R117h

My son is almost 3 and was found to have the mutant R117H 7t/9t in his newborn screen (kansas does the most common 40). We did a sweat test at 3-4wks old and it was negative. Since then we have struggled acid reflux as a baby and ongoing diarrhea. And frequently episodes of croup as well as him throwing up mucus. He snores as an infant. I do feel like he tastes salty now. At least compared to his sister's. After reading up on this particular mutation I wasn't sure if it would be worth pushing for full DNA testing to see if he has a rarer gene.
Source: Cystic Fibrosis Families Forum - Category: Respiratory Medicine Authors: Tags: Families Source Type: forums