My little girl showed no signs until her eyes glazed over - doctors say it is BPAN

My little girl showed no signs until her eyes glazed over - doctors say it is BPAN Scarlett was diagnosed after an incident on the day of her first birthday party A mother says her little girl was fine until an incident at her first birthday party led to the diagnosis of a rare condition. Louise van der Valk, 36, a claims director from Essex, revealed that her daughter Scarlett had shown absolutely no signs of health or developmental issues before suffering a 30-minute seizure on the very day of her first birthday party. Louise recalled that doctors initially reassured her that febrile seizures – convulsions brought on by a high fever in young children – were fairly common and that Scarlett would most likely grow out of them. However, Scarlett went on to suffer further prolonged complex febrile seizures in April 2022 and October 2022, while also experiencing notable delays in her speech development. Following genetic testing, she was diagnosed with beta-propeller protein-associated neurodegeneration (BPAN), a condition resulting from a WDR45 gene mutation. The condition can produce symptoms akin to dementia and Parkinson's disease, including cognitive decline and the gradual loss of the ability to walk, talk and swallow. Despite initially being warned that Scarlett might never speak, she is now able to run, communicate and attend a mainstream school with special educational needs support. Acutely aware that the condition is likely to rob her daughter of these hard-won abilities later in life, Louise has thrown herself into fundraising and campaigning, desperate for a cure to be discovered within Scarlett's lifetime. Louise, who is also mum to three year old Felicity, said: "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 welcomed Scarlett in February 2021 and said during her first year, she was hitting "all her milestones" and had started crawling. The birthday party that changed Scarlett's life But on the day of her first birthday celebration in February 2022, just an hour before guests were expected to arrive, Scarlett experienced her first seizure. Louise said she dialled 999 and Scarlett continued seizing for half an hour, which she described as "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 medics performed an electroencephalogram (EEG), which ruled out epilepsy. She said they also provided reassurance that febrile seizures are fairly common in youngsters and that Scarlett would probably outgrow them. In April 2022, Scarlett suffered another extended complex febrile seizure while at nursery and was taken to hospital urgently. She was provided with emergency medication to keep at home should it occur again. In October 2022, Scarlett experienced another seizure lasting approximately one hour while in the care of Louise's parents. At that stage, Louise was 36 weeks pregnant. Despite her parents administering the rescue medication, the seizure continued and Scarlett was rushed to hospital, where she received an additional dose. She stayed in hospital for several days under observation, and at that stage, aged 20 months, she hadn't begun to speak. Scarlett was subsequently referred for an MRI and comprehensive genetic testing in October 2022, to establish whether there was a more severe underlying cause for 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 welcomed her daughter, Felicity, in November 2022 and described it as "an incredibly stressful time". In January 2023, Louise was given the results of Scarlett's genetic testing over the telephone 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." The BPAN diagnosis In April 2023, she attended an appointment with a genetic counsellor, followed by a consultation in June at Great Ormond Street Hospital. Scarlett's medical report, seen by PA, confirmed that her seizures were the result of a WDR45 gene mutation. This is linked to a rare iron-storage disorder known as BPAN, which during early childhood can trigger seizures, developmental delays and intellectual disability. The condition is progressive and, as time goes on – typically during late adolescence or adulthood – those affected can go on to develop movement disorders, difficulties with muscle tone and a decline in cognitive abilities. According to Action Medical Research, children living with the condition may ultimately 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 receiving her diagnosis, Scarlett had started getting support from specialists and her speech began to improve. Louise revealed that doctors believe Scarlett may be at the milder end of the BPAN spectrum, as she is now able to run and talk, while some children living with the condition are non-verbal and immobile. Scarlett attends yearly check-ups at Great Ormond Street Hospital to keep tabs on her condition – Louise said these appointments "forces" her to "talk about the serious stuff", often leaving her needing a "few days to emotionally recover". There is currently no cure for BPAN, though Louise explained that doctors are able to help manage certain 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." On a day-to-day basis, Louise said Scarlett adores Disney princesses, is constantly 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 channelling her energy into the search for a cure has helped protect 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 generous 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