View Poll Results: Is getting tested a waste of time?

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Thread: Can an adult have cystic fibrosis without knowing it already?

  1. #1

    Exclamation Can an adult have cystic fibrosis without knowing it already?

    Hi everyone!

    So, lately I've been dealing with a few troubling symptoms. Extreme shortness of breath, particularly when I exercise. My whole life I've felt this, but it's gotten extremely bad in the last 5 or so months, to the point where I haven't been able to go to the gym at all. I used to run every day, but I feel like I am going to throw up or pass out after very little time and can't catch my breath. About 3 months ago, I started having severe abdominal pain that is generally constant, though there are periods of time where it's much worse, to the point where I have to just lie down and wait for it to stop. I've also had both extreme diarrhea and extreme constipation with no explanation for either in my diet or lifestyle. I've been to the doctor many times, had a few scans, and I've seen a GI. No clue what could be causing any of this stuff, and no one seems to think the breathing and abdominal pain could be related. The scans showed two small fatty lumps in my liver and a slightly distended gallbladder, but I was told there was nothing of concern. I also had a brain scan after I passed out, and nothing was seen in my brain, but a sinus infection or buildup was noted. No one said anything, I actually only found out from looking at the notes in the online portal.

    The reason I ended up thinking about cystic fibrosis is because I passed an oily stool earlier, which was new for me. I saw cystic fibrosis, and it makes a lot of sense to me. I've struggled a lot with sinus issues, especially lately. My left ear has felt clogged, and the sinuses on that side of my face have been painful for several weeks now. And I've gotten sinus headaches every couple of months for...I can't even remember when those started. The breathing thing is the most troubling to me. It feels like I just can't catch a full breath, no matter what I do sometimes. Sometimes it's fine, but there will be periods of time where it feels like normal breathing is leaving me lightheaded and my lungs unfilled. When this happens, I compulsively take extremely deep and forceful breaths, but it only satisfies me in the moment that the air is pushed into my lungs. As soon as I'm exhaling, my lungs feel uncomfortable again.

    I have also lost a great deal of weight. It was partially intentional, but I was losing weight a lot faster than I think I really should have been able to, given the diet and exercise plan I was doing.

    I'm 24 years old, born in 1994. But I was born in Okinawa, Japan on a military base. Is there a possibility I was not screened for cystic fibrosis as an infant? My mom gets pneumonia all the time and deals with asthma, but I'm wondering if maybe she actually has cystic fibrosis and was never checked because the inhaler takes care of her breathing. She can't remember if I was screened or not. I was also born premature, so maybe that kept them from screening me? Is there any point in getting checked? I don't want to waste a doctor's time if it's impossible, but I am having a lot of trouble finding details about a scenario similar to mine. I know children in the US started getting screened in 1982, but I didn't know if being overseas would maybe have kept that from happening...

    I guess my main question is: Is there no way I would have cystic fibrosis without knowing already at this point in my life? Should I get a test done for it, or is it a huge waste of time and money?

  2. #2
    Junior Member
    Join Date
    Aug 2014
    Posts
    26
    I am 34, I was diagnosed when I was 23, it wasn't until I was diagnosed that I connected things I'd noticed but either didn't know it wasn't normal or it was blamed on something else so yes you can have CF and not know it

  3. #3
    Junior Member
    Join Date
    Sep 2018
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    2
    My son was diagnosed in 2009 at 2 months old based upon newborn screening. I didn't know much about CF, but as we learned I kept telling my mother that my father has always had the symptoms (sinus, chest, digestive issues and mostly chronic pneumonia) that we were "on the look out" for my son. My dad died in 2014 at the age of 74 to "COPD/Pneumonia" but was never tested for CF. I believe it is a distinct possibility he had CF. My son has yet to present any symptoms so perhaps my father didn't show anything until later. He said he started getting pneumonia and sinus infections in college.

    I don't know if that helps.

  4. #4
    Senior Member
    Join Date
    Sep 2009
    Posts
    2,754
    You are showing more than enough symptoms to justify further screening. You need to be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. I was 47 when I was diagnosed. Even if you were screened, as an infant, they would have only screened for 32 mutations. There are almost 2000 known mutations, any 2 will cause CF. Go to cff.org to find your nearest APPROVED CLINIC. Please come back here and let us know how you make out.
    Last edited by Printer; 11-06-2018 at 04:20 PM.
    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.

  5. #5
    Super Moderator
    Join Date
    Dec 2011
    Posts
    776
    This question is not only thoughtful, it's a good model for most medical tests and procedures. I try to remember to ask if anything actionable could follow with the results in hand. If you're feeling fatigue, a blood test might show anemia or urinalysis could show a UTI or such.

    Many, if not most of the 40+ CFers are late diagnosed. With the perfect vision of hindsight I should have been diagnosed a long time before I was at ~51 years of age. The moment I was diagnosed, medical intervention was immediately started.

    I'm 68 and frankly I don't know how much longer I can put up with the deterioration of my quality of life. Much of what we deal with is the result of a hard life. Our bodies are going full out in the fight for life against infection load, malnutrition/malabsorption, most of the GI issues that affect people are commonplace, the ENT and lungs are a garden of pathogens and any fluid in the body is thickened causing dysfunction at every turn.

    On the flip side, my father and paternal grandmother passed away at age 48 from clearly CF issues. Both had serious problems with the pancreas, grandmother had pancreatic/liver cancer, my father's pancreas was totally atrophied. My father was a dynamic and happy man which masked much of his health problems. If either one was diagnosed at an early age, I believe they would have lived to an older age with greater health.

    People are beginning to understand that more than one gene is in play that determines how CF will present itself and I believe that something genetic is causing the onset of the issues surrounding CF.

    One last thought. Some carriers are symptomatic, despite the conventional wisdom that carriers are perfectly fine. I'm 100% certain that we have diagnosed less than half of the people who are genetically CFers, and carriers who have significant CF issues.

    Best Regards,
    LL
    67yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism established to be virulent. Classification review in 2017 remains CF diagnosis.

    Complete pancreatic atrophy, Bronchiectasis, MRSA, osteoporosis, small duct disease, charming personality.

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