A heartbroken mum has revealed she is cherishing every precious milestone her toddler reaches, knowing he will one day lose the ability to walk, talk and even recognise his family.
Bethany Gordon said she always felt there was “something different” about her youngest son from the moment he was born.
Now aged just 22 months, Kole Pearson has been diagnosed with Sanfilippo Syndrome Type A – a rare condition often described as childhood dementia.
The devastating illness causes progressive brain damage, with children gradually losing skills they once had before typically dying in their early teens.
“Without treatment, the outlook of Kole’s life is a death sentence,” Bethany, from Ellesmere Port, Cheshire, told Need To Know.
“He will lose every skill he has gained; the ability to talk, walk and eat – things that we all take for granted.
“He will lose his life by his mid teens.”
Bethany said their lives have revolved around hospitals and specialists since Kole was a baby.
She said: “We are reminded now, even more than ever before, to cherish every second of time we have with Kole, as when the regression begins, life will look very very different.”
The mum-of-three admitted the hardest moments come when she briefly forgets the devastating reality facing her family.
She said: “I find the hardest moments is when for a split second I forget everything and I see him walking and playing with his siblings.
“Then I’m brought back down to earth by the fact it won’t last forever.”
Kole was born by caesarean section and missed key developmental milestones from an early age.
At 15 months old, he was still unable to sit up unsupported.
Doctors initially reassured the family.
But Bethany said her instincts told her something was wrong.
The turning point came after Christmas 2025 when she saw a social media video of another child with Sanfilippo Syndrome.
She said: “My heart sank and I instantly knew.
“He could be Kole’s brother because they are so similar in both physical and medical aspects.
“I called my mum frantic saying ‘I know this is what my baby has’.”
Bethany, also mum to Koby, 10, and Ayla, seven, said she had sensed from birth that Kole was different.
She said: “Maybe a mother’s instinct but I couldn’t put finger on what wasn’t quite right.
“I just knew there was something uniquely different about him.”
Her fears were finally confirmed last month when Kole received the diagnosis.
Sanfilippo Syndrome – also known as MPS IIIA – is an inherited disorder that stops the body breaking down certain sugars, leading to a toxic build-up in the brain.
Kole’s diagnosis came unusually early, with most children not diagnosed until symptoms worsen between the ages of two and five.
Doctors even praised Bethany’s persistence in securing answers.
She said: “The doctor that diagnosed Kole said ‘we would have got there eventually, but you got him this early diagnosis and you should be very proud of yourself for that’.”
Despite fearing the diagnosis for months, Bethany said nothing could prepare her for hearing the words out loud.
She said: “From the moment he was diagnosed, I’ve walked around with a permanent black cloud above my head.
“A terminal diagnosis is something no parent should ever have to hear.”
But despite the cruel prognosis, Kole is still progressing.
Over the past six months he has learned to sit, crawl, walk and babble.
Bethany said: “His little personality is really starting to shine through.
“Everyone tells me he’s the happiest baby they’ve ever met, and that’s still true.
“Nothing about that changes.
“He loves cuddles, loves Mickey Mouse and is so loved by us all.
“I find real comfort in knowing Kole will never understand his diagnosis.
“Kole’s life is the only little life he knows and if there’s anything he leaves this earth knowing, it’ll be love.”
Kole also suffers severe hearing loss in one ear and moderate hearing loss in the other.
Bethany and her partner, scaffolder Daniel Pearson, are trying to keep life as normal as possible for their older children.
She said: “There will never be a right time to tell them their little brother has a life limiting terminal illness.
“We have quickly learnt to make joy in each moment.”
Now the family’s hopes rest on a potential gene therapy called UX111, which could be considered for approval later this year.
The one-off treatment aims to correct the faulty gene responsible for the disease.
But it could cost around £2 million.
Without treatment, Kole is expected to lose the ability to walk, talk and eat, with a life expectancy of around 12 to 15 years.
Bethany added: “With approved treatment, it is literally life changing.
“Kole is going to change the Sanfilippo world and I won’t stop until all of the Sanfilippo babies have treatment readily available like they all deserve.
“No child deserves this cruel diagnosis.”
To donate, go to: GoFundMe
