Florence Swaffield has been diagnosed with the rare Batten disease CLN2 and is believed to be the youngest in the UK with the disease. She also has Ververi-Brady Syndrome, which causes developmental delay
A three-year-old cucumber loses the ability to walk due to the dreadful condition of childhood dementia.
Just seven months ago, brave Florence Swaffield walked down the aisle at her parents’ wedding.
Now her legs keep giving out. And heartbreakingly, things will only get worse.
Florence was diagnosed with the rare Batten disease CLN2 in November and is believed to be the youngest in the UK with the disease.
She also has Ververi-Brady Syndrome, which causes developmental delay – and is the only person in the world to have these two mutations at the same time.
There is no cure for CLN2 Batten and she will lose sight and be unable to eat or drink unaided.
Parents Pheobe and Joe say her mobility has decreased since she was their flower girl last September.
Pheobe, 29, says: “The video of Florence running down the aisle and giving the rings to Joe is priceless to us now. We didn’t expect the news that came months later.
“Flory’s mobility has dropped a lot and she can’t walk like that anymore. She doesn’t dare to walk on grass as her legs give out up to 100 times a day.
“It’s heartbreaking to know that one day she won’t be able to walk around the park or watch her favorite cartoons.”
The young woman was never able to speak and is not expected to reach her teenage years.
Her parents – who say she has “the most contagious belly laugh” – are fighting to give her the best life possible by raising £100,000 in hopes of a breakthrough treatment.
Pheobe, who works for the Department of Transport, adds: “We want to raise awareness about Florence disease.
“Most people have never heard of Batten’s disease and would not believe that children could get dementia as it is mostly associated with older people.
“Even after their diagnosis, paediatricians and general practitioners had to google it. If more doctors knew, children would be diagnosed earlier and have a better quality of life.”
Florence was born in October 2018 when her parents lived in El Masnou, near Barcelona. She was only a few weeks old when she
started making hacking noises and sleeping 22 hours a day.
She largely refused to eat – and was ill while doing so. This resulted in her being hospitalized several times during her freshman year for dehydration. According to Pheobe, the medical staff dismissed her concerns, adding, “It was a continuous cycle of stress and I was the only person who knew something was wrong.
“When they said ‘just wait,’ it was like a punch in the chest because I knew something was wrong. I started asking the professionals, ‘Are you going to wait until she dies to believe me?'”
For one thing, Florence was smaller and less cognitively developed than her peers. And in January 2020 Pheobe and Joe, 31 – who run a tech company – moved back to Coventry, West Mids to seek better support.
Over the next 22 months, Florence was referred to a dysphagia specialist, nutritionist, and speech therapist and was evaluated for genetic syndromes. Then came the devastating results, which confirmed she was one of just 50 British children with CLN2 Batten disease.
Pheobe says, “Joe and I just fell onto our couch. It’s something no parent should hear.
“I just didn’t know life could be so cruel and never thought it could happen to our family.”
The family thinks gene therapy could help Florence, but it’s still at the research stage in the US.
They started the fundraiser in hopes it would become available and have raised £50,000 so far. Any money left over will be donated to the Batten Disease Family Association and other charities.
Florence is given an enzyme infusion every two weeks at Great Ormond Street Hospital in London and will need it for the rest of her life.
The family also plans to make changes to their home – to add a wet room and ramps – as Florence will eventually need a wheelchair and a feeding tube.
Phoobe said, “Breakthrough technology comes out all the time. We want to offer Florence the best possible quality of life.”
To donate, visit gofundme.com/f/florys-story
https://www.mirror.co.uk/news/uk-news/girl-3-loses-ability-walk-26726938 Girl, 3, loses the ability to walk after being diagnosed with cruel childhood dementia