A little boy is one of 300 in the world with a specific condition combination and there is no cure – but his parents are determined to find one.
Tom and Kimberley Giles were overjoyed to bring home their second child, Jenson.
But at just two days old, the pair, both aged 34, suffered every parent’s worst nightmare.
READ MORE: Brit mum living with invisible cancer that can’t be treated because it isn’t growing fast enough
The tot, now aged four, collapsed and stopped breathing suddenly – and they feared he was slipping away from them.
After numerous tests, it was found he had Phelan-McDermid Syndrome (PMS) and Ring 22.
It’s estimated there are only 300 cases like this in the world according to CureSHANK charity; and there’s no cure.
“I was left shocked and scared when he stopped breathing,” the sports agency founder, from Bath, told Need To Know.
“Dozens of doctors came rushing into his room and we were taken away.
“I genuinely thought we might lose him.”
Jenson spent the next three weeks in hospital before receiving his diagnosis with PMS in December 2021.
The condition is a genetic disorder, which in most cases causes developmental delays, intellectual disability, absent or delayed speech and autism.
Other potential issues include low muscle tone, seizures, gastrointestinal issues and lack of ability to sweat or sense pain.
It’s unclear if Jenson will be affected by all – if any – of these symptoms, as each case is unique.
As there’s only 100 people in the UK with PMS, according to King’s College London, there is little-to-no research – and therefore, no treatment or cure.
Tom said: “I didn’t even know syndromes like this existed.
“Both me and my wife were shocked.
“Though we adopted a positive mindset very quickly in the hopes to give Jenson everything he needed to improve his quality of life.
“I’ve always maintained that I thought we were going to lose him in that hospital room.
“So I feel incredibly blessed that he is such a strong and determined boy.”
In 2022, he had further blood tests which confirmed Ring 22.
It’s where the ends of a person’s chromosome 22 break, fusing back together to form a ring shape, losing genetic material in the process.
While there are no other complications as a result, it does exacerbate Jenson’s current condition.
Over the years, he’s missed important milestones, such as smiling, pointing, sitting, crawling and walking.
Currently, though, he has learned to stand up while holding onto something and loves to climb.
Even though he can’t speak, he is starting to learn how to communicate and is making steady progress.
Nobody else in their immediate family, including his siblings Lana, six and Oakely, two, have either condition.
To give their son a voice, Tom and Kimberley are sharing his story to raise awareness, with the hopes other people like him will come forward, too.
Tom has previously ran nine marathons in nine days to raise £25,000 to fund vital research into a cure or treatment.
And with the news of recent clinical trials focusing on gene therapy for those with PMS, there’s increased hope for the family.
He added: “Jenson is a blessing and he slots into our family perfectly.
“There are, of course, challenging parts, but he gives us joy every day.
“The hardest part is growing frustration, which is causing him to shout a lot more, as he wants to communicate what he’s feeling – but just can’t.
“Remaining positive is the only way I know how to act.
“It’s the best way to approach any difficulties life has to throw at you.
“Our biggest ambition is to improve his quality of life, so he can carry out everyday tasks in the future – with the hope he will one day be able to walk and talk.
“As long as he’s happy, content and loved, that’s all that matters.
“I don’t feel sorry for Jenson, or ourselves.
“I’m extremely proud of him and will continue to use my voice while he is unable to.”
