Saturday, August 24, 2013

3 year check up, genetics

The three year check up was actually a delight. Everyone in the office was just stunned at what a big girl Ellie has become and were excited to see her. The pedi thought he heard a murmur but since her newborn cardio scan was clean and no one else has ever heard it in her billion appointments, he chalked it up to her being upset. No shots, which was nice. He even hugged me and said he always knew Ellie would turn out great because she had great parents. That really made me happy. He also thanked me for doing such a great job with her. Always stuns me to hear it. I just... do what I do. Nothing special. At least from where I sit. Outsiders, I guess, see it differently. The genetics appointment was a large disappointment. The new geneticist was nice enough, and our usual genetics nurse was pleasant. The geneticist came in and gave her a once over and then left. Our usual contact reviewed the fact that while Ellie shows "soft markers" of Cornelia De Lange Syndrome (short pinky finger, uni-brow, long eyelashes, body hair) there is no scientific proof that she has it (the genetic testing all came back clean). The contact offered more testing, but the chances of finding anything were less than 5% in one test, and 37-47% on the other. Further, she explained, it would only be useful if we were pregnant or having another child. I declined (and husband agreed). Essentially, she said, it comes down to keep doing what I'm doing with Ellie and we can call if we have further concerns and need her to write an order (for neuropsych, for example).

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