No more real puzzle pieces either.
I don't know what to really think of today. Zachary had his first appointment with the Geneticist today. I liked her, that is always a good thing.
The appointment started with 3 people in the exam room going over the history I had already sent to them. I guess maybe it was a little more detailed hearing it from us. It sure was nice to know it had already been read over as the one lady kept saying "ah, yes I remember reading that in the information you sent"
Next they all left the room and took the pictures I had brought with us to go over the information with the doctor. Then they all, including the doctor came back into the room and did their examination of Zachary. We did get a definite diagnosis from the geneticist of apraxia of speech. She also told us that there were some good things about Zach along with some not so good things. It is evident he has had a rough health history his whole life, but on the plus side she said he seems extremely intelligent and is good at engaging himself.
Of course she could offer no clue as to anything that is going on with him at this point without running more tests. She suggested doing a more precise chromosome study on him that will cost anywhere from $300 - $1600 depending on if we can get it approved or not by our insurance company. Also doing yet another urine test on him - but something that hasn't been done, this will test him for a metabolic disorder, she had a concern because of the smell of maple syrup that has always existed with his urine since he was born.
For now we wait --- the past 22 months of Zachary's life has been one big waiting game and right now is no different. We go back to see her on Aug 20th - all the tests will be back by then and we will go over them in detail.
Let the waiting continue.......
Wednesday, July 23, 2008
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1 comment:
So, less than a month and you go back...that is REALLY good! A photographer I know is having genetic testing done on her son and it took three months!
I'm glad you like her so well...sounds like she's awesome and really wants to help Zach!
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