Holly has a rare, fatal childhood dementia causing seizures, loss of movement, speech, sight, and independence./ Image: SWNS
A five-year-old girl from Essex is living with a rare and fatal form of childhood dementia that will gradually strip away her ability to walk, talk, see and eat independently. Holly Nayler has CLN2 Batten disease, a degenerative neurological condition affecting fewer than 50 children in the UK and fewer than 2,000 worldwide.Holly now has a mental age of between 12 and 18 months and can experience up to almost 200 seizures a day. On one occasion, she suffered a record 187 seizures within 24 hours.
Her parents, James Nayler, 40, and Lauren Nayler, 32, from Colchester, Essex, say there were no warning signs in her early development. Holly walked early, passed all her health checks and showed no developmental delays until shortly before her third birthday.“It wasn’t until the seizures started that we realised something wasn’t quite right,” James said.
A diagnosis that changed everything
According to reporting by SWNS, Holly had her first seizure just days before her third birthday. Initially, doctors suspected an infection. When that was ruled out, epilepsy was investigated. It was only after genetic testing that the family received a diagnosis.Holly was formally diagnosed with CLN2 Batten disease on 26 March 2024. James, who is now Holly’s full-time carer, said the moment the diagnosis was confirmed was overwhelming.“Your world just stops,” he said.“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.”
Before her third birthday Holly developed normally, walking early, speaking well, passing health checks, showing no delays/ SWNS
CLN2 Batten disease is a type of childhood dementia caused by a genetic mutation that prevents the body from producing an essential enzyme. Without it, toxic waste builds up in brain cells, leading to rapid neurological decline. Most untreated children lose mobility, speech and vision, and require feeding tubes by around six years old. Life expectancy is typically between six and 12 years.
Living with seizures and loss of skills
Despite the severity of her condition, Holly still attends school five days a week. Some days she manages well; others, she struggles.“Sometimes she’ll survive all day and other times we’ll get a phone call saying she’s not coping well,” James said.“Some days her speech and communication is good and others the staff at the school will use picture flashcards.”James said Holly’s eyesight is now uncertain, and her seizures continue to worsen despite treatment.“Holly can have up to almost 200 seizures a day,” he said.Even so, he describes his daughter as full of character.“Holly is ultimately a really cheeky, happy little girl,” he said.“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.”James and Lauren also have an 18-month-old daughter, Poppy.
Treatment that buys time, not a cure
James and Lauren, who also have an 18-month-old daughter, Poppy, chose to pursue a treatment that cannot cure CLN2 Batten disease but can slow the loss of basic skills and extend life expectancy into the late teens.The treatment involves brain surgery to implant a port into blood vessels in the brain. Holly now travels to Great Ormond Street Hospital every two weeks for a four-hour enzyme infusion delivered directly into her brain. The round trip can take up to 13 hours.She has been receiving the treatment since April 2024 and has become affectionately known as “The Holly” and “Holly the Dinosaur Princess” at both Colchester Hospital and GOSH.
Holly Nayler and her father James. (Pix via James Nayler / SWNS)
The drug, Brineura (cerliponase alfa), was developed by BioMarin and is delivered via the NHS under a special access agreement with NICE. Clinical trials have shown it can stabilise or slow the loss of motor function and, for many children, dramatically reduce seizures.James said that for many children on the treatment, seizures stop entirely or reduce to one a month. That has not been the case for Holly.“Holly would’ve lost her ability to walk. She would probably have lost most of her sight by now,” he said.“She wouldn’t have the quality of life she has now.”
Uncertainty over the drug’s future
In August 2024, NICE issued draft guidance stating it would not recommend Brineura once the initial access agreement ends, citing its cost, more than £500,000 per child per year, and limited long-term evidence.After an appeal hearing in November, the agreement was extended until the end of June 2026, or until final guidance is published.Children already receiving the treatment will be allowed to continue, but families fear for future access.“These children deserve a life and they deserve a life which keeps as many of their skills and functions for as long as possible,” James said.“This drug is the only one in the world that can do that.”
Childhood dementia in the UK
Holly’s case comes shortly after the death of the UK’s youngest known dementia patient. Earlier this month, Andre Yarham died aged 24, less than two years after being diagnosed with frontotemporal dementia.According to SWNS, Yarham was diagnosed a month before his 23rd birthday. Doctors told his family his brain showed degeneration comparable to that of a 70-year-old. Fewer than 0.1 per cent of people in the UK are diagnosed with dementia before the age of 65.For the Naylers, awareness is now as important as treatment.“The night before our appointment, I had Googled everything I could possibly think of that may cause all the symptoms she had,” James said.“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 like in a few weeks, months, years.” Go to Source