Tuesday, October 22, 2013
Cogenital Adrenal Hyperplasia
I wrote last week that we were waiting for Ginny's lab results to come back to help explain her abnormal hormone levels. Originally, I thought we would have to wait until her follow up appointment in November, but the doctor called today.
Her 17 OHP levels were very high and her cortisol levels were very low confirming a diagnosis of Congenital Adrenal Hyperplasia. The good news is that she does not have the more severe form where the salts needed to stabilize the body end up dangerously low without regulation. She has a more simplified form and is able to regulate her salts and enzymes on her own. This still means, however, that her body does not make cortisol as it should and she will need cortisol replacement for the rest of her life. One half of a tiny pill, three times a day.
In the grand scheme of things, this is good news. We will be able to manage her condition with easily obtainable, inexpensive hydrocortisone. Her endocrinologist is very positive and confident that we can get this figured out.
It's tough news, but good news. It is just who she is and what she needs.