This is a question for Lou Lou: Hello, my name is Nikole and I am a mom of soon-to-be four kids. We have a 5 year old daughter with CF (delta F508 and 711+1G>T), a 3 year old daughter with negative sweat test and negative newborn screening, a 1 year old daughter with negative sweat test but Df508 carrier, and we are unexpectedly pregnant with a boy. None of us have ever had genetic counseling and I noticed that you said you have a child that passes sweat tests but has a rare 2nd mutation. I was wondering how important it is that we seek genetic counseling? My 3rd little girl, like I said, is a carrier with negative sweat test, but in the back of my mind, I always worry what if she has a rare mutation that we don't know about. If she were to have CF wouldn't she have both mutations that my daughter has or is there a chance of having a different 2nd mutation? I just always second guess if we should have seeked genetic counseling three years ago when we found out our 5 year old has it. Thanks to you and to anyone else who may have advice.
Nikole
Nikole