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Help In Finding A Gi In Union County Nj That Is Well Versed In Celiac Disease


ahrusso

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ahrusso Newbie

Hi,

I am a new member and need help in finding a GI in Union County NJ that is well versed in celiac disease. My 20 year old daughter was just diagnosed with celiac by way of endoscopy and confirmed with celiac panel blood work. The GI that diagnosed her is no help on follow up, I have learned more from talking with the Kogan celiac center in Livingston NJ and support groups. I need someone to interpret genetic testing that we had. I was told that either me or my husband must carry the celiac gene. Got all tests back and me and my husband do not carry the gene (patient does NOT have the HLA-DQ variants associated with Celiac disease)

yet my daughter has celiac and my one son does carry the gene (patient does have the HLA-DQ variants associated with Celiac disease). I am baffled and my daughters GI is not helping, he feels it is a mutation since genes are a funny thing. I just want a definite answer and guidance to know if maybe the tests were misinterpreted.

I would appreciate any help or referral of a doctor who can make heads or tails of this. I did not post the results, but I can if someone is willing to help.

Thanks so much

ahrusso


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    • xxnonamexx
      What about digestive enzymes that I hear help? I take align 5x probiotics daily.
    • Samanthaeileen1
      thank you RMJ! That is very helpful advice. Good to know we aren’t crazy if we don’t do the endoscopy. We are going to try the gluten free and see how symptoms and levels improve.    thank you Wheatwacked (love the username lol) that is also reassuring. Thankfully she has an amazing and experienced pediatrician. And yesss I forgot to mention the poop! She has the weirdest poop issues.    How long did it take y'all to start seeing improvement in symptoms? 
    • Wheatwacked
      My son was diagnosed when he was weaned in 1976 after several endoscopies.  Given your two year old's symptoms and your family history and your pediatrition advocating for the dx, I would agree.  Whether an endoscopy is positive or negative is irrelevant.   That may happen even with endoscopy.  Pick your doctors with that in mind. In the end you save the potential trauma of the endoscopy for your baby.   Mine also had really nasty poop.  His doctor started him on Nutramigen Infant because at the time it was the only product that was hypo allergenic and had complete nutrition. The improvement was immediate.
    • RMJ
      So her tissue transglutaminase antibody is almost 4x the upper end of the normal range - likely a real result. The other things you can do besides an endoscopy would be: 1.  Genetic testing.  Unfortunately a large proportion of the population has genes permissive for celiac disease, but only a small proportion of those with the genes have it. With family history it is likely she has the genes. 2.  Try a gluten free diet and see if the symptoms go away AND the antibody levels return to normal. (This is what I would do). Endoscopies aren’t always accurate in patients as young as your daughter. Unfortunately, without an endoscopy, some doctor later in her life may question whether she really has celiac disease or not, and you’ll need to be a fierce mama bear to defend the diagnosis! Be sure you have a good written record of her current pediatrician’s diagnosis. Doing a gluten challenge for an endoscopy later in life could cause a very uncomfortable level of symptoms.   Having yourself, your husband and your son tested would be a great idea.  
    • Samanthaeileen1
      here are the lab ranges.  Normal ranges for tissue transglutaminase are: <15.0 Antibody not detected > or = 15.0 Antibody detected normal for endomysial antibody is < 1.5. So she is barely positive but still positive. 
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