TBCK Syndrome is a very rare, neurogenetic disease that primarily causes developmental disability, intellectual disability, epilepsy, and low muscle tone. There are fewer than 70 cases confirmed internationally where impacted patients are children and young adults. TBCK Syndrome. Diagnosis of TBCK Syndrome is done through whole exam sequencing.

The reason that we, the TBCK Syndrome Community, are riding is simple: hope. Our community is hopeful that with the help of our passionate and active researchers at CHOP and their plans to better understand TBCK Syndrome, that our children have hope to live the best lives possible. Since TBCK Syndrome was only confirmed in research in the Spring 2016, most families are new to the diagnosis, so any insight and hope of a potential treatment and intervention is promising. The Million Dollar Bike Ride raises funding for our researchers and also gives our community an opportunity to raise awareness about TBCK Syndrome.