (SMA) type 1, a rare genetic condition that increases his risk of severe respiratory illness due to muscle weakness. SMA made headlines this month after former Little Mix singer Jesy Nelson explained on social media that her twin daughters had received the same diagnosis following months of “gruelling” hospital appointments. In making her story public, Nelson said she hoped to raise awareness because “time is of the essence” with SMA. It is estimated that about six babies are born in Ireland every year with the condition, of which type 1 is the most severe and common form. The Noonans, from Edgeworthstown in Co Longford, are one of several families calling for the inclusion of SMA in the newborn “heel prick test”, more than two years after its inclusion was announced by then minister for health Stephen Donnelly. In November 2023, Donnelly said the addition of SMA to the National Newborn Bloodspot Screening Programme would be likely to take place the following year, but it has not yet happened. In response to queries, the HSE said the move was “in the final stages”, with the necessary testing equipment “purchased, delivered and successfully installed at the newborn screening laboratory, and significant progress continues with regards to the laboratory verification process”. The recruitment process to hire the additional staff has also been completed, it said, but did not specify a timeline for delivery. Dr Declan O’Rourke, consultant paediatric neurologist at Temple Street Hospital, says SMA screening is “very close” to being rolled out, estimating its addition “by the end of March”. It will join Severe Combined Immunodeficiency in the National Newborn Bloodspot Screening Programme expansion, which, when implemented, will bring the number of conditions screened for in Ireland to 11. Noonan says that at “just shy of 16-weeks-old” Donnacha was treated with Zolgensma, a gene therapy which had been approved for reimbursement in Ireland two weeks before his diagnosis. Due to the high cost, the one-time intravenous infusion is only administered to children under two with severe SMA. Noonan says the “endless amounts of money that are going to accumulate as he grows older” from hospital visits, equipment, and speech and occupational therapies would have been “avoidable” if Donnacha had received an earlier diagnosis. “He got RSV [Respiratory Syncytial Virus] this Christmas and my one-year-old daughter got RSV as well and all she had was a cough ... It’s just a stark difference,” she says. Pre-screening for SMA in Donnacha’s sister, Síofra, came back negative. The heel prick test will facilitate crucial early identification of SMA, says Dr O’Rourke. “If we can treat a child pre-symptomatically, then independent walking with little to no evidence of muscle weakness is a realistic outcome measure – and that’s a pretty phenomenal result, being able to offset neurodegeneration.” SMA Ireland director Jonathan O’Grady was diagnosed with type 2 when he was eight years old. He is now 52. “In 1973 there was no genetic testing, and I wasn’t diagnosed formally until 1982,” says O’Grady, who lives in Dundrum, Dublin. “When I was born, I crawled and I walked. In my 20s, I would have lost the ability to dress myself. In my 30s, I lost the ability to wash myself. And in my 40s I lost the ability to feed myself. It gradually takes away your strength.” O’Grady works for consultancy firm EY in Dublin, having previously lived in London and Switzerland. He has an MA from Trinity College Dublin and an MBA from Harvard Business School. He says there are limited treatment options for adults with SMA and feels many people have “been left out to rot”. The cost of Spinraza, a drug injected into the spine at least every four months to prevent deterioration, is currently reimbursed by the HSE for patients aged under 18 years. [ FAFO parenting has taken over from the gently-gently approachOpens in new window ] O’Grady considers the age restrictions around this treatment to be “incredibly inequitable” as he says those who were under 18 when the drug was approved for reimbursal continue to receive it today. “There are 30 people over 18 in Ireland that have SMA. Ten of those were under 18 when the drug was approved, so they’re getting medicine. There are 20 who were over 18 at the time it was approved and they’ve been left out to rot.” Dr O’Rourke says “there is currently an unmet need” for adults in Ireland with SMA to access treatment, adding: “There is a growing body of evidence that some of the treatments in adults can help to stabilise disease progression.” [ Ireland’s outdoor primary school: ‘A lot of people panic about the weather’Opens in new window ] In August 2023, the HSE approved reimbursement for Evrysdi (risdiplam) in Ireland as a third treatment option for patients aged under 18. Unlike Spinraza, Evrysdi is administered orally as a liquid solution that is taken daily at home, offering greater convenience for patients. “Invariably, the children that have it [SMA] are bright and positive, and with love from their parents and the right supports they can achieve amazing things,” says O’Grady. However, he says there has been a “distinct inertia around the subject” in Ireland, resulting in a “profound” difference for children who receive delayed diagnosis and treatment due to delays in testing. “We’re now into year three, so 12-plus babies have been born who haven’t got the medicine when they should’ve – who have been delayed.” Liz McMahon and David Ryan, who live in Co Meath, have three children – Vivienne (10), Luke (8) and Seán (5). Both Luke and Seán have SMA, but their lives couldn’t be more different, McMahon says. Seán was among the first children in Ireland to undergo gene replacement therapy as part of a Zolgensma trial at St James’s Hospital in Dublin. He began treatment with Spinraza at 10 days old, having been diagnosed with SMA before birth. Seán owes this early diagnosis to his older brother, who was not diagnosed until after being admitted to hospital with severe respiratory distress aged six weeks. Luke stayed there for eight months. Today, he uses a ventilator to sleep and needs a nebuliser and chest physiotherapy each morning. “There’s four kids that were born last year that have been robbed of the opportunity to have a much better quality of life. They could’ve been running around like Seán,” says McMahon. “They could have gotten diagnosed with the heel prick test. They could have gotten treatment within the first two weeks and be crawling, walking as any other one-year-old would be.” McMahon urged the Government to “put some more resources into making it happen sooner rather than later”. “It’s all about time. It’s critical that they get it as soon as possible to stop SMA in its tracks.”