miller23

Long story short-

I am positive for R117H mutation only. My husband had a neg test result using the smallest mutation panel. This was over 2 years ago and the doc said don't worry about it and we had our first daughter. Now, pregnant with daughter #2. I have been going for ultrasound every week since 20 weeks (i'm 35 weeks now) because of a lung mass (very rare to have and nothing to do with CF). Last week they noticed something with the bowel they can't explain (they see part of it and shouldn't) and they have seen a small calcification indicating that there was a bowel perforation that has healed inutero. In looking this up I see CF as a possible cause! Being that I know I am a carrier I am scared! My husband can still be a carrier and will be tested and we won't know the results for a long 10 days. Having a rare lung mass AND CF would probably be worse odds than winning the lotto but i don't believe in statistics anymore!

When I read about R117H they say if the reflex test does not indicate the 5T allele then the CF could be mild, asymtomatic or they don't really know what will happen. I was neg for the 5T allele, mine is on 7T. Does anyone have this mutation?

I'm so scared. The last 4 months of not knowing whether or not this mass would cause heart failure has been rough. Now, we finally have good news that the mass has shrunk and should not cause major issues at birth and surgery should be done at 6 weeks of age. But now we have to deal with CF uncertainty!

Any info on R117H is appreciated as it seems to be an interesting mutation.

Leanne