Two-year-old Kole Pearson from Ellesmere Port in Cheshire has been diagnosed with Sanfilippo syndrome Type A, a rare and incurable variant of childhood dementia, after his mother pushed doctors for genetic testing.
His parents, 33-year-old Beth Gordon and 40-year-old Daniel Pearson, were informed by National Health Service (NHS) doctors in April 2026 that no treatment options are available in Britain for the terminal condition and were advised to go home and make memories with their son.
Refusing to accept the prognosis, the family launched a GoFundMe campaign to raise £2million to send Kole to the United States for an experimental gene therapy called UX111, though they have so far raised just under £15,000.
Ms Gordon, who works full-time as a carer for her son, lives in Ellesmere Port, a town in Cheshire, North West England, with Mr Pearson, a self-employed scaffolder, and their two older children, 10-year-old Koby and eight-year-old Ayla.
Ms Gordon described her son as exceptionally vibrant despite his diagnosis. "Kole is the happiest little boy ever. People constantly comment on how happy and loveable he is," Ms Gordon said. "But I always had a motherly instinct something was not right with his health."
Concerns about Kole's health began shortly after birth when he failed a routine newborn hearing test, something Ms Gordon had not experienced with her older children, and showed an atypical response during a six-week reflex exam.
"One of the first red flags was he did not react properly during reflex exam at six weeks old. He also failed a newborn hearing test," Ms Gordon said. "He then failed two more hearing tests - we later learnt he has severe hearing loss in his left ear and mild to moderate hearing loss in his right. It was always suspected he had global developmental delay, as a result. Then autism was put on the table."
Autism Suspicions and TikTok Discovery
Ms Gordon observed additional symptoms in Kole, including a floppy neck, stimming, sensory-seeking behaviour, and hand-flapping, which closely resemble early developmental indicators of autism spectrum disorder.
"I did believe Kole could potentially be autistic - he was a flappy baby, very stimmy and very sensory seeking," Ms Gordon said. "I now know autism and Sanfilippo present very similarly in young children - which is often why Sanfilippo can be misdiagnosed or not picked up on until the child is five or six years old."
The turning point in identifying Kole's condition occurred after his third failed hearing test, when Ms Gordon was scrolling on social media platform TikTok and viewed a video of an American child with Sanfilippo syndrome who shared identical symptoms with her son.
"After the hearing test, coincidentally I was scrolling on TikTok and came across a little girl in America that was identical to Kole - she had Sanfilippo syndrome," Ms Gordon said. "I then googled the disorder and started crying - instinctively I knew Kole matched. I then rang my mum to tell her that I knew this condition is what Kole has."
Following her discovery, Ms Gordon contacted Kole's paediatrician at the Countess of Chester Hospital in Cheshire to request urgent genetic testing, but she said her initial concerns were repeatedly dismissed due to the rarity of the syndrome.
"Kole's doctors said Sanfilippo is so rare that it probably is not that - I was brushed off constantly, but I just had a gut feeling," she said.
In April 2026, Ms Gordon visited a different paediatrician at the hospital who acknowledged her concerns and ordered genetic testing, though he warned that results typically take six to 18 months.
"I said, 'Again, I think he has Sanfilippo syndrome,' and he was the first person that said, 'I see it - but we are still waiting for the test results, which could take anything between six to 18 months to come back,'" Ms Gordon said. "Luckily, the results of Kole's genetic testing were really quick."
Terminal Diagnosis and Medical Outlook
The genetic test results confirmed that Kole has Sanfilippo syndrome Type A, the most severe and rapidly progressing variant of the illness.
"The night before we got the results, I just knew - you've got this awful feeling," Ms Gordon said. "We went to the hospital the following morning, and the doctor said: 'You are right, he has got Sanfilippo syndrome - Type A. It's the most severe and the quickest progressing.'"
Hospital medics informed the family that the condition was terminal and offered no curative treatment options on the NHS.
"We were told Kole's condition was terminal, to please love him and make lots of memories," Ms Gordon said. "The NHS are very textbook - when they say it is terminal, it is terminal. It was a mixed bag of emotions. I was devastated - but I want to fight on so no parent has to feel like I do, so 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."
Sanfilippo syndrome, also known as Mucopolysaccharidosis type III (MPS III), is a rare and fatal neurodegenerative disorder that prevents the body from breaking down complex sugar molecules, leading to severe brain damage over time.
Affected children typically develop normally during early childhood before experiencing skill regression, loss of mobility, cognitive decline, movement disorders, and seizures.
The overall average life expectancy for children with Sanfilippo syndrome ranges into the mid-to-late teens, while children diagnosed with Type A have an average life expectancy of 11 to 19 years.
Experimental Gene Therapy and US Campaign
Kole is currently monitored by medical specialists at the Royal Manchester Children's Hospital in Manchester, where doctors identified a potential treatment called UX111.
UX111 is an experimental gene therapy developed in the United States that aims to repair the underlying genetic cause of Sanfilippo syndrome by transferring healthy genes into affected cells.
The therapy is currently awaiting regulatory approval from the US Food and Drug Administration (FDA), with an official decision expected within the next month.
If approved, UX111 could alter Kole's prognosis, offering the possibility of a normal childhood and adult life. Recipients of the treatment in trial programs are reportedly able to run, read, and play football.
"Children with Sanfilippo who have had the same therapy are now running, reading and playing football - it would completely change Kole's whole prognosis," Ms Gordon said. "I can't imagine my life without him - that is why I am so frantically and urgently fundraising for the potential treatment."
To fund the £2million treatment in America, the family established a GoFundMe campaign, seeking widespread support to reach their target.
Ms Gordon noted that delays in domestic approval processes mean waiting for NHS access is not a viable option for her son.
"Two million pounds is such a massive amount of money, but if two million people all donated £1, that mountain my family have to climb wouldn't feel so huge," Ms Gordon said. "SFS doesn't wait for anybody. We don't have time to sit and wait and see what our government says and decides. It could take years and years for treatment approvals on the NHS, and by then it's too late and Kole is regressing."
She added: "Our one goal is to get Kole over to America. He will have his treatment, and do you know what? He'll live such a healthier, happier, longer life."
A spokesperson for the Countess of Chester Hospital NHS Foundation Trust said: "We recognise how distressing it is for any family to receive a diagnosis of a serious condition, especially when it is life-limiting. Our staff are focused on communicating difficult information with compassion, sensitivity and clarity, and they support patients and their families throughout diagnosis, care planning and ongoing care. Patient confidentiality is paramount and so we will not comment on the care of an individual patient."
