A father from Blackwood is calling on the Welsh Government to introduce newborn screening for spinal muscular atrophy (SMA), after his daughter was diagnosed later than necessary. The UK Government has announced that screening for the rare condition will be available in England from later this year, but no decision has been made for Wales. A pilot scheme is already running in Scotland.
What is SMA?
Spinal muscular atrophy is a rare genetic condition that causes muscles to weaken and waste over time. It affects around one in every 10,000 babies worldwide. The condition can impact crawling, walking, arm and head movements, as well as breathing and swallowing. Former Little Mix singer Jesy Nelson has campaigned for routine newborn screening after her twin daughters were diagnosed with SMA type 1.
Early treatment vital
Andy Fletcher, chief executive of Muscular Dystrophy UK, said: “Newborn screening is the fastest and most effective route to a diagnosis of SMA, where early treatment before symptoms appear is vital to minimising irreversible damage and helping children grow up without complex needs.” He added: “Without early treatment, some babies with SMA won't live beyond two years old. Babies who do survive may never walk, and many will rely on feeding tubes and ventilation support. But it doesn't have to be this way.”
Dani's story
Charlie Brown's daughter Dani was diagnosed with SMA type 1 at 13 months old, after seven months of delays during which she lost strength that can never be regained. “When Dani was born, she was a happy, healthy little girl,” said Charlie. “We had no reason to think anything was wrong. Then, at five and a half months old, my wife noticed that Dani's legs had stopped moving. She'd pick them up and they'd just fall back down. Our health visitor told us she was just ‘a lazy baby’, but we knew there was something more going on.”
After a lengthy diagnostic process, the family finally received answers. Charlie said: “It took seven months for Dani to be diagnosed. She was 13 months old by then, which is one of the latest type 1 diagnoses I've come across.” Now nearly five, Dani cannot walk or weight bear, and she requires a ventilator overnight.
Call for screening in Wales
Charlie believes newborn screening could have made a significant difference. “People ask me whether newborn screening would have meant Dani would be walking and running today. I'm realistic; I know that’s not a given but I do know she would almost certainly have had more strength than she has now,” he said. “SMA newborn screening could have changed that, and every family in Wales deserves the same chance as those in England and Scotland. A postcode should never decide a child’s future.”
Muscular Dystrophy UK remains concerned that there are still no plans to screen for SMA in Wales or Northern Ireland. Mr Fletcher said: “No baby should miss out on vital early diagnosis due to where they live. Other countries have shown what’s possible and the life-changing impact newborn screening for SMA can have, and Welsh families like Dani’s deserve the same chance as families elsewhere in the UK.”
Welsh Government response
A Welsh Government spokesperson said: “Spinal Muscular Atrophy is a devastating diagnosis for sufferers and their families. We encourage any parent or carer with concerns about their child’s development to speak to their GP or health visitor so that appropriate advice and support can be provided promptly.” The spokesperson noted that the UK National Screening Committee does not currently recommend routine newborn screening for SMA, and that the in-service evaluation in England will help inform future recommendations. “If the advice changes, we will of course consider any future recommendations from the committee,” they added.
