In September, I’m taking on the London to Brighton 90km cycle to raise money for Action for BPAN. Having met families affected by BPAN, as well as the incredible team behind Action for BPAN, BPAN Matters and BPAN Heroes, this condition has become incredibly important to me. Seeing their determination to fight for better treatments despite the challenges they face every day has been truly inspiring.

BPAN is a rare, progressive neurodegenerative disorder, caused by an abnormal accumulation of iron in the brain, leading to life-limiting symptoms in children, and immensely impacting families.

BPAN is especially difficult as there are 2 stages. The childhood phase and the adulthood phase, but as families have described it, 2 phases of grief. Getting a diagnosis like BPAN, you grieve the loss of the life your child could have had, but the second stage of grief comes when a child deteriorates; a child can appear stable for several years then suddenly deteriorate neurologically.

A child may first present with global developmental delay, epilepsy and seizures, severe language barriers, stiffness, ataxia (an unsteady walk). A child can be stable through this phase then suddenly deteriorate, experiencing dementia, a loss of basic skills, dysphasia (difficulty swallowing), Parkinsonism and dystonia (involuntary contractions of muscles causing them to twist into painful positions), sleeping difficulties.

Although there is currently no cure for BPAN, there is real hope. Researchers at Great Ormond Street Hospital (GOSH) and UCL are leading pioneering research that could transform the future for children living with this condition. They are exploring personalised gene therapies designed to target the underlying cause of BPAN, including antisense oligonucleotides and RNA-based treatments, both focused on the WDR45 gene. Researchers are also investigating whether existing medicines, such as cardiac glycosides, could be repurposed as potential treatments.

Every donation helps bring the charity closer to its £2.3 million fundraising target, allowing this vital research to continue and give these children a chance at receiving a cure in the future.