Hi,

Yes, I did think my son was misdiagnosed in the beginning. My son’s CAH was detected through our newborn screening. His first newborn was slightly abnormal and the state nurse told me not to worry that it would probably clear up. Well, it didn’t. We went ahead and did other 17ohp’s the second screen and checked electrolytes etc... His electrolytes are first were thought to be out of whack but it turns out they didn’t do it right and when they did, his electrolytes were fine.

On a Friday afternoon the ped called me and told me to bring my son in ASAP and that he may need to be admitted to the hospital depending on what the ped endo thought. Well, to make a long story short, the ped endo told me to wait until Monday and bring him in. Of course they told me if he so much as spit up or was sleeping too much to take him immediately to the hospital. Well, what newborn doesn’t spit up!! I had two older boys that were born in a different state that didn’t do newborn screen for CAH. I was already panicing not knowing really anything about CAH. I was hysterical for a long while. I sat at my computer holding the baby reading and reading and asking questions of every parent that would answer. After lots of reading, I started to wonder if my son has SWCAH as my endo had said. He had never had any problems eating, sleeping. No kind of crisis ever or even close to one. He has been circumsized at the hospital and that scared me but he was fine. Now, I know that some CAH kids can be fine and then all of a sudden have a crisis. Regardless though, I wanted to prove that maybe he had the least severe kind of CAH and maybe he didn’t need medication or that he didn’t have CAH at all. He had started medication at 4 weeks old.  At three month or so, I decided to go see Dr. New in NY. The baby and I traveled from TX to NY right after Sept 11th to see Dr. New.  By this time they had already done DNA and found that he did have CAH but his "mutations" were consistent with SV CAH not SWCAH. When we got to NY, Dr. New took him off of his florinef and cut his cortef in half. He was very cushingoid!  To make a long story short we left with a new diagnosis of SVCAH. I was dissapointed and excited at the same time. I didn’t want him to have CAH at all but SVCAH I guess to me was  a little better.

To me the DNA was the definiative diagnosis tool. I couldn’t not believe it. As time went on, I came to realize that maybe labels are that important when it comes to CAH because Jackson seems to have a mild case. There are some SW that act as SV and some NC’s that act maybe even like a SW. 

If you are in doubt I would suggest that you not give up trying to find out if the diagnosis is correct. I know of a mom in Turkey whose son was believed to have CAH and they treated him for a few years. They had to keep decreasing his cortef until the mom went to see another doctor who told her that her son didn’t have CAH rather just immature adrenal glands. The mom never had DNA and never had stim tests done but the boy is doing well last time I spoke with the mom. Like I said before, I can’t deny it because I know the DNA is there. 

You need to make sure that when they are diangosing your child, get an ACTH stim test as Julia said and a DNA test. I did mine, my son’s and my husbands through Cornell. I believe there are  a few others that are a little less expensive.

If you child does turn out to have CAH, try not to worry too much. My little guy is almost 2 and is doing absolutely wonderful!!!!! 

Good Luck,

Sandra