![\"Devastated](\"https:\/\/static.toiimg.com\/thumb\/msid-127783741,imgsize-1002733,width-400,resizemode-4\/devastated-uk-family-watches-5-year-old-dying-from-rare-childhood-dementia-hundreds-of-seizures-daily.jpg\" "\\"Holly")
<\/div>\n<\/div>\n<\/div>\nA 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. <\/p>\n ‘Ghost Cars In Minnesota’: Amy Klobuchar, Tina Smith Storm Senate With Horror ICE Stories<\/p>\n<\/div>\n<\/div>\n 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.\u201cIt wasn\u2019t until the seizures started that we realised something wasn\u2019t quite right,\u201d James<\/a> said.<\/p>\n According to reporting by SWNS<\/a>, 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\u2019s full-time carer, said the moment the diagnosis was confirmed was overwhelming.\u201cYour world just stops,\u201d he said.\u201cYou\u2019re trying to take in what they\u2019re telling you but at the same time, your mind is going a million miles an hour. There are all these emotions running through you.\u201cHaving 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.\u201cThe doctor said yes to both. He explained that ultimately, without treatment, life expectancy is between five and eight years old.\u201d <\/p>\n Before her third birthday Holly developed normally, walking early, speaking well, passing health checks, showing no delays\/ SWNS<\/p>\n<\/div>\n<\/div>\n 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.<\/p>\n Despite the severity of her condition, Holly still attends school five days a week. Some days she manages well; others, she struggles.\u201cSometimes she\u2019ll survive all day and other times we\u2019ll get a phone call saying she\u2019s not coping well,\u201d James said.\u201cSome days her speech and communication is good and others the staff at the school will use picture flashcards.\u201dJames said Holly\u2019s eyesight is now uncertain, and her seizures continue to worsen despite treatment.\u201cHolly can have up to almost 200 seizures a day,\u201d he said.Even so, he describes his daughter as full of character.\u201cHolly is ultimately a really cheeky, happy little girl,\u201d he said.\u201cShe loves Paw Patrol and dinosaurs.\u201cAs 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.\u201dJames and Lauren also have an 18-month-old daughter, Poppy.<\/p>\n 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 \u201cThe Holly\u201d and \u201cHolly the Dinosaur Princess\u201d at both Colchester Hospital and GOSH. <\/p>\n Holly Nayler and her father James. (Pix via James Nayler \/ SWNS)<\/p>\n<\/div>\n<\/div>\n 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.\u201cHolly would\u2019ve lost her ability to walk. She would probably have lost most of her sight by now,\u201d he said.\u201cShe wouldn\u2019t have the quality of life she has now.\u201d<\/p>\n In August 2024, NICE issued draft guidance stating it would not recommend Brineura once the initial access agreement ends, citing its cost, more than \u00a3500,000 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.\u201cThese children deserve a life and they deserve a life which keeps as many of their skills and functions for as long as possible,\u201d James said.\u201cThis drug is the only one in the world that can do that.\u201d<\/p>\nA diagnosis that changed everything <\/h2>\n<\/p>\n
![\"Holly\"](\"https:\/\/static.toiimg.com\/photo\/imgsize-23456,msid-127783929\/holly.jpg\" "\\"Before")
<\/p>\nLiving with seizures and loss of skills <\/h2>\n<\/p>\n
Treatment that buys time, not a cure <\/h2>\n<\/p>\n
![\"Holly](\"https:\/\/static.toiimg.com\/photo\/imgsize-23456,msid-127783955\/holly-nayler-and-her-father-james-pix-via-james-nayler-swns.jpg\" "\\"Holly")
<\/p>\nUncertainty over the drug\u2019s future <\/h2>\n<\/p>\n
Childhood dementia in the UK <\/h2>\n<\/p>\n