The Jack Pribaz Foundation and KCNQ2.org

Field: Medicine (Health Sciences)

Mike and Jack Pribaz. Our son was born in March 2009. Jack was our first child, and because his seizures began when he was just hours old, epilepsy has been nearly synonymous with parenthood for us. Liz's pregnancy had been normal, so nothing prepared us for the battery of testing that Jack was subjected to in his first months of life. As test result after test result came back negative, our doctors began to prepare us for the possibility that we might never know the cause of Jack's seizures. The prospect of living without answers was nearly unbearable. We adapted to life with Jack's medical mystery, which manifested as not only continued seizures but also a spectrum of developmental delays. Magnetic resonance imaging (MRI) and initial tests of the blood, spinal fluid, and urine did not show a cause for his seizures, so his doctors began testing genes known to be associated with early life seizures at that time. Jack was 2½ years old when we learned that he had a mutation in the KCNQ2 gene. Getting the news that Jack's doctors now had a culprit—a target—was exciting. Immediately, we did what anyone these days would do: We turned to the Internet for information. But there was none. Our doctors at that time had no other patients like Jack, but were aware of a few scientific papers written by and for research experts that provided a good explanation. We found out that some kids had mutations in KCNQ2 that resulted in an inherited benign familial neonatal epilepsy, but our genetic tests showed no such history; Jack's mutation was de novo, or brand new. Our doctors suspected that although we seemed to be alone, that would change. There had to be more kids like Jack out there. We wanted to help find them. So a group of friends from Wheaton, Illinois, got together and helped us start The Jack Pribaz Foundation in December of 2011. Our mission is to raise awareness and fund research of the KCNQ2 gene. Liz and I didn't want any other parents to have to feel alone with this diagnosis. We wanted them to have a place to land when they, like we did, turned to the Internet for answers. We started www.JacksArmy.org, and it was through this web presence that the other families began to find us. It's impossible to overstate just how powerful it was to be able to communicate with other parents who shared our experience. The www.JacksArmy.org Website continues to be a wonderful way to stay in contact with our local friends and supporters, but we realized we needed a bigger “home” to accommodate an ever-widening audience. Other local groups and social media outlets have sprung up, and we wanted to make a place for all those groups to be able to come together under one virtual roof. The KCNQ2.org debut at the AES meeting in Seattle Families and physicians together at the KCNQ2 Denver Summit in September 2014. A professional and parent conference on KCNQ2-related epilepsy was held in September 2014 in Denver, hosted at Children's Hospital Colorado. It was the fulfillment of a dream first conceived while we were on a KCNQ2 family field trip to Dr. Edward Cooper's lab at Baylor College of Medicine in March 2013 (http://bit.ly/1p58LCI). Our idea was to get as many parents and doctors together as possible in one room to meet and share ideas and experiences. The resulting two-day Denver “Summit” attracted participants from across the globe. Parents traveled from all over the United States, Canada, Ireland, Guatemala, and Australia. Expert presenters came from Chicago (Dr. John Millichap, MD, from the Ann & Robert H. Lurie Children's Hospital of Chicago; who was also the Foundation's first scientific adviser), Houston (Dr. Edward Cooper, MD, PhD, from Baylor College of Medicine), Denver (Dr. Kristen Park, MD, from the Children's Hospital Colorado), and Belgium (Dr. Sarah Weckhuysen, MD, PhD, from the University of Antwerp) (Drs. Cooper and Weckhuysen are now also our scientific advisers). The conference provided parents and researchers with an opportunity to meet each other, ask questions, and gain insights into the science of this emerging condition. Although our foundation is still young, our fundraising efforts have been very successful. We provided a seed grant to Dr. Cooper in 2012, which, in turn, enabled Dr. Cooper to secure additional funding from the National Institutes of Health to study KCNQ2-related epilepsy. The Foundation recently awarded him with another grant to support a project called Rational Intervention for KCNQ2 Epileptic Encephalopathy (RIKEE). The international, multicenter project includes a patient registry to study variants and phenotypes. RIKEE is a powerful collaboration by scientists and doctors to grow understanding and introduce effective treatment for epilepsy and developmental impairments caused by KCNQ2. We love the cooperative, interdisciplinary nature of the project, and we look forward to supporting more research consortia like it. Our foundation wouldn't be what it is today if it were not for the tremendous help and encouragement we have received from all sides. We reached out blindly into what felt like a void, and found compassionate, generous researchers and clinicians who want to help. We are especially grateful and honored to work with so many dedicated parents from all corners of the world. While at first we were one family, alone with KCNQ2, we are now a part of a growing, global KCNQ2 community. We must also thank the Epilepsy Foundation of Greater Chicago (EFGC) and Citizens United for Research in Epilepsy (CURE), who have always been supportive. In fact, our participation in the EFGC Epilepsy Walk way back in 2009, long before we had the KCNQ2 diagnosis, was where we first came up with the name “Jack's Army.” Jack was just weeks old, the weather was cold, and we were overwhelmed. Rather than becoming paralyzed by the unknown, we called on our friends and family and started, quite literally, moving forward together. At the EFGC Gala this past year, President Kurt Florian singled out The Jack Pribaz Foundation as an example of a successful grassroots effort. The plan is to keep moving forward, TOGETHER IN SEARCH FOR A CURE. Find us at www.KCNQ2.org or email us at info@KCNQ2.org. The authors declare no conflicts of interest. 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