annemarie

i will tell you that my son is fine, no problems.  no meds are working great for him, he is staying steady on the growth chart.  no stress dosing. no nothing he is completely normal.

kids with non classic cah are often not treated until they have symptoms.  the peds dr. was not even going to send my son to the endo, until we requested it. our son only tested pos. on the second newborn screen and it was only 2 points higher than the cut off.  the pediatrician and the peds endo both said that the newborn screen was not high enough to worry with and that it was false pos.  but when we explained that my husband had cah they decided to see us.  as a result of that we had genetic testing on all of us to confirm what type of cah we were dealing with. it confirmed non classic.  the peds endo thinks a lot like you once you have a diagnosis you have to be on meds, but that is not true.  that is why we took him to see dr. new in new york she is one of the leading experts on cah.  his last 17-ohp off meds was 190 which is actually high for a noncah patient, but low for a cah patient.  as a fact of my son being on meds even though his body didn’t need it yet, he has lost some height, and they are unsure that he will get it back.  there are a fair number of problems with being over treated some of them being short statue, stomach ulcers and osteoporosis.  which we are very familiar with since my husband was over treated when he was a child.  my husband who is 33 has the bones of a 65 yr. old women and had to take meds for osteoporosis.  there is a fine line between over treatment and under treatment.  there are more children being over treated than under treated, because they always say it is better to give than not to give. 

not all cah patient can not be off meds, but in our case we would be doing our son more damage than good to have him on meds.  his body is still making enough cortisol so he doesn’t need the meds at this point. 

i hope that i have enlighten you some on nonclassic cah. like i said before the newborn screening test are designed to pick up swcah, but they are trying to broaden the test to pick up nonclassic cah kids.  so that they don’t have to go through puberty early and then get diagnosed when they are 5 or 8 or whatever age.  by us knowing about our son we can keep a close eye on him and make sure that things don’t get out of hand.  by my husband and i both being in the medical profession ourselves, i can assure that our son is getting the best and the most up to date care around.

tonya