Been there, done that... Actually, we're still looking for answers.
My daughter (8 years old) had two borderline sweat tests and has one mutation. We did the fecal fat test last February and she is "severely pancreatic insufficient". We had an x-ray that showed her lungs were "not clear" but the doctor concluded, <i>adamently</i>, my daughter does not have CF. When I asked a question, she told me to get a second opinion.
We met with the head of the CF clinic and he concluded my daughter falls on the spectrum -- he said the definition of CF has expanded to include those who have symptoms even if two mutations haven't been discovered. He said it was quite likely she has another mutation that will be discovered in the years to come and it's also possible, maybe likely, that she'll <i>only</i> have pancreatic problems.
We were followed up by a third pulmonologist who said he doubts CF because she hasn't gained any weight since started on enzymes and if she was pancreatic insufficient, the enzymes would have resulted in a 10 to 20 pound gain last year.
The gastro doc has been very concerned about her inability to gain weight and last month we redid the 72 hr fecal fat <i>while taking enzymes </i>and turns out she is <i>still</i> showing malabsorption. He ordered an endoscopy (which she had on Friday) to check for celiac and other possible ailments. But according to the nurse who prepped us for the biopsies, the last pulmonologist changed her records to say that my daughter does not have CF.
So she most definitely has pancreatic insufficiency, but she does not have <i>any</i> of the conditions that could possibly cause the PI. She doesn't, then she does, then she doesn't have CF. She may or may not have another condition on top of the PI to account for the malabsorption. Or, according to the doctor that performed the endoscopy, maybe she's just small and we have nothing to worry about. Arrrrgggghhh! Are you kidding me? Isn't malabsorption an actual medical problem?!? Aren't there actual numbers that indicate PI?
My daughter doesn't fit anything -- she is proving that medicine is more of an art than a science. You remember that game with Chinese fortune cookies where you add "in bed" at the end of every fortune? I feel like that, but instead of fortunes we have doctors and instead of "in bed" we add "except for K".
PI is a symptom, not a disease -- except for K, who doesn't seem to have any underlying reason for PI.
Sweat tests are pretty straight forward -- expect for K who had a ten point difference on her arms (56 on her right arm, 46 on her left)
Kids instantly gain weight after starting on enzymes -- except for K who actually lost a little bit of weight over the last year.
Yeah, I'm pulling out my hair. I'll be old and gray before anyone reaches an answer. (and all the stress over this will have me old and gray in another few weeks...)
You are definitely not alone in the confusion or annoyance of trying to get an answer. When our gastro doc ordered the endoscopy, I started reading about celiac and there are just as many moms on that forum who are getting conflicting and confusing non-answers from their doctors.
Good luck with all of this!!!!
