Delta F508 + D797A

We have a recently diagnosed newborn with this rare combination. We have been fortunate enough to speak with several physicians both at Stanford and UCSF, we find ourself facing the great unknown. Our daughter is 6 weeks old, had a positive newborn screening which resulted in the genetic sequencing. Her sweat test came back at 40, clear chest X-ray. normal labs and completely asymptomatic to this point. She is growing normally and had we not had the call from the doctors office, we wouldn't think anything was wrong. I work in a unrelated field of medicine so I was able to get good access to the information available and it doesn't appear that there is a case documented of this mutation combination. We are still awaiting the sequencing on my wife to see if she carries the rare gene as all of her pregnancy testing came back normal (DF508 would have shown up). Until that comes back we are just in a state of limbo since we don't know what this will end of meaning for her health down the road. Just thought we would post to see if there were any other parents in our situation Cheers Z
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums