Jennifer Burke

I had a blast riding with the team last year and spending the day with a strong group of rare disease advocates, supporters, and friends. This year, sadly, I can't make it to Philly but will ride virtually for my son, Alex, and ALL of his "SCN2A Siblings!" And I will personally match every donation up to $10,000!

Alex is a sweet 23-year-old who was robbed at birth by a random genetic mutation of the ability to enjoy things we take for granted every day. As a toddler he enjoyed walking (although wobbly), eating (messy!), babbling (his own language), laughing, and smiling. A lifetime of seizures caused by a rare variant in his SCN2A gene has left him struggling to communicate, eating only by G-tube, unable to stand, and without his sunny smile or infectious laugh. For the past 11 years he has had seizures nearly every day. We need better treatments. We need a cure.

Not as rare as we once thought, SRDs (SCN2A-related disorders) likely affect approximately 1/10,000 people worldwide but are under-diagnosed because of a lack of genetic testing. Over the past five years, SRDs have been identified as a leading cause of neurodevelopmental disorders. If you know someone with Autism or Epilepsy, you know someone with an SRD.

Common symptoms of SRD include:

Infantile seizures, autism, developmental and intellectual disabilities. Most patients suffer from a myriad of co-morbidities such as movement disorders, GI and feeding difficulties, visual impairment, and hypotonia.

There is a spectrum of severity, but no matter what end the patient falls on, they live a life of dependency on others. We need a cure and our children are counting on us to find one.

Precision medicine is coming!

Gene editing and other technology mean that curing the uncurable is progressing fast. We want to be ready so we are funding critical research that will position us as an attractive target for drug development companies.

You can help!

Please help us help our children by participating in the Million Dollar Bike Ride. With the Orphan Disease Center's match of $30,000, we can make a HUGE impact on research. Please join us in riding for a cure!

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.