Hi Macarena,

Well, I am so sorry that you are now having to deal with this all over again!! Jackson at four months was very cushingoid when I took him to see Dr. New. He was on 7mg per day. Dr. New cut it in half and except for a few minor adjustments in his meds he is doing great.

We also had DNA done at Dr. New’s and found out that my son inherited an Intron 2 from me (associated with SV CAH) and an Exon 4 (associated with SW) from my husband. The SV wins out and it turned out after some salt deprivation tests that  he was not a SW rather a SV.

I’ve never heard of the mutation you named? It must be a name they use for it there.

Now, I know of a family whose son was born here in TX then they moved to Louisiana. At first they were told that their son was a saltwaster and started on the meds. However he didn’t have any of the regular problems. He was simply picked up like my son through newborn screening and started on meds at about a month old with no symptoms. Anyway, they went to see a new endocrinologist who questioned if this little boy had CAH after all. What the endo discovered was that the boy did have NON Classical CAH but that it didn’t warrant any treatment.   He is completely off the meds waiting for more testing. The mother is worried now what to think. All they can do is run the tests again. They haven’t done any DNA but I believe she wanted to to find out if they genotype and phenotype matched. If you want I can see if she would be interested in emailing with you. Also there is a lady in Turkey who has a son that was treated for a few years then he was found not to have CAH rather an immature adrenal gland or system which "corrected" itself". Keep in mind I don’t know  much of the details of this little boy but I talk to the mom occasionally and she said that he is doing  great!!

So, what to do...I think that maybe you should consider the trip to NY like you were saying. If anything to get one more opinion and maybe get DNA done there. At Cornell they did say that the DNA is about 95% accurate, meaning mutations are not detected  in approximately 5% of the 21 Hydroxylase genes.  The errors could be as a "result of technical difficulties including, sample mixups, erroneous paternity identification, and genotyping errors. Genotyping errors can result from trace contamination of PCR reactions, from maternal contamination of fetal samples, from rare genetic variations which interfere with analysis and from other sources" This is what it says on our DNA report.

Hope it helps,

Sandra