Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Need Help With Genetic Testing Results Dr Was Clueless.

Not crazy

Recommended Posts

Not crazy Rookie
Not crazy
Posted

I have been eating gluten for over a year so my GI did genetic testing. When I tried to ask about the results he looked at me like I was crazy and could only repeat what was wrote on the paper "celiac gene pairs are present". Then after I refused to do a 2 month gluten challenge to be tested he told me there wasn't anything else he could do and sent me on my way.

DQ alpha1: 01,03

DQ beta 1: 03:02,05

If someone could help me figure out which I have (DQ2,DQ8) it would be great. I tried to look at the Wikipedia links posted but the only Internet access I have is my phone and it wasn't working to well.

Thanks

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


cyclinglady Grand Master
cyclinglady
Posted

I have been eating gluten for over a year so my GI did genetic testing. When I tried to ask about the results he looked at me like I was crazy and could only repeat what was wrote on the paper "celiac gene pairs are present". Then after I refused to do a 2 month gluten challenge to be tested he told me there wasn't anything else he could do and sent me on my way.

DQ alpha1: 01,03

DQ beta 1: 03:02,05

If someone could help me figure out which I have (DQ2,DQ8) it would be great. I tried to look at the Wikipedia links posted but the only Internet access I have is my phone and it wasn't working to well.

Thanks

I don't have any expert knowledge on genetic testing since I was only tested for antibodies and had the endoscopy.  What I have read is that gene testing only determines if you are at risk for celiac disease.  

 

Here's a link that might be helpful:

 

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

 

Your GI might not be an expert on explaining the lab results, but the message was clear:   "celiac gene pairs are present"

 

 

So, it looks like you have the risk of getting celiac disease.   You can do two things:  1)  consume gluten for the next two to three months, get the antibody tests and/or the endo, or 2) stay away from gluten as it appears you have been doing for the last year (not clear on your message).  

 

 

 

 

Not crazy Rookie
Not crazy
Posted
  • Author

Sorry. That should of said I have been eatting gluten FREE for over a year. The GI did the genetic tests to rule out celiac since blood tests wouldn't be helpful. One dr ran half the blood tests even after I explained I had been gluten free for a year. So wasn't surprised they were negative. But the negative results just made him think its all in my head more then he already thought. (He said I just needed to excerise more, take some antidepressants and some sleeping pills)

Guess what I'm asking is, based on my results do I have HLA DQ 2 or the HLA DQ 8 gene. I know I have the genes I just don't know which ones.

The GI wanted me to do a gluten challenge since I do have the genetics but I refused. There is no way I could handle 2 months of gluten. I tried one meal with gluten. Took a week before I could eat anything with out feeling like I was going to throw up. Joint bone and muscle pain came back along with brain fog, mood swings and anxiety. Another time i Had to work in the kitchen at work 3 times within a couple weeks. Ended up with an anxiety attack and so much pain and brain fog I missed 2 weeks of work. Doctor put a restriction of no kitchen on my FLMA papers when I returned. HR didn't like that and I lost my management position because I can no longer preform all the job requirements.

cyclinglady Grand Master
cyclinglady
Posted

Looks like your're on the right track!  

 

My husband's been gluten-free for 12 years.  No one thought to test him for Celiac Disease, but two docs (his GP and my allergist), suggested giving up wheat/gluten.  It took a year for him to realize that he really did have a problem with gluten.  He now refuses to do a challenge (why bother?)  He's happy and now our household is pretty much gluten-free except for some packaged snacks for my daughter's lunches.  

 

So sorry to hear about your work and health issues.  Hopefully, things will continue to improve for you (and for me too!)

frieze Community Regular
frieze
Posted

I have been eating gluten for over a year so my GI did genetic testing. When I tried to ask about the results he looked at me like I was crazy and could only repeat what was wrote on the paper "celiac gene pairs are present". Then after I refused to do a 2 month gluten challenge to be tested he told me there wasn't anything else he could do and sent me on my way.

DQ alpha1: 01,03

DQ beta 1: 03:02,05

If someone could help me figure out which I have (DQ2,DQ8) it would be great. I tried to look at the Wikipedia links posted but the only Internet access I have is my phone and it wasn't working to well.

Thanks

you need Nora!  and where is the other half?

pricklypear1971 Community Regular
pricklypear1971
Posted

I have been eating gluten for over a year so my GI did genetic testing. When I tried to ask about the results he looked at me like I was crazy and could only repeat what was wrote on the paper "celiac gene pairs are present". Then after I refused to do a 2 month gluten challenge to be tested he told me there wasn't anything else he could do and sent me on my way.

DQ alpha1: 01,03

DQ beta 1: 03:02,05

If someone could help me figure out which I have (DQ2,DQ8) it would be great. I tried to look at the Wikipedia links posted but the only Internet access I have is my phone and it wasn't working to well.

Thanks

There has to be more on the report than that. Any more writing, anything....details about the alleles??? What lab did the testing?

Archived

This topic is now archived and is closed to further replies.

Go to topic listing
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      132,807
    • Most Online (within 30 mins)
      7,748
    CeceNV
    Newest Member
    CeceNV
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • Russ H
      Thoughts? Non-endoscopic Celiac diagnosis in two year old

      By Russ H · Posted

      The anti-endomysial antibody test is an old test that is generally reported as positive or negative - a lab technician looks down a microscope to check for fluorescence of the sample. It is less sensitive but more specific for coeliac disease than IgA tTG2. Hence, it is not "barely positive" - it is positive. People diagnosed in childhood recover much more quickly than adults.  I would look at testing all 1st degree relatives - parents, siblings.
    • xxnonamexx
      My journey is it gluten or fiber?

      By xxnonamexx · Posted

      What about digestive enzymes that I hear help? I take align 5x probiotics daily.
    • Samanthaeileen1
      Thoughts? Non-endoscopic Celiac diagnosis in two year old

      By Samanthaeileen1 · Posted

      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
      Thoughts? Non-endoscopic Celiac diagnosis in two year old

      By Wheatwacked · Posted

      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
      Thoughts? Non-endoscopic Celiac diagnosis in two year old

      By RMJ · Posted

      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.  
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.