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Thread: scared - newly found out i had 2 CFTR mutations

  1. #1
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    scared - newly found out i had 2 CFTR mutations

    43 yo female, found to have deltaF508 and G1069R during a genetic screen for family planning. so far, negative chest x-ray, excellent FEV, negative sweat test 14 and 16. i had to get the Sweat test done at a CF center so now I am on their radar. they had me do a CT scan of the chest. I just did it today. I am frightened they will find something. is it possible to find something awful on a chest CT after getting a negative chest X ray? I realize they are more sensitive. I do have a hx of upper respiratory tract infections and have had like 3 bouts of known bronchitis in life time (enough that it caused me symptoms) there could have been other bouts i dont know about. I walk up 9 flights of stairs and get out of breath but recover. I do notice that i get out of breath when talking for long periods- leaving a long voicemail, i seem to have to breath more frequently than most between sentences. that's the only significant shortness of breath i have noticed. Is it possible to have bronchiecstatis without significant symptoms? scared of results of this CT scan

  2. #2
    There is nothing to be worried about. You've gone 43 years without any real significant issues. Your results are turning out still really well and normal. There are several cases of adults being diagnosed with CF late, but have had no real issues for years like you have. There are millions of people healthy and non-healthy who get winded after going up 9 flights of stairs. The reason they probably are doing a CT scan is to check and make sure there isn't anything they are missing. This is important to your health plan when having a baby so they can make sure you get the right treatment for the safety of you and your child.

    With Bronchiectasis, it is something you can have, but only have flare-ups from time to time that require treatment. It varies per person. You can still live a normal life with it, but it might require a med to take if should symptoms arise or to keep symptoms at bay. From what information you've provided, it seems like you might not need that much, but it might help keep you a bit healthier.

  3. #3
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    I was diagnosed with CF at age 47. You are no sicker today than when you were diagnosed, it is just that now you have a name for your issues. Having said that CF is a progressive disease, it will over time get worse. I am now 77 so I feel that I can give you some advice. Continue to see the CF Specialist at the Approved Clinic where you were diagnosed. I have no doubt that with regular CF follow up, you will live a long and productive life.

    Bill
    Male 77 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5T. 100% PI. MAC, CFRD.

  4. #4
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    Don't be frightened. Most late diagnosed CFers will tell you that it's far better to delay diagnosis than being diagnosed at birth. Some of it is humor over the restricted lives our parents would have undoubtedly imposed. The main thing is not being so sick that diagnosis is inevitable.

    There's enough serious issues even in "mild CF" that you can look back at your life in terms of health issues and tell pretty quickly. It took me a few years to piece together my constant head/chest infections​. I had ear infections​ so bad that I lost my hearing on more than one occasion. I won the skinniest kid in school into University, had more nausea than an ocean row boat ride of five queasy people after a greasy meal, and pretty much everything else that points​ to CF. Rotten teeth, hunch back, barrel chest, smoker's cough, bloated belly, skinny arms, looking far younger than we actually are and a host of other stuff that is a little less obvious.

    I'm in agreement that you may be asymptomatic or have very limited issues, the discovery wasn't the result of some desperate search for why you are so sick. In fact there is an unknown number of people who have no CF symptoms, and may never know they have them. Having CF genetics​ is no assurance that you will have CF. It's not impossible that you can develop issues at a certain age. 47 seems like a magical age. I wouldn't worry.

    LL
    66 yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism appears to be virulent.

  5. #5
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    FYI!

    G1069R was just approved for Kalydaco. If you have any health concerns pop up you should talk to your team!

  6. #6
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    Snailj12,

    CT scans are certainly more detailed than x-rays, but if the x-ray is clear, that is a good start. In my case, an x-ray when I am feeling well shows a "small hazy pnuemonia" that the radiologist reports, then the pulmonologist says is actually one of my areas of bronchiectasis. My bronch is mild, so the other areas of it don't even show up on x-ray.

