Hello all!

I have not been on this board for a few years. I have a 7 1/2 year old boy with SWCAH and he has been through alot. 14 hospitalizations due to adrenal crises in the first 5 years of his life. If he misses a single dose of medication he has a crisis even if the next dose is given 8 hours later. We have had to double dose and have even had to give him half tablet doses sometimes when he starts  feeling poorly. Our first pre-crisis sign for him is a "headache" and sometimes his color changes to a pale gray. We know him like a book and once we give the extra dose he returns to his normal self. Our Endocrinologist has been the head of pediatric Endocrinolgy at Duke University. We now go to his partner and they both are perplexed about our son. He has always been on a very high dose of hydrocortisone (7.5mg am, 5mg at 3pm and 5mg at 11 pm) since he was 5 years old. They don’t understand the "dips" he has and the fact that he has always grown at a very nice rate (he is now4 ft 6 in). His renin level is great, 17-OHP is always well supressed, sodium level and a few other labs that they do are all "normal" His bone age which we have done every 6months is always on target with his age. A few weeks ago we had his 6 month appt and our new Endo discussed getting genetic testing for him to see if he has some other form of CAH. She has never seen or heard of a child like him.

Like I said, I have not been on the board in a very long while so I wanted to know what new genetic testing there is. I also really wanted to know if anyone has a child who sweats a lot. My husband sweats a lot but it seems like my son has gotten worse in the last year. We do live in the south but I can tell my son has changed.

We have a lot of experience with CAH , the meds and giving the solu-Cortef injection. My son even coded when he was 1 year old during a crisis and due to a slack Endocrinologist. So, if anyone has any qustions we will try to help.

I am also a hospital pharmacist.