In making her story public, Nelson said she hoped to raise awareness because \u201ctime is of the essence\u201d with SMA.<\/p>\n
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.<\/p>\n
The Noonans, from Edgeworthstown in Co Longford, are one of several families calling for the inclusion of SMA in the newborn \u201cheel prick test\u201d, more than two years after its inclusion was announced by then minister for health Stephen Donnelly<\/a>. <\/p>\n 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<\/a>, but it has not yet happened.<\/p>\n In response to queries, the HSE<\/a> said the move was \u201cin the final stages\u201d, with the necessary testing equipment \u201cpurchased, delivered and successfully installed at the newborn screening laboratory, and significant progress continues with regards to the laboratory verification process\u201d. <\/p>\n The recruitment process to hire the additional staff has also been completed, it said, but did not specify a timeline for delivery.<\/p>\n Dr Declan O\u2019Rourke, consultant paediatric neurologist at Temple Street Hospital, says SMA screening is \u201cvery close\u201d to being rolled out, estimating its addition \u201cby the end of March\u201d. 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.<\/p>\n Noonan says that at \u201cjust shy of 16-weeks-old\u201d Donnacha was treated with Zolgensma, a gene therapy which had been approved for reimbursement<\/a> in Ireland two weeks before his diagnosis. <\/p>\n Due to the high cost, the one-time intravenous infusion is only administered to children under two with severe SMA. <\/p>\n Noonan says the \u201cendless amounts of money that are going to accumulate as he grows older\u201d from hospital visits, equipment, and speech and occupational therapies would have been \u201cavoidable\u201d if Donnacha had received an earlier diagnosis. <\/p>\n \u201cHe 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\u2019s just a stark difference,\u201d she says. <\/p>\n Pre-screening for SMA in Donnacha\u2019s sister, S\u00edofra, came back negative.<\/p>\n The heel prick test will facilitate crucial early identification of SMA, says Dr O\u2019Rourke. <\/p>\n \u201cIf we can treat a child pre-symptomatically, then independent walking with little to no evidence of muscle weakness is a realistic outcome measure \u2013 and that\u2019s a pretty phenomenal result, being able to offset neurodegeneration.\u201d<\/p>\n SMA Ireland director Jonathan O\u2019Grady was diagnosed with type 2 when he was eight years old. He is now 52.<\/p>\n \u201cIn 1973 there was no genetic testing, and I wasn\u2019t diagnosed formally until 1982,\u201d says O\u2019Grady, who lives in Dundrum, Dublin.<\/p>\n \u201cWhen 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.\u201d<\/p>\n O\u2019Grady 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.<\/p>\n He says there are limited treatment options for adults with SMA and feels many people have \u201cbeen left out to rot\u201d. <\/p>\n 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. <\/p>\n![\"Bróna](\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2026\/01\/QH4XYHNP7RDN7GT7IDG3GY4ANQ.JPG\")
Br\u00f3na and Brian Noonan\u2019s four-year-old son Donnacha was hospitalised six times last year. Photograph: Nick Bradshaw <\/p>\n![\"SMA](\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2026\/01\/2MHMURLJR5D2DLCJWSFX2EM3XU.JPG\")
SMA Ireland director Jonathan O’Grady says there are limited treatment options for adults with SMA and feels many people have ‘been left out to rot’. Photograph: Bryan O\u2019Brien<\/p>\n
![\"Brothers](\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2026\/01\/YSCX65WHG5H55CZPWIKGAGWRC4.jpg\")
Brothers Luke (8) and Se\u00e1n Ryan (5) both have spinal muscular atrophy. Se\u00e1n was among the first children in Ireland to undergo gene replacement therapy as part of a Zolgensma trial <\/p>\n