At the peak of autumn, Epilepsy Awareness Month is like a homecoming for families of children who have a rare genetic diagnosis like KCNQ2-related epilepsy. When seizures begin within hours of birth, as they did for my nephew Jack, epilepsy often becomes a default medical “home.” Without other diagnostic information, the greater epilepsy community is the first place you rally.
Jack was only weeks old and just out of the hospital when my brother Mike and his wife, Liz, connected with the Epilepsy Foundation of Greater Chicago and recruited a team for the local Epilepsy Walk. We called ourselves Jack’s Army, made up some camouflage t-shirts, and converted our nervous energy into forward motion. There were thousands of others in the park that day, all rallying around someone they loved. Being connected to something greater than ourselves was a powerful first step in this journey. It diminished our sense of isolation.
Months and then two birthdays went by without answers. Vials of Jack’s blood traveled to labs around the world. His parents and doctors tried all kinds of therapies to curb his seizures, with varying success, as Jack fell steadily behind in his developmental milestones. Doctors tried to prepare us for the possibility that we might never know what was causing his epilepsy.
Then in late 2011, a mutation was pinpointed in Jack’s KCNQ2 gene, which codes for potassium channels in neurons. Mike and Liz did not carry the defect, meaning their son’s mutation was de novo. The medical literature was silent on this finding; Jack’s doctors could find no other cases. But they knew one thing: as the genetic test became more widely available, we would find more children like my nephew.
No one should have to be alone with this diagnosis, no matter how rare. That’s why Mike and Liz, with the help of some very good friends, started The Jack Pribaz Foundation. They set out to find others, fund research, and push for answers. And while the science is catching up with the reality of these kids’ medical needs, families now have a “home” where they can share their particular experiences and support one another in the day to day business of getting on with life.
Raising awareness is so important because there is strength in numbers. We have reached families across the United States and in Canada, South America, Italy, Ireland, Australia, Israel, and beyond. Grants from our foundation have funded KCNQ2 research and seeded large federal grants. We have also granted funds to develop a powerful patient registry called Rational Intervention of KCNQ2 Epileptic Encephalopathy (RIKEE). To date there are on the order of 200 known cases, and this generous sharing of patient data has accelerated collaborative research. In a couple of weeks we will be traveling to Philadelphia for the annual American Epilepsy Society meeting where we will be manning a booth and proudly cosponsoring (with CURE Epilepsy and NINDS) a special meeting of international KCNQ2 researchers.
This Epilepsy Awareness Month, we at The Jack Pribaz Foundation cheer for all those with whom we have had the good fortune to connect. We send our thanks to the researchers, clinicians, and families of the KCNQ2 community and encourage everyone involved in rare epilepsy genetics to rally on. We are Together in Search for a Cure.
More about the history and evolution of The Jack Pribaz Foundation and the KCNQ2 community can be found in Epilepsia’s January 12, 2015 issue.