Lulu's Crew / STXBP1 Encephalopathy
The STXBP1 gene is located on chromosome 9q34.1 and was discovered in 2008 in studies of some patients with Ohtahara Syndrome, a severe early onset epilepsy. Since this initial discovery, our understanding of STXBP1 disorder has expanded, revealing a range of patient symptoms. Children may display some of these symptoms in varying severities: Epilepsy, Global Delay, Cognitive impairment (mild to profound), Autism, Movement Disorders, and Cerebral Palsy. STXBP1 changes impair the vesicular release of neurotransmitter along the synapses. Changes are typically new in families and a single copy of a damaged gene is enough to cause the disorder. STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders.
Lulu's Crew is biking for Lucy Prosser (aka "Lulu"). Lucy was born in May 2018 and on day 3 of her life presented with seizures. On and off of a number of anti-epileptic drugs for the first 8 months of life, nothing seemed to work. Her seizures evolved into infantile spasms and a genetic panel was done. It came back that she was diagnosed with STXBP1 encephalopathy which results in global delays (both gross and fine motor skills), seizures, and severe to profound intellectual disability. Today, Lucy has her seizures under control for over a year on the ketogenic diet and has weened off of all of her epileptic drugs. The diet alone is keeping her seizure free which is amazing. She is monitored closely at CHOP and receives a number of early intervention services including PT, OT, Speech and special instruction. She is working to independently sit, stand, crawl and hopefully one day walk and talk. We work on feeding herself and drinking from a sippy cup as well as social skills like waving, clapping and playing with toys independently. Her toothy smile will make you fall in love with her. She loves her family especially her big brother Sam, giving raspberries, chewing on all of her toys, playing peak-a-boo, and giving high-5's. She has an amazing team around her to get her as strong as possible to be the best Lulu she can be. Lulu's Crew is backing her fight and raising funds for STXBP1 research all over the world.
