Hi Laura, my only suggestion would be to try and find an e-mail for someone in NIH endocrine or pediatric endocrine department and see what you come up with.  They are a federal department so should be relatively accessable.

Genetics is a mine field because the more they find out the more complex the issues become.  I have always pictured a genetic problem as bell curve.  So in Liam's case with CAHypoplasia I see him as falling somewhere on that curve.  Doctors will treat our kids as if they fall on the top end of the curve and generally do not spend the time fine tuning it.  I n Liam's case I see him to the left and down the curve a bit from a management point of view..  We have not had one problem with Liam relating to illness or anything close to a crisis and he has been to his local doctor less times than all three of his cousins put together.  He has craniosynostosis which we have always thought was a different issue but I have seen research and picture of a CAHypoplasia child who looked like Liam from a cranio facial stand point.  So looking at the bell curve analogy he would have to be to the right and down  the curve because most CAHypoplasia kids do not have the cranio-facial problem.  Others can loose their hearing by the time they are a teenager or will most probably be sterile.  Generally speaking when a mutation occures it seems to affect more than one gene and as I see it those knock on effects govern the severity of a condition by changing seemily insignificant things like certain protiens and enzymes and their interactions.

The way the research is going the only result seems to be more complications and even more questions that clouds the issue more.  The result is conservative management because the research base to answer these questions for CAH related conditions is pitifully small.  Unfortunetly, the number of CAH sufferers is too small  and the condition to obscure for young doctors to focus energy on it.  The other consequence is that the same old faces dominate the research and thinking behind the condition and the envelope is not challenged beyond what has become conventional wisdom.  I have seen this with Liam's CAHypoplasia which is much rarer that CAHyperplasia and his craniosynostosis diagnosis which was labelled as Phiffer's syndrom but any rudimentary research clearly shows this diagnosis as wrong.  If I have some more time later today I will put forward my opinions on the mood debate above.TC

ShaunP.