A heartbroken mother has shared the story of losing her little girl to childhood dementia.
Florence Swaffield was diagnosed with the devastating disease just months after walking down the aisle at her parents’ wedding.
The three-year-old is now living with Batten’s disease CLN2, a very rare condition.
It has no cure and tragically gives a life expectancy of between six and 12 years.
She loses the ability to speak, walk, eat or drink on her own – she has already lost almost all the words she has learned.
Despite this, her mother says Florence is sassy and funny with “the most contagious belly laugh.”
Phoebe, a government official at the Department for Transport from Coventry, West Midlands, said: “Our world has been divided into two chapters – pre-diagnosis and post-diagnosis.
“Since the wedding, Flory’s mobility has greatly decreased, she can no longer walk like that.
“She doesn’t have the confidence to walk on grass as her legs give out up to 100 times a day.
“It shows how quickly this disease can progress.
“We really want to raise awareness about Florence disease.
“Most people have never heard of Batten disease – and wouldn’t believe it Children could develop a condition such as dementia since it is mostly associated with older people.
“None of the doctors even knew it existed when it came back on genetic testing.
“Even after their diagnosis, paediatricians and general practitioners had to google it.
“If more doctors were aware of this, children would be diagnosed earlier and they would have a better quality of life.
“We are determined to give Florence the best possible life.”
After returning to the UK from the September 2021 wedding, the parents noticed Florence was having difficulty walking and eating.
Doctors initially dismissed Phoebe’s concerns that something was wrong as Florence refused to eat, drink and sleep up to 22 hours a day.
INSTINCT OF THE MOTHER
Phoebe said: “I realized something was wrong when Florence came home and never wanted to eat anything.
“Unlike other babies, she also slept through the night, which really worried me.”
Phoebe added: “We tried to get the doctors to understand that Florence wasn’t like other kids her age, but I just felt really unheard and out of control.
“I knew something was wrong, but nobody wanted to listen.
“I was so distraught that I even considered taking Florence to the hospital and leaving her alone with a note asking someone for help.”
But finally, Florence was finally diagnosed in November the diseasewhich only affects up to 50 people in the UK.
Phoebe and Joe desperately hope that gene therapy will become available to improve their daughter’s prognosis, but the treatment is still in the research stage in the United States, pending approval of clinical trials by the Food and Drug Administration (FDA).
Hoping that a treatment will eventually become available, Phoebe and Joe try to raise funds for it.
Florence had a difficult birth and her mother worried something was wrong in the weeks that followed.
She made hacking noises, slept a lot, and often refused to eat.
If Phoebe managed to encourage her to eat, she would vomit within an hour of feeding.
Phoebe was constantly reassured that her baby was fine and was even encouraged by the hospital staff to use more force to wake Florence and encourage her to eat, but she felt there was more to it than that.
Phoebe said, “You weren’t listening. I tried to force her to eat but she threw up.
“You wouldn’t believe a baby would be thrown like that.
“It was a constant cycle of stress and it felt like just banging my head against the wall.”
By the time she started Kindergarten, Florence was significantly smaller and less cognitively developed than her peers and when she reached one her parents decided to return to the UK for better support.
After the diagnosis, Florence’s parents were both confirmed carriers of the Batten disease CLN2 gene, which was passed on to Florence.
I just didn’t know life could be so cruel and I never thought it could happen to our family.
However, tests also revealed that she had Ververi-Brady syndrome, a condition characterized by mild developmental and language delay.
Florence is the only person in the world who has both of these mutations at the same time.
The diagnoses followed a series of extreme seizures that began in August 2021, during which Florence convulsed uncontrollably and logged out for about 30 seconds.
The seizures, Pheobe was told, were likely to get much worse as the illness progressed.
She said: “Joe and I just fell on our sofa. I was hysterical and didn’t know what to say.
“It’s something a parent should never hear, and it wasn’t what we expected.
“I just didn’t know life could be so cruel and I never thought it could happen to our family.”
As part of her treatment, Florence is given an enzyme infusion every two weeks at London’s Great Ormond Street Hospital, which she will need to receive for the rest of her life.
Florence is not expected to live into her teens and gene therapy would be the only cure, so the family have set up a GoFundMe page to support research into the disease.
Pheobe said, “We save every penny on a possible treatment or on technology, what’s left goes to the Batten Disease Family Association and other charities that support families with Batten Disease.”
The family is also preparing to make changes to their home as Florence continues to lose motor skills in the years to come.
Pheobe said, “We need wet rooms, ramps and everything to be downstairs.
“Breakthrough technologies are constantly coming out and we want to offer Florence the best possible quality of life.”
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https://www.thesun.ie/health/8669076/childhood-dementia-little-girl/ I am losing my little girl to dementia