Boy with rare disease completes Ironkids Wales with walker

The mother of an eight-year-old boy with a rare disease has spoken of her pride at seeing him complete Ironkids Wales with a walker.

Isaac Tilley was officially diagnosed with CLN2 Batten Disease – an inherited condition which causes childhood dementia, epilepsy, and loss of sight – on August 5 2021 at St John Radcliffe Hospital in Oxford.

On Saturday, he took part in Ironkids Wales, a “run only” event for those aged between three and 15 in Tenby, Pembrokeshire, where he speedily covered 500m using his walker and was rewarded with a medal.

Isaac’s father Adrian Tilley, who is 49 and a project engineer, has tackled triathlons for the past 15 or so years and competed in Ironman Wales on Sunday and in the run-up to the event, thought it would be good for his son who “loves to be on his feet” to take on Ironkids Wales.

Isaac’s mother and full-time carer Aimee Tilley, who is 37 and lives with her family in Kettering, Northamptonshire, told the PA news agency: “Isaac just loved the atmosphere yesterday.

“Everyone was cheering for him and saying his name and although he didn’t understand exactly what he was doing yesterday, we were describing it to him as if he were doing a race and he smiled; it brings him so much joy.”

Mrs Tilley zip tied posters with the words “I can’t see you. Please cheer for me” and “Go Isaac” to Isaac’s walker to try and rally the crowd to support her son.

“With Isaac’s type of Batten Disease, he’s losing his sight so he can’t see very far in front of him,” she said.

“We put the posters on the walker because we wanted people to say his name so he would know they were cheering for him and it helped him to go that little bit faster.

“I welled up a bit when he finished because I was so proud of him and also grateful to those who cheered.”

Reflecting on the day of her son’s diagnosis, Mrs Tilley said she and her husband felt an array of emotions.

“Adrian was asking questions and he asked about life expectancy and the neurologist said between the ages of six and 12 and it was like an out of body experience – I just wasn’t in the room anymore,” she said.

“Adrian sat and cried and I just wanted to run to my son and run away.”

Since that day, she said she has “always had a fight in me” and tries her best to give her son, who has always had a determination to undergo treatment and be active, the best possible life.

Treatment

For the past year, Isaac has been going to Birmingham Children’s Hospital every two weeks for treatment to delay the progression of the disease called Brineura, an enzyme replacement treatment, into his brain fluid since those with his type of batten disease lack the enzyme tripeptidyl peptidase 1 (TPP1) which clears brain cells of waste.

He also sees neurologists, nurses, a nutritionist and a speech therapist at Birmingham Children’s Hospital.

He previously undertook treatment at Great Ormond Street Hospital.

Alongside preparing for the latest challenge, Mrs Tilley set up a GoFundMe page to raise money for physio sessions for Isaac at Napa Centre London to keep him as active and strong as possible – and the £115 target was smashed in a short space of time.

“We just really wanted to do something to focus on Isaac’s physical ability and apparently they have a speech and language therapist there too who may be able to help strengthen his facial muscles and swallowing skills,” she said.

“Although Isaac’s swallowing is currently okay, they can use this machine to help strengthen those muscles.

“The goal was £115 as that is the cost of one physio session and we thought if we raised enough for one session that would be amazing, but the donation total is now over £1,400 which will pay for a huge amount of physio and will be able to keep him strong.”

More information about Isaac’s story and his fundraising page can be accessed here.