A TOP NHS doctor blasted health advisers for refusing to sanction a 17p test that screens newborns for a horrific disease that kills children.
Professor Simon Jones has revealed how life-saving treatment for the degenerative illness metachromatic leukodystrophy (MLD) was available on the NHS if it was caught soon after birth.
But the National Screening Committee – responsible for advising ministers – earlier this month recommended against adding MLD to the heelprick test given to all newborns.
Professor Jones told Talk Radio presenter Peter Cardwell he was sick of telling British parents their children would die before adulthood because of a curable disease that is now caught by screening at birth in other countries.
He also told Health Secretary Wes Streeting to overrule the NSC, adding: “The politicians need to step up.”
Campaigners warned the decision not to screen for MLD would condemn around ten families a year to watching their children die slow, painful deaths because gene therapy treatment only works properly if caught early.
Read more about baby health
HEALTH ALERT
Five symptoms to watch out for as 36 babies fall ill after formula recall
NO KIDDING
Health visitor who drops by after you’ve had a baby reveals 4 big no-no mistakes
In lab tests, the screening was 100 per cent effective and did not miss a single patient.
And Prof Jones, a world-leading expert in metabolic diseases at the University of Manchester, said: “This treatment only works if you use it before the children start to develop their brain disease, and that’s why we need newborn screening.
“We’re lagging behind almost every other country in Europe, most other developed countries and many countries in the developing world.
“Scientists and clinicians that I go to meetings with all around the world will be screening for 20, 30, 40 different diseases.
“We have sent 31 kids home to die, and thats one of the worst things I’ve experienced.
“It’s one thing telling a family that their child has a terrible disease and there’s no treatment, and there’s nothing we can do, but it’s quite another, telling them that there is a treatment they could have had if only our health system was willing to pick it up, but we haven’t.
“This is a cost-effective way to diagnose this condition and allow us to treat the kids. The cost per baby would be 17p.
“The majority of babies born with MLD die are slowly robbed of their ability to walk, talk and eat, and will usually pass away between five and ten years after diagnosis. It’s one of the cruellest diseases.”
Prof Jones said life-saving gene therapy had been available on the NHS since 2022 – but only six of 37 children born with it since then have been diagnosed in time to receive the treatment.
The NSC now says it will not review its decision until 2029 at the earliest.
But Streeting has the power to overrule the advice and follow countries including Norway and the US in adding it to the national screening programme.
The UK has added only one condition to the newborn screening programme since 2015, compared with a European average of 19.
Mum Georgina Morton, 51, whose daughter Ava is now 19 after gene therapy aged seven, successfully halted the development of her MLD, told Talk Radio “This disease as a monster.”
She told how Ava was saved by a medical trial but warned that unless Wes Streeting acted, British children born with the disease faced the same bleak future as those she met who had gone undiagnosed until too late.
Georgina of Westminster, London, said: “They had lost everything.
“They’d lost the ability to walk, to talk, to swallow, so they were fed by a tube to see, to hear. They were having seizures, they had dementia. They had painful deformities, like scoliosis and hip dislocations.
“They relied on breathing apparatus. Their suffering was unimaginable, yet the treated younger siblings who’d been diagnosed because of their elder brother or sister were symptom-free.
“The problem we’ve got now is political failure, because this treatment was licensed for use by the NHS in 2022 yet here we are with children being diagnosed and still not accessing that treatment.”
She added: “Wes Streeting has a choice. He can find a way to work with his officials and start national screening, or he can sit on his hands, let another four years go by and let another 30 to 40 kids die.
“We have all that we need to start screening and treating these kids – we are just missing leadership.”