I’m losing my little girl to dementia

A devastated mother has revealed how she is losing her little daughter to infantile dementia. Florence Swaffield was diagnosed with a staggering infection  mere months after strolling down the aisle at her parents’ wedding. The three-year-old has CLN2 Batten’s disease, a highly uncommon disorder. It has no treatment and, sadly, has a life expectancy of six to twelve years.

She is losing her capacity to speak, move, eat, and drink on her own. She has already forgotten nearly all of the words she has learnt. Regardless of this, Florence’s mother describes her as cheeky and amusing, having “the most contagious belly laugh.”

Phoebe, a government worker for the Department for Transport from Coventry, West Midlands, said that their existence has been split into two chapters — pre-diagnosis and post-diagnosis. Flory’s mobility has dramatically diminished since the wedding, and she can’t run like that longer. She lacks the courage to walk on grass since her legs give way up to 100 times every day.

She continued saying that it only goes to demonstrate how swiftly this sickness can spread. We truly want to spread the word about Florence’s condition. Majority have never heard of Batten disease – and would never assume that kids might have a condition like dementia, which is generally associated with the elderly. When it came up on the genetic test, none of the doctors had any idea it existed.

Even after her diagnosis, doctors and general practitioners had to Google it. She felt more doctors knew about it, kids would be diagnosed sooner and have a higher quality of life. They are committed to give Florence the greatest life possible.

Florence’s parents spotted her unable to move and eat after returning to the UK following the wedding in September 2021. When Florence refused to eat or drink and began sleeping for up to 22 hours a day, doctors first rejected Phoebe’s suspicions that anything was wrong.

Phoebe explained that she knew something was awry when Florence returned home and never wanted to eat. They were trying to make the physicians realise that Florence was not like other children her age,however she just felt terribly unheard. She felt something was wrong, but no one would listen. She became so desperate that she pondered bringing Florence to the hospital and abandoning her with a message pleading for assistance.

Florence was eventually diagnosed with the condition in November, which only affects up to 50 individuals in the UK. Phoebe and her husband, Joe, are anxious for gene therapy to improve their daughter’s prognosis, but the treatment is still in the research stages in the United States since clinical trials have yet to be approved by the Food and Drug Administration. Phoebe and Joe are raising donations in the hopes that therapy will become available in the future.

Florence had a rough delivery, and her mother was concerned that something was amiss in the weeks afterwards. She’d make hacking noises, sleep excessively, and refuse to eat. When Phoebe tried to get her to eat, she would projectile puke even after only one hour. Phoebe was repeatedly told that her daughter was well, and medical workers even pushed her to use greater effort to rouse Florence and get her to feed, yet she suspected there was more to it.

Florence was notably smaller and less cognitively developed than her friends when she started nursery school, and when she turned one, her parents opted to return to the UK for better care. Florence’s parents were both verified carriers of the CLN2 Batten disease gene, which was handed down to her after she was diagnosed. However, investigations revealed that she had Ververi-Brady Syndrome, a disorder that causes modest developmental and linguistic delays.

Florence is the only person in the world who has these two mutations happening at the same time. Florence was diagnosed after a series of severe seizures that began in August 2021, during which she would jolt violently and zone out for around 30 seconds. The convulsions, Phoebe was warned, were likely to worsen as the condition progressed.

Florence receives an enzyme injection every two weeks at Great Ormond Street Hospital in London as part of her therapy, which she will continue to do until the end of her life. Florence is not anticipated to live past the age of adolescence, and gene therapy would be the only solution, which is why the family has set up a GoFundMe page to help fund research into the issue.

“We are saving every cent for a potential therapy or for technology,” Phoebe explained, “and whatever is left over will go to the Batten Illness Family Association and other organisations that help families affected by Batten disease.” Florence’s family is also ready to make changes to their house as she continues to lose motor abilities in the coming years. “We’ll need wet rooms, ramps, and everything below,” Phoebe explained. “There’s cutting-edge technology being developed all the time, and we want to be able to provide Florence with the highest possible quality of life.”

Let’s pray a miracle takes place for this family. Hoping the best for them.