It has been a while since my last post, and a lot has happened in the interim. Summer turned to Fall, schedules got crazier, and Simon has had a few more seizures. Not knowing what else to do medication-wise we decided to do an overnight EEG (electroencephalogram) with Simon to see if we could capture any information on his seizures that would help lead to more targeted treatment.
The EEG itself is non-invasive -- basically a whole bunch of sticky electrodes are placed all over the head and chest of the person being tested -- but it was still pretty traumatic for our little guy. I did my best to make the test as easy on him as I could, preparing him through viewing social stories and you tube videos of the process, and then trying to put a positive spin on it (I called it a "hospital sleepover with stickers!" I even brought popcorn and a new video), but he wasn't having any of it. As soon as he saw a hospital bed and a bunch of wires he imploded and we spent the first several hours of the test just trying to calm him down and hook him up. Eventually, we succeeded and he did fall asleep. The next morning the technician unhooked us and we were sent home after being told it would be 2 weeks before we could see any results.
I doubted we would find anything from the EEG. Our doctor wanted to keep Simon on his meds for it to get a "baseline" view and he had no seizures while we watched over him (all...night...long). I left thinking that the effort was futile and we would have to repeat the process another time without medication in order to learn anything.
I was half right.
We will be repeating the process, many more times, but not because we didn't catch anything. As it turns out, we caught a lot.
Monday I got a call from our Neurologist saying that the results were in, they were interpreting them, and she wanted to let me know that they had noticed some abnormalities. She asked me a lot of questions about Simon's development and progress. She specifically wanted to know when we started to notice any autism-like behaviors. She explained that there are epilepsy syndromes related to the abnormalities they found and she needed to do more research to be sure of what we were dealing with.
I tried not to freak out (too much).
Over the course of the week there was a lot more discussion between myself and the KKI neurology team about Simon's EEG. Finally, he was diagnosed with ESES -- Electrical Status Epilepticus of Sleep. People who have this condition experience many, many sub clinical seizures (a sub clinical seizure is a seizure in which the brain activity is epileptic but there are no outward visible signs of seizure). Sometimes they have them while awake, but they mostly occur while sleeping. Over time, the constant seizure activity can erode a person's cognitive and physical abilities. It can cause language and communication delays (and therefore is sometimes mistaken for autism) and behavioral changes. It can even cause psychosis.
We learned that for over 85% of Simon's non-REM sleep he is having seizures, and that he also experiences them while awake. We also learned that this condition is very, very rare. So rare that there isn't a statistical prognosis or a set course of known effective action. So rare that no matter how many times I google it I only come up with the same handful of articles (which mostly state how rare the condition is). So rare that most doctors have never dealt with it and there is only one person with enough understanding and experience in it to be considered an expert.
Fortunately, that expert is no further away than NYU, and doubly fortunate he seems to be a very nice and knowledgeable physician who doesn't mind answering a very worried mom's millions of questions for nearly an hour this morning. His name is Dr. James Riviello and we have an appointment with him on Thursday of this week.
So, we are headed to NY in a couple of days and I am picking the blog back up. I know that somewhere out there there is another worried mother whose baby has just been diagnosed with a rare disease... maybe even ESES. For her, and for the many people that love us and hold us in the light, I'm writing again. Pray for miracles -- we need them.