Born a perfectly healthy baby, Violet was the center of her parents' happy world for 10 blissful months, until she suddenly began having seizures. Her family's happiness is now shadowed by the constant threat of seizures. Like many girls her age, Violet loves swimming, baking and pretending to be a ballerina. But she is aware and worries about the ways that she is not like other children - the ways she is "behind," sicker and more limited. Despite all that she has been through, Violet has a huge heart that is full of love and is happiest when she's making someone else laugh.
Matt is a lifelong fan of Star Wars, Lord of the Rings, science fiction novels and video games. He has spent most of his career as a game designer and is currently working at Tell Tale Games in San Rafael, California while volunteering for the PCDH19 Alliance. He lives in Novato, California with his wife Julie and two children, Violet and Rory.
Julie has spent her career working for small and growing companies in the Bay Area. For the past 10 years, she has worked as a recruiter and account manager at SearchPros Staffing. Julie Walters co-founded the PCDH19 Alliance after her daughter, Violet, was diagnosed with PCDH19 epilepsy. She currently serves as the foundation’s President and Executive Director. In her free time, Julie enjoys spending time on the trails, traveling to represent the PCDH19 Alliance and going on family outings with Matt, Violet and Rory.
Helen Yates has been a nurse for over 20 years. She has two adult children, one who is in college and another who is in the U.S. Marine Corps. In addition to working with children, she enjoys obstacle course racing, taekwondo and gardening.
Violet's little brother
Rory is four years old and is almost as passionate about preschool as he is about robots and cars--almost. He has a playful spirit and finds great joy in playing jokes on his family. His most current favorite joke is to ring the doorbell and then hide behind the bushes. Rory adores his big sister, but also worries about her and wishes she would never have another seizure.
Director of the Pediatric Epilepsy Center
Dr. Sullivan is a pediatric neurologist and the Director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy that does not respond to medications.
Dr. Sullivan also has a specialized Dravet/PCDH19 clinic, where he follows a large cohort of children with these types of genetic epilepsy. Dr. Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers to collaborate on various studies in pediatric epilepsy. Dr. Sullivan is an investigator in the Epilepsy Genetics Initiative, sponsored by CURE where the primary aim is to identify novel epilepsy genes in patients who have undergone, whole exome testing.
AO MBBS PhD FRACP FAA
Professor Ingrid Scheffer’s work has resulted in major paradigm shifts in epilepsy syndromology and classification over many years. Her work has formed the essential basis for successful gene discovery such that her larger collaborative group has been the leaders in epilepsy gene identification for 18 years since they discovered the first gene associated with epilepsy. This body of work has resulted in insights into the biology of seizures.
To learn more about Dr. Scheffer please visit http://www.ingridscheffer.com/about.html
Dr Jozef Gécz is a senior researcher at The University of Adelaide studying the various mutations of a small part of the X chromosome that lead to intellectual disability. For over 25 years, he and his team have been leading the forefront of disease gene discovery. They are responsible for identifying over 50 syndrome-causing genes, including the PCDH19 gene.
Dr. Farfel has 20 years of experience in clinical development, regulatory strategy and medical affairs. She advises companies on asset evaluation, clinical development program planning and regulatory strategy for new chemical entities, new indications and new formulations. Her expertise spans across many indications in psychiatry and neurology, including affective disorders, substance abuse, neurodegenerative diseases and pain.
Mom to Kira, Age 16
Karin co-founded the PCDH19 Alliance with Trista and Julie after her daughter, Kira, was diagnosed with PCDH19 epilepsy at age 9 and she found other families with daughters who were also diagnosed with the rare disorder. She currently serves as the Vice-President of the PCDH19 Alliance.
Mom to Ann, Age 6
Leslie is the PCDh19 Alliance Secretary of the Board
Mom to Alice, age 16
Mom to Evangelyn, age 4
Mom to Bella, age 7
Chairman and CEO Marinus Pharmaceuticals
Mr. Cashman is a recognized leader in the biopharmaceutical industry and has decades of experience leading life science companies, including serving as President and CEO of two private biotechnology companies and holding executive level roles in Pfizer and SmithKline Beecham.