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Thread: 2789+5g->a

  1. #1
    Junior Member
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    Aug 2012
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    2789+5g->a

    Hallo,
    I know there are several of us with this kind of mutation.
    My genotype is very rare. 2789+5G->A + E585X.
    I tried to enroll in the Denver study with Kalydeco (Ivacaftor) but I'm form europe, then it's too far from here. And no one would pay for the trips.
    I'm 31, Pancreas Suff. MSSA and FEV1>90%
    I would push anyone with this mutation and able to enroll to do it. I'm too curious to know if it would be effective, since we have some residual protein on the cell, and since our aberrant part produce from alternative splicing is a truncated cftr protein named 836X.
    This isoform is made up of NBD1-TM1-RDomain regions. So it could be potentiable in theory.

  2. #2
    Administrator
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    Mar 2003
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    2,337
    CFTRSplicing: There is only one other person here who reported that mutation in their profile.

  3. #3
    Senior Member
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    May 2009
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    906
    I have that mutation, but it's not in my profile. I didn't find out about it until last year. However, Denver is a bit too far for me as well!

  4. #4
    Junior Member
    Join Date
    Jun 2007
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    I'm new here. Been reading posts for awhile but honestly was a little nervous to post considering some of the comments I've read. I'm hoping for support as I don't have any and don't feel as though our CF Clinic has helped much in the way of that. Anyway, my son, dx at 8 is now 15, has F508/2789 5G>A.

  5. #5
    Super Moderator
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    Welcome! Have you tried to get your son kalydeco off label???

  6. #6
    Senior Member
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    May 2009
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    906
    I have the same two mutations as your son. Although mutations aren't everything in determining outcome, it is good news because 2789+5G>A is associated with slower progression of disease since the body produces some working proteins. I'm 40 and by CF standards am fairly healthy, with lung functions between 60 and 70%.

    It would be great to try Kalydeco, but there's no doubt in my mind that my insurance won't cover it off-label. It will be exciting to see how the trials come out, though!

    Glad you posted. I've found a lot of practical help on this site and just avoid the drama when people get ridiculous.

  7. #7
    Junior Member
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    Jun 2007
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    That's great to know that it is a slower progression mutation. He just turned 16 in December and has been pretty healthy. I wish he'd do his treatments twice a day more regularly but we're getting there. His baseline lung function is 110%. A vegetarian and eats a lot soy. He gained 10 pounds over the last 2 months. Very happy about that. He hadn't gained weight for 9 months. He now weighs more than his father did when when Trevor was born! He is in denial of his C.F.. Won't even tell his close friends. I've recently found him support, online of course, with a few local kiddos with C.F.. Hoping this will help him. I'm the one that needs support now. I think because of his late diagnosis, the CF clinic assumes we know everything and gets annoyed when I ask questions. Hoping I can find answers along the way here.
    Thank you all in advance
    Kim

  8. #8
    Junior Member
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    Jun 2007
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    My son was pancreatic sufficient until 14. I was told the Kalydeco wasn't for him. When I pushed the issue, I was told it wasn't for his mutation. Is this something I should find out more about? Thank you for your response.

  9. #9
    Super Moderator
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    kalydeco is only approved for one mutation but is believed to work for many other ones. If it is a residual function mutation it is believed to work. Once vertex announced the results fom the Denver residual function study sometime in the next six months, I'd take that in to the doctors and push for off label.

  10. #10
    Senior Member
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    Sep 2009
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    2,756
    hlyterra:

    If you are not happy with your clinic I would, respectfully suggest that you try Boston Children's. It is a straight run down 95.

    Good luck,
    Bill
    Male 79 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5Tand 12T. 100% PI. MAC, CFRD.

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