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Thread: I could really use some help understanding

  1. #1
    Junior Member
    Join Date
    Jan 2019
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    1

    I could really use some help understanding

    Hi,

    A week ago we were told at my sonís 1 month visit that he had 3 mutations, 3791delC, G576a, R668c. My husband likely carries the first one and I likely carry the other two. According to CFTR2, the first is disease causing and the other two are not but may present mild symptoms.

    We had his sweat test yesterday and it came back at 38, borderline for a child under 6 months. His throat culture also came back for a mild bacteria.

    Does anyone have insight with these types of combinations? His doctors say they canít be sure if this will turn into CF but Iím confused because CFTR2 says theyíre not disease causing.

    Any help would be greatly appreciated. Iím terrified and looking for answers.

    Thank you!

  2. #2
    Super Moderator
    Join Date
    Apr 2006
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    20,930
    I don't have any information on your son's mutations...I'm assuming what the doctor meant by "not turning into CF" was that they may not be symptomatic mutations. Is this doctor a CF doctor? If not, I would ask to be referred to an accredited CF Facility. Mutations can be tricky. Some people are told they won't have CF symptoms, yet do... Even with my child who has a common CF mutation started off with a sweat test of 32 and his symptoms were more digestive. He DID culture a couple CF bugs right away and had sinus issues, but he didn't have a cough.
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  3. #3
    I would think it's because they have research that indicates neither of those genes disrupt the cftr channel individually enough to result in CF but they likely don't have any information on whether those 2 in combination with a disease causing mutation on the other allele cause disease.

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