Just thought I would post an update on the continuing saga of my 2 1/2 year old son.

A recap . . . He was diagnosed with CAH s.w. at birth, was put immediately on Cortef and Florinef. He was in good control for about a year, then was on a rollercoaster between over and undersuppression while on the defective liquid Cortef. Since switching to pills last spring he has been oversuppressed and we have continuously lowered his dose of Cortef. He is currently on 2.5mg/day. Yes. that is 2.5mg/day - no typo.

Of course this low dose has me terrified that he is being undersuppressed, or, that he was misdiagnosed. However, all his labs keep coming back oversuppressed (and he has clinical signs of slight oversuppression).

Well, we got the results of genetic testing today. They show that he does in fact have CAH (both my husband and myself were found to be carriers). It was just a one page sheet. I am going to call to get more info -but it does seem that all is consistent with his diagnosis of CAH.

The good news - At least the genetic test is consistent with his diagnosis and treatment. Also, it appears he may have a mild case as we have survived 2 flu's and many colds with no crisis. He is growing well, developing fine, and in general seems to be thriving.

The bad news - he is on such a low dose I still worry that we are missing something. I pray we will not discover he has somehow been undersuppressed or mis-treated this whole time.

I really want to thank you all for your support and informative responses. I have been posting after every med reduction - just searching for answers - and you guys have been great.

He just had another blood draw on Friday. We should have the results next week. This time they are also checking cortisol. Maybe we will learn something new.

As always - if anyone's child is on a very lose dose and you want to talk, please email me.