A toddler who was flower girl at her parent's wedding has now lost the ability to walk after being diagnosed with childhood dementia - just months after she toddled down the aisle. Florence Swaffield has been diagnosed with CLN2 Batten's disease - a rare form of childhood dementia - aged just three.
The condition, which currently has no cure and offers a life expectancy of between six and 12 years. It will heartbreakingly see Florence revert to a baby-like state as she loses the ability to communicate, walk and eat or drink independently.
In September 2021, Florence's parents, Pheobe and Joe, tied the knot in Spain. As part of the ceremony, Florence ran down the aisle with her parent’s rings as the couple’s flower girl. However, on returning to the UK, she began to lose the ability to walk and would fall over up to 100 times a day.
Pheobeand Joe are 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, Pheobe and Joe are trying to raise funds for it.
Despite the prognosis, Florence's mum says her little girl is a cheeky, funny character who is 'full of life' and has 'the most infectious belly laugh'. She says she's determined to do 'whatever it takes' to give her 'the best life possible'.
Pheobe, a government worker for the Department for Transport from Coventry, West Midlands, said: "The video of Florence running down the aisle and giving he rings to Joe is just priceless to us. In a way, we are thankful that we were oblivious to Florence's condition as we were able to make such special memories together that we will cherish for the rest of our lives.
"We weren't expecting the news that came just months later. Our world has been split into two chapters - pre diagnosis and post diagnosis.
"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. None of the doctors even knew it existed when it came back on the genetic test.
"Even after her diagnosis, paediatricians and GPs had to Google it. If more doctors were aware of it, children would be diagnosed earlier, and they would have a better quality of life. We're determined to give Florence the best life possible."
Doctors initially dismissed Pheobe’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. 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.
Pheobe 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. Between the ages of nine and 12 months, Florence wasn’t keeping up with the other children her age who were more cognitively able, as she wasn’t clapping or making babbling sounds.
“We were trying to make the doctors understand that Florence was not like other children her age, but I just felt really unheard and out of control. I knew something was wrong but nobody was willing to listen. I got so desperate that I even considered taking Florence to the hospital and leaving her on her own with a note begging someone to help.”
Florence was born in a Spanish hospital in October 2018 while her parents were living abroad in the coastal town of El Masnou - having relocated for work. Mum-of-one Pheobe had been induced a couple of days early as the baby had been engaged for a long period, putting extreme pressure on her pelvis.
During delivery, there were difficulties pushing Florence out which prompted the doctor to use a suction cup to safely remove her. On arrival, the newborn was immediately taken away by doctors as she was not breathing.
Pheobe said: “I was wheeled back to the room without Florence. We spent an hour in the room, sat in silence, tears rolling down our faces, Joe had his head in hands - we had no idea what was going on."
To their relief, Florence was eventually able to breathe. But in the weeks following her birth, Pheobe worried that something was wrong as the tot began making hacking noises, slept for 22 hours a day and refused to eat.
When the youngster managed to encourage her to feed, she would projectile vomit even within an hour of feeding. Pheobe was constantly reassured that her baby was fine and was even encouraged by hospital staff to use more force to wake Florence and to encourage her to eat, but she felt there was more to it.
“They were not listening. I tried to force her to eat but she would vomit. You wouldn’t think a baby would projectile in the way she did. It was a continuous cycle of stress and it felt like I was just banging my head against the wall.”
On several occasions, Florence was even hospitalised due to dehydration after she refused to eat. It caused Pheobe to have a ‘mental breakdown’ on the floor of the hospital when they dismissed her concerns.
She said: “I knew she couldn’t swallow properly. It was like she was trying to but couldn’t, but they were not listening.
"It was a continuous cycle of stress and I was the only person that 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?’"
While starting nursery, Florence was noticeably smaller and less cognitively developed than her peers. When she reached one, her parents decided to move back to the UK to get better support. Her mum said: “I felt helpless and out of control, and I needed to get home.”
In January 2020 the family arrived back in the UK and were referred to a dysphagia specialist, dietitian and speech and language therapist. A series of studies and tests were carried out to discover the cause of Florence’s symptoms.
The process was extremely frustrating for the family, but Pheobe admits it all turned around when they were allocated a special educational needs and disability key worker, Jill Lenoard, who first suggested Florence be tested for genetic syndrome. As a result, the tests finally came back in November 2021 confirming Florence was suffering with CLN2 Batten disease and Ververi-Brady Syndrome, 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 the tot. Florence is the only person in the world with these two mutations occurring simultaneously.
The diagnoses followed a series of extreme seizures which started in August 2021 where Florence would jerk uncontrollably and zone out for approximately 30 seconds. The seizures, Pheobe was told, were expected to get a lot worse over the course of the disease.
She said: “Joe and I just crumbled into our sofa. I was hysterical and didn’t know what to say. It is something that a parent should never have to hear, and it was not what we were expecting. I just didn’t know life could be so cruel, and I didn’t think it could happen to our family.”
As part of her treatment, Florence 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.
Pheobe 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 is also preparing to make alterations to their home as Florence continues to lose motor skills in the years ahead. Pheobe 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, visit Florence’s GoFundMe page: https://www.gofundme.com/f/florys-story
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