Florence Swaffield was diagnosed with rare CLN2 Batten Disease and is thought to be the youngest in Britain with the illness. She also has Ververi-Brady Syndrome, which causes developmental delay
A gurk aged three is losing the ability to walk because of the cruel condition child dementia.
Just seven months ago, plucky Florence Swaffield skipped down the aisle at her parents’ wedding.
Now her legs constantly give way. And, heartbreakingly, things will only deteriorate further.
Florence was diagnosed with rare CLN2 Batten Disease in November and is thought to be the youngest in Britain with the illness.
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 unaided.
Parents Pheobe and Joe say her mobility has deteriorated 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 weren’t expecting the news that came months later.
“Flory’s mobility has significantly declined and she can’t run like that any more. She does n’t have the confidence to walk over grass as her legs give way up to 100 times a day.
“It is heartbreaking to know she will one day be unable to run around the park or watch her favorite cartoons.”
The youngster has never been able to talk and is not expected to live into her teenage years.
Her parents – who say she has “the most infectious belly laugh” – are fighting to give her the best life possible by raising £100,000 in the hope of getting pioneering treatment.
Pheobe, who works for the Department for Transport, adds: “We want to raise awareness about Florence’s disease.
“Most people have never even heard of Batten Disease and wouldn’t think children could develop dementia as it’s mostly associated with older people.
“Even after her diagnosis, pediatricians and GPs had to Google it. If more doctors were aware, 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
began making hacking noises and slept for 22 hours a day.
She largely refused to feed – and was sick when she did. It led to her being hospitalized for dehydration on several occasions in her first year. Pheobe says 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 getting a punch in my chest because I knew something wasn’t right. I started to ask the professionals, ‘Are you going to wait for her to die until you believe me?’”
At one, Florence was smaller and less cognitively developed than her peers. And in January 2020, Pheobe and Joe, 31 – who manages a tech firm – moved back to Coventry, West Mids, to seek better support.
Over the next 22 months Florence was referred to a dysphagia specialist, dietitian and speech and language therapist and had tests for genetic syndromes. Then came the devastating results that confirmed she was one of just 50 UK children with CLN2 Batten Disease.
Pheobe says: “Joe and I just crumbled into our sofa. It is something no parent should have to hear.
“I just didn’t know life could be so cruel and didn’t think it could happen to our family.”
The family believe gene therapy may help Florence, but it is only at the research phase in the US.
They have launched the fundraiser in the hope it will become available, and have so far raised £50,000. Any money left over will be donated to the Batten Disease Family Association and other charities.
Florence has an enzyme infusion fortnightly at Great Ormond Street Hospital, London, and will need that for the rest of her life.
The family are also planning to make alterations to their home – to put in a wet room and ramps – as Florence will eventually need a wheelchair and feeding tube.
Pheobe said: “There’s pioneering technology coming out all the time. We want to be able to give Florence the best quality of life we can.”
To donate, visit gofundme.com/f/florys-story