Raising peak awareness of rare condition

TILLY'S FAMILY FUNDRAISING TREK

- By DEBORAH HALL

MEMBERS of a family in Hull are to take on the National Three Peaks challenge in order to raise money and awareness of an incredibly rare condition affecting their five-year-old daughter.

Tilly Thistleton was diagnosed with MPS3A (also known as Sanfilippo Syndrome) in October 2023 following genetic testing. MucoPolySaccharidosis (MPS3A) is a rare genetic condition affecting only one in 70,000 live births with no treatment or cure.

It is a life-limiting, progressive fatal disease which primarily affects the cells in the brain, and is considered a type of childhood dementia. Tilly is currently the only known case in Hull and is under the care of the genetic/metabolic unit at Manchester Children's Hospital, with medical professionals in Hull never having come across the condition before meeting Tilly.

During the diagnosis, Tilly's parents Pam and Stuart also found out they were both genetic carriers of the condition, which resulted in a one in four chance of them having a child with MPS3A, something they were unaware of until her diagnosis.