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Thread: trying to understand if I have cystic fibrosis

  1. #1
    Junior Member
    Join Date
    Mar 2017

    trying to understand if I have cystic fibrosis

    I am a 43 yo female who has never had pneumonia or pancreatitis. i have never been in the hospital for any health issues. I go to work every day. my colds last a few days and clear up. I am active an go to the gym. Anyhow, i recently decided due to my advanced age, I wanted to explore having a child on my own. I went to the reproductive endocronologist.
    To start the process, i had to get all these genetic tests. well, first I was told i was a carrier for cystic fibrosis. Then, i got a call from a genetic counselor saying that I tested positive for 2 mutations. she said they were not conclusive as to whether they were on one copy of a gene or there was a mutation on seperate copies. She told me to get more clarification, they would like to test my parents. I only have one living parent- my mother. She had to do this saliva test and I have not gotten the results.

    so, basically, if she is a carrier for the same 2 mutations or completely negative, it means I am a carrier. if she has one mutation, it means I got the other one from my father and i have the genetic make up of someone with cystic fibrosis. I have done some research and it sounds rare to have 2 mutations without having it. i can't find any research on people being carriers with multiple mutations so I am assumign the worst. I was told there is a milder form of CF. the genetic counselor asked me if I had any GI issues, chronic bronchitis. Yes, some irritable bowel where occasionally i have to run to the bathroom but my whole family has that. no chronic respiratory issues at all. How can i have this genetic make up and not be symptomatic. is it even possible I could just be a carrier having 2 mutations. I am so confused. this has turned my world upside down. I am torturing myself.

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  2. #2
    Junior Member
    Join Date
    Dec 2017
    Hi! I was recently diagnosed through the same process (fertility testing), and Iím just as confused as you are. I also have two copies (f508 and D1152H) but have never had ANY symptoms. Iím 31. Iíve been seeing a specialist - all my tests have passed with flying colors - but they neglected to tell me that the two copies could be from the same parent? That is very interesting, and could explain why Iím asymptomatic. Will you let me know when your motherís tests come back? I should have my parents do the same. Good luck!

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