'Delays stole so much': Father of girl with SMA blasts seven-month wait for diagnosis
A father whose baby daughter waited seven months for a spinal muscular atrophy (SMA) diagnosis has called for a UK-wide screening programme.
A father whose baby daughter waited seven months for a spinal muscular atrophy (SMA) diagnosis has called for a UK-wide screening programme.
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Charlie Brown, from Blackwood in Caerphilly, said delays “stole so much” from his daughter Dani, now five, adding that “a postcode should never decide a child’s future”.
It comes as a national trial in England begins on Thursday, which will explore if adding SMA to the existing blood spot test programme for newborns makes a difference to care.
Under the rollout, a new laboratory will be added to the programme every two months for the next year, with the aim for all babies in England to be offered screening by spring 2028.
Scotland started its screening programme in March, but there are no plans for a rollout in Wales and Northern Ireland.
Mr Brown’s daughter Dani was diagnosed with SMA type 1 when she was 13-months-old.
He said: “When Dani was born, she was a happy, healthy little girl. 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. Our health visitor told us she was just ‘a lazy baby’, but we knew there was something more going on.
“We didn’t know it back then, but with SMA, time is everything. Every day without treatment means muscle is lost forever.
“It took seven months for Dani to be diagnosed. We’ll never know what Dani might have been capable of if she’d been diagnosed before symptoms started.
“Months without a diagnosis stole so much from her. 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.”
Catherine Simpson, from Belfast, said her son Ezra would crawl and shuffle as a baby, but would never try to pull himself up, which she flagged to health visitors.
He was diagnosed with SMA type 2 and now, aged four, relies on a wheelchair full-time.
Ms Simpson said: “Everything seemed as it should in the first eight months or so of his life.
“Ezra would crawl and shuffle along the furniture on his knees, but he never tried to pull himself up onto his feet. I contacted the health visitor when Ezra was around 10-months-old, but we were told walking and standing weren’t usually a concern until later.
“So, we waited. That waiting was awful, because while everyone else tried to reassure me, my instinct was screaming that my little boy needed help.
“Then came the appointments, blood tests and long waits. We watched Ezra get weaker while we waited for answers. In August 2024, we were told he had SMA type 2.
“I can’t understand why SMA is still not included in the newborn heel-prick test in Northern Ireland.
“No family should have to watch their baby get weaker while they wait for answers. If SMA had been included in the heel-prick test, Ezra’s life could have looked so different. I want every baby to have that chance.”
Andy Fletcher, chief executive of Muscular Dystrophy UK, said babies in Wales and Northern Ireland would be left behind if they too did not introduce a programme.
He said: “We must not forget that every baby matters. It’s simply not acceptable that a postcode lottery exists in the UK. Babies with SMA in Wales and Northern Ireland deserve the same chance of early diagnosis.”