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I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to...

I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to...

I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to...

Steven (Ambry) Hi Steve. I'm new to the site . . . I just found out that my daughter has the R1158X mutation and can't find much info about it. I guess I have the same questions as Amber (Mallory's other mutation is the F508). Any links you might have would be great. Thanks!

hi amber. i just found out that my daughter (17 mos) has the f508 and a nonsense mutation (r1158x). she must've gotten the latter from me as my pregnancy screening was negative for cf (but this mutation is only picked up on the extended panel). at any rate, she was just diagnosed about a...

hi amber. i just found out that my daughter (17 mos) has the f508 and a nonsense mutation (r1158x). she must've gotten the latter from me as my pregnancy screening was negative for cf (but this mutation is only picked up on the extended panel). at any rate, she was just diagnosed about a...

hi amber. i just found out that my daughter (17 mos) has the f508 and a nonsense mutation (r1158x). she must've gotten the latter from me as my pregnancy screening was negative for cf (but this mutation is only picked up on the extended panel). at any rate, she was just diagnosed about a...

thank you for your response. i think it helped . . . i am having to bring up information stored in my brain from hs biology that i didn't even know was still in there! i think i understand the science of nonsense v missense, but what does it all mean for my daughter? just trying to learn...

My daughter (17 months) was diagnosed with CF less than a month ago. My pregnancy screening indicated that I was most likely not a carrier, so this came as quite a shock. Both mutations have been identified in the expanded panel--one is the 508 (probably from her dad) and one is R1158X...