BPAN is a rare, life-limiting condition that causes progressive neurological decline, seizures, early onset Alzheimer's and movement disorders such as Parkinson's and Dystonia. BPAN is a cruel condition that takes so much away from these children and is heartbreaking for families to go through. Action for BPAN was created by families to help fund the groundbreaking research into treatments and cures, support families, and raise awareness of this devastating disorder.

Isabella’s Story 🩷

As she grew, we began to notice she wasn’t quite reaching all of her milestones. Then, at 15 months old, Isabella had her first major seizure. It was honestly the most scared I had ever been. She was so tiny, and they couldn’t get her to breathe for herself for over two hours. The doctors working frantically to save her looked really worried, it was the first time I thought we were going to loose her.

After that, seizures just plagued her constantly. She would have over 60 small seizures every hour and a half (nearly constant!). Then, every couple of months, another huge seizure would come and try to steal her away from us.

Isabella has endured so much she has probably had around 20 ambulance rides, she’s been airlifted to London, and she has spent over a week and a half of her life in induced comas on life support with machines breathing for her. Complications from the seizures have caused collapsed lungs, brain damage from lack of oxygen, and she’s had to relearn how to walk multiple times. She’s endured the horrible comedowns from drugs like ketamine and fentanyl where there’s nothing I can do to comfort her. But whenever she opens her eyes and sees us again, she so happy to be back, showering us with cuddles and kisses. Even though she’s exhausted and sore, she’s still her social little self, always happy to see us and become best friends with her Drs and nurses by sharing her toys and snacks. It absolutely breaks my heart that, even with such an uncertain future, she can’t just enjoy her childhood.

When we found out she has BPAN, we were absolutely devastated. There was no treatment, no cure, and no hope. Isabella is so brave and so kind, she loves animals, music and dancing. She’s just such a light in our life’s, she wants to wave and meet every person we walk past and is full of cheekiness. She understands most of what I say to her now and uses sign language and a talking tablet to communicate, but BPAN will steal her memories, movement, and life unless we take action.

When she was diagnosed in 2021, there was, no research, and no UK charity fighting for children like her. I knew that was what we needed to affect change so we launched Action for BPAN in January 2025 and have been working non-stop to accelerate treatments and cures for BPAN. From 2021, to now in 2025 — there are drug trials happening that could potentially hold off degeneration, and a gene therapy pre-clinical research at Great Ormond Street, where they are actually curing BPAN in mice and miniature brains. We are just one step away from human clinical trials, which, if successful, could cure BPAN.

All these things are amazing, but they’re not happening on their own. We are fighting tooth and nail to save not just our own children but everyone with BPAN. I can’t believe a disease like this is even real — for a child to suffer Alzheimer’s, Parkinson’s, lose their movement and memories, and experience dystonia so severe that muscles can contract tight enough to break bones it’s too much to imagine.

Isabella is 7 now and will be 8 by the time I do the Inflatable Run at Brands Hatch. As I look at her right now, I’m filled with anxiety because this is a race against time for us. She has to stay strong enough to be eligible for gene therapy, and all we can do to speed it up is raise awareness and funds.

Sorry this has been a bit of an essay, this whole journey has just been a lot it’s hard to put it in to words.

If you can, please share Isabella’s story. I would honestly be so, so grateful if anyone would like to donate. Many people have repeatedly supported us, and I can’t tell you how much that means to me that people do care enough to support us.

This is not a dream or science fiction — gene therapy has been successful and is curing diseases right now, we’re in a really good position to make a big difference in the world by helping to get rid of this horrible disease.

💙🩷