Julia is and has always been on her own path… Born 9 days late, she is the light of our lives.
Her first seizure was the day after her two-month vaccinations. She did a weird thing, shaking her left arm for a few minutes, then stopped and took a nap. We thought it was odd, but she was perfectly normal after her nap, and we went about our business. I mentioned it to her pediatrician and was asked to take a video if it happened again. It did, of course. Within thirty minutes of sending in that video, we were on the phone starting the process to get assessed by neurology. While waiting for those appointments, we had our scariest moments and almost lost her. Shortly after starting daycare, Julia developed what we thought was a cold. Turns out she had RSV, which was diagnosed after a two-and-a-half-hour-long seizure that required support to breath and doctors having to use a bag valve mask for more than an hour until the doctors could get her stable. After three weeks in the hospital, she had lost all the skills she had developed in her short five-month life including sitting up and rolling over. She would never catch up with her peers.
She was sent home on several medications, some to wean her off the strong sedatives and some for seizures. During that time, she developed several other seizure types, some that looked like small jolts, some absence. All the while, her neurologist was telling us that her condition was benign. But nothing was working. After more failed medications and more trips to the emergency room, we finally requested to switch neurologists. One phone call with our new neurologist and he already suspected, Dravet syndrome. He ordered a genetic test, and his suspicions were confirmed.
We have been through every phase of this disease – from completely isolating at home, fearful of any trigger that might cause a seizure to road trips to the Grand Canyon, cruising to Alaska and beyond. We are planning to take our largest leap yet and flying to Europe this summer. Wish us luck! Through all of this, there are seizures and, more recently, behavior issues. We just make plans and backup plans and set our expectations low, so that everywhere is up!
There have been so many ups and downs on our 12-year journey with Dravet. We have failed so many drugs, and even Keto. Our first clinical trial was a great success, nearly eliminating her seizures during the day beginning in her last year at preschool. When she was well into elementary school, we began to worry more about losing her one-on-one nursing support since she had not had a seizure there in her first 4 years. After total isolation from the pandemic ended and when she went back to school, she had her first seizure there and with a few others in the next couple of years. Now that she’s approaching 13 years-old, we’ve seen a regression in her seizure control almost to where it was before we started the drug trial many years ago. As a result, we hope to find more options to improve both her quality of life and ours as a family.
We have taken part in two different clinical trials for new medications. We love being able to advance the science, help find new treatments for others, and have access to medication that could be life changing as soon as it’s available.
We are grateful to the Dravet Syndrome Foundation for connecting us to other families like ours, increasing awareness so that kids can get diagnosed earlier, and most of all, for funding research and being committed to finding a cure for Julia and all of the kids affected by this disease!