Aubrie is the co-founders, April and Justin Krowel's, second daughter. She affectionately goes by Brie or Briezy.
Aubrie was a typical baby. She smiled around 2 months, rolled over at 3 months, started crawling at 6 months, was already standing up on her own at 8 months, and took her first steps just before her first birthday. Her development was either on time or earlier than expected.
February 13, 2016. The worst day of our lives. She had been sleeping in her crib alone for a few days, as we were working on that transition. For some reason, we decided to keep her in bed with us. At about 3am, we woke to find 8-month-old Aubrie in the middle of a seizure. There really are no words for the panic that ensued.
We called 9-1-1 and April went to the hospital with her. Three hours later, she had another seizure in the ER. We were then transported to a local children's hospital for more testing and observation. Nothing special on EEG or other testing.
About three weeks later, she had another hour-long seizure that earned another stay at the children's hospital. The next day, she was ready to go home but had a two-hour seizure that bought us a ticket straight to the PICU. This was the second worst day of our lives because she lost some oxygen and started turning blue. We thought our daughter was going to die.
During this visit, a neurology resident suggested we do genetic testing because the hospital would absorb the cost since we were admitted. Due to the potential costs, we obliged.
Two months later, we found ourselves in the children's hospital ER again. The same neurology resident was on that evening and informed us that Aubrie had tested positive for the SCN1A mutation.
The SCN1A mutation means that she falls somewhere on a spectrum of epileptic disorders called Dravet. The very mild end equates to simple febrile seizures while the opposite end equals full-blown Dravet, which is catastrophic and is most often accompanied by severe developmental disabilities.
Fast forward to present day. She has had so many seizures, we cannot keep count, and they just keep coming. We meet our insurance deductible and out-of-pocket maximum by February of each year. We spend several hours each month (sometimes each week) on the phone with our insurance company to get medications approved and ambulance rides covered. One time, we were informed that our insurance company only covered one emergent ambulance ride per day.
We have had to seek out information on our own about developmental delays, early intervention, and sudden unexplained death in epilepsy (SUDEP).
She currently presents on the clinically mild side of Dravet. She is in daycare full-time, and typically only has seizures when ill and/or febrile. Other triggers include being overwhelmed or overstimulated, overheating, and being tired. Developmentally, she is delayed in expressive speech as well as fine and gross motor skills.
The scary part of this disorder is it can change its course without warning. She can be developing normally now and begin to regress without apparent cause, only to find out it's due to subclinical seizures. She could begin to present with additional seizure types or experience an increase in seizure activity, which would definitely affect her development. She could have a status seizure that lasts hours from which she doesn't fully recover. She could lose too much oxygen during a seizure and have a stroke.
The worrying never ends. For us and for other families.