Young Girl Faces Daily Battle with Rare Dementia and Seizures

A five-year-old girl named Holly Nayler is courageously facing a rare form of childhood dementia, known as CLN2 Battens Disease, which has resulted in nearly 200 seizures each day. Holly, from Colchester, Essex, experienced her first seizure just before her third birthday. Her condition has rapidly deteriorated, with reports of up to 187 seizures in a single day.

Initially, Holly’s parents, Lauren and James Nayler, were misled by medical professionals who suspected an infection. However, after extensive testing, genetic results confirmed the life-limiting diagnosis on March 26, 2024. This rare disorder affects fewer than 50 children in the UK, with a global total of less than 2,000 diagnosed cases.

Holly’s condition is particularly devastating, as it progressively robs her of essential abilities such as communication, mobility, and even vision. According to her father, James, “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.”

Despite the challenges posed by her illness, Holly maintains a cheerful disposition. She enjoys Paw Patrol and dinosaurs, often dragging her parents along by the hand to explore her interests. However, her father notes the unpredictability of her condition: “Some days her speech and communication is good, and others the staff at school will use picture flashcards.”

Struggling for Treatment and Support

The Nayler family has chosen a treatment pathway that, while not a cure, aims to slow the progression of Holly’s illness and potentially extend her life expectancy into her late teens. This treatment involves brain surgery to insert a port for direct medication delivery to her brain, with Holly receiving bi-weekly infusions at Great Ormond Street Hospital (GOSH). The treatment is provided through the NHS under a special access arrangement with NICE and BioMarin, the pharmaceutical company behind the Brineura enzyme replacement therapy.

Clinical studies regarding this medication are ongoing, with NICE reviewing its long-term effectiveness. While children like Holly who began treatment during the study are guaranteed access, NICE’s latest recommendations, published in August 2024, indicated concerns regarding the drug’s high annual cost of over £500,000 per child and limited evidence supporting its long-term benefits.

James expressed his concerns regarding the drug’s future availability, emphasizing, “These children deserve a life and they deserve a life which keeps as many of their skills and functions for as long as possible.” He believes Holly would have already lost significant abilities without the treatment, stating that “in most children, the drug has completely halted their seizures.”

Community Support and Fundraising Efforts

The Nayler family is actively raising funds to cover travel expenses to GOSH and to provide Holly with toys and comforting treats. They have set up a fundraising campaign to assist with these costs, which can be accessed at https://www.gofundme.com/f/holly-the-dinosaur-princess.

James acknowledges the emotional toll of connecting with other parents facing similar challenges, noting, “As much as [talking to other parents] helps, there’s the downside that we do see other children further along – we see them decline.” Yet, he finds solace in the small victories, such as when children take their first steps after a long period of inactivity.

Despite the difficulties, the Nayler family remains hopeful. They are navigating the uncertainty surrounding Holly’s diagnosis while striving to provide her with the best quality of life possible. James concluded, “Ultimately, because it’s not a cure, it only buys time.”

The Nayler family’s journey highlights the urgent need for awareness and support for children living with CLN2 Battens Disease. Their story serves as a reminder of the resilience of families facing such profound challenges.