Results 1 to 5 of 5

Thread: Starting to think I may actually have CF....

  1. #1

    Starting to think I may actually have CF....

    Hello!

    I have known for several years now that I am a CF carrier (508 deletion), but because I have never had any kind of major lung issues I assumed that I couldn't possibly have a second mutation (only about 20 other mutations were looked for when they found the deletion, and those were normal).

    I am 41 year old woman, 4'10" tall, not skinny, caucasian. The only unusual thing about my lungs is that I have what doctors call "reactive airway disease" - when I catch a bug, it takes me a bit longer to get rid of it. Also, I have bilateral aplastic/hypoplastic frontal sinuses (not much there), nasal polyps, and one of my frontal sinuses has been nearly filled with a cyst for nearly 20 years (hasn't bothered me enough to have surgery).

    The reason why I started thinking about CF is related to digestive issues. As far back as age 20, I would get pain in the area of my gallbladder - it has been dramatically increasing in frequency, though it used to be a few days a year when it would hurt. My gallbladder has been imaged extensively over the years (at least 5 ultrasound exams and 2 CT scans), and since it never shows any stones or sludge the doctors shrug and move on. The one thing that they do consistently say is that it is very small (2.5cm long, maybe 1 to 1.5cm wide). After the previous studies I figured it may have been because I ate something not that long before, but my most recent ultrasound showing a microgallbladder was after 7 or 8 hours of fasting!

    In addition to this pain, I have had isolated elevations in amylase and lipase (188 was the highest lipase reading, but both always go back down to normal within days or the elevated readings). I used to be very overweight, but then starting in 2016 I started dropping weight fast and with no effort (70lb total over 9 months). My weight has stabilized now only because I cannot eat healthy foods and maintain it (I have no appetite and get full fast). I have diarrhea more often than not (bristol stool 6), and on a handful of occasions it has been of the toilet-destroying oily variety.

    So, I have possibly related symptoms and a known CF-causing mutation that make me think CF may be the culprit. On the other hand, there is something huge from my background that makes me think I couldn't possibly have CF: I am still alive. I'm not talking about my age, either - I am talking about exposure. For 12 years, I worked in a microbiology laboratory that solely studied cystic fibrosis lung infections! If CF patients aren't allowed to be in close contact with one another because of the risk of spreading germs, is it at all feasible that I could have worked with this bacteria so closely without ever catching an infection? I am talking tens of thousands of bacterial specimens, too, including every type of cepacia we could isolate. I even have multiple scientific papers published for my work on Pseudomonas biofilms!

    I am having an upper and lower endoscopy, plus a HIDA scan later this week so hopefully I will know more then. Until then, if anyone has thoughts or ideas to share I would be very grateful!

  2. #2
    Senior Member
    Join Date
    Mar 2012
    Posts
    160

    Wow

    They say truth is stranger than fiction. How amazing that you worked in a lab with CF bugs!

    I know how I felt when my kids got diagnosed and then I started to wonder about my own unusual symptoms. (I still wonder, but I have nothing like what you describe). I would see if I could get a doctor to refer you for a full gene scan & put your mind at rest. I would like to do that for myself, but I can't afford the test.

    I think peace of mind is worth a lot.

    Good luck in your search for answers!

    My CF kids are now 26, 21 & almost 14. The oldest is a father to a precious 2 year old girl, conceived naturally (the genetic jackpot).
    Mother to 3 CFers: boy 24, girl 19, boy 11

  3. #3
    Senior Member
    Join Date
    Sep 2009
    Posts
    2,742
    I was diagnosed at age 47, 30 years ago. You are exactly where I was then. There are now almost 2000 known mutations and we know that you have tested positive for one of these. Cystic Fibrosis is a progressive disease and you will get worse. Without treatment the progression will be much faster. You need to be tested at an APPROVED CYSTIC FIBROSIS CLINIC by a CF SPECIALIST. By the way, I chatted with a guy who was dx at age 41, he is now 57 His mother was tested positive also, today she is 94.

    If you need help finding an approved center, tell us the name of a large city near to where you live and we will find the center.

    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
    You could have one of the late onset ones like mine in combination with your F508del
    Last edited by CFsonofaCFdaughter; 01-24-2018 at 03:03 PM.

  5. #5
    Senior Member
    Join Date
    Sep 2009
    Posts
    2,742
    NO CF son; I was not "late onset". I had symptoms (that I am aware of) at age 3. I had symptoms right up to my dx, including 2 surgeries that would be CF RELATED NOW.

    We are born with CYSTIC FIBROSIS and I bet that it you could do some research, you had symptoms as well.
    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.

Posting Permissions

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