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I Like Our Doctor For Other Reasons And Don't Want To Switch....


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#16 kareng

 
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Posted 27 April 2014 - 07:17 PM

Interesting discussion!
A question for IrishHeart to round out the discussion on the utility of gene tests....and the slight chance of having celiac with non DQ2 or DQ8 (RE the "rare" person who could have celiac without DQ 2 or DQ 8....)
What I had come across was some primary research published in Oxford Journals, April 2000 International Immunology ("The structure of Celiac Disease...epitopes"). and some primary research in 2012 (from Norway, I'd have to look it up again and I still haven't figured out the cut and paste function!), both suggesting DQ9 could potentially be celiac pre-disposing. I realize these were not definitive, but still worth keeping an open mind about IMO.
So I'm trying to understand. My take had been: if you have celiac, you most likely have Beta DQ2 or DQ8 or both, but there is a chance (albeit small, if 1% is small - hey, that's about the same rate as celiac occurs in the general population!), you could have other genes such as DQ 9 and maybe even DQ7, or that perhaps your Alpha typing should have been reported (?). It seems plausible to me that there is still some more to the genetic story and that possibly DQ9 could play a role, given how similar the structure seems to be to DQ8.
I'm not pretending this to be my area. But, I raise it because as soon as it is said "impossible without DQ 2 or DQ8, the rest of the conversation gets dropped.

I also wonder: how reliable are the swab tests? Are these highly observer dependent?
Nothing is ever a perfect answer, but personally, I'm not ruling it out based on a DQ7, DQ9 typing in either my daughter or myself.

For our part, my daughter will go for blood tests soon once she completes the gluten challenge, and a scope if required. It will be interesting to see what transpires even tho' she is said to have DQ7 and DQ9.

Curious what course Ruth pursues.

Maybe that is an argument you could take up with the Univ of Chicago, Dr. Fasano and some of the other researchers? IH didn't make the discovery. She & I just report the current info from reputable Celiac centers and researchers. :)

As for the swab tests - are you asking if you would miss some of the DNA by not swabbing properly? I don't see how that is possible? My gene test was a blood test.
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Once again, we come to the Holiday Season, a deeply religious time that each of us observes, in his own way, by going to the mall of his choice. - Dave Barry
 
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“One can never have enough socks," said Dumbledore. "Another Christmas has come and gone and I didn't get a single pair. People will insist on giving me books.”  - J.K. Rowling, Harry Potter and The Sorcerer's Stone
 
 
 
 
 

 


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#17 IrishHeart

 
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Posted 28 April 2014 - 04:43 AM

tri-gal

It was once suspected that I had ankylosing spondyloarthropy, based on my symptoms. (this was before my celiac diagnosis when I was in agonizing pain from the unDXed celiac disease). The rheumatologist, to his credit, ran the HLA-B27 test and told me that if I did not carry that gene, it was unlikely I had SA. It was negative. And I thanked the heavens because that is not an autoimmune disease that is treatable. It is a painful condition. The OA I have is painful enough, but I was grateful to exclude the SA.

 

If the genetic test for celiac--which is considered by the leading celiac researchers to be about as foolproof as it gets--is negative, I am not sure

that I would put myself (or my child)  through a gluten challenge for months--or worse, an invasive procedure based on that extremely slim possibility. This IMHO, okay?

 

I mean how sick is this child eating all that gluten? Maybe she has NCGS--which is treatable with a gluten-free diet. It seems to me as if you are actually hoping it is celiac and looking for a "loophole" in the genetic testing. 

I am perplexed by this because I wouldn't wish this disease on anyone and if i were told I did not have a life-treatening AI disease, I'd be thrilled.  :)

 

This is your life and you can do what you think is best, of course!

But I will reiterate once more that Enterolab testing for IgG4 antibodies to foods --is NOT a diagnostic tool and I will be interested to hear if a pediatric gastroenterologist will be willing to do that procedure based on those tests if the celiac panel is negative.

 

If the celiac panel comes back positive, I hope this doctor follows through and rules out OTHER reasons why the TtG may be elevated. Several other AI conditions may cause this, including liver and thyroid disease.

