Hi Amber,

I emailed you with my phone number. I can sympathize with your feeling like a mistake is still being made but if the DNA shows that he has CAH then he most likely does. Doesn’t mean that maybe a mistake wasn’t made but if you feel that way, the simple solution is to go to a different doctor or maybe a pediatrician or a genetic counselor you pick and ask them to send blood to a different lab. I believe there is one in OK that does CAH DNA tests.  I had two different labs do the results because I wanted to be sure that one didn’t make a mistake. I used Dr. New’s lab and I used the one in OK. I didn’t tell either of them that I was getting two from separate labs. I wanted it to be completely separate so I could then compare the results.  The results were the same on both.

 My DNA tests on my 4th son took a very long time. I want to say 6 weeks or so because they want to double check it when it comes back that they do have CAH. For my 4th son, I only used Dr. New’ lab. He had the same Intron 2 Exon 4 mutations that my other son had.  The funny, well not really, thing is that my 4th son passed the newborn screen!!!! I couldn’t believe it. To this day the state of Texas does not have my 4th son in their records as having CAH.  Yet, he does have it.

Also, in the medical community, especially in the more specialized areas, most doctors know each other or of each other.  I doubt if they would jeopardize themselves just to be buddy buddy with another doctor.  Even with that said, I would suggest that if you feel like a mistake was still made, get another DNA test and see if the results are the same.  Did you ask Dr. New’s office how many times they ran the tests?

I mean you have to find answers. What is the alternative? If you take your son of the meds because you feel all of the doctors and tests are wrong and then he has a crisis and dies....you will never forgive yourself. So, I think, if I were you, I would get another opinion and another DNA test.  At some point though, if the DNA comes back again showing that he does have CAH, you will have to accept it and move on. Your child will be fine, if treated properly and monitored by the doctors properly and as long as you are educated on what to do in case of emergencies. 

Call me anytime.

Sandra