The mum of a little girl with a rare genetic mutation hopes to research the condition herself – after quitting her job to study biology.
Six-year-old Mia-Rose Henderson was diagnosed with the extremely rare genetic mutation KIF5B – and is the only known person in the world to have it.
She has had health problems since she was born and suffers from issues with her hearing, speech and eyesight.
Worried mum Chloe, 29, said Mia-Rose’s health is likely to deteriorate as she gets older and fears she will end up in a wheelchair.
In 2018 she gave up her career as a restaurant manager and went back to college to get the grades needed to study biology at the University of St Andrews.
Chloe said there is no NHS funding for research into Mia-Rose’s condition and hopes to research the mutation herself to find out the long-term implications for her daughter.
Mum-of-two Chloe, from St Andrews, Fife, said: “Mia-Rose has always been a poorly little girl.
“It has all been a mystery since she was born and she was in the special care baby unit.
“She didn’t thrive, she didn’t put on any weight and didn’t meet her milestones.
“We were back and forth to the doctors with her all the time because we knew there must be something underlying.”
Mia-Rose had a chromosome test but nothing showed up on the results and in 2018 she was put forward by medics for the Scottish Genomes Programme.
But the 18-month-long programme failed to come up with any answers and Chloe decided to study biology in the hope her own research would help Mia-Rose.
Just two weeks ago, Mia-Rose was finally diagnosed with KIF5B, but Chloe said they don’t know how the mutation will affect her.
Chloe said: “Mia-Rose went for a check-up recently and they found she needed hearing aids.
“They did some tests to work out if it was due to another health condition and that’s when we got the call to say the doctors discovered the KIF5B mutation.
“It was a complete shock to get that call and we have spent a lot of time crying.
“We don’t know what the long term implications will be, she will have problems with her eyes, ears and legs, and those are likely to continue deteriorating.
“The NHS don’t have funding to research such a rare mutation and until research into it is done we won’t know what it will mean for her in the future.
“I gave up my career as a restaurant manager to go back to college because I knew I wanted to get into St Andrews University to study biology.
“I just thought I am going to do this, I will try and find an answer if no one else can.
“If anyone is going to find answers it’s going to me – a parent who has the drive to find out, other people won’t have that drive.
“I need some sort of hope. I just want to be able to understand – it’s so scary not knowing.”
Chloe has even been in touch with the man who first discovered the faulty gene in 1984 – Ron Vale, 62, from Virginia – in a desperate bid to find answers.
She said: “I reached out to Ron in the hope he would get back to me and amazingly he got back to me and asked for more information to see if he can help.
“He hasn’t been able to find anyone with the same mutation.
“We have joined parent forums to try and find anyone else who has similar symptoms.
“There must be someone else out there with this mutation.”
In a bid to learn more about the mutation Chloe has booked an appointment with one of the UK’s leading geneticists in London in March.
To help raise the funds required for the appointment, the family have launched a fundraiser with more than £5000 already raised.
To donate visit here.
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