 
In the absence of DQ2 and DQ8, he darn well better do more checking or he may be overlooking other AI conditions that require treatment. 

 

And if the biopsy is positive for villous blunting, he had better make sure it is not because of 10+ other autoimmune conditions reasons why that occurs too. 

 

Causes of Villous Atrophy Other Than Celiac Disease

  • Giardiasis
  • Collagenous sprue
  • Common-variable immunodeficiency
  • Autoimmune enteropathy
  • Radiation enteritis
  • Whipple’s disease
  • Tuberculosis
  • Tropical sprue
  • Eosinophilic gastroenteritis
  • Human immunodeficiency virus enteropathy
  • Intestinal lymphoma
  • Zollinger–Ellison syndrome
  • Crohn’s disease
  • Intolerance of foods other than gluten (e.g., milk, soy, chicken, tuna)

So a combo of the "positive blood test" and "a positive biopsy" still may not mean celiac.

 

The genetic test would be the tie breaker, so to speak.

 

If he decides it truly is celiac,  then your daughter's case should be referred to Dr. Fasano or Dr. Murray or Dr. Guandalini, because it is truly rare. 


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"Life is not the way it's supposed to be. It's the way it is. The way we cope with it makes the difference." Virginia Satir

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"If you want to lift yourself up, lift up someone else" Booker T. Washington

“If idiots could fly, the sky would be like an airport.”― Laura Davenport 

"Do or do not. There is no try. "-  Yoda.

"LTES"  Gem 2014

 

Misdiagnosed for 25+ years; Finally Diagnosed with Celiac  11/01/10.  Double DQ2 genes. This thing tried to kill me. I view Celiac as a fire breathing dragon --and I have run my sword right through his throat.
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#18 BlessedMommy

 
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Posted 28 April 2014 - 04:57 AM

My decision at this point is that we're going to order genetic testing. If my daughter doesn't have the genes for celiac, we're not going to bother with the whole discussion with the doctor. If the leading celiac researchers say that it's not possible to have or develop celiac without the D2 or D8 genes, then I'm going to consider that a "rule out" tool. 

 

If she does have one or both of the genes, then we'll pursue further testing. If she ends up having celiac, we'll probably pursue testing for my younger child as well. 

 

Which gene testing is inexpensive but still reliable?


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#19 IrishHeart

 
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Posted 28 April 2014 - 05:01 AM

My decision at this point is that we're going to order genetic testing. If my daughter doesn't have the genes for celiac, we're not going to bother with the whole discussion with the doctor. If the leading celiac researchers say that it's not possible to have or develop celiac without the D2 or D8 genes, then I'm going to consider that a "rule out" tool. 

 

If she does have one or both of the genes, then we'll pursue further testing. If she ends up having celiac, we'll probably pursue testing for my younger child as well. 

 

Which gene testing is inexpensive but still reliable?

 

 

Ruth, 

Why didn't your doctor order the genetic test for you in the first place? just curious because I think he should have, IMHO

 

There are blood tests that your doctor can order. I paid out of pocket for the saliva test, but later, my GI doc insisted we go with the blood work genetic test. My insurance covered that test so i am not sure what it cost, but I know the co-pay was $80. He thought it was more accurate, It rendered the same result.. 


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"Life is not the way it's supposed to be. It's the way it is. The way we cope with it makes the difference." Virginia Satir

"The strongest of all warriors are these two - time and patience." Leo Tolstoy

"If you want to lift yourself up, lift up someone else" Booker T. Washington

“If idiots could fly, the sky would be like an airport.”― Laura Davenport 

"Do or do not. There is no try. "-  Yoda.

"LTES"  Gem 2014

 

Misdiagnosed for 25+ years; Finally Diagnosed with Celiac  11/01/10.  Double DQ2 genes. This thing tried to kill me. I view Celiac as a fire breathing dragon --and I have run my sword right through his throat.
I. Win. bliss-smiley-emoticon.gif


#20 kareng

 
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Posted 28 April 2014 - 05:08 AM

My decision at this point is that we're going to order genetic testing. If my daughter doesn't have the genes for celiac, we're not going to bother with the whole discussion with the doctor. If the leading celiac researchers say that it's not possible to have or develop celiac without the D2 or D8 genes, then I'm going to consider that a "rule out" tool. 

