Congenital Adrenal Hyperplasia

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re: re: re: re: re: re: (to Kat) crazy labs
Apr. 27th, 2007   9:48pm

I can feel your frustration Kat. I do hope that these things get figured out. I don't think you are crazy for wanting genetic testing done. The problem with that is that they too are not fool proof. There are times with mutations are missed. My daughter would have been dxed as simply a carrier, because they missed her deletion the first time. They only test for the first 10 to 12 most popular mutations, and if I am correct the deletion is one of those first ones and it was still missed. So anyway, after all of that you still may be left with questions. But it is worth the shot.

 But before you do that, I would maybe find a doc that does think it is medically necessary. I do feel for you. I know that feeling too, to have things going on that I don't know how to help or fix and that is what moms are supposed to do right? BTW we finally found out that my daughter is insulin resistant yesterday. She was started on metformin. Now I have the question if the steroid itself is causing that. I dunno.... anyway being a mom...a never ending battle. Take care...a big hug to you for a tiny bit of comfort.....

m1




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