In 2019 at age 23, Jake is among a smaller but ever-expanding group of adults with a diagnosis of Dravet syndrome. Like most, Jake was an otherwise healthy baby who began having seizures when he was seven months old. The year that followed was crisis driven, with prolonged and frequent seizures, ambulance rides, hospitalizations, testing, and failed medications. We felt scared and helpless watching our baby boy endure seizure after seizure, and despite our best efforts and those of our doctors, we had no answers, no diagnosis and no effective treatment. In the 1990s, Dravet syndrome was a virtual unknown.
At age 17 months, Jake started the ketogenic diet, with near miraculous results. Within days, his seizure activity decreased greatly and within months, he was able to become medication free. This stability lasted for two years, until gradually the seizures started to come back. In 2005, just before he turned 10, Jake was found to have a partial deletion in the SCN1A gene, suggesting a diagnosis of Dravet syndrome. That same week, he was also confirmed as having multiple mitochondrial defects, suggestive of mitochondrial disease. In the words of his neurologist, it was like “being hit by lightning twice.” It wasn’t until 2014, at age 19, that we repeated genetic testing and obtained a firm, documented diagnosis.
For most of his life, Jake has endured hundreds of seizures per year. He has failed numerous anticonvulsants, medications and treatments. We have tried osteopathic, homeopathic and alternative medicine. He remains on the ketogenic diet, still, 22 years after starting it. Since age 10, Jake has suffered a long, slow, steady decline in his health and medical stability. He benefitted from pediatric palliative care comfort care services and therapies for many years, and was under hospice care for two years. Armed with knowledge from DSF, and thanks to our amazing team of progressive physicians, Jake has recently been enrolled in a clinical trial for a new Dravet-specific medication. For the first time in many years, we are seeing some positive results and we have renewed hope for a future with fewer seizures. Research is critical and it’s never too late.
Jake lives at home full-time with his family. An amazing team of caregivers, teachers and therapists help us to care for him and keep him engaged. He is busy every day, as long as his health allows, and his weekly therapies include massage and music, which are two of his favorites. He enjoys spending time with family, outside play, car rides and, amazingly enough, going to the doctor! They say it takes a village, and in our case, nothing could be more true.
Jake is a cherished son, brother, grandson, cousin and nephew. He is also a fighter, a teacher, a survivor, and an inspiration. Dravet syndrome doesn’t just affect one person, it affects the whole family. It is hard to live with. It is unpredictable and relentless. We are so encouraged and grateful to see research being done, children being diagnosed earlier, targeted treatments being developed and ever expanding awareness and support of the Dravet community.
Our family is honored to give back to DSF, which fills a critical need for Dravet families. We particularly appreciate DSF’s focus on resources and support for the adult patient population. We’ve come a long way since the earlier years when the best doctors in the country couldn’t give Jake a diagnosis, but there is still so much to be done. Your support of DSF will go a long way to ensure a better future for all of those affected by Dravet.