 

If she does have one or both of the genes, then we'll pursue further testing. If she ends up having celiac, we'll probably pursue testing for my younger child as well. 

 

Which gene testing is inexpensive but still reliable?

 

 

I used Quest diagnostics for the blood test.  You can call them and ask how much.  I would pick a reputable lab like Quest.  I think it was $260? Quest filed it with  my insurance and they actually paid for all but $25!


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Once again, we come to the Holiday Season, a deeply religious time that each of us observes, in his own way, by going to the mall of his choice. - Dave Barry
 
“The main reason Santa is so jolly is because he knows where all the bad girls live.”  - George Carlin
 
“One can never have enough socks," said Dumbledore. "Another Christmas has come and gone and I didn't get a single pair. People will insist on giving me books.”  - J.K. Rowling, Harry Potter and The Sorcerer's Stone
 
 
 
 
 

 


#21 BlessedMommy

 
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Posted 28 April 2014 - 05:16 AM

Ruth, 

Why didn't your doctor order the genetic test for you in the first place? just curious because I think he should have, IMHO

 

There are blood tests that your doctor can order. I paid out of pocket for the saliva test, but later, my GI doc insisted we go with the blood work genetic test. My insurance covered that test so i am not sure what it cost, but I know the co-pay was $80. He thought it was more accurate, It rendered the same result.. 

 

 After my hospitalization, he just said, "Stay away from gluten, but small amounts probably won't bother you." :wacko:  (as if, a person who has just had a TIA and been unable to speak correctly really wants to see what threshold of gluten could cause that again  :ph34r: )I'm not sure how much he really knows about things, although when I first brought in my photos of my skin rash, he said that wheat commonly causes that symptom. 

I'm guessing that his knowledge on celiac and NCGI is a bit below where it could be, although I really like him for other reasons.

I really wish that I had more of a DX and I think that genetic testing isn't a bad idea.


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~Ruth

Gluten free since 2/14/2010 after suffering a rare and serious complication from my gluten challenge

 

 

 

 

 

 


#22 BlessedMommy

 
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Posted 28 April 2014 - 05:16 AM

Can you order lab work from Quest without your doctor's referral? (for self pay patients, not for insurance covered stuff)


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~Ruth

Gluten free since 2/14/2010 after suffering a rare and serious complication from my gluten challenge

 

 

 

 

 

 


#23 tri-gal

 
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Posted 28 April 2014 - 05:19 AM

My daughter is on the gluten challenge because her symptoms are vague and to the outside world she seems "fine". However, she has enamel issues and intestinal issues, and other vague symptoms that cause me to want to seek a diagnosis now rather than wait. (It all sounds  a little like BlessedMommy's situation, I think).  For myself, I had terrible onset of symptoms post-partum which resolved gluten free (I also had missing enamel from childhood, late menses and other signs from then). I went gluten free to help my nursing toddler who showed very obvious problems with gluten. thus, I am now on high alert for my kids.

I don't want my daughter to have celiac disease, but I do want the correct diagnosis, if I'm going to be worrying about every crumb in her diet and setting her up gluten free for life. 

As for my query on swab gene tests, I was  wondering if swab tests are as accurate as blood tests? in terms of being able to see the genetic structure as readily (not a question of missing a gene, per se).  I don't know how they are done, but presumably, the cells are examined under a microscope.


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#24 kareng

 
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Posted 28 April 2014 - 05:20 AM

Can you order lab work from Quest without your doctor's referral? (for self pay patients, not for insurance covered stuff)

 

 

You might call them and ask.  I think in some places you can.  Not up to date on these laws any longer.  When I had mine done, I made sure they sent a copy of the results to me and to the doctor.  If you need a doc to order them, and you don't want to ask this doc, your OB/GYN could order it, too - if you have an agreeable one.  I just told my doc I wanted to do one & knew I might have to pay for it.  She wrote an order.


