What began as concerns over missed developmental milestones and failed hearing tests for two-year-old Kole Pearson of Ellesmere Port, Cheshire, evolved into a devastating diagnosis of Sanfilippo syndrome Type A, a rare and incurable neurodegenerative disorder. Doctors initially suspected autism or Global Developmental Delay (GDD) due to symptoms such as stimming and a floppy neck, but his mother, Beth Gordon, pursued further testing.
Gordon's suspicions were heightened after seeing a TikTok video of a child with Sanfilippo syndrome, recognizing similar traits in her son. She noted that autism and Sanfilippo syndrome can present similarly in early childhood, often leading to delayed diagnoses. Following her persistence, Kole underwent genetic testing, confirming the Sanfilippo syndrome diagnosis in April 2026. Doctors informed the family that Kole's specific variant, Type A, has no available treatment options through the NHS and advised them to focus on making memories with their son.
Sanfilippo syndrome, also called Mucopolysaccharidosis type III, affects children's cognitive abilities, movement, and lifespan. Type A is the most severe variant, with affected children typically living into their late teens. However, without treatment, the prognosis is grim.
Despite the bleak outlook, Gordon and her partner Daniel Pearson are actively fundraising for an experimental gene therapy called UX111, available only in the United States. This treatment aims to address the genetic root of the condition by delivering healthy genes to affected cells. The family has launched a GoFundMe campaign to raise the £2,000,000 required for the treatment, though they have raised approximately £15,000 thus far. The U.S. Food and Drug Administration (FDA) is expected to make a decision on UX111 approval within the next month.
If approved, UX111 could significantly alter Kole's prognosis, potentially allowing him to lead a more normal life. Children who have received similar therapy in the U.S. have reportedly shown improvements in motor skills and cognitive functions, engaging in activities like playing football and reading.
A spokesperson for the Countess of Chester Hospital NHS Foundation Trust acknowledged the distress of such diagnoses and affirmed their staff's commitment to compassionate communication and support for patients and families. They also stated that patient confidentiality prevents comment on individual cases.