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re: re: re: re: re: re: re: re: my child with cah to erin and all who answered sarah Jun. 23rd, 2008 3:55pm
I guess a girl with swcah usually has ambiguous genitalia. My daughter was very fortunate to be born with normal female genitalia. Because she didn't have the physical signs it took almost four weeks to get a proper diagnosis. All the doctors kept thinking the blood test were wrong because girls almost always have that symptom. When we ended up in the hospital she was visited by an insane amount of doctors because she is somewhat of a mystery to them. They just couldn't understand that she had swcah and looked so normal and healthy. She didn't even show signs of dehydration but her blood work was extremely off (which is why they told us to rush her to the ER). God really watched over my little girl. I am so grateful. My husband and I are considering having another child and went for genetic counseling and that doctor also told me how lucky my daughter was. If we do decide to have another baby they will put me on a type of cortisone during the pregnancy to hopefully prevent the genitalia problem in a girl with cah. Once the sex and cah status of the baby is determined I can go off medication or continue if need be. Sorry for rambling. I guess to make a long story short, it's rare but apparently it can happen.