Florence Swaffield has been diagnosed with CLN2 Batten’s disease, which is a form of childhood dementia.
The condition currently has no cure and offers a life expectancy of between six and 12 years and will see the young girl lose the ability to communicate, walk and eat or drink independently.
In September 2021, Florence’s parents, Phoebe and Joe, got married in Spain, with Florence running down the aisle as the couple’s flower girl.
However, on return to the UK Florence began to lose the ability to walk and would fall over numerous times a day, with the only words she’s now able to say being “oh uh”.
Phoebe, a government worker for the Department for Transport from Coventry, West Midlands, said: "Since the wedding, Flory’s mobility has significantly declined, and she can’t run like that anymore.
"She doesn’t have the confidence to walk over grass as her legs give way up to 100 times a day.
"It goes to show how quickly this disease can progress.
“We really want to raise awareness about Florence’s disease.
"Most people have never even heard of Batten disease - and wouldn’t think that children could develop a condition like dementia as it’s mostly associated with older people.”
Doctors initially dismissed Phoebe’s concerns that something was wrong when Florence was refusing to eat, drink and started sleeping for up to 22 hours a day as a baby.
Phoebe said: “I noticed something was wrong when Florence came home and never wanted to eat.
“She would also sleep through the night unlike other babies, which really started to concern me.”
It wasn’t until November 2021, aged three, that Florence was finally diagnosed with CLN2 Batten disease, a condition that affects only up to 50 people in the UK.
The test results also confirmed Florence has Ververi-Brady Syndrome, which is a condition characterised by mild developmental and speech delay.
Florence’s parents were both confirmed carriers of the CLN2 Batten disease gene which was passed down to Florence, but the Ververi-Brady syndrome was confirmed as a spontaneous mutation that only developed in Florence.
‘We are saving every penny for a potential treatment’
Phoebe and Joe are now desperately hoping that gene therapy will become available to improve their daughter’s prognosis, but the treatment is only in the research phases in the US as clinical trials are yet to be approved by the Food and Drug Administration (FDA).
In the hope treatment will eventually become available, Phoebe and Joe are trying to raise funds for it.
As part of her treatment, Florence currently receives an enzyme infusion every two weeks at Great Ormond Street Hospital, London, which she will have to undergo for the rest of her life.
Florence is not expected to live into her teenage years and gene therapy would be the only cure, which is why the family have set up a GoFundMe page to aid research into the condition.
Phoebe said: “We are saving every penny for a potential treatment or for technology, anything left over will go to the Batten Disease Family Association and other charities supporting families with Batten disease.”
The family are also preparing to make alterations to their home as Florence continues to lose motor skills in the years ahead.
Phoebe said: “We’ll need wet rooms, ramps and everything to be downstairs.
“There’s pioneering technology coming out all the time and we want to be able to give Florence the best quality of life we can.”
To donate, you can visit Florence’s GoFundMe page.