When two-year-old Kole Pearson failed a battery of routine newborn hearing tests, nothing could have prepared his parents for the fatal – and incurable – diagnosis their son would receive months later.
Medics initially suspected Kole, from Ellesmere Port in Cheshire, was autistic or had global development delay (GDD) after his mother, Beth Gordon, noticed his missed milestones and other symptoms such as stimming and a sagging neck.
However, after a third failed hearing test, 33-year-old Ms. Gordon recalled going to a TikTok video of a child with Sanfilippo syndrome – a rare, neurodegenerative disorder – and had a ‘maternal instinct’. Her son fit the bill.
After raising the possibility with Kole’s doctors, Ms. Gordon was told that autism and Sanfilippo syndrome can present similarly in the early stages of a child’s development, adding to her suspicions.
It was then, Ms Gordon said, that she and her partner Daniel Pearson, 40, pushed for genetic testing to rule out – or confirm – their worst fears.
After a series of tests, Kole was given the life sentencechanging – and devastating – diagnosed with Sanfilippo syndrome, also known as childhood dementia, in April this year.
To make matters worse, doctors confirmed that Kole’s variant of the condition is Type A – and there are no treatment options available on the NHS.
Ms. Gordon and Mr. Pearson were simply told by medics to go home and “please love and make lots of memories” with Kole in the limited time he has left.
Two-year-old Kole Pearson was diagnosed with a rare and deadly variant of childhood dementia earlier this year
Kole’s mother, Beth Gordon, realized something was wrong after he failed a series of newborn hearing tests – something she had not experienced with her other children (Photo: Kole with siblings Koby and Alya)
After watching a TikTok video of a child with Sanfilippo syndrome, Ms. Gordon realized Kole was exhibiting similar symptoms
But despite such slim odds, Ms Gordon and Mr Pearson refused to accept that this was the only option for their son – determined to enroll Kole in a trial therapy available only in America and hailed as ‘life-saving’ for children with Sanfilippo syndrome.
The only catch is the high price tag attached to the treatment – the cost is a whopping £2 million.
The family – including siblings Koby, 10, and Ayla, eight – have now set up a GoFundMe campaign in the hope of raising the vital cash, but have currently only raised £15,000 – a fraction of the money they so desperately need.
Mrs Gordon spoke to the Daily Mail about how standard hearing tests became a nightmare for her young family – but how she will stop endlessly to be successful in fundraising for Kole’s future.
She said, “Kole is the happiest little boy ever. People are constantly commenting on how happy and sweet he is. But I always had a motherly instinct, something was wrong with his health.
‘One of the first warning signs was that he did not respond well during the reflex examination at six weeks old. He also failed a newborn hearing test.
‘He then failed two more hearing tests. We later found out that he has severe hearing loss in his left ear and mild to moderate hearing loss in his right ear.
‘It was always suspected that this caused him to have a global development delay. Then autism was put on the table.
Kole’s family are trying to raise £2 million for a treatment that could become available in America – and save his life
Mrs Gordon describes Kole as ‘the happiest little boy ever’ (pictured here with siblings Koby and Ayla)
‘I really believed that Kole could possibly be autistic – he was a flappy baby, very excitable and very sensory seeking.
‘I now know that autism and Sanfilippo occur similarly in young children – which is often why Sanfilippo can be misdiagnosed or not picked up until the child is five or six years old.’
Mrs Gordon, who now cares for her son full-time, described the penny finally dropping on what was wrong with Kole one evening while scrolling social media – after another failed hearing test.
She said: ‘After the hearing test, I happened to be scrolling through TikTok and came across a little girl in America who was identical to Kole – she had Sanfilippo syndrome.
‘I then Googled the disorder and started crying – instinctively I knew Kole matched. I then called my mother to tell her that I knew Kole had this condition.”
At that point, Ms Gordon and Mr Pearson, a self-employed scaffolder, went to Kole’s pediatrician at the Countess of Chester Hospital in Cheshire, where Ms Gordon recalled requesting urgent genetic testing to confirm the possible diagnosis.
She said: ‘The doctors at Kole said Sanfilippo is so rare it’s probably not – I was constantly dismissed but I just had a gut feeling.
