Florence Swaffield has been diagnosed with the rare disease CLN2 Batten and is thought to be the youngest person in Britain to have the disease. She also has Ververi-Brady syndrome, which causes developmental delay
A three-year-old girl loses the ability to walk due to cruel childhood dementia.
Just seven months ago, brave Florence Swaffield jumped down the aisle at her parents’ wedding.
Now her legs are constantly giving way. And, heartbreakingly, things will only get worse.
Florence was diagnosed with the rare CLN2 Batten disease in November and is believed to be the youngest in Britain to have the condition.
She also has Ververi-Brady Syndrome, which causes developmental delay – and is the only person in the world with these two mutations occurring simultaneously.
There is no cure for CLN2 Batten and she will suffer loss of sight and the ability to eat or drink without help.
Parents Pheobe and Joe say her mobility has deteriorated since she was their bridesmaid last September.
Pheobe, 29, said: “The video of Florence running down the aisle and giving Joe the rings is priceless to us now. We weren’t expecting the news that came months later.
“Flory’s mobility has decreased considerably and she can’t run like that anymore. She lacks the confidence to walk on the grass because her legs give way up to 100 times a day.
“It’s heartbreaking to know that one day she won’t be able to run in the park or watch her favorite cartoons.”
The girl has never been able to speak and is not expected to live to be a teenager.
Her parents – who say she has ‘the most infectious belly laugh’ – are fighting to give her the best possible life by raising £100,000 in the hope of getting a pioneering treatment.
Pheobe, who works for the Ministry of Transport, adds: “We want to raise awareness about Florence’s disease.
“Most people have never even heard of Batten disease and don’t think children could develop dementia because it’s mostly associated with older people.
“Even after his diagnosis, pediatricians and GPs had to Google. 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 slept 22 hours a day.
She largely refused to feed – and was sick when she did. This led to her being hospitalized for dehydration several times during her first year. Pheobe says medical staff dismissed her concerns, adding: ‘It was an ongoing cycle of stress and I was the only person who knew something was wrong.
“When they said ‘wait’ it was like being punched in the chest because I knew something was wrong. I started asking the professionals, ‘Are you going to wait for her to die until you believe me?’ »
At one time, Florence was smaller and less cognitively developed than her peers. And in January 2020 Pheobe and Joe, 31 – who run a tech company – returned to Coventry, West Mids, to seek better support.
Over the next 22 months, Florence was referred to a dysphagia specialist, dietitian and speech therapist and tested for genetic syndromes. Then came the devastating results which confirmed she was one of 50 UK children with CLN2 Batten disease.
Phoebe says, “Joe and I collapsed on our couch. This is something no parent should have to hear.
“I just didn’t know life could be so cruel and I didn’t think it could happen to our family.”
The family think gene therapy can help Florence, but it is only at the research stage in the United States.
They started the fundraiser in the hope that it would become available and have so far raised £50,000. Any remaining money will be donated to the Batten Disease Family Association and other charities.
Florence receives a fortnightly enzyme infusion at Great Ormond Street Hospital in London and will need it for the rest of her life.
The family are also planning to make modifications to their home – to install a shower room and ramps – as Florence will eventually need a wheelchair and a feeding tube.
Pheobe said: “There is pioneering technology coming out all the time. We want to be able to give Florence the best possible quality of life.
To donate, visit gofundme.com/f/florys-story