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Well, Results Of Genetic Testing In...


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#1 Ninja

 
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Posted 17 January 2013 - 10:54 PM

I had a nice meeting with my GI doctor a few weeks ago. I agreed to undergo the genetic testing (vitamin d was checked as well). I was hoping to be able to come back here and post about finally receiving validation via positive genetic testing. It all seemed to make sense. Multiple Sclerosis, osteoporosis, short stature, gum disease, vitamin deficiencies and most importantly, GI and stomach issues all run in both sides of my family. On top of that both sides of my family are very new to the U.S. Both come from Europe - Germany, Czech Republic and Sweden. However, I was informed yesterday that the genes (something about three? Nurse wasn't very knowledgable) they did test for, were/are absent. I will get my hands on the results just so that I can see with my own eyes... and I intend to find out which genes I DO have.

I was so hoping for some validation. I'm done fighting with these medical personnel. I'm done questioning my own body on the basis of these tests. I was so sure that it was true celiac. The results I've had... and all the people I've told about my "celiac" - I can't help but feel as though I've lied to them all (along with myself)! I should be happy, but I just wanted some validation, an answer.

I was diagnosed "probable celiac" and the genetic testing was to confirm (I have not spoken to my GI doctor since receiving the results - supposed to go back in the summer). It's so silly that I am upset about this, but I'm tired of searching for answers, and I'm tired of not being taken seriously.

Thank you all,
Laura
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#2 mushroom

 
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Posted 17 January 2013 - 11:21 PM

The usual genes they test for are DQ2 and DQ8; there are, however, other genes recognized as celiac genes in Europe. Do you know if any of your relatives have had genetic testing? or even celiac testing?

In the meantime, I would continue to call myself 'celiac' to increase the chance of being taken seriously. No one can prove you are not.
  • 3
Neroli


"Everything that can be counted does not necessarily count; everything that counts cannot necessarily be counted." - Albert Einstein

"Life is not weathering the storm; it is learning to dance in the rain"

"Whatever the question, the answer is always chocolate." Nigella Lawson

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Caffeine free 1973
Lactose free 1990
(Mis)diagnosed IBS, fibromyalgia '80's and '90's
Diagnosed psoriatic arthritis 2004
Self-diagnosed gluten intolerant, gluten-free Nov. 2007
Soy free March 2008
Nightshade free Feb 2009
Citric acid free June 2009
Potato starch free July 2009
(Totally) corn free Nov. 2009
Legume free March 2010
Now tolerant of lactose

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#3 ravenwoodglass

 
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Posted 18 January 2013 - 06:20 AM

There are more genes associated with celiac than just the ones for which they usually check. What tests were done that gave you the probable celiac diagnosis? If you are doing welll on the diet don't let the negative gene panel stop you from sticking with it. Your body's response is at present the best diagnosis we have.
  • 2
Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

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

#4 Celiac Mindwarp

 
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Posted 18 January 2013 - 08:37 AM

I got diagnosed non celiac gluten intolerance, cannot rule out celiac. I am waiting for the genetic results, which I know have been dictated and are waiting to be typed and sent. Will I be disappointed if they are negative? Yes. Will it change being gluten-free? No. It explains too much. Plus they don't really understand ncgi yet.

I will continue to call myself celiac until.medical science science catches up and gives me a better explanation.

If anyone really wants to know I will say more, but I feel fine about where I am.

Good luck, go with your gut!
  • 3
- Symptoms from 2001, maybe before. Across 20+ years, these have included, vomiting, D, migraines, headaches, recurrent miscarriage, inflammation problems (failure to heal from injuries) brain fog, anxiety and more!
- Elimination diet using Atkins, 2003 – excluded wheat, caffeine, quorn. 2005, excluded sesame, alcohol
- Started diagnosis route April 2012, blood tests, endoscopy – said negative, gluten challenge, clearly something very wrong, had to stop after 3 weeks.
- Gluten Free, August 2012, Corn Free, September 2012. Removed most processed gluten free foods.
- Genetic testing, December 2012 – negative – Diagnosis – Non Celiac Gluten Intolerance (NCGI)
- Elimination diet, January 2013 – all of the above plus dairy, legumes, all grains, sugar, additives, white potatoes, soy. Reintroducing sloooowly now. Health improving.
It's not that I'm so smart, it's just that I stay with problems longer. ~Albert Einstein Posted Image

#5 Ninja

 
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Posted 18 January 2013 - 12:30 PM

I was diagnosed probable Celiac because of my amazing results (and gluten symptoms)! All of my symptoms were classic celiac symptoms - my results post gluten-free indicate that I was not absorbing nutrients efficiently (or well) at all. It all just looked so much like celiac to the GI that he was willing to dx based on that. Amongst the conversation I didn't even go into the family history of AI diseases.

