Bid to find answers for brave six-year-old Fife girl diagnosed with rare genetic mutation

The family of a six-year-old St Andrews girl, who was diagnosed with a rare genetic mutation, have launched a fundraiser in a bid to find answers.
Mia Rose Henderson has a rare genetic mutation.Mia Rose Henderson has a rare genetic mutation.
Mia Rose Henderson has a rare genetic mutation.

Mia Rose Henderson has an extremely rare genetic mutation in her KIF5B gene – so rare that there are no other registered cases in the world – and is likely to suffer significant health problems.

She already has issues with her eyesight, hearing and speech, and has recently started having problems with her legs.

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Despite the diagnosis, a lack of research means there is no treatment available to Mia Rose through the NHS. In a bid to learn more about the mutation and the long-term implications it could have for Mia Rose, her family have booked an appointment with one of the UK's leading geneticists in London in March.

Mum Chloe has also been in correspondence with Ron Vale, the man who first discovered the faulty motor protein gene in 1984.

To help raise the funds required for the London appointment, the family have launched a gofundme for £5000 – and generous donors have already given more than £4220 towards that goal.

"It’s amazing," said Chloe. “It’s blown me away. The town has come together to help. There has been some anonymous donations of £1000, and I just want to thank them.

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"It makes me tear up to know how much people care. As a student I would never have been able to find that money. I would have been lost.”

The generous donations have come during a tough period for the Hendersons.

Mia Rose has had issues since birth. She has been plagued by eyesight problems and was late hitting her development milestones, and even now struggles to walk long distances without assistance. She has had genetic tests since she was born and took part in a Scottish genome project.

Then, in the last week, Mia Rose was diagnosed with the genetic mutation that is likely to cause neurodegenerative disease.

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"It’s been a big shock,” said Chloe. "It's a relief because we have been waiting for answers since she was born. We spent days crying and in shock.

“Getting help will be so difficult. Because it is so rare, the NHS does not have the funds to research it. We’ve got the diagnosis but we don’t know what to do.

"The long-term future will be progressive problems with her sight, hearing, seizures, her legs. We don’t know what might happen.”

The lack of answers, and the issues facing her daughter, has inspired Chloe.

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"I want to find an answer,” she said. “I’m at the University of St Andrews doing biology. I've done so much research at home.

"Mia Rose has inspired me. When your child is getting all these mysterious problems, you want to make a difference. There are people like us who don’t know what the future holds, and I just want to help those people.

"I’ll pursue my studies and go and find an answer myself."

Chloe also made an appeal for people with similar symptoms to contact her on Facebook: “There is bound to be someone else out there with symptoms like hers.”

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