The mother of baby boy, who had 22 medical appointments with nine different doctors before being diagnosed with a rare genetic condition, wants all newborns to be tested for it.
Chester was eight months old when his parents were finally told the condition that meant he couldn’t swallow or move his legs and left him constantly distressed was spinal muscular atrophy, or SMA.
But it’s a delay that will have a lifelong impact.
“He still can’t hold his head up,” said his mum, Kasey Mumford.
“If he’d been diagnosed by the heel prick test at like three or five days old, he could have started medication straight away, because there’s a treatment for it, there are three different types of treatment, but there’s no cure. He will never not have this.”
Chester is nearly one now, but needs a ventilator at night to breathe.
But SMA isn’t one of the 10 rare illnesses that newborn babies are currently tested for in the UK, unlike in the US and much of Europe.
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Dr Vasantha Gowda, a consultant paediatric neurologist at London’s St Thomas’ Hospital, says clinicians from other countries are “all shocked that we don’t have newborn screening for SMA”.
“If we treat these children early, there is a possibility that… they would walk, run, climb, play. They would not need any support for breathing. They would need no support for feeding,” she said.
“We know there’s a potential to deliver this if the condition is picked up at the earliest possible stage.”
SMA causes irreversible loss of motor neurons, which affects muscle function.
Nine out of 10 will either die before they’re two or rely on a ventilator for life.
And when 2,000 parents were surveyed recently, 90% said they’d want to know as soon as possible if their child had SMA.
Four in every five wanted screening implemented immediately, and the same proportion considered the £5 cost per test good value.
The lack of testing for the condition is, according to the chief executive of the charity SMA UK, “unethical”.
“The new 10-year NHS plan has highlighted that prevention is a key pillar,” said Giles Lomax. “Newborn screening for SMA is essentially a very quick and easy win to align to that pillar.
“We’ve got the treatments there, we’ve got pathways, we have the expertise, we could make prevention for SMA a thing right now.”
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New therapies have been developed since SMA was last considered for inclusion, and in 2023, the UK National Screening Committee agreed to review the decision.
A large-scale study is now under way and the different governments across the UK have said they’ll be guidedby the advisory body’s recommendations.
But Chester’s mum is clear that it must be included as “every single second counts” when it comes to receiving treatment.
Instead, for Kasey and her partner, Dylan, there will always be that uncertainty about what might have been had their boy been diagnosed sooner.
