The parents of a two-year-old boy from Ellesmere Port have received a devastating diagnosis after his mother spotted similarities with a child in a TikTok video. Kole Pearson was officially diagnosed with Sanfilippo syndrome in May 2026, a rare and terminal disease that affects development and leads to early death.
Early Delays and Concerns
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 his mum Beth Gordon and dad Daniel Pearson that it was part of his global developmental delay, a diagnosis given to children under five who are significantly behind in two or more key areas of development.
Beth, 33, who is also mum to Koby, 10, and Ayla, seven, told the ECHO: “Kole always had global development delay. The first thing I noticed was at his six-week check-up. They do a test where they lift the baby to see the baby's head strength. Kole had absolutely no head strength. I thought, that's a bit odd. From that point onwards, everything was delayed. Everything came really slow. He didn’t sit up until he was about 14 months old. He wasn’t walking for 19 months. The doctors were a bit like, ‘it's a global development delay, he might come on by the age of five, he might not'.”
TikTok Video Leads to Diagnosis
As Christmas 2025 approached, Beth was told Kole had severe hearing loss in his left ear with mild to moderate hearing loss in his right ear. She then stumbled across a worrying TikTok video. Beth said: “I was thinking, maybe there's something a little bit off. And then that evening, I was just scrolling through TikTok. There was a little girl from America, and she had something called Sanfilippo syndrome. I thought, ‘wow, that little girl looks exactly like Kole does'. So I Googled what Sanfilippo was. Then I thought, this is what my child has. I rang my mum crying.”
Children with Sanfilippo syndrome develop normally at first but as it progresses, it delays their development of speech, learning and walking, and causes severe behavioural problems such as hyperactivity, anxiety and difficulty sleeping. Eventually, children lose their speech and mobility and die early, usually during their late teens. It is also known as childhood dementia due to its effects on the brain and nervous system.
Race Against Time for Treatment
Kole’s diagnosis came unusually early, with most children not diagnosed until symptoms worsen between the ages of two and five. Beth said: “Kole has a mid-teen life expectancy, like other kids with the diagnosis. I didn’t take it well, obviously. I feel like a black cloud will be over me for the rest of my life. I don’t think I’ll ever be the same but I’ve got a fight in my tummy and I won’t stop until I get him to where he needs to be.”
The family are now fundraising to secure access to the UX111 treatment for Sanfilippo syndrome in America. This treatment has the potential to completely change Kole’s prognosis by preserving his cognitive and motor skills, but still needs to be approved by the Food and Drug Administration (FDA) in the US, with a decision expected next month. Current estimates show a minimum of £2m is needed for treatment, and Beth says Kole is facing a race against time.
Beth said: “At the minute, the brain damage hasn't begun. I think it is meant to plateau in the next year or so. That's why it's so important to get the treatment as soon as possible because any regression that he does have, any brain damage that happens, the treatment will never reverse it. So if he loses the ability to swallow for example, he can't gain that back with treatment.”
A huge fundraising campaign has already raised over £13,000 thanks to events such as Kole’s Carnival last weekend. There is also a plan for 25 men from Ellesmere Port to drive from the town to Benidorm at the end of the month. The cars were all bought for less than £600 and are decorated advertising Kole’s campaign. The support received has meant a huge amount to Beth and the family. She said: “It’s just incredible. It's just building that momentum, and I won't stop.”
