I have believed for a long time that there are some carriers that are symptomatic.  I have also worked with some Drs. that believe the same thing.

I suffered through panic attacks when I was going through puberty as well as a severe reaction to any type of metal that touched my skin (especially nickle).  Let’s not forget to mention the excessive sweat gland action and the time I almost died from what they then called disentary (dehydration).  All of these symptoms went away but seemed to return on a very small scale after having my son.

I believe that my current ailments were brought on or exascerbated by the pregnancy and subsequent birth of my CAH son.  It makes sense that the fetus of a CAH child makes different demands on the mother even if it is as simple as the excess testostorone dumping that goes on during the pregnancy not to mention the hormone issues.

I had to have my gall bladder removed shortly after giving birth to him.  My very first stone was discovered when I went in for a fetal ultra sound.  By the time I had my son 7 months later there were so many stones the doctors were stunned.  Over the next several years my health began to fail without a definative diagnoses.  Finally, after nearly going into a coma, my endo diagnosed me with Hashimoto’s disease.  I also have been told I have IBS which I believe may be Celiac Sprue and diabetes mellitus.  I had an endoscopy done and they found a section that was a bit raw so they took a biopsy to rule out cancer.

I have experienced low blood sugar episodes and shooting blood pressure (rapid rises and falls) for no apparent reason and it is very difficult to keep me under anesthisia during surgeries as I seem to hyper-metabolise the meds.  For instance, it took 24 shots in my epidural to have my daughter and for the emergency section with my son, well let’s just say they couldn’t keep me numb so they had to opt for speed.

The latest diagnosis is Lichen Sclorosis which is another auto immune disease with the potential of becoming cancerous.  I recently had the cancerous areas removed but must be on lifelong regiment since there is little chance of going into remission.

Aside from the concerns with my CAH son, I am worried about my carrier daughter.  She is going into puberty and is beginning to experience ALL the symptoms I exhibited as a child.  I have been able to help her cope a little bit but it breaks my heart to think that she may have to experience what I went through.

I urge all of you to keep your eyes open for studies on these things and volunteer to be included in them.  A couple of years ago there was a study closely relating to the carrier status of CAH but I was disqualified due to the fact that I was on meds for my Hashimoto’s and they felt it would interfere with the results.

My gyno told me that they are even teaching students in college that carriers can become symptomatic depending on stress levels, other genetic defect alignments and medications.

I have been looking for other studies to get involved with but nothing comes up as of late.  I DO believe we are on to something here.  Let’s keep looking if not for ourselves then for our children.....and their children.