‘Cheeky’ Milo is losing the ability to walk, talk and eat & has years to live

AS Karen Hibbert flicks through old photos of her grandchildren, she lingers on a snap of her beloved grandson Milo Hibbert-Walsh. 

Toddling towards the camera with his big blue eyes and a cheeky grin, he appears every inch a healthy tot.

Nobody looking at the pic would have imagined that, within just a few years, Milo would be confined to a wheelchair and fed through a tube, unable to walk or talk. 

For, soon after that photo was taken, Milo’s walking and speech began to deteriorate – with gran Karen and her daughter Chelsea’s pleas for help from doctors repeatedly dismissed.

In October 2024, Milo was diagnosed with Metachromatic Leukodystrophy (MLD) – a genetic disease that progressively destroys the nervous system and is ultimately fatal.

Devastatingly, Milo, 6, might have been saved had he been tested for MLD at birth. 

A potentially life-saving gene therapy for MLD has been available on the NHS since 2022 – but it is most effective for those diagnosed before symptoms take hold.

And, of the ten conditions UK babies are currently screened for at birth, MLD is not one of them – meaning that by the time Milo was diagnosed it was too late to save him.

Heartbroken Karen, 56, an advocate for her 28-year-old daughter Chelsea, who lives with Asperger’s syndrome, says: “In just one year, Milo went from being a usually mischievous little boy to being unable to walk, eat, or talk.

“He is now losing his mobility, his cognitive abilities, and faces a life expectancy of just a few years. 

“I’m a grandparent and I shouldn’t watch my grandson deteriorate. You’re constantly grieving every little loss. 

“I’ve gone through every little emotion, upset and anger. We have the treatment, and we have the ability to diagnose early.

“Yet MLD is not currently part of newborn screening – effectively leaving the life of any child born with this rare disease to chance.”

Milo’s diagnosis led to his little sister Saskia also being diagnosed with MLD.

She received life-saving treatment in March and will live a normal and healthy life – made possible through her older brother. 

“We are so relieved she had the treatment but you should not have to lose one child to keep another child alive,” Karen, of Wallasey, Merseyside,  says.

“Everyone should have that chance at birth. We need to be testing for MLD when they’re babies. Milo’s little life could have been saved.”

‘Brushed off’

A “much-loved, cheeky” little baby, Milo was two and just starting nursery in 2021 when Karen first noticed anything amiss.

“He spoke clearly before nursery but then his speech became unclear, and I noticed he had a strange walk,” she recalls.

“I got a physio as I knew there was something wrong.”

At around 20 months old Milo had a fall, then would not put his foot on the ground for almost three weeks afterwards.

Karen says that when she and Chelsea took him back to the physio asking for tests they were told to give him Paracetomol and Milo was signed off as fine.

“I begged them not to sign him off,” Karen recalls. “I told them I knew something was wrong.”

By June 2024, Milo was struggling to balance and wetting himself, and Karen and Chelsea were “back and forth” to their GP trying to establish what was happening. 

“In many ways he was a normal boy, big blue eyes and a cheeky smile,” she recalls.

“He used to carry his Spiderman toys to school – he was Spiderman mad. But we knew something was wrong, and we were brushed off.”

Since his diagnosis he’s lost everything apart from his beautiful smile

Karen Hibbert

As Milo’s mobility and speech continued to decline, his gran and mum spoke to staff at his school.

Teachers suggested Milo might have dyspraxia – a neurological condition that affects motor coordination.

He was referred back to the GP for tests but Karen says that these, too, got them nowhere. 

“The first doctor turned around and said ‘look balanced enough to me’,” Karen recalls.

“I wasn’t happy with her response and took videos of him walking as I could see his stance was getting wider and more imbalanced.”

Milo also had double incontinence as well as problems with his walk. Yet Karen says their GP told them to leave, as there were “sick patients in the waiting room waiting to see [them]”’.

She adds: “Those words will haunt me for the rest of my life.”

Heart-breaking decline

After months of agonising brush-offs, things came to a head when Milo had a fall at school, around September 2024, and was taken to A&E at Birmingham Children’s Hospital.

