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My Gene Test Came Back Positive!


cgilsing

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cgilsing Enthusiast

I'm one of those people that wants a real diagnosis. I feel like it's important to getting proper health care, and no gastroenterologist is going to take me as a patient without a diagnosis. Unfortunatly for me, when the posibility of celiac disease came up for what was making me sick, I was under the care of a family doc that didn't know anything about celiac disease and didn't know to send me to a GI. She told me that the way they diagnose celiac disease is by trying a gluten-free diet to see if it works. Well, it worked...and it worked really well! Over the next few months I did more research and discovered I should have had a biopsy before starting a gluten-free diet. I asked for a referal to a GI and low and behold 6 months after starting the gluten-free diet my test results came back inconclusive. The idea of eating gluten again to get a diagnosis is out of the question for me....it's not worth that! I can't even stand the thought of it. That GI refused to see me again, and was actually pretty nasty about it. I finally got up the courage to go to another GI about a month ago. I told him my situation, and that I wanted to be under the care of a GI. He was very sympathetic to my situation! He understood why I didn't want to eat gluten again. He said that everything pointed to celiac disease (a family history, dramatic improvment with a gluten-free diet, plus he said I was the picture of celiac disease....red hair, ghost white, Scottish heritage :lol: ) He said he, as a doctor, needed some proof of celiac disease though before he could really acknoledge that I did in fact have celiac disease (and I understand that). He said he was going to give me a blood test and do genetics testing. If that came back positive then he wouldn't make me do the gluten challenge and would take that as positive for celiac disease, given my symptoms. Well, I got the test back today and it's positive! I never thought I would shed tears of joy over a positive result for a life-long illness...but I did! :D


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jerseyangel Proficient

Wow--glad you found out for sure!

TinkerbellSwt Collaborator

I am so happy for you! It is hard not having a concrete diagnosis. I need to find a GI around here that I can go to, just to keep up with me. Anyone here know of someone in central New Jersey?

mamaw Community Regular

Glad it all worked out and put your mind at ease.....To this day I don't have an gastro doc because they just don't get it unless they have it.... Some are great but I haven't been so lucky so I just do my own thing and move on gluten-free...mamaw

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    • par18
      Thanks for the reply. 
    • Scott Adams
      What you’re describing is actually very common, and unfortunately the timing of the biopsy likely explains the confusion. Yes, it is absolutely possible for the small intestine to heal enough in three months on a strict gluten-free diet to produce a normal or near-normal biopsy, especially when damage was mild to begin with. In contrast, celiac antibodies can stay elevated for many months or even years after gluten removal, so persistently high antibody levels alongside the celiac genes and clear nutrient deficiencies strongly point to celiac disease, even if you don’t feel symptoms. Many people with celiac are asymptomatic but still develop iron and vitamin deficiencies and silent intestinal damage. The lack of immediate symptoms makes it harder emotionally, but it doesn’t mean gluten isn’t harming you. Most specialists would consider this a case of celiac disease with a false-negative biopsy due to early healing rather than “something else,” and staying consistently gluten-free is what protects you long-term—even when your body doesn’t protest right away.
    • Scott Adams
      Yes, I meant if you had celiac disease but went gluten-free before screening, your results would end up false-negative. As @trents mentioned, this can also happen when a total IGA test isn't done.
    • Seaperky
      I found at Disney springs and Disney they have specialist that when told about dietary restrictions they come and talk to you ,explain cross contamination measures tsken and work with you on choices. Its the one place I dont worry once I've explained I have celiac disease.  Thier gluten free options are awesome.
    • Churley
      Have you tried Pure Encapsulations supplements? This is a brand my doctor recommends for me. I have no issues with this brand.
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