Help With Diagnosis

[mderoc]

Hi! I need some experienced opinions regarding my son. He is one and had an endoscopy due to severe reflux that two meds were not helping. He was born 5 weeks early and had colic, reflux and general irritability. He has never had a solid poop in his life. He was tested for food allergies at 6 months and came up positive to every food (fruit, veggie and grain) that I was feeding him - yes there was gluten in his cereal! The docs suspected EE and put him in a diet of only neonate for two and half months. His scope showed blunting of the villi with while blood cells (lymph-something) both consistent with celiac and his IGA was borderline low. The GI ordered bloodwork to check for Celiac and all the bloodwork came back negative. Therefore he concluded that he did NOT have celiac. My pediatrician and allergist both disagree and are diagnosing him with celiac and sending me to Childrens Hospital of Penn for a second opinion. Does this sound right? I do believe that my son has celiac as he has responded extremely well to the gluten-free diet and his reflux seems to be improving. I do not have celiac but have the genetic markers for gluten intolerance however my son does not. When I asked the GI what the biopsy means he didn't have an answer but it is not "normal". Am I on a wild goose chase to get the correct diagnosis? I understand it is very hard to diagnose this and my son is only one and has not had a lot of gluten so maybe that's why the bloodwork is neg? Any comments are welcome... I feel like this is my answer however I can't understand why the GI doc is not acknowledging it? Thanks!

[Cara in Boston]

I'm no doctor, but blunting of the villi IS CELIAC. The blood tests - especially in young children - are not accurate and frequently show a false positive. The fact that he felt better gluten free should make it perfectly clear. Glad you have your pediatrician on your side and good for you for not just assuming that the doctor is right. Our first GI said my son didn't need a endoscopy because his blood tests were "unclear" and his genetic markers indicated a "low" possibility. We took him to Children's Hospital of Boston (because the previous doctor had no explanation for the "unclear" blood tests) and he had the scope and was found to have extensive Celiac damage. He is now gluten free and feeling great. Don't give up.

- and you can always keep him gluten free (after the testing is complete) no matter what the doctor says . . .

Trust your instincts.

Cara