Parents say babies failed by delayed diagnosis like Jesy Nelson's twins
Parents of children with a muscle-wasting condition called Spinal Muscular Atrophy (SMA) say their babies are being diagnosed far too late. SMA is a rare genetic disorder that causes muscles to weaken, which can lead to permanent disability or even death if not treated early.
Families have shared stories of how their concerns were dismissed by doctors. One mother was told she was being "overprotective" even though her son had stopped moving, while another father believes his daughter would be walking and running today if she had been tested at birth. Instead, because of the delay, she now relies on a wheelchair. The issue has gained more attention recently after singer Jesy Nelson revealed that her newborn twins have the condition and may never walk.
Currently, the NHS tests newborns for nine rare diseases using a heel-prick blood test, but SMA is not on that list. Experts say that timing is vital because once the muscles begin to waste away, the damage cannot be undone. However, if a baby is treated before symptoms start, they have a much better chance of hitting normal milestones like sitting and standing.
The government's screening committee previously decided against testing every baby because they felt there wasn't enough evidence regarding costs and benefits. While a pilot study was approved last year to gather more data, it has not yet started because researchers are still waiting for health partners to agree on how to run the trial. For now, the government says it will wait for the results of this study before deciding whether to change the rules for the whole of the UK.
