Tell us about yourself and the Dravet patient in your life
Rachel (mom), Tyler (dad), sister (Riley age 5), and Brady (our warrior, age 21 months.) we also have two dogs a cat. We live in WV. For fun, we love to go on walks and play outside. Brady loves anything water related and playing with toy cars, tractors, bulldozers, or anything with wheels. He thinks his sister and dogs are hilarious. We love bathtime and snuggling in his room before bed. We love going to the park and feeding the ducks and playing in the rocks and on the playgrounds.
When did the patient’s seizures begin?
Seizures began at 6.5 months. The first one was about 20-25 minutes long and landed us in the hospital overnight. mri and eeg were clean that time. 6 weeks later he had another large seizure and 6 weeks after that a third (on his first birthday). He actually had to be intubated that time and was life flighted to a larger childrens hospital. Following his third large seizure (he was on keprra by now) we added vimpat but things kept getting worse. We started noticing lots of myoclonic seizures and had another eeg in October last year which showed tons of seizure activity. We were referred to Cincinnati childrens for genetic testing and in December found out he had the SCN1a gene mutation. Because of that and his multiple types of seizure, age of onset, and amount of status seizures he’s had. He was diagnosed with dravet. He has had six status events total and also suffers from myoclonic and atonic seuxires. We are currently on epidiolex and onfi and the medical keto diet and finally making some progress. It’s been a very difficult journey but he is such a happy little guy.
What is your hope for the future of your loved one? For the Dravet community?
All I hope is for my son to be as happy and healthy as possible and to be able to do anything he wants to do. I hope the Dravet community can be accepted, loved for who they are, and have access to resources that they need. I hope they have the tools they need to cope with this diagnosis and providers who understand the disease.
What advice do you have for newly diagnosed Dravet families?
Join Dravet family groups on social media. Find the best providers who will listen to your concerns. Have faith, and know that although some days are very bad, there are also some really good ones too. Research, pray, and tell everyone you know about the disease!
