Hi Bethany,

Sorry to hear about the lost labs. Very frustrating. Sandra’s message re: genetic testing was very complete so I’ll just agree with everything she said.

One thing I wanted to add  . . . I think it is very good that your dr. is being cautious about reducing or eliminating your daughter’s meds.

It is very possible to have SW CAH and not have symptoms prior to crisis. My son was also very big and healthy at birth (nearly 10 pounds too) . He didn’t have any signs of adrenal stress or crisis. We had no idea anything was wrong until the newborn screening came back when he was 7 days old. They did a quick check on his sodium and potassium and immediately admitted him to our local Children’s Hospital. They said his potassium was so out of wack we were lucky he didn’t have heart damage. They also mentioned that his levels were bad enough that he would most likely have had a crisis within the next few days and very likely would have died.

I’m not trying to be scary here. With treatment, our son has continued to be a "big, healthy baby". He is now almost five and has been through many illnesses and accidents and never had a crisis. He is monitored closely by a pediatric endocrinologist and takes both Cortef and Florinef.

I guess I am posting in support of your dr.’s cautious approach. CAH is a very manageable condition, but it can also be very deadly without treatment. You only mentioned taking her off the florinef, so I don’t know if your dr. is thinking of taking her off Cortef too. Genetic testing would eliminate the need to risk adrenal crisis.

- Hope it all gets straightened out for you. (And congratulations on your new baby!)