Wednesday, July 14, 2010

"more more more"

I am hoping that all my fellow bloggers continue to read even after my last depressing post; I try to convey my life honestly. Some days are great... and others.. not so much; which I know must be the same for many people. So lets just be honest and ride the waves with each other.

This week has brought about some positive changes. Ella and I have been working hard on potty training so she will be ready for pre-school in the Fall. (The program asks that children be out of diapers.) Originally I thought of this training as a dreadful chore but then decided to have a change of heart and be excited about this new step. I took Ella alone on a special mommy date; we went way overboard and selected MANY pairs of awesome underpants (girl and boy pairs; because she wanted Cars and Toy Story as well as princesses). We then took our underpants; the new "eye doctor kit" (a splurge) and went to lunch. We sat across from each other and ate while Ella listened to her own heart with the stethoscope. A rare moment for us and a memory I will cherish. I am still trying to keep up my motivation even when cleaning poop out of big girl pants; but overall she is doing well. We are on our way....

William has been consistently hitting his communication switch to ask for more during meals despite the increased seizures. It is a simple device that has my voice recored onto it saying, " I want more." I put it on the far end of his tray while he is eating so that he has to purposefully reach and hit the button. I am not sure that he sees the switch but he feels for it and then hits it... again... and again and again!!! :-) He is very demanding when it comes to food and I could not be happier.
And finally I received a long awaited call from our pediatric genetics office about several tests we are doing with William in our search for a specific diagnosis. Our doctor already tested for "hundreds" of more common syndromes and completed a micro-ray analysis which shows that his chromosomes are typical. Of course we know via MRI that his brain is not typical; he is missing a lot of tissue in the center and the occipital lobe is smooth versus a normal brain which has ridges and folds. These last few tests were for more rare syndromes and ALL come back negative. We may have one lead; a blood test showed elevated protein levels. I am taking him in to get another blood draw next week for a re-test and then testing for some metabolic disorders. I spoke briefly with a genetics counselor over the phone who told me high protein levels could simply mean he ate to much chicken or his body is missing some enzymes that break down proteins and high levels could be toxic to the brain....hmmmmm... I hung up the phone thinking genetic counselors are evil. Of course they aren't and we just need more testing and more information to work with; but alas the wait goes on....

I will update more when I know more... ( I like the dot dot dots :-p ..... )

On the lighter side; my birthday is approaching and I am going on a much anticipated trip with Wayne to Toronto for the Jack Johnson concert!!! We are going with my lovely sister Katie and her boyfriend, Ben, so it should be a fantastic time. Hopefully a time to relax enjoy some good food and drink, let loose, and reconnect.

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