Neurology and EEG

So far we still haven't heard back about his EEG, but did get some info/tips from the neurologist. From comparing his MRI from December to the one in May, his white matter has continued to develop. It is still delayed, but at least we are making progress. The delayed area in his frontal lobe hasn't really changed too much and is still more delayed than the rest of his brain. Right now it is still unclear what exactly that means. I actually got a chance to see the images of his brain for the first time yesterday, so that was kind of cool. It sucks that he has to have images of his brain taken in the first place, but still kind of cool to see.

They are likely going to test him for something called cornelia de Lange syndrome in the near future. He has a lot of the clinical features, especially excessive body hair, a unibrow, really long eye lashes, and fast hair growth. There seems to be about 50 different symptoms, most of which he has. Google has a lot of info if you are really interested :). Because so many syndromes have so many overlapping signs/symptoms it's hard to say what will happen. It's also not that easy to test for. There are several different genes that can cause it, so it seems like you just have to start with one and keep trying until you find it or run out of options. I'm sure insurance will love that! Since his unibrow isn't that bushy and his facial abnormalities are somewhat subtle, I think it would be a milder case. I had done my own research when he was younger and had wondered about this syndrome, so it's interesting to know it might be a possibility.

There is another syndrome they might be testing him for, too. I forget what it's actually called, but it's PMD. The neurologist doesn't seem to think he even has it at all, his development is too "good" and the delayed myelination isn't in the right areas of the brain. I think they are just going to test him because they are running out of things to test for! It's another genetic test so if insurance won't cover it, they won't even bother with pushing for it.

He also suggested we try a communication device (usually people use IPADS) so that he can let us know easier what he wants instead of crying and hoping we figure it out! I think the rest of us will appreciate it as much as he does! I've got all my teacher friends and relatives doing my research for me to find the most toddler proof one. After digging glass out of his mouth from biting my cell phone, I'm not sure what damage he could do to a (VERY EXPENSIVE) tablet! Whenever his gait trainer comes in, I can order an attachment to fit an IPAD/Ipad like device. Since my sign language lessons didn't go over real well, I am hoping someone will be able to teach me how to teach him to use it!

He is having us wait to do all the tests he wants to run until he knows if insurance will cover the PMD test. This way he won't have to get poked as much. I have no idea how long that will take, but will be sure to keep posting as I find out more!