Holly Nayler, 5, was just days away from her third birthday when she had her first seizure – and has now set a heart-breaking record of 187 in one day
A young girl enduring nearly 200 seizures daily is fighting against a rare childhood dementia. Holly Nayler, aged 5, was mere days from celebrating her third birthday when her first seizure struck – and has since achieved the devastating milestone of 187 seizures in a single day.
Mum and dad Lauren, 32, and James, 40, from Colchester, Essex, were initially informed by medics that her condition might be an infection, with doctors attempting various medications.
Genetic tests confirmed Holly had CLN2 Battens Disease, a life-limiting degenerative illness that impacts fewer than 50 youngsters across the UK.
The disorder – for which there is currently no cure and carries a life expectancy of six to 12 years – will eventually rob the little girl of her ability to speak, walk, and feed herself.
Father James, who serves as Holly’s full-time carer, explained: “Your world just stops. You’re trying to take in what they’re telling you but at the same time, your mind is going a million miles an hour. There are all these emotions running through you.
“Having never heard of it or knowing anything about it, the immediate questions were is it life limiting, is it life shortening, what kind of impact does this have. The doctor said yes to both. He explained that ultimately, without treatment, life expectancy is between five and eight years old.
“Holly is ultimately a really cheeky, happy little girl. She loves Paw Patrol and dinosaurs. As much as the seizures and disease try to slow her down, if she wants to get somewhere she will drag us by the hand and get us there.”
Globally, fewer than 2,000 children have been diagnosed with this condition, with only 30 to 50 of those cases being in the UK. Holly is expected to lose her sight, speech, and mobility – without treatment, most children become entirely dependent on their caregivers and require a feeding tube by the age of six.
The young dinosaur enthusiast started experiencing seizures just before her third birthday, but prior to that, she showed no symptoms.
Her father, James, shared: “Initially Holly was developing well and she began walking quite early. It wasn’t until the seizures started that we realised something wasn’t quite right.
“She had passed all her health checks and her GP appointments were all normal until she had the genetic testing. They investigated an infection and then epilepsy but the epilepsy nurses were sure it was something more.”
On March 26, 2024, Holly was diagnosed with CLN2 Battens Disease, a form of childhood dementia. Despite her diagnosis, James described Holly as a ‘very active’ five year old who adores trips to the zoo.
The family are uncertain about the strength of her eyesight, and she has a mental age of between 12 to 18 months.
James revealed: “Holly can have up to almost 200 seizures a day but she is in school five days a week. Sometimes she’ll manage all day and other times we’ll get a phone call saying she’s not coping well. Some days her speech and communication is good and others the staff at the school will use picture flashcards.”
The family has opted for this treatment pathway, which whilst not offering a cure, will decelerate and stabilise the deterioration of fundamental abilities whilst adding numerous years to Holly’s life – pushing her life expectancy into her late teens.
The intervention involves brain surgery to insert a port into blood vessels at Great Ormond Street Hospital, where Holly makes fortnightly visits for four-hour infusions delivered directly to her brain.
Despite enduring 13-hour round journeys, the bubbly youngster has earned the nicknames ‘The Holly’ and ‘Holly the Dinosaur Princess’ at both Colchester Hospital and GOSH due to her passion for prehistoric beasts and her distinctive roars.
Holly has been receiving these twice-weekly treatments since April 2024.
The interventions are provided through the NHS via an access arrangement between NICE and BioMarin, the pharmaceutical company behind the Brineura enzyme replacement therapy treatment.
Clinical studies of the medication have been prolonged and are continuing for NICE to assess whether Brineura should be endorsed for youngsters carrying the CLN2 gene.
Whilst children such as Holly who commenced treatment during the clinical study are assured they can maintain it, NICE published final draft recommendations in August 2024 stating it would not endorse Brineura for children once the initial arrangement concludes. The drug’s hefty price tag of over £500,000 per child annually and the limited evidence of its long-term effectiveness were cited as concerns.
Following an appeal hearing in November, it was decided that an extension to the initial agreement will continue until June 2026, or until the outcome of the hearing and final NICE guidance are published, whichever comes first.
James expressed: “Holly would’ve lost her ability to walk. She would probably have lost most of her sight by now. She wouldn’t have the quality of life she has now.”
In most children, James noted, the drug has completely halted their seizures, while some experience only one a month. Unfortunately for Holly, her seizures appear to be worsening, with a distressing record of 187 in a single day.
James, who is also father to 18-month-old Poppy, stated: “Each child that has it, although it’s the same disease, they are all very different in how they react to it. The one thing parents all agree is the same is they all smile.”
He acknowledged the emotional toll of connecting with other parents, saying: “As much as [talking to other parents] helps, there’s the downside that we do see other children further along – we see them decline.”
However, he also highlighted the moments of hope, adding: “But at the same time, we also get to see amazing things that children who aren’t walking for 12 months just take a step – just one step.”
James emphasised the temporary nature of the treatment, stating: “Ultimately, because it’s not a cure, it only buys time.”
Despite the cost, James is urging the government to ensure the future availability of the drug. He further stated: “These children deserve a life and they deserve a life which keeps as many of their skills and functions for as long as possible.
“This drug is the only one in the world that can do that. It’s just to get the awareness out there.
“The night before our appointment, I had Googled everything I could possibly think of that may cause all the symptoms she had, and it didn’t come up. We’re just trying to work out what’s happening, what it means for us as a family, what it means for Holly and what her life is going to be look like in a few weeks, months, years.”
The family are rallying funds to assist with travel expenses to GOSH, toys and comforting treats to keep Holly cheerful and her parents alert.
It can be found here: https://www.gofundme.com/f/holly-the-dinosaur-princess.
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