A couple whose four-year-old daughter's future is being cruelly snatched by childhood dementia have spoken bravely of their hopes that a new trial drug will buy her time, after being told she may not live to see her teens.
Describing the Batten Disease blighting Violet's life as “the worst form of torture," her parents Michelle and Peter Jones told how the incurable illness, diagnosed in January after she suffered seizures, balance problems and slurred speech, affects the nervous system and could kill her by the age of 12.
Told by doctors she will eventually be unable to speak, swallow, see or hear, the couple and their older daughter, Millie, 13, are now pinning all their hopes on enzyme replacement treatment, which can slow the disease's progression, after Violet was given NHS funding for four years.
Bank worker, Michelle, 35, of Crosby, Merseyside, said:
“It doesn't feel real. This is the kind of thing that happens to other people. It's heartbreaking."
“Violet is not the same child she was when we were on holiday in August last year. She's still happy, but she's not running around and playing with other kids now. She just stands on the side watching."
“She's already forgetting things, like how to hold a pen and how to climb the stairs, or climb on to the toilet, and she falls over a lot. She will be watching television and will fall backwards."
“She hasn't lost any of her vocabulary yet, but she struggles to get the words out."
“It's such a horrendous diagnosis. It's childhood dementia and it takes everything from them. Eventually she won't be able to swallow, see or hear, and she will have to use a wheelchair. She's already struggling with her walking and loses her balance."
“We do not know what she'll be like as she gets older, or if this trial will help halt it. Going forwards, we do not know what kind of life she's going to have, but there is hope because of this treatment."
When we came back home, we noticed her speech started to change. She could not get her words out and she slurred.
Michelle Jones
After a healthy pregnancy, Violet was born on July 25, 2015 weighing 7lb 9oz, and was hitting all her milestones, until she started having seizures at three-and-a-half – having her first when she was with plumber Peter, 35.
Michelle recalled:
“She was with her dad, asleep in his van when she vomited and started to have a seizure. He thought she might have been choking. We took her to the hospital and were told she was fine."
“But then a week later, she had another seizure. It was the same. She was asleep, then vomited and her eyes started to roll to the side. It was horrendous."
Violet was sent for tests at Liverpool's Alder Hey Children's Hospital, including an electroencephalogram (EEG), which measures the electrical activity in the brain, and was diagnosed with epilepsy in April 2019.
She was put on medication to help control the seizures, but because they were not classed as “typical", in July she was sent for an MRI test.
And on a family holiday to Turkey in August, before her results came through, her family noticed Violet was unsteady on her feet.
“She looked like she was losing her balance, but we thought she was just being a typical toddler and being a bit silly."
“But when we came back home, we noticed her speech started to change. She could not get her words out and she slurred."
“Then, in September, the results of the MRI came back showing some abnormalities, but doctors weren't sure what they related to, so we were referred to a neurologist for further tests."
She could not take two steps without falling down.
Michelle Jones
Returning a number of times for further blood tests, still without a diagnosis, the wait was agonising. Then, at Christmas 2019, Violet picked up a virus.
“She could not take two steps without falling down."
“We took her to A&E and begged them to do something. We knew something wasn't right, but they said there was nothing they could do to treat her- we needed to make an appointment with the neurologist."
And a few weeks later, in January this year, Violet was finally diagnosed with Batten Disease.
“I'd spent hours looking on the internet, so I'd heard of Batten and knew straight away how bad it was."
“There was no hiding from it. We knew the worst-case scenario, which was confirmed when doctors told us it was unlikely she would live past 12."
“It's not even a quick death, it's slow. It's the worst form of torture, dying slowly. It's so hard to even contemplate it. Our world just came crashing down."
“She's a gorgeous little girl and I'm so devastated this has happened to us. I keep thinking, 'Why us? How can this happen to a child?'"
Told the NHS had funding for the next four to five years for a special enzyme treatment, which could slow the progress of Batten, the family at last had some hope.
She was one of the quickest children in the country to be accepted on to the treatment programme. We were lucky, as I know some parents had to wait a long time.
Michelle Jones
Usually starting in childhood, according to the NHS, Batten Disease – which an estimated 25 to 40 children in England are living with – is an incurable illness which upsets the nervous system, causing seizures, visual impairment, mobility loss and early death.
Luckily, Violet, who was referred to London's Great Ormond Street Hospital (GOSH) in January, was accepted for the enzyme replacement treatment – cerliponase alfa – used to slow the loss of motor function in children with Batten Disease, and was only approved for use by the NHS in September 2019.
Michelle said:
“She was one of the quickest children in the country to be accepted on to the treatment programme. We were lucky, as I know some parents had to wait a long time."
“She has to have surgery to have a shunt fitted, so the medication can go straight to her brain. Then she'll return to GOSH every other week for the foreseeable future to have the treatment."
“There's no cure for Batten, but this is a breakthrough treatment that will slow the onset and extend life expectancy."
“But there are still a lot of unknowns. It's such a new treatment that it's too early to say what the long-term outcome will be."
It's not ideal, but it's still given us hope, and what is the alternative?
Michelle Jones
“The funding is secured for four years, but we don't know what will happen after that."
“It's not ideal, but it's still given us hope, and what is the alternative?"
For now, Violet remains at primary school, in reception, where she has an assistant.
Michelle said:
“She can still learn, although she struggles to get her words out, so we're trying to keep everything as normal as possible."
“Sometimes she will get tired and I will have to pick her up early. She's also behind the other children, but she is still sociable."
“She gives all the teachers a hug in the morning. She's so happy. She never moans or has tantrums, she just gets on with it. She loves swimming and playing."
We have picture flashcards to help her remember what things are as well.
Michelle Jones
“She is oblivious, thankfully. I don't know if that's part of the diagnosis, as it is a form of dementia, but she does not understand what is going on."
“We have noticed things like her not going on the slide in the park, but we don't know if that's her being cautious or whether it's the disease and she can't remember how to use it, so we have to help her."
“We have picture flashcards to help her remember what things are as well. We'll show her certain pictures, like a ball, and then ask her to identify it."
Violet's illness is also devastating for her sister.
Michelle said:
“Millie has such a lovely relationship with her. She will help Violet by asking her to identify colours or with the flashcards."
Now keen to make memories, so they make the most of their precious time together, the family recently cancelled a trip to Disneyland Florida, because of Violet's treatment, although they hope to reschedule, as she loves Mickey Mouse.
I want to raise awareness of the symptoms, so that other parents know what to look out for and can get an early diagnosis.
Michelle Jones
Extremely grateful that Violet was accepted so swiftly for the new treatment, Michelle added:
“I'm a private person and we've kept this to ourselves for months, but I'm speaking out now because it's not just about my daughter being affected, there are other children, too."
“I want to raise awareness of the symptoms, so that other parents know what to look out for and can get an early diagnosis."
Violet's auntie Ashleigh Curran set up a GoFundMe page, which has raised more than £14,000 to help the family cover costs, as they go to and from London for her treatment every other week.
“The support we've had has been amazing and we can't thank people enough."
To donate to the family's GoFundMe, click here
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