Dear Elise,

My daughter, now 9-1/2, was diagnosed when she was 7 with non-classical CAH and had symptoms similar to the ones you are describing. First of all, the non-classical also known as late onset form of CAH is relatively easy to treat does not carry with it many of the more serious and and life-threatening  symptoms of the salt-wasting classical form. While it affects the quality of life of those affected, it can be treated and controlled with medication and with few if any side effects.

I hope you are being seen by a board certified pediatric endocrinologist with experience caring for children with CAH and NCCAH. This is very important! You may call me for a recommendation if you need one. I have created a web site, www.caresfoundation.org. and am in the process of getting together a list of doctors with experience treating CAH in the US.

The ACTH stim test does not hurt, but both of my kids fainted after the ACTH hormone was injected. They were fine, but I was a little shaken up. Just be prepared to catch them and watch out for signs of fainting like clammy skin, upset stomach and dizziness and turning white in the face. The test consists of drawing a base blood sample, then they inject the hormone, then you wait one hour and they draw another sample of blood to compare the results. You might ask the nurse to put in an IV so your child does not need to be poked so many times. They will probably want to do a DNA test as a back-up. My daughter's doctor, Dr. Maria New, tested the DNA of everyone in the family because you will want to know whether anyone carries the classic CAH gene.

The bone age does not alarm me. My daugther's bone age was almost 2 years advanced and with treatment, the gap has narrowed substantially.

There really aren't side effects with the cortef. Your daughter will be given a replacement dose--what her body is not able to absorb from the blood. So, it does not carry with it the kinds of side effects one normally associates with steroid treatement. Until my daughter's dose was optimized, she had an increase in appetite and gained a little weight, but that leveled off once the docs found her optimal dose.

Send me an email with your phone number to caresfoundation@home.com and I will call you if you want to talk. Or leave me a message on the CARES voicemail at 973-912-3895. Check out my web site, too. It might answer some of your questions.

Good Luck and let me know if I can help in any way.

Kelly Leight