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santa-dance.gif

 

Once again, we come to the Holiday Season, a deeply religious time that each of us observes, in his own way, by going to the mall of his choice. - Dave Barry
 
“The main reason Santa is so jolly is because he knows where all the bad girls live.”  - George Carlin
 
“One can never have enough socks," said Dumbledore. "Another Christmas has come and gone and I didn't get a single pair. People will insist on giving me books.”  - J.K. Rowling, Harry Potter and The Sorcerer's Stone
 
 
 
 
 

 


#25 BlessedMommy

 
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Posted 28 April 2014 - 05:21 AM

I don't want my daughter to have celiac disease, but I do want the correct diagnosis, if I'm going to be worrying about every crumb in her diet and setting her up gluten free for life. 

This is true for me as well, except for in my case it's virtually impossible to set her up totally gluten-free without a celiac DX, because of her and others' lack of compliance. 


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~Ruth

Gluten free since 2/14/2010 after suffering a rare and serious complication from my gluten challenge

 

 

 

 

 

 


#26 BlessedMommy

 
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Posted 28 April 2014 - 05:22 AM

You might call them and ask.  I think in some places you can.  Not up to date on these laws any longer.  When I had mine done, I made sure they sent a copy of the results to me and to the doctor.  If you need a doc to order them, and you don't want to ask this doc, your OB/GYN could order it, too - if you have an agreeable one.  I just told my doc I wanted to do one & knew I might have to pay for it.  She wrote an order.

 

Now that's interesting! I actually didn't have an OB (I had homebirths with a midwife) but my midwife works with a lab, maybe she could order it for me if they didn't want to order it direct.


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~Ruth

Gluten free since 2/14/2010 after suffering a rare and serious complication from my gluten challenge

 

 

 

 

 

 


#27 kareng

 
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Posted 28 April 2014 - 05:29 AM

Now that's interesting! I actually didn't have an OB (I had homebirths with a midwife) but my midwife works with a lab, maybe she could order it for me if they didn't want to order it direct.

 

 

Sometimes OB/Gyn types are more agreeable to this stuff.  Especially if you want to maybe have another baby.  It is important to know about Celiac disease in that case.


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santa-dance.gif

 

Once again, we come to the Holiday Season, a deeply religious time that each of us observes, in his own way, by going to the mall of his choice. - Dave Barry
 
“The main reason Santa is so jolly is because he knows where all the bad girls live.”  - George Carlin
 
“One can never have enough socks," said Dumbledore. "Another Christmas has come and gone and I didn't get a single pair. People will insist on giving me books.”  - J.K. Rowling, Harry Potter and The Sorcerer's Stone
 
 
 
 
 

 


#28 BlessedMommy

 
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Posted 28 April 2014 - 05:35 AM

How reliable are dna swabs versus the bloodwork?


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~Ruth

Gluten free since 2/14/2010 after suffering a rare and serious complication from my gluten challenge

 

 

 

 

 

 


#29 StephanieL

 
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Posted 28 April 2014 - 09:29 AM

DNA is DNA. It's in every cell of your body so I don't think it would matter swab vs. blood. They use cheek swabs for police investigations so I would think that would be good enough for a Celiac gene test as well.


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#30 Gemini

 
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Posted 29 April 2014 - 11:54 AM

DNA is DNA. It's in every cell of your body so I don't think it would matter swab vs. blood. They use cheek swabs for police investigations so I would think that would be good enough for a Celiac gene test as well.

Thank you, Stephanie, for answering this question.  You beat me to it!  I think any difference in testing preference might be the amount of gene testing being done.  Maybe if a doctor is doing gene testing on a number of suspected conditions, they might prefer the blood test.  If you just want to know if you carry either DQ-2 or DQ-8, then go with the cheek swab.  That's what I did and how I found out I have a double Celiac gene.  After all, they can extract enough DNA off of a cigarette butt to convict someone of murder so I'm thinking the cheek swab is highly acceptable!  ;)


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