Let me try this again...
I've been lurking here for several months and finally joined this morning after an overwhelming need to talk to other moms who have gone through something similar. Then after talking to my husband (who is currently in China) and he was downright mad that we can't seem to get a diagnosis, I posted a question in a rambling stream-of-consciousness format.
Thanks to those who answered my last post despite my rather incoherent ramblings! I didn't mean to sound as if I wanted someone to make a diagnosis -- I'm really looking for some advice on how to proceed.
My daughter is small for her age and when her pediatrician grew concerned, we've gone through a myriad of specialists to see what might be the problem. Nothing seemed to turn up until we went to the gastroenterologist and he suspected pancreatic insuffiency (which was confirmed with a 72-hour fecal fat test) As a precaution, he sent us for a sweat test -- but he was convinced that she does not fit the profile for CF. (K is adopted, so we couldn't answer all those obvious questions about other family members.)
K's sweat test came out borderline both times. We went to the pulmonologist to rule out lung problems, but her x-ray revealed mucus plugs. Her sinus x-ray shows that her sinuses are inflamed, but no polyps.
Yesterday her genetic testing came back with one rare mutation, but the report said this does not indicate CF at this time. I don't understand how every test seems to come back with some sign of CF, yet the doctors don't seem to believe it can be. It's so frustrating not to get some sort of definitive answer.
I'm just wondering if you know of people who have these weird confluences of test results, but it turns out to be something completely different? Or does it seem that over time, CF symptoms come on to a greater extent?
K has had an enormous appetite her entire life, never put on weight, and couldn't go more than two hours between meals without going completely beserk. But I didn't make the connected to the timing of food until this fall -- and I feel AWFUL that she suffered so needlessly. (She takes a ton of enyzmes now and is a completely different kid!) I don't want to make that mistake again, so if she could have CF, I want to know. Do I accept the doctor's doubts and look for other answers? Do I pursue an actual CF diagnosis? If this just doesn't sound like CF, I'd like to research other possibilities -- I just have no idea where to start...
Thanks -- sorry about my first neurotic post. I should always remember to be totally calm before typing!
I've been lurking here for several months and finally joined this morning after an overwhelming need to talk to other moms who have gone through something similar. Then after talking to my husband (who is currently in China) and he was downright mad that we can't seem to get a diagnosis, I posted a question in a rambling stream-of-consciousness format.
Thanks to those who answered my last post despite my rather incoherent ramblings! I didn't mean to sound as if I wanted someone to make a diagnosis -- I'm really looking for some advice on how to proceed.
My daughter is small for her age and when her pediatrician grew concerned, we've gone through a myriad of specialists to see what might be the problem. Nothing seemed to turn up until we went to the gastroenterologist and he suspected pancreatic insuffiency (which was confirmed with a 72-hour fecal fat test) As a precaution, he sent us for a sweat test -- but he was convinced that she does not fit the profile for CF. (K is adopted, so we couldn't answer all those obvious questions about other family members.)
K's sweat test came out borderline both times. We went to the pulmonologist to rule out lung problems, but her x-ray revealed mucus plugs. Her sinus x-ray shows that her sinuses are inflamed, but no polyps.
Yesterday her genetic testing came back with one rare mutation, but the report said this does not indicate CF at this time. I don't understand how every test seems to come back with some sign of CF, yet the doctors don't seem to believe it can be. It's so frustrating not to get some sort of definitive answer.
I'm just wondering if you know of people who have these weird confluences of test results, but it turns out to be something completely different? Or does it seem that over time, CF symptoms come on to a greater extent?
K has had an enormous appetite her entire life, never put on weight, and couldn't go more than two hours between meals without going completely beserk. But I didn't make the connected to the timing of food until this fall -- and I feel AWFUL that she suffered so needlessly. (She takes a ton of enyzmes now and is a completely different kid!) I don't want to make that mistake again, so if she could have CF, I want to know. Do I accept the doctor's doubts and look for other answers? Do I pursue an actual CF diagnosis? If this just doesn't sound like CF, I'd like to research other possibilities -- I just have no idea where to start...
Thanks -- sorry about my first neurotic post. I should always remember to be totally calm before typing!