R117h

[aphillips]

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.

 

[toria]

I sent you a private message. There is such hope with a child born with this mutation. Advances I never thought would happen in my lifetime. Kalydeco is FDA approved for this mutation. Now to get insurance approval and keep your son healthy until he is old enough to take it. You may not feel like it now, but you are a lucky mother.