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Type: Posts; User: kchapman

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  1. Replies
    38
    Views
    23,506

    I'm so sorry you're going through a more...

    I'm so sorry you're going through a more classical presentation of CF, but it's good that you're putting the info out there, so that we people with this "mild" mutation set take better care of...
  2. Also, with the heterozygous R117h, I believe it...

    Also, with the heterozygous R117h, I believe it only affects those heterozygous with both R117h and the delta F508 mutations. I might be wrong, but I think if you're heterozygous with other...
  3. I have these same exact mutations, and while I'm...

    I have these same exact mutations, and while I'm not a geneticist, I do understand a little bit about genes and about the prognosis ("mild CF" or CRMS).

    For heterozygous R117h mutation and it's...
  4. Replies
    5
    Views
    3,989

    I have the same mutations, Delta f508 and r117h,...

    I have the same mutations, Delta f508 and r117h, with the 7T variant, and I'm taking Kalydeco. There are 3 variants of r117h, and usually there will be a 2nd genetic test done to determine which one...
  5. Replies
    30
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    8,394

    I fall into this category, diagnosed with CRMS,...

    I fall into this category, diagnosed with CRMS, with R117H & delta-F508, and I just started taking Kalydeco 3 weeks ago. Non-classical CF-related metabolic syndrome is still a serious problem, albeit...
  6. Replies
    9
    Views
    4,357

    Hi Tiffany, I'm a 41-year-old with these exact...

    Hi Tiffany, I'm a 41-year-old with these exact mutations, and I only started to get a mild chronic cough about 4 years ago, when I first tested positive for MAC/MAI bacteria. When I first posted on...
  7. Replies
    74
    Views
    6,457

    adult diagnosis?

    With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent...
  8. Replies
    74
    Views
    6,457

    adult diagnosis?

    With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent...
  9. Replies
    74
    Views
    6,457

    adult diagnosis?

    With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent...
  10. Replies
    74
    Views
    6,457

    adult diagnosis?

    With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent...
  11. Replies
    74
    Views
    6,457

    adult diagnosis?

    With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent...
  12. Replies
    38
    Views
    23,506

    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing...
  13. Replies
    38
    Views
    23,506

    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing...
  14. Replies
    38
    Views
    23,506

    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing...
  15. Replies
    54
    Views
    7,556

    deltaF508/R117H-7T mother just diagnosed

    This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant....
  16. Replies
    54
    Views
    7,556

    deltaF508/R117H-7T mother just diagnosed

    This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant....
  17. Replies
    54
    Views
    7,556

    deltaF508/R117H-7T mother just diagnosed

    This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant....
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