Grrrr Gene Testing-Results Not What I Expected

[powerofpositivethinking]

so i already felt in the grey area with testing, please see my signature, and was hoping for some validation with genetic testing.  That didn't come through since it showed I don't possess DQ2 or DQ8, but instead have gluten sensitive genes which I know aren't medically backed anyway 

 

Here were my results:

 

Gluten Sensitivity Gene Test

HLA-DQB1 Molecular analysis, Allele 1      0303   

HLA-DQB1 Molecular analysis, Allele 2      0501   

Serologic equivalent: HLA-DQ   3,1  (Subtype 9,5)


 

TEST INTERPRETATION(S):

Interpretation of HLA-DQ Testing:  Although you do not possess the HLA-DQB1 genes predisposing to celiac disease (HLA-DQ2 or HLA-DQ8), HLA gene analysis reveals that you have two copies of a gene that predisposes to non-celiac gluten sensitivity, in your case HLA-DQB1*0303 and HLA-DQB1*0501. Having two copies of a gluten sensitive gene means that each of your parents and all of your children (if you have them) will possess at least one copy of the gene. Two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene, and the resultant immunologic gluten sensitivity may be more severe. This test was developed and its performance characteristics determined by the American Red Cross - Northeast Division. It has not been cleared or approved by the U.S. Food and Drug Administration.

[IrishHeart]

Hon, I am sorry, I have looked and looked, but I cannot  find any Pub Med, scientific or informational research that corroborates any 

 

 

" gene that predisposes to non-celiac gluten sensitivity"

 

 

But this does not exclude a NCGS diagnosis.!..if gluten makes you sick, you have a gluten intolerance

and should stay gluten-free.

IMHO  ( I am not a doctor) 

 

"Currently, there are no recommended methods to test for non-celiac gluten sensitivity. Some doctors offer saliva, blood or stool testing. However, these tests have not been validated and are therefore not accepted.  

In NFCA’s webcast, Dr. Guandalini states:

“As a matter of fact, right now, they are to say that there is absolutely no biological readout that is no way can this diagnosis can be supported by any laboratory investigation. No antibodies in the blood are specific enough, or sensitive enough, for this condition. No antibodies in the stools can be utilized to diagnose or screen for this condition.”

Dr. Fasano also touched on this topic and stated that his team is currently conducting research to identify biomarkers that may help to test for and diagnose non-celiac gluten sensitivity:

“…as Dr. Guandalini explained when the only way to make a diagnosis of gluten sensitivity is by exclusionary criteria since we do not have tests that will point in that direction. And that’s where our current efforts are all about. Now that we understand that it is a different entity we want to make sure that we can eventually identify the biomarkers for this condition, and we’re doing a double blind study to identify the biomarkers that will eventually fill the gap that Dr. Guandalini was alluding to.”

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[cyclinglady]

I agree with Irish.  You have seen that I have harped about the fact that although I have been formally diagnosed, my husband has not.  He's been gluten-free for 13 years.  He went off gluten at the advice of my allergist and his GP.  It would be nice to have a formal diagnosis, but he has stated that he will not do a gluten challenge.  For what? He already knows that gluten makes him sick.

[nvsmom]

Oh gee, I know you were hoping for a more definite result.    I've never heard anything about gluten sensitivity genes either.

 

You could be in that minority of celiacs who do not have the DQ2 or DQ8 genes. I read (in Dangerous Grains I believe) that 90 and 94% of celiacs have the DQ2 and DQ8 genes respectively. There are a couple of people around here who are in the same boat - I just can't remember who...

 

The gold standard biopsy after a positive blood test seems like a bit of a crap shoot to me; I'm exaggerating a bit but I don't understand why doctors love it so much. They already had a positive test showing that your body is attempting to do damage when gliadin is in your system, just because they did't find damage doen't mean your body is trying to attack itself. They can miss finding the damage or perhaps your body is withstanding the autoimmune attack better than others do. Who knows... That was part of the reason I did not have the biopsy, I didn't want an ambiguous test to affect my resolve to live gluten-free.

 

You've had positive blood tests, you feel better gluten-free, and your health has improved. It's celiac disease. I've never found anything else that causes a high DGP. The grey area you are in is almost black. KWIM? You are making yourself better, just stick with it and let doctors call it whatever they want.

