At just seven weeks old, Charlie was diagnosed with SMA thanks to a rapid assessment. Early treatment has halted the disease, and today he’s happy and thriving.
Chris and his wife Cat welcomed their second child, Charlie, in August 2024. Less than seven weeks later they noticed something was wrong; Charlie wasn’t developing like his sister, Aggie, had.
‘By 7 weeks, my wife knew something was different. He had become floppy and he was breathing very rapidly with his belly.’
They took Charlie to A&E at Kingston hospital and were very quickly taken seriously. Doctors asked questions about Charlie’s development, his mobility, and his breathing.
Chris and Cat were told that they strongly suspected Charlie had a neuromuscular disorder which they thought might be spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a severe and progressive neuromuscular disorder which is caused by genetic mutations or deletions to the SMN1 gene.
‘Our experience was unusual for the SMA community. A lot of other families we know really had to fight to have doctors listen to them.’
The doctors at Kingston hospital diagnosed him within a day of arriving at A&E and started him on medication while they waited for the genetic test results.
Early diagnosis of SMA is key. For many patients, SMA progresses quickly and although treatment now exists, it cannot reverse any damage that has already been done.
‘Their rapid assessment is what made all the difference. I feel lucky we have had such excellent support for Charlie.’
Charlie was moved to the Evelina Children’s Hospital in London a week later and genetic testing confirmed his diagnosis. Charlie had Type 1 SMA which is the most severe.
They were put in touch with the charity SMA UK, and it was through this network they were able to find a community of other families in the same situation.
‘Connecting with the charity and other families has been incredibly helpful. We got so much advice and practical information.”
Doctors gave them three treatment options. Chris and Cat very quickly decided that gene therapy – a one-off treatment that replaces the faulty gene with a working copy of the SMN1 gene – was the right option for Charlie.
He received his treatment in December 2024 at the Evelina. Since then, he’s had multiple appointments and continues with physiotherapy, but the treatment has halted the progression of the disease.
‘If he had been born a decade ago, there were no treatment options, and we would have been talking about end-of-life care.’
Charlie can now sit independently and is enjoying a mainstream nursery. He’s recently got a motorised wheelchair so he can keep up with his friends.