    One thing to be aware of is that your CT scan may show nodules, some even "spiculated." For a person who has lung inflammation and mucus issues (i.e. bronchiectasis and/or CF), nodules are NOT a cancer scare. I've had large, small, spiculated etc nodules, especially if I'm sick but even when I am not. The next scan, they're in a different spot. This is waxing and waning inflammation and mucus, not growing tumors. It is important to listen to your CF specialist (in my case pulmonologist as I don't have CF) as to what to worry about or not -- not Google or a radiologist report that may not account for your condition.

    I have a long history of infections and pneumonia (in childhood and then starting up again in my late twenties), as well as hemoptysis -- and my bronchiectasis is mild. I tell you this because it gives me the hunch that your CT scan results might be good.

    My health has been really good since my mid-late thirties when I became dedicated to clearing my lungs and strengthening my body with exercise. I was inspired by people much sicker than me who exercised regularly, and I was lucky to be starting from a relatively great place too (mild, not severe, lung damage).

    Many people think of exercise as something to make them look good - a chore or a vanity. I have come to see it as a celebration, privilege and necessity like food and water.

    On a side note, I'm amazed at how low your sweat test numbers are. Mine are in the low teens, too, so after the 95 mutation panel test was negative, I never pushed for full sequencing.

    Let us know how it goes and how you're doing.

    -Melissa
    40 year-old with non-CF bronchiectasis. Writer and editor, and mom of two tweens and a teen. Always grateful for the inspiration members of this site give me to exercise and more.

  7. #7
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    Snailj12,

    Let me add to what "emason" said.

    If you have any productive cough where you bring up thick mucus you should look into getting Kalydeco now. Don't wait until you develope lung damage. Kalydeco has done wonders for some of us with Residual Function mutations.

    Also, as others mentioned getting the diagnosis later I life can be a real blessing. You're no sicker than you hav bee all along. However now you know the cause and can take advantage of the advances being made in the treatment of CF.

    Wishing you the best
    Last edited by stephen; 05-21-2017 at 02:30 PM.
    75 Y/O with CF (D1152H and G542X) and Broncheiectesis.
    FEV1 Low 40s%.
    On Kalydeco since March 2014 and doing great.

  8. #8
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    This is great news about your mutation and Kalydeco. Considering that Orkambi is effective for ∆F508 and Orkambi is a combination of a CFTR moderator and Kalydeco, effective potentially on your mutation set with the news that Kalydeco helps G1069R.

    This is great news if you are by chance far more sick than you realize or you develop sudden onset of serious CF issues. CF is an Orphan disease. One of the advantages is the Orphan Drugs that are fast tracked through the approval process. Some of this is a matter of practicality, much of drug screening​ is in the form of larger and larger population trials. Impossible in orphan populations. Bottom line is we have access to two genetic drugs and a host of new ones are on the way.

    Understanding that in it's worst presentation, CF is a short desperate life, Orphan drugs are potentially as desperate in the reach for a cure for CF or CF issues. You have to weigh how much actual benefit is going to be derived from the drug or drugs that alter your genetics. I have the highest faith in their safety. Drug testing is incremental and today we can reasonably predict the behavior of a new drug in a fairly short period. Modeling software, or design software can test an enormous number of reactions to a new drug, eliminating a lot of the potential side effects encountered by a potential new drug. In other words, drugs like Kalydeco and Orkambi come with risk because of the allowed short cuts in bringing it to market. The long term effects are going to be discovered by the CF patients​ right along with the drug companies. If I was younger and could arrest damage from CF, if my CF issues were serious and likely to shorten my life to say 50, my quality of life would be added to the equation and I might take it. With family planning in the equation, I wouldn't even look at the bottle if I was a prospective mother, or father.

    Good luck,

    LL
    66 yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism appears to be virulent.

  9. #9
    it is possible to have bronchiectasis and not have CF https://en.wikipedia.org/wiki/Bronchiectasis

    Since your sweat tests were so low, it is unlikely (but not impossible) that you have CF. to have CF you have to get one CF gene from each of your parents. You have 2 mutations but they could be from the same parent. You either have to have a sibling tested or a parent to see if the mutations are on the same "arm" (both mutations from 1 parent, you would only be a carrier, not a person with CF) or on separate arms of the chromosome (1 from each parent - you would have CF).

    good luck, if you are going to have CF, now is the best time - there are a lot of good things coming down the pipeline

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