My daughter battles diarrhea constantly, is small and has had a lot of health issues. She was just tested for an incredibly rare disease called sucrase enzyme deficiency. It is suspected that more people have it, but it is under diagnosed. I would see about getting him tested for this because one of the major symptoms is frequent watery diarrhea. My daughter was tested for a lot of things for her diarrhea, including celiac's but nothing came up with anything. Someone mentioned her to get tested for this when i asked her GI doctor, he said that it would be shot in the dark since it is so rare. She was tested last friday, I got a call on Wednesday that she does in fact have this. He didn't believe it was possible since it is so rare. She is getting enzyme replacment therapy and is now on a very strict diet. -Sarah
any update?
biopsy results?
how can we help?
elevated endomysial and anti-tissue transglutaminase antibodies has a greater than 95% ability to show celiac disease but there are situations in which the tests are "false negative" meaning that the test says he doesn't have celiac, but it's acutally there. The reasons for a "false negative" can be due to:
1) congenital deficiency in IgA antibodies
2) gluten-free diet
A biopsy can be helpful.
The lucille packard children's hospital gastroenterologist gave good care to 2 of my friends whose children have celiac.
More doctors and opinions seems the way to go until you get answers. This isn't soemthing to ignore as you obviously know. What comes to mind is stomach parasites...or something a specialist would know about like a pancreas condition...or celiac, go wheat free for a few weeks (the test is good but I think it was around 95 or 97% reliable compared to the biospy test)....or see if there are any food sensitivties triggering with eliminiation diet (doesn't sound like that too much though)... I think I would call someplace like Hopkins that has a lot of pediatric specialists for all sorts of childrens problems and try to line up some appointments and see what's going on. The poops definitiely are clear clues to someone who knows what it is. I'm thinking of Hopkins because I've met a few of the pediactic doctors in my efforts to get some answers for myself (a few did adult visits too) and can picture them helping. They have a good genetic specialist as well. Good luck! Let us know as you search...