LisaHi Louise,
We moved and I have been without internet access for almost a month. I was catching up and read your posts. We tested Alec’s DNA and did a stimulation test when he was 6 months old. I am dissapointed that his first endo. did not do the stim. test originally. Because his new endo was concerned about taking him off med’s without medical supervision, we only took him off for twelve hours before doing the stim test. Our reason for doing the DNA and the stim. test was to try and determine if Alec is a s.w. or s.v. The DNA test was not conclusive because the DNA analysis determined that my husband carries the salt-wasting gene and I carry the non-salt wasting gene. Also the stim. test and the nomogram plotted Alec in the top of the range for non-salt wasting but since he had only been off the cortef for twelve hours it’s hard to know how much higher his 17ohp would have been. I think sometimes the DNA tests are much more conclusive. In Alec’s case it made his diagnosis of CAH very diffinitive. Also, since we now think he is losing some salt and have put him on a low dose of florinef we have been able to lower his daily dose of cortef from 10mg per day to 3.75 mg per day and his "cushy" effects have decreased tremendously. I think if I had it to do over and if I were trying to make your decision I would start with the DNA testing then if there are still unanswered questions maybe go forward with the stim. test. Just my 2 cents. It took almost three weeks for us to get the DNA results. Ours was sent to Cornell.
I’m sorry this is so stressful and there are so many unanswered questions. Feel free to e-mail anytime and will pray for Joey and for wisdom for you.
Lisa