A NEW rapid test for Spinal Muscular Atrophy is now available
A new genomic test, developed by scientists at Guy’s & St. Thomas’ Hospital, is now available which can diagnose Spinal Muscular Atrophy within three days of the sample arriving at the laboratory.
The test is not currently available on the NHS, but can be ordered directly from our laboratory partners at Synnovis.
Spinal Muscular Atrophy is a severe and progressive neuro-muscular disorder which is caused by genetic mutations or deletions to the SMN1 gene. It’s usually seen in children at an early age when they appear to be ‘floppy’ with muscle weakness. Children with SMA often have limited survival without support from a ventilator, but treatment is now very effective if administered quickly.
We met Noah, and his Mum Juliet, to talk to them about their Rapid SMA Test.
Noah was Juliet’s fourth child. When he was just 5 weeks old, he caught a cold which he struggled to recover from. He ended up in hospital miles away from home over Christmas, on a ventilator and needed intubation. When they returned home, Juliet noticed that Noah couldn’t hold his head up. After seeing several healthcare professionals, things came to a head when Juliet cried at an appointment and explained how different Noah was to other babies of the same age. His breathing pattern was different and his legs had now stopped moving altogether. This led to a referral to a specialist who suggested Noah may have Spinal Muscular Atrophy (SMA). They referred Noah for genetic testing which could take up to 2 weeks. At 4 months of age, Noah was diagnosed with SMA type 1 (the most severe form) by our laboratory at Guy’s Hospital in London.
Juliet talked to us about how agonising and difficult it was to wait for the genetic test result. Juliet could see that Noah was deteriorating every day.
When Noah was diagnosed, doctors wanted him to start treatment straight away. However, he had caught a cold which meant he was in intensive care on a ventilator. When children with SMA catch colds they often become very poorly because they cannot cough strongly enough to remove mucus from their lungs and so develop worse breathing problems, making it hard to remove the need for ventilation. Fortunately, after a delay Noah recovered enough to be treated, and he received Spinraza® when he was five months old.
Treatment for SMA can stop further deterioration, but it cannot reverse the disease. That’s why an early diagnosis can make a huge difference.
Noah is now 8 years old, loves swimming and goes to mainstream school. He drives a power chair and is peg fed, as he can no longer swallow.
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