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Thread: Classic CF class 1 and 2 mutations, no symptoms

  1. #1
    Junior Member
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    Mar 2017
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    Classic CF class 1 and 2 mutations, no symptoms

    Does anyone else have a class 1 and 2 mutation without any symptoms of cf besides an elevated sweat chloride level? My son is 2 without any symptoms.

  2. #2
    Super Moderator
    Join Date
    Apr 2006
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    20,956
    With DS, his doctor indicated his baseline should be no cough. We were proactive and did chest physiotherapy. Mainly his symptoms were digestive and sinus, although he DID culture pseudomonas right away. He didn't cough, didn't cough up anything. Do this day he still doesn't cough up anything unless he has a cold. Unfortunately CF is a progressive disease and eventually the lungs will become affected due to infections, extra thick sticky mucus....
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  3. #3
    Junior Member
    Join Date
    Jan 2019
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    2
    Yes, my daughter. She is 1 year and 9mo old. She was diagnosed thru neonatal metabolic screening, she has 2 severe mutations but no symptoms.

  4. #4
    Junior Member
    Join Date
    Feb 2019
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    5
    CFTR is ultimately responsible for the symptoms, but it has modifier genes that will affect penetration of the mutations.

  5. #5

    Trikafta

    Quote Originally Posted by Asmith62 View Post
    Does anyone else have a class 1 and 2 mutation without any symptoms of cf besides an elevated sweat chloride level? My son is 2 without any symptoms.
    My daughter who is now 26 has a class1 and 2 mutation and she went undiagnosed till 10 years of age. She started showing symptoms at about 8 1/2 years old though but despite many worried trips to the pediatrician she went undiagnosed!
    She is currently in the VX trial that was just approved yesterday (Trikafta) so I think I am free to put out there that this has helped her amazingly!
    I am so happy that so many people will be helped by this drug.

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