I was here a few years back when I was trying to get testing for my daughter and you all were very helpful. Especially Irish Heart and a few others and I am still very grateful for their help. The GI did a gene test to rule out Celiac because of her GI issues with a negative Celiac blood panel. She does not carry the DQ2 or DQ8 genes. She was diagnosed as Non-Celiac Gluten Intolerance after we removed gluten even though the GI said there was no reason to go gluten-free. The transformation when she went gluten-free was simply amazing and the GI was shocked so she gave her that diagnosis. However, she cheats now and then because she isn't Celiac (we get to suffer with her bad moods because she feels lousy).
I have a son who has been having GI issues and frequent non-traumatic fractures (6 in arm and 1 in his heel). His Celiac blood work was negative (full panel) but his DEXA came back as 3 STD below normal which is Osteoporosis. He is low in Vit D but not critcally and all other blood work seems fine.
He is being tested for Osteogenesis Imperfecta Type V (types I-IV were ruled out by gene testing). I have a feeling this will come back negative.
If that test comes back as negative, I want the GI to do an EGD (without gene testing) because one of the clinical reasons to do an EGD when a Celiac blood panel is negative, is unexplained osteoporosis. This will be a battle since the GIs at Children's (where we have to go for insurance reasons) really rely on the blood panels (they do run a full blood panel).
My question is this: is there anyone on this forum that had a similar situation with their child? I would love to be able to give the GI some examples of kids with negative blood work but diagnosed osteoporosis and then had positive biopsy for celiac disease. Shooting for the moon, I am sure.
We had planned to make my son gluten-free in Janaury regardless but now that he has been testing negative for Osteogenesis Imperfecta, I want to get that EGD to help rule out Celiac first.
Thank you in advance for your help.