The four-year-old who dies slowly from child dementia: the girl’s parents reveal that she will not be older than 12
A four-year-old girl is dying of childhood dementia while her parents are told with a broken heart that she will not live beyond the age of 12.
Violet Jones, from Crosby, Merseyside, is one of about 40 children in England with the rare Batten disease, which causes dementia symptoms.
She was diagnosed in January after her parents, Michelle and Peter Jones, noticed that she was standing wobbly and struggling to speak well.
She had been suffering from seizures for months, a symptom of neurological disease, but doctors reportedly reassured them that nothing was wrong before they correctly diagnosed epilepsy.
Describing Batten’s disease that devastated Violet’s life as “the worst form of torture,” Mr. and Mrs. Jones were told that patients with the incurable disease do not live in their teenage years.
Violet eventually loses the ability to speak, swallow, see, hear and breathe. One day she will become wheelchair-bound and completely dependent.
Violet has gone downhill quickly in recent months and has forgotten how to play with other children or go to the toilet. For now she recognizes her family.
They are already hoping for a new treatment on the NHS that can slow the progression of the disease. It can extend the life span of people with Batten’s disease.
Violet Jones, four, from Crosby, Merseyside, is one of about 40 children in the UK with the rare Batten disease who causes symptoms of dementia
Parents Michelle and Peter Jones talked about their grief while she saw Violet slowly die from the disease. They are depicted with their other daughter, Millie, 13
Speaking of the day Violet was diagnosed, Mrs. Jones (35) said: ‘I had searched the internet for hours, so I heard about Batten and immediately knew how bad it was.
“There was nothing to hide from it. We knew the worst-case scenario, which was confirmed when doctors told us it was unlikely that she would be older than 12.
“It’s not even a quick death, it’s slow. It is the worst form of torture that is slowly dying. It’s so hard to even think about it. Our world just crashed.
“It doesn’t feel real. This is something that happens to other people. It is heartbreaking. ”
After a healthy pregnancy, Violet was born on July 25, 2015, weighing 7lb 9oz, and reached all of her milestones.
But when she was three years old, she suffered epileptic seizures. The first was when she was a plumber with Mr. Jones, 35.
Mrs. Jones said, “She was asleep with her father in his van when she vomited and had an attack. He thought she might suffocate. We took her to the hospital and were told that she was fine.
“But then, a week later, she had another attack. It was the same. She slept and then vomited and her eyes began to roll aside. It was horrible. “
Violet was sent for tests at Liverpool’s Alder Hey Children’s Hospital, including an electroencephalogram (EEG), which measures brain electrical activity, and was diagnosed with epilepsy in April 2019.
She received medication to help control the attacks, but because they were not classified as “typical,” she was sent for an MRI test in July.
On a family vacation to Turkey in August, before her results were announced, her family noticed that Violet was not stable.
Violet eventually loses the ability to speak, swallow, see or hear, and one day becomes wheelchair bound and completely dependent
During a family vacation to Turkey in August, Violet’s family noticed that she was not stable and her speech was clouded. They are depicted together when Violet was a baby
Mrs. Jones said: “She looked like she was losing her balance, but we thought she was just a typical toddler and a little stupid.
“But when we got home, we noticed that her speech was changing. She couldn’t get her words out and she laughed.
WHAT IS BATTEN DISEASE?
Batten disease is a rare genetic hereditary disease, caused by waste accumulation in the cells that causes neurodegnerative effects, including:
- Epileptic attacks
- Personality changes
- Loss of motor skills and the ability to walk, talk and communicate
Because it is a rare disease, it is often difficult to diagnose and not tested at birth.
There are 14,000 children worldwide who are diagnosed with the condition.
The Batten Disease Family Association estimates that around 17 people are diagnosed with a form of the disease every year.
There are between 100-150 affected individuals currently living with Batten’s disease in the UK.
There is currently no known cure or treatment for Batten’s disease.
“Then, in September, the results of the MRI came back with some abnormalities, but doctors didn’t know what they were referring to, so we were referred to a neurologist for further testing.”
Coming back a few times for further blood tests, still without diagnosis, the wait was painful.
Then, at Christmas 2019, Violet picked up a virus.
“She couldn’t take two steps without falling,” said Mrs. Jones, a bank employee.
“We took her to A&E and begged them to do something. We knew something was wrong, but they said there was nothing they could do to treat her – we had to make an appointment with the neurologist. “
A few weeks later, in January of this year, Violet’s disease was finally diagnosed.
Mrs. Jones said: “It’s such a terrible diagnosis. It is child dementia and it takes everything away from them.
“She’s a beautiful little girl and I’m so devastated that this happened to us. I keep thinking, “Why us? How can this happen to a child?”
The collective Batten disease affects an estimated one in 100,000 people worldwide.
The slatted disease usually starts in childhood, with an estimated 25 to 40 children living in England according to the condition, according to the NHS. Most will not live by their teens.
