We got our DNA tested when we signed on for the study on CAH with Dr. New at Cornell.  I cried all day when I found out that my daughter was a carrier of my husband’s strain of SWCAH.  I just knew in my heart that being a carrier of some of the more serious strains could eventually become a problem health wise for the carrier.

I signed up for the more recent study from Yale based out of the VA Hosp. here in CT but was no able to participate due to some of the meds I am on for my Hashimoto’s disease and previously diagnosed depression.

The studies that I have seen results on have shown that CAHer’s do produce hormones differently.  The one at Yale is stimulating with ACTH to see how carrier’s process stress.  I think I already know the outcome.

The findings of these studies shouldn’t end here.  If it is pr oven that, without a doubt, that carrier’s process stress differently than the "normal" person, something should be done about a treatment. 

But what?  The treatment that is being used for the CAHer’s now isn’t even stellar.  The ped endos aren’t all on the same page and there probably isn’t even one treatment that is the same for another child with the same statistics.

This is just the beginning.

I can’t answer your question Jessica because I think it is a personal decision,  and needs to be made individually.  I just think that knowing the exact name of the strain or strains that our children have is at least one step in getting on top of an otherwise frustrating disorder.  I am using the information in sending out the information to all of my relatives as far back as I can go and my husband’s relatives as far back as they go (some are in Checklslovakia).

But for now Jessica, I don’t think there is any rush.  I have just always had this weight on my shoulders telling me that it was my responsibility to tell other family members of the risk before any other CAH children are lost due to lack of knowledge.

Both my Mother and Mother-in-law were tested and we found out that my Father’s side carries the gene and my Mother-in-law carries it from her side.  This narrows the field down.

When my sister-in-law began to get very sick (she hasn’t been tested yet) I began to suspect that she had an adrenal problem.  Her skin was unusually tan, even in the winter, her heart was having problems and she did not handle stress very well.  I told her she needed to get tested but (even though she was a nurse who worked at Yale’s ped endo dept.) she never did.  Recently, she had a complete adrenal shut down.  She was rushed to the hospital and is now taking cortef and florinef.  They still haven’t tested her DNA for CAH.  The good news is that she has never felt better in her life.  Her son is beginning to show signs of CAH untreated and I will keep you posted.