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Thread: Any info on delta F508/c.2657+2_2657+3insA

  1. #1
    worriedgrandma
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.

  2. #2
    worriedgrandma
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.

  3. #3
    worriedgrandma
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.

  4. #4
    Mommafirst
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Hello and welcome,

    You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.

    I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.

  5. #5
    Mommafirst
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Hello and welcome,

    You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.

    I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.

  6. #6
    Mommafirst
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Hello and welcome,
    <br />
    <br />You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.
    <br />
    <br />I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.

  7. #7

    Any info on delta F508/c.2657+2_2657+3insA

    hi there my son has the same gene combination if i can be of any help.
    It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
    katie

  8. #8

    Any info on delta F508/c.2657+2_2657+3insA

    hi there my son has the same gene combination if i can be of any help.
    It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
    katie

  9. #9

    Any info on delta F508/c.2657+2_2657+3insA

    hi there my son has the same gene combination if i can be of any help.
    <br />It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
    <br />katie

  10. #10
    worriedgrandma
    Guest

    Any info on delta F508/c.2657+2_2657+3insA

    Hi Katie, sorry I didn't see your msg, haven't been on lately. The only info I have found is the same as you said, male fertility so I'm crossing my fingers. My granddaughter is now 4 1/2 months old and as our Dr said, so far there is NO INDICATION at all that she has this disease other than a sweat test of 72. How old is your son?

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