Risty,

In my opinion, your son may have responded so dramatically to this single dose because he was so cortisol deprived from being off treatment that this was, in effect, like a stress dose.  I saw something similar happen with my son once, when his dose was erroneously calculated, resulting in him getting only HALF the amount of hydrocortisone that he should have been getting for a period of about 8 weeks. 

As for not stress dosing him in the future, because he did okay this time around:  Cortisol needs rise in all people during illness....sometimes up to 5-10 times the normal amount.  Your son has CAH.  Since you acknowledge that he seemed to do quite poorly off treatment, I think it’s reasonable to assume that his CAH is severe enough where he may be unable to mount a sufficient cortisol response on his own during illness. 

Yes, it’s quite possible that he could get over the next illness without stress dosing, and perhaps even the illness after that and the one after that.  I guess how long you go on without stress dosing, KNOWING that your child is cortisol deficient, depends on how comfortable you feel playing Russian Roulette.

I agree that you are lucky that you live in a state that has newborn screening for CAH.  But what I find a bit ironic is that a child who the system was designed to protect, was purposefully taken off treatment, and denied the benefits of having this system in place.  In other words, what good is having this system if a doctor purposefully decides to ignore it anyway? 

I agree that there are situations where a child may not need treatment right away.  But those are the children who are probably not going to be identified through newborn screening, anyway.  Neither are those the children who will have high 17-ohp levels or possible electrolyte abnormalities at birth, like your son.  I know your son was taken off treatment because of the particular mutation that he carried.  But, if a child shows signs of mild salt-wasting at birth, I’m not sure I agree that treatment should be denied just because he’s not SUPPOSED to have those symptoms. 

I will be very honest and say that I have been quite alarmed at the way that you have described your son over these last numbers of weeks, since he has been ordered off treatment.....constant fevers, diarrhea to the point of blood in his stools, sleeping like a newborn, no desire to crawl or stand.   I sincerely hope that he does a quick turnaround, now that he is back on medication.  If not, I hope you will seek out another doctor, asap, and get him evaluated.