Hi!

My son was diagnosed with CAH early this year and at the time I researched everything until I was blue in the face. My life at that time was filled with many ups and downs and learning about CAH took a back burner. I was comfortable with the care my son was getting and only wanted our lives to return to normal. However I feel overwhelmed now with my lack of understanding.

Here’s our story:

Around 7 yrs of age I noticed acne and bad odor on my son. My pediatrican at the time (I have since switched) recommended I see a dermatologist. I did not follow this through at the time because my mom had been hospitalized with a terminal illness.

Just before his 8th birthday, I noticed pubic hair and hightailed our butts to an endocrinologist. After confirming the CAH diagnosis, he was placed on 10mg of cortef. His bone age was advanced at 12.6 yrs. After his 3 month FU he was placed on 15mg of cortef. At his 6 month FU his doctor was pleased with his progress and didn’t want to change a thing. His bone age was now at 13 yrs and the doctor explained that this was perfectly normal... 6 mos. of chronological age = 6 mos. of bone age. I questioned his weight gain (8 lbs. in such a short period of time) and was told that she would monitor that in FU visits.

Well, here’s the thing. I am no longer comfortable with all of this. I am the only one that notices all the changes in his body. I see that he has developed broader shoulders and has filled out in his tush area and legs. The doctor has assured me that he is on such a low dose of steroid and there should be no effect but I see the changes including his bigger appetite.

I am frustrated at the lack of information out there especially for non-classical CAH. I fear that too much time will pass and it will be too late to help my son. I need to take a more aggressive approach in my son’s care and am asking for any help and advice that you may all have. I would love to talk with any of you who have a boy with non-classical CAH.

I am requesting copies of blood work from my doctor as well as getting height predictions and discussing growth hormones. I am also considering going for a second opinion. I never wanted this disease to consume our lives but I realize now how little I really know.

Thanks for letting me vent. Hope to hear from you soon.

Jacki