I don't know anything about most of my family. Most of my relatives are still living back in Europe...so I don't know whether any of them have been gene tested or tested for celiac.

Celiac Mindwarp - Thanks. May I ask where/how you are doing the genetic testing?
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Let the soul speak with the silent articulation of a face

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#6 Madagascar

 
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Posted 18 January 2013 - 09:24 PM

what lab did your genetic testing? the Univ of Chicago's celiac center has a great website, including an e-book on the bottom of the home page. In one spot on their site, they recommended Prometheus Labs and the Mayo Clinic Lab. I think it was on the e-book they added a 3rd lab, but i don't remember the name. If you didn't use one of those, i would wonder about its accuracy.

Also, as someone mentioned, in Europe they test for 23 genes. In North America they test for 2 genes.

My results came back from Prometheus and it said i had the "Celiac Risk Genes Detected: DQ2.2 (HLA DQA and DQB) "and other non-risk alleles." But then they said that the DQ2 is a low-risk gene, and the report says "Celiac Disease unlikely. Does not preclude development of the disease." I don't have any doubt that i've got it - way too many symptoms and some of the antibodies. The celiac specialist that i've been seeing says that if you have the gene, you have it, that it doesn't matter where it is located.

i think you'll know better once you've seen the report. you might have gotten something like what i'm mentioning above, where their interpretation is added and the interpretation might be incorrect.
  • 1
Childhood: canker sores, zillions of cavities, and multiple dental enamel defects (not decay). Acne began at age 9, became cystic acne at 15ish, was bad til early 20's, occasional break-outs now only if i eat certain foods.
1968 - allergic to bacon (arm rashes) & orange juice; sensitive to soy
1970s - lots of digestive problems, allergy to citrus, citric acid, cinnamon, lactose intolerant, rosacea from foods
1980s - allergic to oregano, basil, thyme, pork, strawberries, paprika, smokehouse-type seasonings, peppers
1990s - discovered digestive enzymes (YAY!) and my stomach issues resolved by 90%
2012 - diagnosed with celiac via blood tests (tTG) and genes (HLA DQA1*0201: DQB1*0202)
After learning about celiac, it is obvious my mom had it (ulcerative colitis), my brother has it, and my 3 young adult children have it (2 have digestive problems + anxiety; one has DH). we all went gluten-free november 2012.

#7 gatita

 
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Posted 19 January 2013 - 10:07 AM

Ninja, I understand your disappointment! But you don't have to feel like you're lying to anyone. Whether you have celiac or NCGI, it's still a serious "disease" that can be very debilitating if not treated by going gluten-free.

Look at it this way: most people (including doctors) still don't have a clue about gluten intolerance. In some situations, like in restaurants, we may have to call it a "wheat allergy" so waiters get that they have to be careful. With others, we may have to call it celiac, so they'll get that it's a lifetime affliction. Other friends and relatives who are more knowledgeable might be able to hear the whole non-celiac gluten intolerance spiel and be able to grasp its gravity.

Bottom line is it's still a serious health matter and you have the right to expect others to take it seriously, too. Whatever it's called.
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Diagnosed with wheat hates me 4/13


#8 Celiac Mindwarp

 
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Posted 19 January 2013 - 01:22 PM

Ninja
I'm in the UK so had the test done via the GI on the NHS. Sadly here we just seem to get the same 2 genes tested as in the USA. Maybe I could have an excuse for a trip somewhere nice if my tests are negative. The advice on testing above looks good to me.

I am definitely in the crowd that says judge by response to gluten-free diet. It is worth being aware that many gluten-free replacement foods are as unhealthy as their gluten counterparts, and eating good unprocessed foods can make a world of difference.

