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R117H mutation?

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Old 12-12-2006, 09:28 AM   #1
Join Date: Dec 2006
Location: nc
Posts: 1
miller23 HB User
R117H mutation?

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.


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Old 12-13-2006, 06:50 AM   #2
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Join Date: Nov 2003
Location: Midwest
Posts: 2,006
Ratatosk HB UserRatatosk HB User
Re: R117H mutation?

DS is double delta f508, so I can't help you with the mutation, other than I know of people with children with that mutation and another, who seem to have milder symptoms.

I would be concerned with the bright bowel on the u/s. I would hope that they are monitoring you, continuing to monitor you and that you have access to a high level NICU when your child is born, should he/she need surgery right away. DS was born with a bowel obstruction caused by meconium illeus -- apparently it didn't show up on the u/s. He was lifeflighted the next day to a hospital several hours away for emergency surgery.

I do know of people who have opted to have their unborn child tested for CF before birth, but I believe there are risks involved. Otherwise, you could probably have your husband tested by ambry or quest for a more extensive panel and/or have your newborn tested right away.

Sorry I'm not much help.

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