Million Dollar Bike Ride-STXBP1 Encephalopathy Fund
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Fundraising goal $30,000.00
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Lulu's Crew (Lucy's Mom's Page)

STXBP1 encephalopathy.
Our daughter Lucy (aka Lulu, Lucy Lu, LuluBelle) was born in May 2018, and shortly after was diagnosed with a rather severe neurological disease called STXBP1 encephalopathy. This is a rare, genetic, neuro-developmental disease that results in severe intellectual disability and an unpredictable combination of seizures, motor and behavioral impairments. Needless to say, it's a life-changer for the kids and families affected - check out the family foundation to learn more
There are no cures, but we're working to change that.
A chance to make a difference.
Since the disease was only described in 2008, there has been minimal research into developing new cures. Ben has started working on the disease in his lab at Penn and with collaborators at the Children's Hospital of Philadelphia (CHOP), where Lucy and other kids with STXBP1 are treated. He and Lucy's genetic counselor have also begun to motivate work in parallel at top neurodevelopment labs throughout the U.S. and Europe. There are several therapeutic strategies that could work, but these require time and money to test!
Biking for Lulu.
To raise money for research, I will bike 34 miles during the Million Dollar Bike Ride on June 13th. When you donate to this cause, you will know exactly where your money is going - to the top labs around the world working directly on developing a cure for Lucy's condition. Every dollar goes directly to research, and Ben will work with the Orphan Disease Center to help make sure the money ends up in the hands of expert scientists and clinicians who have the best chance at developing a cure to help kids NOW, in Lucy's generation. They have already made real progress towards developing a new therapy and you can help us and others in our fight to cure this disease.
Fun facts (or serious ones)
  • It's estimated that between 1 in 50,000 to 90,000 kids have STXBP1 encephalopathy
  • The STXBP1 foundation is right here in Philly!
  • More than 20 children with STXBP1 are treated at CHOP
  • Team members will bike 13, 34, or 72 miles
  • 100% of your donation is tax-deductible and goes right to research
  • Total team goal is $150,000
  • If we raise 30K, Penn will match it!
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Post fundraising progress | Anne Marie Del Rossi, Director, Data Services | 215.898.3062
2929 Walnut Street, Suite 300 Philadelphia, PA 19104 | Superuser