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Cystic Fibrosis Message Board


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Hi,
My son had one sweat test in the 30's and one in the teens. He has "asthma", is failure to thrive, has a g-tube due to violent vomiting and diarrhea from certain foods, requires almost 3000 calories a day, has constipation alternating with diarrhea, and is now on Creon. We gave up on the elastase test and the fecal fat tests because he got so constipated when we gave him the 100 grams of fat for the test that he threw up repeatedly. We are trialing Creon with the thought that if he gained weight on the enzymes, we could diagnose pancrease insufficiency. He has has tonsils and adenoids removed for obstructive sleep apnea (which helped), he has chronic sinusitis, clubbed fingers and toes. Has had pneumonia several times, RSV even more times and whenever he gets a cold, he gets some kind of lung infection. He is also struggling with high blood sugars though he is currently able to regulate without meds so he is not diabetic. Finally, he gets severe bloody noses pretty routinely. We have to take him in since we cannot stop the bleeding in less than 20 minutes at times.
He has had the gene tests for CF done for 200 gene mutations, all of which were negative. I would love to hear what you learn and how you decide to proceed with things. I would love to hear a definitive non-CF diagnosis but we have not gotten anything substantial. We are told very often that he can't have CF with his sweat test results, and the gene tests, even though they cannot test for over 1,000 mutations.
One thing I will say is that we are treating him for his symptoms which brings me comfort even without a diagnosis. I know of others who received no treatment and then died earlier than they should have because of lost time. I cannot wait for science to catch up with our kiddos!
Good luck to you...
mom2owen-
Thanks for answering my questions about the fecal elastase and GI bleeding. What would we moms do without each other to bounce things off of?... As I continue to read about your little guy, I am truly amazed at how sick he has been with DEFINITIVE symptoms, "not just a little 'my tummy hurts' " some moms overreact with, and yet your doctors won't approve the Ambry amplified CF test???!!! Quote me when you say that there is a friend in California whose doctors (GI and peds) FOUGHT for authorization with a lot less evidence of CF than your case.
Do you mind if I ask more about your son's GI bleeding? This is the more disconcerting symptom in the minds of my daughter's doctors. It started with the finding of a weird, purple, bubble-looking lesion that looked NOTHING like a polyp. Doctors (4 of them) had never seen anything like it. When they wheeled my daughter in for surgery to remove that part of her colon a month later, the lesion was gone with a scar in its place. Therefore, they never did get to biopsy it. It was about 20 cm into the colon. Then 3 months later, more bleeding, they found neutrophilic infiltration and lymphoid hyperplasia. Recently, she's had bloody mucous (no stool, just bloody mucous). Does any of this sound familiar to what you experienced? We've ruled out crohn's, celiacs, cystic fibrosis.... The only thing about shwachman diamond that you might want to consider is that fact that while CF doesn't usually cause GI bleeding (unless you've been on enzymes way too long, I think I heard), I was told that Shwachman Diamond can cause both the bleeding and the fat malabsorption. Do you remember why you dismissed this a while back? I think it might possibly fit your situation from my limited glance at your son's history. Again, I'm no expert, just a mom who pokes around a lot. My heart and prayers go out to you. You've been through a lot!





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