My son was born 3-months prematurely.  His newborn screening indicated he might have CAH.  We began treatment 8-days after he was born, and he has never had any episodes.  His dosages are identical to when he was in the NICU weighing less than 5 pounds.  Now at 10-months he weighs over 20 pounds.  He gets blood tests every other month, and his 17 alpha-hydroxyprogesterone levels have been consistently low - less than 100. 

We had wanted try weaning him off or reducing his medications some time ago.  Given his preemie status, our endocrinologist suggesting waiting until he was a year old and medically stable.  Outside of the CAH, his medical condition is now superb.   Recently, we stopped giving him sodium chloride - although he still gets florinef and hydrocortisone.  Again, no change in blood test results.

The CAH diagnosis has been very confusing to us.  He has not been officially diagnosed and we are unclear how that occurs since he hasn’t really had a crisis to confirm - and we’ve been told the newborn screenings might be inaccurate for preemies.   Is the only way to wean off meds and see if his blood test results change?

Could genetic testing be done?  If so,  what specifically tests do we need to do?  Could the testing just be done on just me (the father) to see if I’m a carrier? or do we need to do it on him as well.  The complicating component is that is infeasible to do genetic testing on his biological mother.

I’d love to hear any suggestions.

Thanks

Bill