carrier with symptoms

[heather1]

I am 44 yo mother of 2 DD (one with DDF 508 and other with 1 D F 508 and 1 3120 G-A). I have been having respiratory issues and PFTs at about 43%. My family dr says maybe it's because I am a carrier (I have to carry the DF 508 as it's the one both my girls have despite different fathers). Any suggestions of where to go from here?

 

[Aboveallislove]

I'd ask for a referral to a CF clinic for a sweat test to make sure you don't also have CF.

 

[2005CFmom]

I agree with Aboveallislove. I wholeheartedly believe in symptomatic carriers, but 43% PFT seems pretty low to be attributed to carrier status only. Something else is probably going on as well. Get a referral to a pulmonologist at the least to have your respiratory symptoms evaluated.

 

[heather1]

Sitting in the CF Clinic with younger (only remaining)daughter now. Going to see my pulmonologist next month, hopefully he will give me a referral to clinic!

 

[Printer]

We know that you have Delta F508 but evidently you have never been tested. I got the Dalta F508 from my Mother and the V562I from my Father. In retrospect, it is clear that my Father had CF, therefore he had an additional milder mutation.

You should have a discussion with your DD's CF Specialist.

Bill

 

[heather1]

DD CF doc said they would be glad to see me in clinic or at very least discuss my case with my pulmonologist. Hopefully, we will get somewhere

 

[Dank]

For what it's worth..My mother does not have CF, I do - which makes her a carrier. She has pancreas issues and the doctors that she has seen say its because of the CF gene as they have eliminated every other possible cause.