As you may remember, my 2nd daughter, Quinn was elated when Dr. New said that from her genetic testing that she has only one LOCAH defective gene.  She does not have CAH !!  YAAHOOWEE!!   We have been weaning her off 8 years of Cortef.  However, today, after further sequencing of Quinn’s blood, they found that Quinn has another mutation on Exon 10.  An exon is a piece of a gene, in this case the CAH gene.  Sequencing doesn’t tell them if its on the same CAH gene as her other mutation (the non classical one).  She could have one affected gene that has 2 mutations (exon 7 and exon 10) and one good gene.  This would make her a carrier.  She could have one nonclassical gene with the exon 7 mutation and one gene with the exon 10 mutation, this would make her a nonclassical affected patient.

This is all so confusing!!!  What is an exon, what does it do to your body?  Does anyone have any "normal" knowledge about this stuff?