bubbabearzle
New member
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!
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!
