Hi Tom,

I agree with Carol that you should concentrate on diagnosis first because at this point the genetic answers or lack of are academic.  My son has congenital adrenal hypoplasia(no adrenal cortex development).  This is only passed on down the mothers side so when we discovered that there were some infant deaths in  her grandmothers side of the family pre 1950 everything seemed to fit.  However, the genetic test showed a different form of CAHypoplasia from that carried by the family and apparently a novile mutation occured instead.  I have always been sceptical about this because the chances of a novile CAHypoplasia mutauion in a family with CAHypoplasia must be amazing but then I was always weak in genetics.  Given the fact that he also had another novile mutation for some type of craniosynostosis(original diagnosis wrong) he hit the jackpot for being unlucky although the lucky stars have been keeping an eye on him ever since.

Keep doing what you are doing by increasing your knowledge base because unfortunetely in rare cases like we all experience here the expert knowledge base is poor and you will be your sons best and sometimes only advocate.  If you find an endo without a glazed look and one who is willing to do some research or will accept your research apply superglue because it can be frustrating listening to doctors trying to sound convincing. TC

ShaunP.