Hi, I’m Louise - Scarlett’s mum. Scarlett has BPAN - an ultra rare, progressive and life-limiting neurological condition with no cure. I’m fundraising to help push promising gene therapy research forward at GOSH and UCL.

Scarlett's Story

Shortly before her first birthday, Scarlett had her first prolonged complex febrile seizure. We were reassured it was “just” febrile, and life carried on - but with that constant fear in the background and Calpol always within reach.

Then in October 2022, Scarlett had her third and most serious seizure. It lasted an hour. That was the moment everything changed. Scarlett was referred for an MRI and full genome genetic testing.

In January 2023, we got the news that shattered our world: Scarlett has a mutated WDR45 gene and a diagnosis of BPAN (a form of NBIA). BPAN can cause seizures, developmental delays and intellectual disability in childhood - but it is also progressive, and in adolescence or early adulthood, she will deteriorate with symptoms similar to Parkinson’s disease and dementia.

The cruel truth is we can’t predict how Scarlett’s BPAN will unfold and when she will start to experience cognitive decline of her skills. Skills she has fought extra hard to gain. What we do know is this: Scarlett deserves every chance, and every ounce of hope.

Why we’re fundraising

Ground‑breaking gene therapy research at Great Ormond Street Hospital (GOSH) and UCL is underway, offering real hope for children like Scarlett. But progress is entirely dependent on funding which is hard for a small community like ours - with BPAN affecting fewer than estimated 50 families in the UK.

Where the funds go

This GoFundMe supports Action for BPAN, the UK charity funding research into a treatment/cure and supporting affected families. The overall target is £2.3 million to move the gene therapy programme to its next critical stage.

Over the next 12 months, I’ll be fundraising in lots of ways - alongside friends and colleagues - and sharing Scarlett’s story through TikTok @rarelikescarlett to reach beyond our immediate circles.

If you can donate (even a little) or share this page, you are helping us push this research forward - and helping families like ours hold onto hope.

Thank you, from the bottom of my heart.

Louise (Scarlett’s mum)

Join us in our mission to fund vital research and raise awareness about BPAN. UK Charity number 1210529 Gift Aid Number ZD35568