Congenital Adrenal Hyperplasia

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re: re: re: Jen's comments
May. 14th, 2008   1:09pm
We're currently preparing for the CVS in a few weeks. I noticed above someone mentioned the rarity of a spontaneous mutation. It is rare, but it is possible. We went through pretty extensive genetic counseling since my son has SWCAH and I'm expecting again.

I won't go through what we went through with my son again. He almost died and it was horrible and unnecessary. If we had known he had CAH, he could have had treatment right away and not spent the first two weeks of his life with his eyes closed and projectile vomiting. (not to sound like a huge downer, but that's what it was at first...pretty bad)

We just want the best opportunity for this child to be healthy. CVS and amnio are not as risky as they once were, especially if you are going to a place that has done them on a regular basis. Some of the statistics are skewed as well.

Regardless, I wish you luck and think the best course of action at this point is to have them do immediate testing upon the birth of your child. And absolutely get genetic testing of you and your wife to find out if you're both carriers. If you aren't then the chance of you having a CAH child by genetic mutation is fairly slim.

ali_marea




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