 

(((HUGS))

[ravenwoodglass]

Not all celiacs have DQ1 or DQ2.  I myself am a firmly diagnosed celiac who is a double DQ9 and was close to death by the time I was diagnosed.  I have a family member who was diagnosed by both blood test and biopsy who recovered on the diet but then was gene tested a few years later and told they were not celiac because they also didn't  have DQ2 or DQ8. There is still much to learn about genes and if you have had some positive blood work that has gone into normal ranges and you have seen relief on the diet IMHO you are celiac. Continue healing and don't worry about what label under which you fall.

[powerofpositivethinking]

all your replies definitely made me feel better

 

I was upset when I wrote the first post, there's no denying that, but despite those results it doesn't change that gluten makes me feel terrible.  It brings my digestion to a halt and the brain fog makes me feel like I'm having an out of body experience.  I'm there physically, but mentally I'm so out of it, I'm not fit to be around.  I even thought about the way I would have reacted pre-gluten-free to the test results.  I would have been upset for days at the outcome.  I'm still a bit disappointed, but it's nothing that compares to the fantastic way I've been feeling...minus the post I made the other week about finally trying oats again and reacting to them. 

 

This whole process has been so frustrating, but in the end I realize I should count myself lucky that LabCorp even runs DGP tests as part of their panel, or I would still be wondering what is wrong with me.  The only thing that makes this process less frustrating is coming here to vent and having others truly understand

 

Things I've decided:

-I'll stop chasing the celiac diagnosis because without DQ2 or DQ8, this country won't recognize it anyway.  Maybe in the future those genes will change, but right now it is what it is.

-When people ask me why I can't eat something with gluten, I'm still going to say that I tested positive for celiac disease.  They don't need to know which test.

-I really liked Melinda Dennis' idea of saying to a server at a restaurant that I follow a medically necessary gluten free diet. 

-Maybe in the future if they develop a test where they put your DNA/intestine into a petrie dish to see if it reacts, I'll entertain that idea.  A full blown gluten challenge would alienate me from my friends and family because of my terrible mood.

 

I've always been a curious person who wants to know why, and sometimes there isn't always an answer and that drives me nuts.  Before last year, I didn't even know what PubMed was, and now I realize what an awesome resource it is for celiac research and otherwise! 

 

At this point I've exhausted all my options, and so it's time to find my inner peace and let it go.  I'm simply going to say, "No gluten for this girl!"

[IrishHeart]

I am also a "I want to know why! " kind of person and research satisfies my curiosity most times.

 

They are always working on ways to better diagnose this thing, so perhaps in the future, there will be less hassle, less confusion, less people who fall through the cracks and less people left wondering WHY.

 

(and my very cool GI doctor told me he biopsied a man who was seronegative, neither a DQ2 or DQ8 and his villi were totally flat. He said symptoms were his guide in determining the medical necessity. We need more like him.) .

 

And for what it is worth, I think you have a most positive outlook and attitude and I think your username fits you to a T.

[powerofpositivethinking]

Thanks, Irish   My username at this time last year didn't fit me at all, but I've grown into it    I remember thinking that I needed to focus in general more on the positives in life, so that's why I chose it.  This last year has really taught me a lot about myself and that rough times will always ebb and flow, but life is a lot easier when you focus on the positives!  It also greatly helps when you realize your problems all along were caused by a tiny, little protein called gluten 

 

 

 

And for what it is worth, I think you have a most positive outlook and attitude and I think your username fits you to a T.

[nvsmom]

PoPT is a good name.   I think your drive to understand "why" will help you get better faster than most others. Actively researching and not just trusting in others can only help.... Okay, it can frustrate the researcher, but overall it's a good thing.  LOL

[IrishHeart]

  It also greatly helps when you realize your problems all along were caused by a tiny, little protein called gluten 

 

My hubs and I have discussed this often. Really...think about how bizarre it is that one food protein makes your own body attack itself

and can kill you if left unchecked. When I think about how really, really bad it got for me and how I actually looked and felt 20 years older

than I was...how I was wasting away and my brain deteriorated...(shudder!)

 

Seems more  like a plot for a cheesy sci-fi novel rather than a "real thing".