Page 4 of 4 FirstFirst ... 234
Results 31 to 37 of 37

Thread: DeltaF508 and R117H 7T

  1. #31
    Senior Member
    Join Date
    Feb 2007
    Posts
    1,005

    DeltaF508 and R117H 7T

    My daughter has mutations W1282X and R117H.
    she's been doing rather well with only a few 'scares' and only 1 hospitalization.
    we've attributed this to the R117H mutation, but live in fear daily of the other one.
    our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
    overall, our experience has been managable, but we know better than to let our guard down

    --Debbie

  2. #32
    Senior Member
    Join Date
    Feb 2007
    Posts
    1,005

    DeltaF508 and R117H 7T

    My daughter has mutations W1282X and R117H.
    she's been doing rather well with only a few 'scares' and only 1 hospitalization.
    we've attributed this to the R117H mutation, but live in fear daily of the other one.
    our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
    overall, our experience has been managable, but we know better than to let our guard down

    --Debbie

  3. #33
    Senior Member
    Join Date
    Feb 2007
    Posts
    1,005

    DeltaF508 and R117H 7T

    My daughter has mutations W1282X and R117H.
    she's been doing rather well with only a few 'scares' and only 1 hospitalization.
    we've attributed this to the R117H mutation, but live in fear daily of the other one.
    our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
    overall, our experience has been managable, but we know better than to let our guard down

    --Debbie

  4. #34
    Senior Member
    Join Date
    Feb 2007
    Posts
    1,005

    DeltaF508 and R117H 7T

    My daughter has mutations W1282X and R117H.
    she's been doing rather well with only a few 'scares' and only 1 hospitalization.
    we've attributed this to the R117H mutation, but live in fear daily of the other one.
    our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
    overall, our experience has been managable, but we know better than to let our guard down

    --Debbie

  5. #35
    Junior Member
    Join Date
    Jan 2018
    Posts
    1
    F508 delta and R117H-7T - I have these two mutations, and found out only when my son was about 3 when i was going to donate eggs and they rejected me. Told me I should have CF since I had two mutations. I thought they mixed the results with someone else, since I was completely surprised. That was 12 years ago and clearly to date I have no CF that Iím aware of. Have a history of mild asthma and deal with bronchitis once a year or so and colds to the chest fast and often require inhaler/nebulizer treatment (once every two years or so). Otherwise happy and healthy and nothing else Iím aware of. I never formally had any other testing of lung function CF etc since I havenít had the need to. So clearly, this mix can be very mild. I did pass the R1117h mutation to my son which showed up when I ran his raw dna data through Prometheus.

  6. #36
    I have both genes and have major stomach, pancreas, intestinal, and respiratory issues! I know everyone says that it's a mild combination, but not everyone is the same. I'm currently on Hospice and things are not looking good for me.
    Female 37 yo w/CF mutations delf508 and R117H. At end stages (diagnosed at age 24 via blood work; symptoms prior: DIOS, failure to gain weight, bronchitis, sinusitis, nasal polyps, and pneumonia)

  7. #37
    Junior Member
    Join Date
    Feb 2007
    Posts
    17
    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 ourselves. As it's easier to prevent than to cure a progressive disease, anyone not feeling symptoms yet should still get strong, exercise and seriously consider taking Kalydeco (which I've been taking for almost 3 years now).
    I started getting a chronic cough in my late 30's from MAI, but it wasn't horrible, and I had only had a couple cases of pancreatitis. Things slowly worsened over several years, but still not terribly bad. Just occasional night sweats and a small spot of sputum every day. When I started taking Kalydeco, my sweat test dropped to a completely normal score of 13, and I stopped coughing every day. I only have an occasional cough for a few days every 3-4 months, and I still test positive for MAI, but the levels have gone way down; it lives in the small spot of the lung it damaged, but it hasn't spread. I consider myself very lucky because without treatment, I would have gotten to where you are by the time I hit 50. But with a little bit of lung damage, I'm not totally out of the woods taking the Kalydeco, though; scarring is irreversible. If I had been taking it since childhood, then that would be a different story.
    Hopefully, your story will encourage the people with these mutations who haven't gotten sick yet to take Kalydeco and exercise anyway. Prevention is so important.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •