With a diagnosis shared by an estimated five other children in the UK, little Myles Hughes’ future is terrifyingly uncertain at just six years old.
The little boy was born deaf and with a dislocated left hip, but it wasn’t until he was two that mum Georgia, 28, grew increasingly concerned.
Myles’ teeth were knocked out after a fall and, when they didn’t grow back as scheduled, Georgia knew something was wrong.
It was one of the first signs of 4H leukodystrophy – a rare genetic disorder that affects the nervous system and causes motor problems.
It has also affected Myles’ growth, with the six-year-old still wearing clothes to fit a 12-month-old baby.
There is no known cure, and many children with the condition die before the age of 10, leaving Georgia terrified for what the future holds, and desperate for answers.
“It’s soul-destroying knowing how rare and unique his case his,” Georgia, from Flintshire, told Need To Know.
“I have to take each 24 hours at a time, minute by minute/
“It’s terrifying.
“We’re facing a very scary and uncertain future.”
Myles was born disabled, and by the time he turned six months old, Georgia knew there was something amiss – but never knew how serious it might be.
The tot never learned to walk and was always “extremely wobbly” when reaching for toys.
Georgia, who is Myles’ sole and full-time carer, said: “I always knew something wasn’t right.
“He couldn’t stand on his own two feet, let alone walk.
“He was diagnosed with a severe global developmental delay at the age of one.”
But it was when she noticed an issue with his teeth the following year that she became convinced something more sinister was at play.
The single mum said: “He knocked his two front teeth out when he fell forward while sitting, and I noticed they weren’t growing back.
“I was concerned he only had seven teeth as, at that age, he should have had a full set.”
A dentist confirmed he had something called hypodontia (missing tooth condition) – one of the four Hs in his particular form of leukodystrophy, called 4H.
It is unclear why or how it occurs, and only four other children in the UK are known to be affected.
While his specialists were looking into the cause of his hearing loss, an MRI scan was performed – which found something amiss in his brain: hypomyelination (a lack of covering brain nerves, meaning messages aren’t sent to the body correctly).
Myles was found to also have the other two Hs – hypogonadotropic and hypogonadism, both of which occur when the body isn’t producing enough hormones to support healthy growth and development.
Gene testing confirmed the diagnosis, when doctors discovered that Georgia and Myles’ biological dad – who isn’t in the picture – were both carriers of the gene, with the more severe mutation passed down from his father making Myles’ condition unique from the other children diagnosed in the UK, who can walk, talk and aren’t deaf.
He was officially diagnosed with the condition in December 2021, when he was three years old.
Georgia said: “The paediatrician sat in front of me in the clinic following the diagnosis and said he will lose all head control, become paralysed bed bound and life will be cut short.
“Day-to-day visuals of watching him struggle break my heart.
“I feel very alone on this journey.
“I was in denial, but reality is setting in.
“Weirdly, it’s like my brain is protecting me from what I know is going to happen – that his life is extremely limited.
“It’s unlikely Myles will live to be a teenager, and there is zero treatment, so our focus is on his quality of life, palliative care and comfort.”
While he was a “normal, very chubby” baby at birth, since the age of three he has become “long and skinny”, and will be fitted with a feeding tube next month to help him gain weight.
His balance has also sadly deteriorated, and Myles has to wear hearing aids, glasses, and a helmet in case of any falls.
But hope isn’t entirely lost, with a specialist, Dr Wolf, based in Amsterdam overseeing his case.
Georgia flew Myles out to meet with her in 2022, and is currently fundraising on GoFundMe for a second visit, as a “final chance” to see if she will be able to help him before the disease progresses further.
While there is no cure, Dr Wolf is a rare expert in the disease, and can help advise on ways to keep him comfortable.
The mum said: “I would love the opportunity to take Myles to see her just once more so I can get some advice around things I am deeply concerned about.
“His condition is completely unique to everyone else’s with 4H leukodystrophy, which is why it’s so important we can get him back to Amsterdam to see Dr Wolf.”
Georgia said the doctor has been able to give “life-changing” advice, including getting him vaccinated against chicken pox, due to the potentially fatal outcome if Myles were to catch it – and seeing him in-person again will help her address his current needs.
Myles is most likely to have an infection-related death – which is most common with leukodystrophy – and part of his regimen is taking daily antibiotics due to his compromised immune system.
Georgia added: “It was upsetting and hard to hear that the doctors don’t think he will live to be a teenager, but I have full trust in Dr Wolf that she can help me give Myles the best quality of life.”
Now, the mum is focusing on keeping Myles as comfortable as possible, and making memories with her son.
She received a grant from the Together for Short Lives charity to take Myles to the lion lodge at West Midlands Safari Park, where they will be able to get up close and personal with the animals.
Georgia added: “I can’t take Myles to zoos because he has short sightedness amongst other eye abnormalities and him not walking.
“The animals are always too far away so he never gets the same experience as other children.
“This opportunity – which is taking place for his seventh birthday – will be a memory I will cherish forever.”