‘So in April this year I went back to see another pediatrician at the hospital. I said, “Again, I think he has Sanfilippo syndrome,” and he was the first person to say, “I see, but we’re still waiting for the test results, and it could take six to 18 months for them to come back.”
Kole was initially believed to be autistic – with symptoms of the condition very similar to those of Sanfilippo syndrome in young children
“Fortunately, the results of Kole’s genetic testing came back very quickly.”
In April 2026, Kole’s family officially received the heartbreaking diagnosis that he has Sanfilippo syndrome type A – the more severe variant of the condition that rapidly deteriorates.
The moment Kole was diagnosed – and the words the treating doctors spoke to her – still haunt Mrs. Gordon to this day.
She said: ‘The night before we got the results, I just knew: you have a terrible feeling.
‘We went to the hospital the next morning and the doctor said, “You’re right, he has Sanfilippo syndrome – type A. It’s the most serious and the fastest developing.”
“We were told that Kole’s condition was terminal, we needed to please love him and make lots of memories. The NHS is very educational: if they say it’s terminal, it’s terminal.
‘It was a mixed bag of emotions. I was devastated, but I want to keep fighting so that no parent has to feel the way I did, so that no parent has to go into a hospital room and be told, “There is no cure, go home and love them.”
“No family deserves that.”
The average life expectancy for affected children is usually in the mid to late teens. For people with type A, like Kole, life expectancy ranges on average from 11 years to 19 years old
After Kole’s diagnosis, Ms Gordon recalls being told by doctors: ‘There is no cure, go home and love him’
Sanfilippo syndrome, also known as Mucopolysaccharidosis type III, is a rare and terminal neurodegenerative disease manifested in variants A, B, C and D.
Typically, affected children will develop to a certain point before they deteriorate, causing them to lose any skills they have acquired, begin to have movement disorders, and have seizures.
Currently, there are no effective treatments available for Sanfilippo syndrome in the UK; however, clinical trials are available in the United States.
The average life expectancy for affected children is usually in the mid to late teens. For people with type A, like Kole, life expectancy ranges on average from 11 years to 19 years old.
However, Mrs Gordon is determined this will not be the case for her son.
Together with doctors at the Royal Manchester Children’s Hospital – where Kole is now being monitored – they have discovered a revolutionary treatment for children suffering from Sanfilippo, a gene therapy known as UX111.
Developed in the United States, UX111 is an experimental therapy designed to work by solving the genetic cause of the condition and delivering healthy genes to the affected cells.
It is currently awaiting approval from the Food and Drug Administration (FDA); however, a decision is expected within the next month.
Kole’s family have launched a fundraising campaign to raise the £2 million needed to send the toddler to America to receive UX111 – a revolutionary treatment for patients with Sanfilippo syndrome
The UX111 treatment could allow Kole to lead a normal life – with treatment recipients now reportedly playing football, reading and even running
If approved, the treatment would give Kole the best chance at a normal childhood and possibly a full adult life.
Mrs Gordon said: ‘I can’t imagine my life without him – that’s why I’m so desperately and urgently fundraising for the possible treatment.
‘Children with Sanfilippo who have had the same therapy are now running, reading and playing football – it would completely change Kole’s entire prognosis.’
Kole’s family has since had a GoFundMe campaign to raise as much as £2million needed to send toddler to America to receive UX111.
Mrs Gordon said: ‘Two million pounds is such a huge amount, but if two million people each donated £1, the mountain my family has to climb wouldn’t feel so big.
‘SFS waits for no one. We don’t have time to wait and see what our government says and decides. It could take years and years for the treatment to be approved by the NHS, by which time it is too late and Kole deteriorates.
“Our only goal is to get Kole to America. He gets his treatment, and you know what? He will live a healthier, happier, longer life.”
A spokesperson for the Countess of Chester Hospital NHS Foundation Trust said: ‘We recognize how painful it is for any family to be diagnosed with a serious condition, especially one that is life-threatening.
“Our staff is focused on communicating difficult information with compassion, sensitivity and clarity, supporting patients and their families through diagnosis, care planning and ongoing care.
‘Patient confidentiality is paramount and that is why we do not make any statements about the care of an individual patient.’