After a healthy pregnancy, Violet was born on July 25, 2015, weighing 7lb 9oz, and reached all of her milestones, until she started getting attacks at three and a half
Mrs. Jones said, “We’ve noticed that things like her don’t go on the slide in the park, but we don’t know if she’s careful or if it’s the disease and she can’t remember how”
The disease disrupts the nervous system and causes epileptic seizures, visual impairments, loss of mobility and early death.
Violet has quickly deteriorated over the past five months.
Mrs. Jones said, “Violet is not the same child she was when we were on vacation last year in August. She is still happy, but she is not running around now and playing with other children. She’s just standing aside.
‘She already forgets things like holding a pen and climbing the stairs or climbing to the toilet, and she falls over a lot. She will watch television and fall back.
“She hasn’t lost any of her vocabulary yet, but she’s struggling to spread the words.
‘Eventually she will not be able to swallow, see or hear, and will have to use a wheelchair. She is already struggling with her walk and loses her balance. “
Violet, who was referred to the Great Ormond Street Hospital (GOSH) in London in January, was accepted for new treatment.
The enzyme replacement treatment – cerliponase alfa – slows the loss of motor function in children with Batten disease and was only approved for use by the NHS in September 2019.
Families tirelessly campaigned for the NHS watchdog NICE to fund the drug marketed as Brineura after it had been rejected more than once. The parents of a boy started legal action after the first decision of NICE.
Studies have shown that Brineura can slow the progression of the disease and possibly prolong life.
Violet was thought to receive new treatment on the NHS that could slow the progression of the disease. It can extend the life span of people with Batten’s disease
Mrs. Jones said about Violet, pictured when she was born with Millie: “Fortunately, she is unaware. I don’t know if that is part of the diagnosis, because it is a form of dementia ‘
Mrs. Jones said: “She [Violet] was one of the fastest children in the country who was admitted to the treatment program. We were lucky because I know that some parents had to wait a long time.
NHS FINALLY ENDS THE LIFETIME EXTENDING DRUG FOR BATTEN DISEASE
The NHS finally concluded a deal for the life-prolonging medicine that will be given in September 2019 to children who are fighting the Batten disease.
Batten’s disease is slowly depriving children of their ability to walk, talk and breathe.
Health watchdogs earlier this year rejected cerliponase alfa – the only drug available to treat one type of Batten disease because it was too expensive.
But officials have now agreed a “fair price” for the drug, marketed as Brineura, with the manufacturer after almost two years of fierce negotiations and just a few weeks before the affected families would appeal the decision.
The medicines are estimated to cost around £ 500,000 per patient per year, but the discount price offered to the NHS was not disclosed after the U-turn.
Simon Stevens, CEO of NHS England, today warned pharmaceutical companies that health care “won’t just write blank checks at the expense of the taxpayer.”
Brineura is offered as part of a managed access agreement (MAA) for the next four and a half years. In the meantime, evidence of its effectiveness will be collected.
It is administered directly into the brain via a surgical implant.
The drug – a form of enzyme therapy – is already available in 20 other countries, including Wales, where healthcare is distributed, and the Netherlands.
There is currently no cure for the CLN2 form of the condition.
Without treatment, life expectancy varies from six to 13 years.
‘She has to undergo surgery to have a shunt placed so that the medication can go straight to her brain. Then she returns to GOSH every other week for the near future to undergo treatment.
“There is no cure for Batten, but this is a breakthrough treatment that delays the onset and extends life expectancy.
“But there are still many unknowns. It is such a new treatment that it is too early to say what the outcome will be in the long term.
“The financing is guaranteed for four years, but we don’t know what will happen next. It is not ideal, but it still gives us hope, and what is the alternative? ”
For the time being, Violet will stay in primary school, at the reception, where she has an assistant.
Mrs. Jones said: “She can still learn, although she has trouble spreading her words, so we try to keep everything as normal as possible.
“Sometimes she gets tired and I have to pick her up early. She is also behind the other children, but she is still social.
‘She gives all teachers a hug in the morning. She’s so happy. She never moans or has tantrums, she just keeps going. She likes swimming and playing.
“Fortunately she is not aware. I do not know if that is part of the diagnosis because it is a form of dementia, but she does not understand what is going on.
“We’ve noticed that things like her don’t go on the slide in the park, but we don’t know if she’s careful or if it’s the disease and she can’t remember how to use it, so we have to help her.
“We have photo flash cards to help her remember whatever it is. We show her certain photos, such as a ball, and then ask her to identify it. “
Violet’s disease is also devastating for her sister, Millie, 13.
Mrs. Jones said: “Millie has such a great relationship with her. She will help Violet by asking her to identify colors or with the flashcards. “
The family wants to get the best out of their precious time together, but recently canceled a trip to Disneyland Florida because of the treatment of Violet. They hope to make a new appointment because Violet loves Mickey Mouse.
Mrs. Jones said: “I am a private person and we have been keeping this to ourselves for months, but I am speaking now because it is not only about the consequences of my daughter, but also about other children.
“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 aunt Ashleigh Curran has set up a GoFundMe page, which has raised more than £ 15,000 to help the family cover the costs as they go to and from London every week for her treatment.
To donate, visit here.