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Thread: need to understand

  1. #1
    Junior Member
    Join Date
    Mar 2017
    Posts
    4

    Question need to understand

    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.

    Read more: http://www.healthboards.com/boards/g...#ixzz4ckuB8byF

  2. #2
    Super Moderator
    Join Date
    Dec 2011
    Posts
    787
    There is an unknown number of asymptomatic but genetically CF people walking around. I'm​ not being flip, there's a lot we don't know about CF. We're an orphan disease which means that data on rare mutation sets may have one or two people who have the same genetics, if that.

    There are commonalities in the more common mutation sets, but there's more data to have valid conclusions​I. You have the most recent accepted CF genetics, two different mutations​. It's possible to have more than one mutation on a somatic chromosome, most of them are defined as specific mutations. In other words the probability is high that you are going to pass one of two genes on to a baby. It's as if you're an asymptomatic carrier, except for the baby will be a carrier of one gene or the other.

    Of the ~2000 possible gene mutations the actual number that are disease causing is as high as 1000. I'm at 4 to 2 on articles​ claiming that my S1235R is disease contributing. I have mild CF when compared to the least fortunate. Infants who die at 2, or younger to varying degrees of chronic/episodic illness to whatever lifespan is ahead.

    You have the ability to screen for a CF free donor. As long as you are symptom free, don't let this stop your decision to have a baby.

    LL
    67yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism established to be virulent. Classification review in 2017 remains CF diagnosis.

    Complete pancreatic atrophy, Bronchiectasis, MRSA, osteoporosis, small duct disease, charming personality.

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