That was wonderful email from Kathy !! I wish that there was a cure for CAH
and doctors knew more about it. Kathy - you were so lucky to have a good
doctor and great parents.
I had genetic testing after our first child was born with CAH. We had blood
taken locally and it was mailed to Dr. Maria New in New York (Cornell
University). Both parents must be carrier or affected or combination. We
were carriers or the severe salt wasting CAH. It is a 25% chance that our
next child would have CAH. I become pregnant again right after the birth of
our son and took dexamethosome (sp?). I had an amnio and it was a girl and
she had CAH. She was born a year after our son. She didn't need any surgery
because I took the dexamethsome. The doctors said it was better results than
they expected. But the endo did not manage her CAH well... for some stupid
reason the doctor thought 6 months appointments were fine. She was thin and
vomited. The stupid doctor thought the vomiting was caused by something
other than CAH (now I know she was wrong). At age 2 1/2 she had a fever - I
called the doctor and said Jessica was had a very high fever - the stupid
doctor said to just double the cortef. I trusted the doctor. I called again
and said that the ped doctor didn't know what to do with the CAH. The stupid
doctor said - stop calling me and just double the cortef. In the morning
Jessica was in shock. I called for an ambulance. In the ER, her heart
stopped and it took them 45 minutes to revive her. It was too long and after
2 days in the PICU she was dead (brain dead). My three year old would say go
back to hospital and get her.. she is awake... and would cry and cry for
her. It was (and is) and nightmare. I become pregnant a month after
Jessica's death and had a son - Adam (with CAH). Adam is going to be 3 years
old in July. And I am pregnant now and it is going to be a boy (due 8
August) and no CAH. I miss Jessia so much. Having another girl would not
replace her.. she was one of a kind.

Roberta