Hi Doug,

 

You e-mail was very touching, you are truly a strong person.  Like you, my wife and I had no Idea that we were both recessive carriers of the CAH gene, and like you had never heard of the condition before. We were shocked when our 3rd daughter was born with CAH (our other 2 are recessive carriers).  Doctors and nurses rarely come across this genetic condition.  We were lucky that the endocrinologist (sp?) was knowledgible and noticed the adrenal crisis and took a proactive approach even prior to the confirming test came back.  She was born full term so stood a good chance of survival.  She is on regular hormone replacement and salt additive she is doing really great.  Our first hospital in NJ was very good (asside from the interns learning about the condition from her (which was probably a good thing).  Childrens hospital of Philadelphia (CHOPs) was wonderful.

 

God Bless

John G   

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