Ryan’s original due date is tomorrow, January 15th.  The last blood was drawn on January 6th and we just got the results today, which are what I posted in the first message.  He was born on October 26 and started hydrocortisone December 5.  His first 17 ohp level was 22,000; second was 13,000, and third was 17,000 (all taken in the first month of his life).  The endo’s original thinking was that since his 17 ohp level was so high, it couldn’t hurt to give him a boost with hydrocortisone.  Once he got older and his body kicked in, we would stop the treatment.  Because Ryan had so much blood drawn over the first few weeks of life to monitor his health in general, his blood levels were low and the neo would not let us take anymore or a transfusion would have been needed.  So, the endo suggested genetic testing for my wife and I to "rule out" CAH and ensure us this would correct as he got older.  Well, low and behold, the genetic testing showed each of us had a mutation.  The endo then said that given his 17 ohp results combined with the genetic testing results, it is very likely he has CAH.  Ryan’s blood was tested multiple times over the first five weeks of his life and his sodium and potassium were both in the normal ranges (he has never been ill at all and progressed wonderfully in the NICU and was released earlier than had been expected), so she felt it was more than likely SV CAH.  She ordered the first blood draw since beginning hydrocortisone on Jan 6, which was the above mentioned results.  The ped says he does not think taking more blood is possible for a couple months unless absolutely necessary due to low blood count.  Therefore, the endo said let’s plan on doing genetic testing on Ryan in March when his blood levels have improved.  She said that even if we found out he didn’t have it, treatment for 3 months would not hurt anything. 

When I got home, I began to read what had to be thousands of archived posts on this wonderful website and knew the desired range to be 500-1000 ng/dl for most children, which led me to believe a preemie would come back near the 1000 or higher range.  I also started to read about the negetive affects of oversuppression, especially in infants.  Getting the result of 48 makes me think on one hand--great, he may not actually have this.  But on the other, am I doing damage to my son by over-medicating him???  Maybe two to three months of this would have no affect as my endo says.  But I would never forgive myself if it does. 

One other question:  Will they be able to tell for sure that Ryan has this through genetic testing of his blood?  Are they able to distinguish between a carrier and someone who has it?  I ask because my result said I carry the "intron 2" mutation.  If his result come back saying he has the "intron 2" mutation, are they able to distinguish between someone who is a carrier verses someone who has CAH?

Thanks for reading and any comments are appreciated.