Tell us about yourself and the Dravet patient in your life
Will is our middle child with a de novo SCN1A mutation. He loves balls, cars, music, wearing one shoe and playing peek-a-boo. We live in southeast Missouri and enjoy going to the St. Louis Zoo, going on walks as a family with Will’s service dog, and playing outside when the weather is least likely to send Will into a seizure.
When did the patient’s seizures begin?
Will had his first seizure at 3 months old and it lasted 50 minutes. We were told it was most likely a one time thing and maybe not even a seizure. He had a second seizure two weeks later that lasted an hour an a half which prompted an MRI and genetic testing which discovered his SCN1A mutation. As his seizures became impossible to control and he started missing milestones, he was given a Dravet Syndrome diagnosis. We felt numb, hopeless, and shocked. It seemed like a diagnosis that was impossible to navigate, but we soon found our Dravet Syndrome community that helped us through.
What is your hope for the future of your loved one? For the Dravet community?
My overall hope is always for a cure. It is so exciting to see these clinical trials come to fruition even in our 4 short years of diagnosis. I would also love to see a drug developed to actually control these severe seizures and give our kids a chance at a normal life.
What advice do you have for newly diagnosed Dravet families?
Take it one day at a time and remember that what works for one family may not work for yours.
