Newborn test for muscle disease could 'save lives'

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save lives".

Amy, 37, from Henleaze in Bristol, said early detection of spinal muscular atrophy (SMA), which causes muscle weakness and worsens over time, could mean children "no longer have to suffer".

She wants the condition to be included in the heel prick test for newborns after her son Oakley was diagnosed. Singer Jesy Nelson recently revealed her daughters have SMA.

The Department for Health and Social Care (DHSC) said hundreds of thousands of babies will be screened for SMA as part of an NHS trial.

The heel prick test checks for nine rare health conditions, including cystic fibrosis and sickle cell disease, by analysing a few drops of blood from a baby's heel around five days after birth.

The charity SMA UK said early detection is crucial as it allows for treatment before irreversible damage occurs.

Amy said: "We know having screening at birth would mean children no longer have to suffer and will go on to meet major milestones like their peers."

When Oakley was 14-weeks-old he received a single dose of gene therapy Zolgensma.

Oakley uses a wheelchair and his family says, although he will always need full-time care, his mobility has progressed.

Oakley's dad Nick, 43, said: "He is thriving thanks to the support he receives, and we are confident he could go on to attain greater independence and give a lot back to society."

A spokesperson from the DHSC said: "The UK National Screening Committee has recommended a large-scale study into newborn screening.

"There are also now more treatments available for SMA than ever before, making early detection more important than it has ever been," they added.

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