Possible cf

[Jessica Gomez]

Hi everyone my story is a bit complicated. Im 23 years old and when I was 18 I was given a genetic test for CF and it came back negative the reason my Gastro dr ordered it was because of acid reflux, elevated lipase levels and sludge in my gallbladder which since then has been removed. Just recently my new gastro dr told me about the possibility of CF. I only have one person on my dads side that has CF no one on my moms. I don't have the typical CF symptoms just occasional unexplained shortness of breath, frequent respiratory infections severe acid reflux and persistent low vitamin d levels. My gastro dr said that I could have a rare mutation that wasnt checked for when I had the gentic testing 6 years ago and I haven't been sent for a sweat test. I remember asking the gentic specialist to repeat the test and she told me the test is pretty accurate. Im at loss here I don't think I have CF but it would explain a lot of my problems and reading other people's stories and how they were diagnosed later in life it's made me question it even more What do you all think?

 

[Aboveallislove]

Those sound like pretty typical cf conditions for someone who has a more "mild" mutation. It is very unlikely you were tested for more than a dozen mutations the first time. There are around 2000 different ones and require a very specific test. I'm glad your gi is on the ball and would immediately say yes, please refer me to an accredited cf center for both a sweat test and a full genetic screening. Having one person on your dads side with cf is much more than many here know of...I know n one on either side with cf. the good news is the drugs and treatments will help you so much if it is cf.

 

[Jessica Gomez]

Thank you for your response you seem very knowledgable about CF. Do you know why a lot of people with CF have probkems with acid reflux?

 

[Aboveallislove]

My reading indicates there are different theories...some it is what causes it in non CFers..the muscle...others say the increase cough...I've also read that it could be a function of the bicarbonate produced by the pancreas not being able to get to the gi track because of the sticky mucus, just as the pancreatic enzymes can't get out.