Good luck :)
  • 2
- Symptoms from 2001, maybe before. Across 20+ years, these have included, vomiting, D, migraines, headaches, recurrent miscarriage, inflammation problems (failure to heal from injuries) brain fog, anxiety and more!
- Elimination diet using Atkins, 2003 – excluded wheat, caffeine, quorn. 2005, excluded sesame, alcohol
- Started diagnosis route April 2012, blood tests, endoscopy – said negative, gluten challenge, clearly something very wrong, had to stop after 3 weeks.
- Gluten Free, August 2012, Corn Free, September 2012. Removed most processed gluten free foods.
- Genetic testing, December 2012 – negative – Diagnosis – Non Celiac Gluten Intolerance (NCGI)
- Elimination diet, January 2013 – all of the above plus dairy, legumes, all grains, sugar, additives, white potatoes, soy. Reintroducing sloooowly now. Health improving.
It's not that I'm so smart, it's just that I stay with problems longer. ~Albert Einstein Posted Image

#9 Ninja

 
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Posted 19 January 2013 - 02:24 PM

Thank you guys! :-) I hadn't thought about the mis-interpretation as a possible issue... this doctor's office has been known to do that (mostly because they don't know much about celiac disease at all). More reason for me to pursue further and pick up the actual results.

ACL laboratory was used? When I dropped the sheet off, the lady had to look up to see whether they actually offered/ran the gene test. I've been doing more reading and found that DQ7 is beginning to be considered a gene that is associated with celiac, but they do not test for it yet because it is not widely accepted? (DQ7 and DQ2,2 make the DQ2.5 I believe, but this study refereed to DQ7's contribution in individuals without DQ2 or DQ8 in the alpha or beta chain). I keep wanting to trust the doctors. :/
  • 0

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Let the soul speak with the silent articulation of a face

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#10 Celiac Mindwarp

 
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Posted 21 January 2013 - 04:03 AM

Hiya Ninja
Got my genetic test results today, mine is negative too. I think that s good news?? No way I am going back to eating gluten now. The GI said may be IBS or non celiac gluten intolerance. I am with ncgi, but happy to describe it as celiac if it makes it easier.

So - you are definitely not alone :)
  • 0
- Symptoms from 2001, maybe before. Across 20+ years, these have included, vomiting, D, migraines, headaches, recurrent miscarriage, inflammation problems (failure to heal from injuries) brain fog, anxiety and more!
- Elimination diet using Atkins, 2003 – excluded wheat, caffeine, quorn. 2005, excluded sesame, alcohol
- Started diagnosis route April 2012, blood tests, endoscopy – said negative, gluten challenge, clearly something very wrong, had to stop after 3 weeks.
- Gluten Free, August 2012, Corn Free, September 2012. Removed most processed gluten free foods.
- Genetic testing, December 2012 – negative – Diagnosis – Non Celiac Gluten Intolerance (NCGI)
- Elimination diet, January 2013 – all of the above plus dairy, legumes, all grains, sugar, additives, white potatoes, soy. Reintroducing sloooowly now. Health improving.
It's not that I'm so smart, it's just that I stay with problems longer. ~Albert Einstein Posted Image

#11 Ninja

 
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Posted 21 January 2013 - 07:52 AM

CM - Like you said: cannot rule out celiac, because they can't! I've been doing more reading and testing for only 2 genes IS absurd. From what I know about my test results, they only looked for DQ2.5 and DQ8. I think I remember reading that your doctor did something similar? Are you going to ask for a copy of the results?

I also went through my blood work again and found a couple really strange phenomenons. Coincidentally, the changes occurred right around the same time I started having symptoms - they're also characteristic of an autoimmune disease. I can only hope that someday there will be better and more accurate testing, and better and more accurate doctors to go with. For now, celiac makes too much sense, yea?
  • 0

Gluten Free 2/12 

 

Let the soul speak with the silent articulation of a face

~Rumi
 

 


#12 Celiac Mindwarp

 
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Posted 21 January 2013 - 10:46 AM

I am with you, I just have so many of the symptoms. I did a gluten challenge last year and it was awful, totally wiped me out, took 4 months to get over. I am trying to get my head round the genetic testing. I asked for full results, but didn't get them, think I will request in writing.

