Children with debilitating genetic condition denied early life-changing test
Children suffering from Spinal Muscular Atrophy (SMA) – a rare but debilitating genetic condition – are being denied a simple test at birth which could give them the chance of a normal life.
Every month in the UK, four babies are born with SMA.
If left undiagnosed and untreated, many children with the most common form of SMA, type 1, do not live beyond their second birthday.
Yet a test for the condition is not included in the newborn national screening programme – unlike in many other countries, including Ukraine, which introduced the test during the war against Russia.
And having that test early on can be vital, as there are now treatments, including a gene therapy, which can halt the disease progression.
Professor Giovanni Baranello, Professor of Paediatric Neuromuscular Disorders at Great Ormond Street Hospital, told us that with the treatment, babies will go on to have a normal life:
'They will not develop symptoms, he said. 'So we can basically revert, you know, the progression and natural course of the condition.'
SMA causes muscle weakness, breathing and swallowing.
Sebastian Stezaly was diagnosed at four months, simply because his mother suspected something was wrong and insisted he was tested, which they had done privately. He began treatment at five months but he had already lost muscle use in his legs and his speech was affected.
All for the lack of the newborn test, which could be included in the heel prick test given to all babies at five days old.
In 2018 the UK National Screening Committee decided not to recommend to the government that it should add SMA to the national screening programme.
Two years ago, they said they would launch an in-service evaluation to gather further evidence.
A call for people to take part in the research is underway and the Department of Health says it's working closely with families and campaigners – but it wouldn't say why there has been a delay nor why this evaluation which was once UK-wide, has now been scaled back to just 60 percent of England alone.
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