ΔF508 and R334Q

[rvanallen]

I was curious if anyone was familiar with this combo? After some testing by the CF foundation, they discovered these are the mutations my daughter has.

I can't find much online at all. They diagnosed her with CFRMS.

 

[emason]

No experience with r334q but my son has df508 plus a varying consequence mutation (which I believe r334q also is) and he is also dx crms.

He's 4 now and we still are living in diagnostic limbo.