Around one baby a week is paralysed by a devastating muscle-wasting disease due to delays in rolling out a simple £5 blood check at birth.
Families of infants paralysed by spinal muscular atrophy demand the Government adds the condition to ones tested for in the heel prick test, done on babies at five days.
Experts have called the five-year delay by the Government’s National Screening Committee a national medical emergency. Dozens of countries, including the US, Australia, Japan, Russia, most of the EU and even war-torn Ukraine have introduced the simple test.
Gene therapies can now prevent newborns with SMA suffering paralysis but only if given at birth before irreversible damage has occurred. Since 2019, about 250 babies have been disabled by the genetic condition known as floppy baby syndrome. But the NSC, which advises Government, dithers over a final decision.
One such sufferer is Ollie Williams, now three, diagnosed at three months who needs a feeding tube into his stomach and an oxygen machine at night. His mum Amy said: “Every child should be tested for this and it’s absolutely devastating this hasn’t happened. If a country like Ukraine in the middle of a war can add it to their heel prick test as well as countries that are not as wealthy as the UK then why can’t we? ”
SMA causes muscle weakness, loss of movement, difficulty breathing in the first weeks and months after birth. Without treatment life expectancy for some kids can be as little as two years.
If treatment is only begun once symptoms have started, most of these infants will never walk independently. Many will need mechanical ventilation, nutritional support, and 24/7 care.
Recent “revolutionary” gene therapies, available on the NHS, which halts the death of nerves responsible for muscle function.
But lack of a newborn check means it has only been used on a handful before symptoms start. Some were tested in the womb as an older sibling had already been diagnosed with SMA.
Almost all infants currently being diagnosed are because parents tell medics their baby is not crawling or lifting their head.
But by this point the vital window for treatment to prevent lifelong disability has usually been missed. A year ago the NSC announced a further review, despite overwhelming global evidence in favour of the urgent implementation of national screening. Experts believe a full rollout will not happen for years.
Babies born in the Thames Valley area are being tested at birth in a pilot scheme run by Laurent Servais, professor of paediatric neuromuscular diseases at Oxford University and one of Britain’s top experts in SMA.
He estimated 49 UK babies a year are born with SMA but just one will be diagnosed at birth, “if they were lucky enough to be born in the Thames Valley area.”
Prof Servais said: “It’s an absolute nonsense not to screen all children for this. We have a simple test that has been demonstrated to be safe and reliable around the world. We could, for around £5 per baby, avoid these children dying or being left disabled for the rest of their lives.
“It saves the NHS money, and we could avoid 48 tragedies each year. There isn’t a single good reason not to screen. It’s an ethical, economic and medical emergency.”
In 2018, the NSC decided there was not the evidence to support adding SMA to the newborn screening test.
The Mirror understands there will be an expanded pilot in part of the country in the second half of 2025.
Giles Lomax, of charity SMA UK, said: “At this rate we’re unlikely to see full UK wide newborn screening for many years.
“Where families have two affected children, one treated after symptoms have progressed and one at birth following genetic testing, the differences in the health and mobility of the children are striking.
“Any delays to initiating a UK-wide pilot… has life-changing consequences for babies born with SMA and their families.” The Department for Health declined to comment.
‘Ollie could be like his friends who are just on their own enjoying life’
For Amy and Ben Williams their three-year-old son Ollie’s spinal muscular atrophy is a double blow.
The lad cannot breathe, eat or sit without support and his parents know had he been diagnosed and treated soon after birth things could have been so different.
Amy, 35, said: “Ollie could be like his friends who are just on their own, enjoying life.” She said lockdown-baby Ollie showed early signs of SMA, weight loss and floppiness, but midwives lacked awareness. He failed the NHS Moro reflex test but a GP said his eyes seemed alert and “we’ll keep him under review.”
The Williams had a Zoom call with other parents of newborns in their NCT class and the woman leading it joked she thought Ollie was a doll because he was so still.
Amy said: “That day we went to A&E and said we weren’t leaving until he was tested.” Ollie was three months when he was diagnosed with Type 1 SMA, the most common and severe form. In those crucial early weeks motor neurons had died before he was started on Spinraza, and then moved on to Zolgensma, which has given him a chance at life.
He uses an oxygen machine at night, is fed via a tube into his stomach and he needs daily physio sessions to maintain his muscles.
He uses a “power chair” to get about costing £15,000, which the family are hoping to get on the NHS.
Catching a common cold could be fatal and infections have put him in intensive care four times in his young life. To prevent this he is put on a machine to simulate a cough twice a day which clears his airways as his own throat muscles are not strong enough.
Freelance marketer Amy, of Ashford, Kent, said he faces an uncertain future. “If he takes a few steps on his own one day that would be incredible. We just want him to have the best life he can have.”
She said: “An intensive care stay in hospital for six weeks costs an incredible amount of money but the birth test for SMA costs just a few quid.” She said SMA kids treated after two weeks are walking yet have the same condition as Ollie.
Tosin Ogunmola’s four-year-old Mikayla Odunwo, diagnosed with SMA at nine weeks, uses a wheelchair, is fed through a tube and needs help swallowing.
Tosin, 41, of Romford, Essex, said: “I strongly believe if Mikayla was screened as a newborn and treatment commenced earlier chances are high that she wouldn’t have had atrophy in her muscles.”
Sarah Carter is a health and wellness expert residing in the UK. With a background in healthcare, she offers evidence-based advice on fitness, nutrition, and mental well-being, promoting healthier living for readers.
