‘My daughter will develop dementia-like symptoms as a teenager, so I’m fighting for a cure before it’s too late’

A mother whose daughter has been diagnosed with a rare neurodegenerative condition, causing dementia and Parkinson’s disease symptoms in adolescence, is campaigning for a cure in the hope it could “save” her five-year-old’s life.

Louise van der Valk, 36, a claims director from Essex, said her daughter Scarlett had shown no signs of health or developmental problems before suffering a 30-minute seizure on the day of her first birthday party.

Louise said doctors initially reassured her that febrile seizures – convulsions triggered by a high fever in young children – were common and that Scarlett would likely outgrow them.

However, Scarlett suffered further prolonged complex febrile seizures in April 2022 and October 2022, while also experiencing delays in her speech development.

After genetic testing, she was diagnosed with beta-propeller protein-associated neurodegeneration (BPAN), a condition caused by a WDR45 gene mutation.

This can cause symptoms similar to dementia and Parkinson’s disease such as cognitive decline and losing the ability to walk, talk and swallow.

Despite initially being told Scarlett might never speak, she is now able to run, talk and attend a mainstream school with special educational need support.

Knowing the condition is likely to cause her daughter to lose skills later in life, Louise has channelled her energy into fundraising and campaigning in the hope that a cure can be found during Scarlett’s lifetime.

Louise, who is also a mother to Felicity, three, told PA Real Life: “Learning that even if Scarlett does remain relatively mild in childhood, without treatment the overall outcome doesn’t change, was devastating.

“That was when the grief really hit me – the realisation that one day I would lose my daughter.”

Louise gave birth to Scarlett in February 2021 and said during her first year, she was hitting “all her milestones” and had started crawling.

However, on the day of her first birthday party in February 2022, just an hour before guests were due to arrive, Scarlett suffered her first seizure.

Louise said she called 999 and Scarlett continued to seize for half an hour, which she found “terrifying”.

She explained: “Her eyes glazed over, she started to dribble and she went very still.

“If you click your fingers in front of her face and she’s not reacting, you know she’s about to start shaking.”

Louise said doctors carried out an electroencephalogram (EEG), which confirmed she did not have epilepsy.

She said they also reassured her that febrile seizures are relatively common in children and that Scarlett would likely grow out of them.

In April 2022, Scarlett suffered another prolonged complex febrile seizure while at nursery and was rushed to hospital.

She was given rescue medication to keep at home in case it happened again.

In October 2022, Scarlett suffered another seizure lasting around one hour while being looked after by Louise’s parents. At the time, Louise was 36 weeks pregnant.

Although her parents administered the rescue medication, the seizure did not stop and Scarlett was taken to hospital, where she was given a further dose.

She remained in hospital for several days for observation, and by that point, at 20 months old, she had not started speaking.

Scarlett was then referred for an MRI and full genetic testing, in October 2022, to determine whether there was a more serious cause behind her developmental delay and seizures.

Louise said: “I admit I’ve had a very charmed life, and it just never occurred to me that something bad would happen. I thought we were just ruling things out at this stage.”

Louise gave birth to her daughter, Felicity, in November 2022 and said it was “an incredibly stressful time”.

In January 2023, Louise received the results of Scarlett’s genetic testing over the phone while her husband was at work.

She said: “We were told she had a genetic mutation, but we didn’t know what any of it meant, it was horrendous.

“I just broke down, I had to tell my husband the news and I didn’t have the answers to any of his questions.”

In April 2023, she had an appointment with a genetic counsellor, followed by a consultation in June at Great Ormond Street Hospital.

According to her medical report, seen by PA, doctors confirmed Scarlett’s seizures were caused by a WDR45 gene mutation.

This is associated with a rare iron-storage disorder called BPAN, which, in early childhood, can cause seizures, developmental delays and intellectual disability.

The condition is progressive and, over time – typically during late adolescence or adulthood – affected individuals can develop movement disorders, problems with muscle tone and a loss of cognitive skills.

According to Action Medical Research, children with the condition may eventually develop symptoms associated with dementia and Parkinson’s disease, such as losing their ability to swallow, walk, talk, and they become more susceptible to infection.

“My first feeling was complete shock and disbelief,” Louise said.

“It honestly felt like a nightmare I couldn’t wake up from.

“At the time, Scarlett wasn’t running or talking, so life for us was very uncertain. Experts initially told us it was unlikely she’d become verbal.”

Within a year of her diagnosis, Scarlett had begun receiving support from specialists and her speech was progressing.

Louise said doctors believe Scarlett may be at the milder end of the BPAN spectrum, as she is now able to run and talk, whereas some children with the condition are non-verbal and immobile.

She attends annual reviews at Great Ormond Street Hospital to monitor her condition – Louise said this “forces” her to “talk about the serious stuff” and she often needs a “few days to emotionally recover”.

There is currently no cure for BPAN, although Louise said doctors can help manage some symptoms through physiotherapy, medication and surgery to address movement difficulties.

Louise said: “It’s heart breaking to know she’s going to regress but if they find a cure, she could potentially live a happy, long and normal life.

“When she was diagnosed, doctors told me it would get easier and that we’d just get on with everyday life, but I couldn’t imagine it.

“But fast forward to where we are now, and it does.”

Day-to-day, Louise said Scarlett loves Disney princesses, is always singing and shares a very “special bond” with her younger sister.

Louise said: “My husband’s way of coping is making happy memories and I bring him back down to earth, and sometimes he pulls me back up.

“I really struggle with the fact that everything is out of our control.”

Louise has also found that focusing on finding a cure has helped preserve her “sanity”.

When Scarlett was first diagnosed, Louise raised more than £30,000 for Great Ormond Street Hospital Charity to support BPAN research, thanks to donations from colleagues and loved ones.

In 2024, the funding helped support a research grant at Great Ormond Street and University College London aimed at finding a cure for BPAN, as well as a family day for those affected by the condition.

Louise and fellow campaigners from Action for BPAN, where she serves as a parent ambassador, are now hoping to raise £2.3 million to help the gene therapy research progress to the next stage of clinical trials, and secure government support.

She climbed Snowdon with her colleagues in June 2026 to help raise funds and is involved in planning further fundraising events throughout the year.

Louise said: “We’re doing it for our children. They could find a cure within their lifetime.

“In global terms, £2.3 million really isn’t a lot of money, and what a legacy for people to get behind.

“We could save Scarlett’s life and the lives of other children, and people can be part of that journey.”

To donate to Louise’s fundraiser, visit: www.gofundme.com/f/scarletts-bpan-battle.

For more information, visit: www.actionforbpan.co.uk.