RebeccaCarol M,
Wow, what a memory. Yes, they suspected at first that she had the 11 OH but it was a "lab error" (they said) because of a problem with the acids used in the test (Dr. New’s office said it is a common problem). They were treating her as 11 OH while in the NICU and the day we were originally supposed to bring her home, she had a bad crises. An alert Dr. on duty (who was quite familiar with CAH) reacted quickly and saved her. They sent her blood out to another lab for testing and when they got the results - it showed a 21 OH result. Thats when they called Cornell and found out about the acids in the test. We were going to go to Cornell for the DNA tests but we couldn’t afford the stay and so we called NIH who sends their DNA tests to Cornell anyway.
You know, I believe you are probably right since they decided to sequence BOTH genes AFTER they got the results back on the first DNA tests, found nothing, and then contacted our daughters endo who told them about the early mix-up. You are probably right on the money, thanks, I never thought of it that way. Now, I guess I had better read up on the differences with 11 OH and be prepared. Who knows, could be 11 genotype, 21 phenotype? ugh.........My head already hurts:)
Thank you,
Rebecca