Peter Roy-Smith

It has been just over a year that we have known about Poppy's diagnosis of BPAN. The time has been a rollercoaster, but Poppy is a light in the room! Everyone she meets - friends or strangers - immediately warm up and have a smile as gigantic as hers. We are riding to support Poppy, the BPAN Family and the NBIA groups as a whole! This effort will raise funds to support BPAN research, and the kicker is if our whole Team NBIA can raise enough UPenn will match! Lets work together to help families that have loved ones just like Poppy.

We are taking our ride virtually in Ottawa, ON, Canada and aim for 100km this year.

BPAN - an NBIA disorder

Beta-propeller Protein-Associated Neurodegeneration (BPAN) is caused by mutations in the WDR45 gene on the X chromosome. It is inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene is enough to cause disease in both males and females. Most of those with BPAN are females. BPAN has a wide phenotypic spectrum, meaning that symptom presentation and severity can vary greatly among patients.

Affected individuals are developmentally delayed during childhood with slow motor and cognitive gains. Most children are described as clumsy with an unsteady, staggering gait. Seizures are common, as are sleep disorders. In addition, children with BPAN usually show expressive language delay disproportionate to their other disabilities. Consequently, most individuals with BPAN can only speak a few words. During adolescence or early adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline.

The Penn Medicine Orphan Disease Center hosts this event to raise money for research in rare diseases. Please consider donating to our cause and being a part of transformative research. 100% of your donation, less platform fees, will go towards rare disease research.