Macarena,

No, they did not question the diagnostics because of the DNA.  She was diagnosed due to the ambiguous genitalia, sickness, and lab results which, in the beginning, showed her levels all extremely high.  They did, inadvertantly, diagnose her with 11B (not sure what the correct name is) due to a lab error but they are now sequencing that gene as well since they are  backtracking because of the DNA.  The Dr.’s have always said that they treat almost every child as a salt waster in the beginning because there are so many different types, because of the immature kidneys, and their desire to "get through" the first year.  She has had her medications reduced twice because of oversuppression and kidney maturation.  I have read here that this is common in the beginning and her HC meds will probably go up again later, as she gets bigger.   She has been smack in the middle of the 50% height and weight every time we check but did have a bit of the "moon face" right before they reduced her florinef from too much salt retention.     Her last test results being renin .58 ng/ml/hr, adrost <4, 17OHP 10 ng/dl.  This showed her oversuppression and resulted in the lowering of her dosages.  She was on 6.25 mg of HC and .3mg of florinef and is now on .2mg of florinef and 5 mg of HC.  We are taking tests again soon because the doctor said when the kidneys mature, they can mature very quickly and the florinef will probably be reduced again.  She also said to check the levels every 4 weeks after a change in medication instead of the regular three months but that also, in this case, especially since she is the "unknown" at the moment we need to really be on top of her meds.  She said the DNA doesn’t change the fact that she has CAH, obviously, it is simply interesting from a research aspect as well as it might be helpful for our having other children.  Since every CAH person is different and has a "tailored" medication regimine due to SV behaving more like SW and vice versa, only the regular testing can say what your child needs.

In my own opinion, to toss into the works: Since DNA and the mapping/sequencing of genes is relatively new, CAH patients probably had the same mutation as my little girl for a long time, it’s just that they weren’t DNA tested.  Especially if it turns out to be more mild than expected.  I could be wrong but DNA is playing a bit of a catch up and the collection of their data is just starting as opposed to having years and years of vaulted information for comparison.

Good luck to you and I will be praying and waiting for your updates,

Rebecca