So, just hanging out waiting for medical science to catch us up. I am sure if there was money to be made from celiac and ncgi we would both have a diagnosis by now...

I guess we will see a bit of each other hanging out here then :)
Mw
  • 2
- Symptoms from 2001, maybe before. Across 20+ years, these have included, vomiting, D, migraines, headaches, recurrent miscarriage, inflammation problems (failure to heal from injuries) brain fog, anxiety and more!
- Elimination diet using Atkins, 2003 – excluded wheat, caffeine, quorn. 2005, excluded sesame, alcohol
- Started diagnosis route April 2012, blood tests, endoscopy – said negative, gluten challenge, clearly something very wrong, had to stop after 3 weeks.
- Gluten Free, August 2012, Corn Free, September 2012. Removed most processed gluten free foods.
- Genetic testing, December 2012 – negative – Diagnosis – Non Celiac Gluten Intolerance (NCGI)
- Elimination diet, January 2013 – all of the above plus dairy, legumes, all grains, sugar, additives, white potatoes, soy. Reintroducing sloooowly now. Health improving.
It's not that I'm so smart, it's just that I stay with problems longer. ~Albert Einstein Posted Image

#13 Ninja

 
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Posted 21 January 2013 - 06:30 PM

I completely agree! If celiac meant taking 1 pill everyday I'm sure we'd have been diagnosed ages ago! Running the tests is easy, but diagnosing without them is the true test, IMO.

I wish it weren't so hard to fight for what we need amongst those who are supposed to fight with us. However, we can ban together and wait and wait and wait for the doctors to tell us that we were right all along (like you've mentioned). :)

I'm so sorry to hear about the gluten challenge. I guess if you weren't convinced, you are now. :ph34r:
  • 1

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Let the soul speak with the silent articulation of a face

~Rumi
 

 


#14 Ninja

 
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Posted 29 January 2013 - 11:34 AM

Update: They tested for the "high-risk" alleles: HLA-DQA1*05, HLA-DQB1*02 and HLA-DQ*03:02 I translate this to mean that they tested for the alpha chain of DQ2.5, the beta chain of DQ2.5 and DQ2.2 and the alpha and beta chain of DQ8. Is this correct?
  • 0

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Let the soul speak with the silent articulation of a face

~Rumi
 

 


#15 Madagascar

 
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Posted 30 January 2013 - 07:03 PM

i don't know the answer to your question, but am wondering if you were also checked for antibodies.

the whole thing of testing is very interesting. through an error, my blood sample was sent to Peace Health labs first, then the exact same blood sample was sent to Prometheus. The genetic testing was only through Prometheus. The antibodies were done by both - and the results do not match.

for example, the tTG test through Prometheus was 1.3u/ml, with a reference range of <10.3 U/ml. that would say a pretty clear negative.

the tTG test through Peace Health was 29, with <20 negative, 20-30 weak positive and >30 positive. That's so close to a definite positive, it would say positive.

how to explain it? it was the exact same blood draw sent to both places. I think it just says the testing is not the whole story. i'd go with your gut (little pun) and if you improve on a gluten-free diet, just stick with it.
  • 0
Childhood: canker sores, zillions of cavities, and multiple dental enamel defects (not decay). Acne began at age 9, became cystic acne at 15ish, was bad til early 20's, occasional break-outs now only if i eat certain foods.
1968 - allergic to bacon (arm rashes) & orange juice; sensitive to soy
1970s - lots of digestive problems, allergy to citrus, citric acid, cinnamon, lactose intolerant, rosacea from foods
1980s - allergic to oregano, basil, thyme, pork, strawberries, paprika, smokehouse-type seasonings, peppers
1990s - discovered digestive enzymes (YAY!) and my stomach issues resolved by 90%
2012 - diagnosed with celiac via blood tests (tTG) and genes (HLA DQA1*0201: DQB1*0202)
After learning about celiac, it is obvious my mom had it (ulcerative colitis), my brother has it, and my 3 young adult children have it (2 have digestive problems + anxiety; one has DH). we all went gluten-free november 2012.




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