Penny was born in April 2015 a perfectly healthy 6lb 14oz baby girl. She was full of spunk from the very start, and it wasn’t until her first Christmas that we had any indication she’d have a life of ongoing medical complications. When we woke to her seizing on December 26, 2015, our entire world crashed. This seizure lasted 12-15 minutes and was the first time we’d ever called emergency services. We were assured by our local hospital that this was a fluke, most likely related to her having her first fever, and sent home with Diastat (just in case) and high hopes that it wouldn’t happen again.
But the next day, it did happen again. And then a few days later, a third time. After more than an hour of seizing, she was airlifted from a nearby parking lot to CHOP, where she stayed for days full of tubes and needles. She slowly recovered, and started a daily seizure medication, but despite CPR training and discussions with some of the country’s top neurologists, we were terrified to take her home.
Of course, eventually we did go home and learned to live in our new “normal”. We fell into a rhythm of routine 911 calls, ambulance rides, medication changes, and so. many. seizures. By 11 months we knew she had a mutation of the SCN1A gene. By 16 months she was officially diagnosed with Dravet syndrome.
Penny is now 8 years old and as it has since she was 8 months, Dravet syndrome impacts every single aspect of her life. She has tried dozens of medications over the years as her seizures have evolved, currently landing on a cocktail of 4 AEDs (anti-epileptic drugs) in addition to the many medications she takes for comorbid conditions. We’ve traveled across the country to participate in clinical trials, we’ve invested thousands of hours in intensive treatments like the ketogenic diet, and we’ve made extreme home modifications to remove all textures, patterns and light, some of her worst triggers.
The medical complications of living with Dravet syndrome and the limitations seizures have imposed on her life have encouraged us to lean on our family, community, and support network to give Penny the most fulfilling life possible. We are blessed with people who are willing to accommodate her needs – as bizarre as they may be – to give her experiences that she wouldn’t otherwise have.
Today, Penny is starting second grade with the support of a 1-1 nurse at our local elementary school in a classroom with special carpets, window shades, and table coverings. She attends dance class in a studio where she is accepted and loved, and where the blinds will go right up if her teacher notices them causing seizures. On good days she can play outside with her cooling vest and specially designed glasses, or ride her special needs bike. This fall she will also give soccer a try in a special needs league, something she’s been begging to do for a while. None of this is done without careful constant monitoring and occasional medical emergencies, but we are thankful for the many ways she is able to have joyful experiences.
The resources provided to our family by Dravet Syndrome Foundation have made our journey with Dravet syndrome bearable: from educational programming, support groups, patient assistance grants and access to financial support, to access to clinical trials and research studies DSF continues to be the foundation on which we can build a life with Dravet syndrome, all while we continue to work toward a cure.
