It can be difficult to process all of the information that you get from us and that you read online, so I thought I'd try to put things into perspective a little bit here. Some of the terms on this page link to definitions or explanations.
AJ had his first seizure when he was 5 months old when we were visiting the Kerns down in Maryland. Sarah watched him tumble over while he was playing, and noticed that his right arm was rigid and starting to twitch rhythmically. This tonic-clonic seizure progressed to involve his entire body, and it was eventually stopped in the hospital with some pretty heavy-duty meds. Because this seizure (and the rest of his seizures for the next few years - if left unmedicated) lasted over an hour, he was considered to be in continuous status epilepticus. Often you'll hear something like "the seizure generalized" or the older term "grand mal" when these seizures are discussed (more info on status).
Many tests obviously followed, including several EEG's and a genetic workup, until finally we discovered the source of the problem: a single base-pair deletion in the SCN1A gene in AJ's DNA. (here is an article that discusses the role of genes in epilepsy). With this finding we were at least able to put together a plan of attack with his neurologist Dr. Bean, and we began to learn a bit more about what AJ's future might hold. It was quite scary: progressive myoclonic epilepsy.
The big change came in December when we spent a few weeks in the hospital. We were trying to understand what was happening while we dealt with a new seizure type and the possible effects of new medications. AJ was starting to have complex partial seizures, and he was started on depakote to address that. This was the point that Dr. Bean finally said no matter how well AJ has done so far, he is starting to look like a Dravet Syndrome kiddo.
Now we're exploring just about every possible intervention out there, and we'll keep you posted on his progress. Drop us a line if you have questions, or leave a comment on the most recent post on the main page.
