A few months ago, I contacted one of the principle researchers on Williams syndrome to find out of there were any research programs we could enroll Buddy in. She said there were, and I signed us up.
Part of the program is evaluating the genotype/phenotype relationship in Williams syndrome--whether there's a correlation between the size of the deletion on the seventh chromosome (genotype) and how severe or mild the symptoms are (phenotype). The lab associated with the research program sent us a blood kit, and Husband, Buddy, and I had our blood drawn and then overnighted back to the lab. This was to test our DNA (genotype).
Today, we met with Dr. Mervis and her research staff who evaluate the phenotype--for example, Buddy's cognitive and language abilities. They had us fill out several questionnaires, asked us lots of questions, and did an assesment on Buddy that was similar to the one done last week, at his preschool evaluation. We'll go back tomorrow for a few more tests and to find out the results.
We were able to watch most of the assement through a one-way mirror, and there was some frustration on my part when Buddy didn't answer questions that I know he knows--his colors, how to count . . . . He knows his colors but when the researcher asked him for a red crayon, he gave her a purple one (he got most of the other colors correct). And when she asked him to count blocks, he didn't want to go beyond two. Sigh.
And then there are the inevitable "does he do ___?" questions that I answer no to and then watch as an hour later he does what I just said he didn't/couldn't do. Sigh again.
We'll see how the tests say he's doing tomorrow . . . .
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