I’ve been having trouble getting this posted, but I’ll try for the 3rd time!!

Tom & I went to see our genetic counselor in Madison, WI yesterday to find out final results on our children’s genetic testing from Dr. New and to give our labs for our genetic testing.

Initially, Dr. New found that Rachel 16yr and Clark 10yr has an defect on one gene called Exon 4 (Simple Virilizing) and Exon 7 (Late on-set).  However, they only found one mutation on Quinn 13yr, Exon 7 (Late on-set).  They told me to wean Quinn off meds which we have been trying to do for 2 months.  Dr. New finally got their sequencing machine in operation and found that Quinn does have a 2nd mutation on Exon 10, so she does have LOCAH.  Between the 3 kids, there are 3 different mutations, meaning that Tom or I are one a carrier, and the other must have 2 mutations making one of us having LOCAH.  This is all very interesting.

We learned ALOT about CAH yesterday from the genetic counselor.  Most folks are put into either one of the three catagories;  Classic, Simple Virilizing or Late on-set and are treated according to those 3 catagories.  However, there are actually (to date) 68 variations/degrees of mutated genes that make up CAH.   

Classic                                               Simple Viril.                                            Late on-set

+_____+_______+______+______+_______+_______+_________+___+

Imagine there are 68 (+) marks on the above line.  Some are a little or less combined with the other.  Rachel & Clark are actually #48 on the line, a combination of Simple viril and LOCAH.  Quinn’s variation on the line hasn’t even been established yet because not even folks with a mutated Exon 10 have been recorded.   Diagnosis of genetic disorders and treatment thereof are so new, that our physicians just don’t know enough yet.  We all have to educate ourselves and help to educate our physicians!!!