The father of a three-year-old girl with spinal muscular atrophy (SMA) has accused the government of “playing God” by refusing to introduce newborn screening for the condition. Warren Davies, from Aberdare, south Wales, said it was “shocking” that the NHS does not test all babies for SMA, despite the availability of a simple £5 heel prick test.
His daughter Ophelia-May Davies was not diagnosed until after her second birthday, by which time she had suffered irreversible nerve damage. She has Type 2 SMA and is unlikely ever to walk. Her life expectancy is around 20 years. The family had to push for two years for a diagnosis, after being repeatedly told there was no developmental issue.
The Mirror is campaigning for the UK to join most other developed nations in screening for SMA at birth. A Lancet study published yesterday showed that adding an SMA check to the newborn blood spot test would save lives and money. However, the UK Government and the Welsh government are following a recommendation from the UK National Screening Committee to plan an NHS pilot first, unlikely to start before 2027. National rollout in England and Wales may not happen until 2031.
In contrast, NHS Scotland will roll out SMA screening for all newborns from spring. Since 2019, three curative treatments have been made available on the NHS, including the one-off gene therapy Zolgesma, but they cannot reverse existing disability. Ophelia was diagnosed too late for Zolgesma and now takes daily risdiplam.
Warren and his partner Rhiannon Rafferty have launched a GoFundMe page to fund private physiotherapy, as NHS support is limited. Ophelia requires breathing support overnight and a monitor to alert her parents if her oxygen levels drop. Warren said: “We’re supposed to be a first world country and it’s absolutely shocking that the NHS doesn’t screen for this.”
