Thursday, January 25, 2007

Not a dwarf

We took Thane down to Portland to see a geneticist today. She said pretty early on that “there is no way he is dwarf, I don’t even know where they came up with that!” – but then she said there are different kinds of dwarves, including some normally-proportioned, but really the only piece there that remotely fits is that he has tiny facial features . . . but so do I. He has a tall forehead, but so does Dave.

Basically she didn’t see any physical characteristics that make her think we’re going to find a cause for his autism. She said they always check for fragile-x as it is associated with mental retardation and autism, but usually more profound autism than Thane’s. She didn’t want to set up another appointment unless they find something in the blood work, which should come back in a month. If there is anything there, she will suggest we return and also bring Braeden.

She actually plans to write to our family doctor about me . . . the karyotype I had done almost 11 years ago showed a Turner's mosaicism. I guess I get to have some screening done because of that.

On to the next challenge . . . questioning CDS about appropriate goals for Thane.

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