So, I didn't mean to take this picture. I was trying to get his grumpy face and I just happened to hit the button in the middle of a spasm. So this is Cyrus during a seizure. I've actually been meaning to post a video. This is a link to the original video we sent his pediatricians when all this started (he's so tiny!). I share it with you for educational purposes. If you ever see an infant or toddler do this, please say something to the parents. So often, these go undiagnosed and untreated for weeks and weeks because they don't look like regular seizures ('cause they're not!).
So... we finally have a probably culprit for Cyrus' seizures. Turns out that he has a freakishly rare genetic disorder called Adenylosuccinate Lyase Deficiency, which means he doesn't make an enzyme that needed to make nucleotides (for DNA replication and transcription). Needless to say, it's important stuff and it will affect him both intellectually and physically.
Emotionally, it's been a rough week, but it's hard to stay angry or depressed at the world when looking at this face!! Because he has been taking the news rather well - he's been smiling and giggling all week long! He's just that awesome!
His spasm seizures did come back as he was weaned off of the steroids so his dosage has been increased again and another medication that can control the spasms has been added because he can't stay on the steroids long term. And once they are gone again, we will go through a slower step down with the steroids. The scan though, did not show hypsarrhythmia again, which means this latest seizures have not been enough to mess with his brain waves too much. He just has some high voltage spikes - whatever that means...He's been pretty happy in general (except when he has to get poked at by doctors and EEG techs)!
