A mother has discovered her son’s rare, fatal condition through a chance encounter on TikTok, leading her on a desperate mission to secure life-saving treatment. Beth Gordon, a mother living in the UK, is now working to get her son Kole access to a new gene therapy after realizing he shared physical traits with another child she saw in a video.
As reported by Unilad, Kole was born in July 2024 via C-section. While he had a short stay in the NICU for minor complications, he soon joined his family at home. Beth first grew concerned around his six-week checkup.
She noticed his head control was poor, but doctors initially told her not to worry. During a later hospital visit, a nurse noticed his head size. Beth said to us: “Funnily enough, I had a really big head as a baby, so we never really thought about it. He was just our little ‘moon head’. That’s what I got called, and I thought it was quite cute.”
He has type A Sanfilippo Syndrome
Kole eventually received a diagnosis of BESS, a condition involving extra fluid around the brain, but Beth continued to notice developmental delays. He did not start walking until he was 19 months old. Her search for answers took a turn when she saw a video on TikTok.
“There was a little girl from America that popped up, and she had Sanfilippo Syndrome,” Beth recalled. “I was like, ‘That looks a lot like Kole’. She had a big head, the big bushy eyebrows, the same nose, the same mouth and everything.”
After Googling the condition, Beth had her suspicions confirmed through genetic testing. Kole has type A Sanfilippo Syndrome, a condition often called childhood dementia. The Sanfilippo Children’s Foundation notes that the condition causes waste to build up in brain cells, leading to severe issues like loss of speech, cognitive decline, and seizures. It typically results in death before adulthood.
There is currently no treatment for this in the UK, but a new gene therapy called Fayuvi was approved by the FDA. Acting FDA Commissioner Kyle Diamantas said that Fayuvi “holds tremendous promise for rare diseases like Sanfilippo syndrome type A”.
The treatment reportedly works by delivering a working copy of the SGSH gene into the patient’s cells. This allows the body to produce the enzyme missing in patients, which helps break down harmful buildup in the brain and body.
Kole is currently in a race against time. Children with this condition often start to regress between the ages of three and six. If he receives the treatment before that window closes, his brain and body may not deteriorate.
Beth explained that Kole has not lost any abilities yet, though he does have Global Development Delay. She fears that waiting for the NHS to potentially approve the treatment will take too long. “Time is being taken away from him,” Beth continued. “We’ve seen what he can do in two and a half years and how much he can learn.”
Because the treatment is expensive, the family is fundraising through GoFundMe to reach a target of £2 million. They are hoping to stop the disease before the expected plateau and subsequent decline. As Beth noted, the stakes could not be higher. “He’ll be lucky if it makes it to his 15th birthday,” she added. “But if we get him the treatment, he’ll go on to live a whole, happy life.”
Published: Oct 19, 2026 06:15 am