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. Tilly’s dad Stuart will take on the Three Peaks on Friday (May 16) during MPS Awareness Week, with 12 family members and friends, with the aim of raising as much money as possible, and awareness, for the MPS Society.
Stuart said: “When we received Tilly’s diagnosis we were absolutely devastated to be carriers of a condition which we had never heard of. To then pass it onto our daughter was heart-breaking.
(Image: supplied image)
“Now we are over the shock of what that means for our family long term, the only thing we can do is raise as much awareness as we can by sharing events like this and raise as much money as we can to support the MPS Society. By doing this challenge we hope to raise awareness of Tilly’s condition as it is still pretty much unknown in the UK and hopefully raise funds to help the MPS Society continue supporting people and families affected by MPS, through research, support services and raising awareness.”
The family live at Kingswood in Hull and Tilly attends Kingswood Parks Primary. Her mum, Pam, said: “We are planning to live the best life we can.
“We don’t know what that’s going to be for Tilly. If we want to go on holiday, we will go on holiday, rather than thinking ahead.
“It’s about making memories for Tilly’s older sister Polly, who is seven, as well. We have to be as strong as possible for our kids.”
Pam described Tilly as “literally a bundle of explosiveness”. She said: “Tilly will tackle anything head-on; she’s not got that awareness of safety.
“Her character is very unique – she’s a whirlwind and she’s into everything. She’s such a happy and loving little girl – she loves Peppa Pig and Ben and Holly’s Little Kingdom.
“She started school in September and has settled in. She’s managing as much as she can and the school has been really good – they are fundraising this week, on Friday, and have sent a newsletter out to other parents.”
Pam, who will be one of the minibus drivers supporting the Three Peaks walkers, said: “My sister will look after the kids as the challenge is overnight. Polly is so calming in her nature and will do anything she can for Tilly.
“She says of Tilly, ‘her brain doesn’t work the same as mine’, and they get on so lovely together.”
The Walk for Tilly T, as the Three Peaks event has been dubbed, has a Just Giving page that can be found here.
MPS Awareness Day – and Wear it Blue
International MPS Awareness Day, on Thursday, May 15, is an important date to highlight the rare and often unknown MPS conditions. Each year, a week of events surrounding the day help to raise awareness and to share stories of those affected.
Schools, community groups or workplaces can get involved by organising a Wear it Blue event. Wear it Blue runs all year round but reaches another level during MPS Awareness Week.
On May 15, supporters across the UK will be donning their bluest clothes and accessories to raise money and awareness for the MPS Society’s vital work.
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