After a lengthy eight-hour wait, he was seen by a paediatrician who agreed to investigate further. 

On October 15, Milo was given an MRI scan. While at the hospital, Milo suffered a number of seizures.

A further blood test confirmed the devastating diagnosis of MLD.

MLD occurs when the body cannot make a crucial enzyme called arylsulfatase-A, causing a build-up of fats in cells that protect nerves, causing the cells to die.

The cruel condition causes sight and hearing loss, movement problems, cognitive impairment and seizures.

The life expectancy of affected children is limited to between five and seven years. 

Around four babies in the UK a year are born with the disease, according to the Genomics Education Programme. 

“Since his diagnosis he’s lost everything apart from his beautiful smile,” Karen explains. 

“By Christmas he was only able to crawl. By his sixth birthday, he was fed through a peg through his stomach.

“He’s about 4’2 – the height of a newborn baby. He can’t sit up anymore, he can’t go to school anymore. He talks to you through his eyes.”

Harder still has been the realisation that Milo may have been eligible for potentially life-saving treatment rolled out on the NHS in 2022 had he been diagnosed before suffering nerve damage.

“If we were listened to earlier on he could have been saved,” Karen weeps.

Lifesaving screening

In a cruel twist, in November 2024 the family faced further heartache – as Saskia, then two, was diagnosed after also undergoing an MRI scan.

Fortunately, she was eligible for the ground-breaking gene therapy, in which a blood stem cell transplant equips cells with the ability to make the enzyme missing in cases of MLD.

“The earlier the diagnosis the better, and we were lucky for Saskia we got her the treatment before the nerve damage,” Karen says. 

In January Saskia was hospitalised at the Royal Manchester Children’s Hospital which, in collaboration with the Manchester Centre for Genomic Medicine, is one of only six centres in Europe equipped to offer the treatment.

Her stem cells were harvested in January and sent to Milan for treatment. She received the treated cells back in March.

Now three years old, Saskia is a happy and healthy little girl who will now be able to live a relatively normal life, Karen says.

Saskia is only the sixth UK child to undergo the therapy since it became available three years ago – despite 36 children having been diagnosed in that time. 

For the others – like Milo – diagnosis came too late. 

Now, Karen and Chelsea – who’s also mum to Penelope, 7, and Savannah, 5 – are calling for all babies to be screened for MLD at birth.

The NHS currently screens for ten disorders at birth through the national newborn blood spot test – formerly called the heel prick test – compared to Norway‘s 39, which includes MLD.

A public consultation was recently held by the UK National Screening Committee (UK NSC) regarding the potential for newborn screening for MLD and dozens of other genetic conditions.

After considering the feedback, the UK NSC decided not to back newborn screening for MLD – on the basis that it wasn’t cost effective and there wasn’t enough evidence available to back it up.

Unless Health Secretary Wes Streeting intervenes and overrules the advice, the organisation says it will not review the evidence again until 2029-30 – condemning more families to face watching their youngsters pass away.

The NSC suggested instead that MLD be considered for a limited trial, which could delay life-saving diagnosis for decades by delaying the gathering of further data, given that the disease affects only one in 40,000 newborns.

Karen said: “This decision is unbelievable, bureaucrats squabbling over the type and amount of data available rather than taking every step possible to protect our kids.

“Make no mistake, if Wes Streeting does not go against this advice, children will needlessly die as a result of this decision”.

For Karen, there should be no question about introducing the test.

“No family should go through what we’ve gone through with this,” she says.

“Screening is really really important. If my grandchildren’s story saves one child then that is something.”

As well as raising awareness around MLD, Karen is focused on dedicating as much time as she can with her beloved grandson.

A family friend has set up a fundraiser to pay for them to enjoy a few special days out before Milo’s condition deteriorates too far to be able to. 

“He’s such a special boy. He’s got a wicked sense of humour, if he falls over he laughs his head off,” Karen adds.

“We’re just trying to make memories while we can.”

You can support the family’s GoFundMe here.