My daughter was tested for CF when she was 7.5 (two years ago.) Her sweat tests were both in the borderline range, somewhere in the high 40's, low 50's... Then we did the 72 hour fecal fat test and found she has severe pancreatic insufficiency. The Ambry test came back a few weeks later and she has one mutation. We've been trying to figure out where she fits ever since then. She's been diagnosed with atypical CF, but that has gone back and forth for awhile.
My daughter was also adopted -- from Russia. The only thing we know is that the birthmother is blond. Personally, I think knowing her height and weight would be a lot more useful, but hey, I didn't get to write the adoption codes in Moscow... So it leaves us wondering if our daughter is genetically predestined to be 4'8" or if her small size is because of the pancreatic insuffiency or some other unknown reason.
Even after starting on Creon and Prilosec, my daughter continued passing gas, lots of burping, lots of stomach and side pain, sometimes runny poops and sometimes constipation. She also never gained any weight. She's had a couple of blood tests for celiac which were always negative, and after more than a year of not gaining her gastroenterologist did an endoscopy. Still no signs of celiac. However, a couple of months ago, she had a hydrogen breath test and turns out she has Fructose Malabsorption. It has all the same symptoms as the PI. Since giving up fruit, sugar, most vegetables, flour, and dairy her digestive symptoms has improved greatly. And despite eating so much less than ever, she's put on two pounds. I talked to her doctor about celiac again when my daughter got a rash after eating wheat and he said that "there is no 'never' in medicine". Despite all the testing she's had previously, he will continue to monitor her for celiac every year. (There is genetic testing which can tell you that your daughter doesn't have the markers so she will <i>never</i> get celiac, however, it's expensive and our doctor said it's rarely covered by insurance. And having the markers is not the same as actually having celiac. It only means that at some point, she <i>could</i> have it.)
For my daughter, even her gastroenterologist isn't sure how the fructose malabsorption issues affect her PI. He doesn't think it changes anything, but he admits that he's just not sure what it all means. When you have multiple absorption issues, it's pretty hard to pinpoint what component is doing what. So my daughter will continue taking Creon <i>and</i> following a very strict diet.
(By the way, our other daughter has growth hormone deficiency and she's beeing taking growth hormone injections for several years with no side effects. She's on track to grow to 5'4" -- not WNBA height like she hoped, but way better than the 4'7" she'd have been lucky to reach before medication!)
mom2own -- I'd love to hear about your experiences with FM and lactose intolerance. This diet is maddening -- but as I mentioned above, my daughter is gaining weight for the first time, so it's all good. There is no medicine that can help with this type of malabsorption, and I've also been told that it "shouldn't cause failure to thrive". But it seems that if eating something like an apple causes diarrhea and everything in your system passes right out, wouldn't that mean that you're not getting the nutrients you should? Couldn't that cause failure to thrive?
