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Two mutations? Do I have CF?

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Cystic Fibrosis
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shellindc
New Member
Joined : Jan 2009
Posts : 2
Posted 1/11/2009 1:17 PM (GMT -7)
I came up + for delta f508 AND R347H. My parents both just got their results back and my mom is + for 508 and my dad is + for R347H.

Does that mean I have CF? Do the mutations have to MATCH to have CF? I'm a 35 y.o. female and have never experienced any CF symptoms.
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shellindc
New Member
Joined : Jan 2009
Posts : 2
Posted 1/14/2009 5:48 PM (GMT -7)
Well, apparently I do. After meeting with the geneticist and the pulmonologist, although I am asymptomatic for the most part, I technically do have CF. Talk about a shock of finding that out at 35!

The two mutations do NOT have to match to be an affected person.
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Gemsi
Veteran Member
Joined : Feb 2007
Posts : 1050
Posted 1/16/2009 1:32 AM (GMT -7)
Hi there,

I think it's so great that you're not experiancing any CF type problems. That is excellant to say you're 35!
Hopefully you won't experiance any problems, and live a long full healthy life!

It's good that they found out though, so if any problems with your health do start to crop up, then they will know why and how to treat it.

Thankyou for sharing your experiances-it's always nice to hear from a person who isn't getting any of the problems CF causes. :D

Oh, and you're right, the mutaton types don't have too match, you just have to have 2 of them-one from each parent.

All the best
Gem
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charliegirl0504
New Member
Joined : Jun 2012
Posts : 1
Posted 6/18/2012 10:39 AM (GMT -7)
I have the same two mutations and was also diagnosed at age 35.  I have had lung issues most of my life, but they just would tell me that I had another round of bronchitis and give me lots of antibiotics to knock it out.  Would love to compare notes with you!!
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