Tuesday, June 2, 2009

Back to the geneticist...

We go back to the geneticist the day after tomorrow. I'm actually really looking forward to it. There has been some buzz on the Goldenhar and Atresia/Microtia Yahoo groups about genetic testing. We haven't had any blood tests, for various reasons, but mostly because two years ago, the genes for the syndromes and symptoms along the OAV spectrum had not been identified. I've heard rumors that may have changed recently. So, I'm curious to see what we learn at this week's appointment. When we took Shae as a baby, it was very enlightening. It took about 2 hours, but was well worth it in order to get a definite diagnosis. Through the geneticist, we had our referrals for the spinal X-rays and cardiology work-up, so I have the comfort of knowing that Shae's spine and heart are fine. I completely recommend a trip to a geneticist if you have a child who was born with any sort of congenital medical issues.

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