melanie

i just wanted to follow up with you.  i think that it is important for you to follow up with more testing.  i know that in our state, the newborn screen test was suppose to be 30 or less. all states numbers are some what different.  my son’s was only 35.  i can tell that if your son was a saltloser his number would have been higher.  those are the babies that the test was designed for.  so your child does not have the serious form of cah.  i felt important to say that, because everything that roberta says is right.  but it is more true for saltlosers than children that have nonclassic.  i know after reading robertas note, it would almost make me want to run to the nearest doctor.  but i don’t think that is the case for you, yes i think that you need to have follow up test.  i will tell you that the next test that they will usually do is a 17 hydroxyprogesterone, well i just wanted you to know that my sons was normal.  but i instanced to see a peds ednocrinologist and they did what they can a cortsol stimulation test and they suggested that we have the genetic testing then.  so we did it, they will only need your son’s blood to begin with.  if he has the disorder then you might want to have your’s and your husbands genetic done.  we just decided that we wanted the genetic testing, because it seemed like eveyone was blowing us off, as worried parents. we were sort of like you they said "oh it never comes back positive after being neg" then my sons came back pos.  then they said" oh it is just an error"  so they had it done again, it was still slightly high.  so then that is when they did the 17 hydroxyprogrestone test, which came back normal.  at this time i just wanted to have some sort of an answer.  my son has cah but he is a nonclassic kid, he is on no meds.  but i am glad that we know that he has it and that at somepoint in his life he will need meds.  so that we can watch for any signs and things like that.  i think that it is better to already know that for them to diagonis you later. 

i just want to say again that i probably wouldn’t run to the nearest doctor, but i would call my pediatrician and tell them that you would like to have more follow up work.  the tricky thing about cah nonclassic kids is that some days the numbers are the same as a normal person , and sometimes they are slightly elevated.  i know that if you are anything like me i wanted to have the genetic testing done to make sure that it matched with what the doctors were saying.

i wish you the best of luck

if you need to talk some more feel free to email me tjudson@charter.net

take care

tonya