Medics initially suspected two-year-old Kole Pearson of being autistic or having Global developmental delay when he failed newborn hearing tests and exhibited missed milestones. His mother, Beth Gordon, however, pursued further testing after seeing a TikTok video of a child with Sanfilippo syndrome, a rare neurodegenerative disorder also known as childhood dementia. This led to Kole's diagnosis in April with Sanfilippo syndrome Type A, a severe variant with no treatment options available on the NHS.
Sanfilippo syndrome typically causes children to develop normally for a period before regressing, leading to loss of acquired skills, movement disorders, and seizures. The average life expectancy for affected children is the mid-to-late teens, but for Type A, it ranges from 11 to 19 years old. Doctors advised Kole's parents to focus on making memories, stating the condition was terminal.
Despite the grim prognosis, Gordon and her partner Daniel Pearson are determined to pursue an experimental gene therapy called UX111, available through clinical trials in the United States. This treatment aims to address the genetic root of the condition by delivering healthy genes. While it awaits potential FDA approval, it offers hope for children with Sanfilippo syndrome. Recipients of similar therapies in the U.S. have reportedly returned to activities like playing football and reading.
The family has launched a GoFundMe campaign to raise the estimated $2 million needed for Kole's treatment. So far, they have raised approximately $15,000. Gordon emphasized the urgency, noting that delays in NHS approval could render treatment ineffective as Kole's condition progresses. They aim to get Kole to America for treatment, hoping for a healthier, happier, and longer life for him.
A spokesperson for the Countess of Chester Hospital NHS Foundation Trust acknowledged the distress of such diagnoses and stated that staff are trained to communicate difficult information with compassion and sensitivity, supporting families throughout their care. The trust declined to comment on individual patient cases due to confidentiality.