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Negative Celiac Dna Result


beebs

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beebs Enthusiast

Hi,

Has anyone tested negative for the celiac DNA test only to find out that they are celiac?

I have been unwell for some time, getting worse and worse. My mother was diagnosed a celiac 9 months ago after years of sickness. She didn't ever have the DNA screening test.

My Dr gave me the test and because it came back negative as far as he is concerned it's case closed.

The thing is that reading the symptoms of celiac disease is like reading the story of my life.

I had a c/section for twins 5 months ago and the symptoms have intensified.

I have always had what my mother referred to as a 'weak stomach', if I ate junk food I would get nauseated and vomit.

I'm 32year old female and mother of 3.

My symptoms are

* Nausea after rich, fatty or dairy foods...all it takes is a piece of chocolate or handful of fries

*bloating

*cramps

* Hairloss, I'm not sure if its because of the pregnancy but I am literally losing handfuls a day,it fills the sink

*floating stool

*alternates between constipation and frequent bowel movements

* gas

*it seems I've suddenly developed lactose intolerance

*weight loss (one month I lost 8 kilos without doing anything) 22 kilos since last year

*sugar cravings when tired and need energy

*dizzy spells

*fuzzy feeling in head - I find it hard to focus and concentrate

* memory loss that is getting worse

* bad joint pain in my hips and knees

* if I sit down or drive for more than 10 mins when I get up its like my legs have frozen up and I hobble around until my legs loosen up

*bad calf and foot cramps..they can be agony

* bone pain in my thighs, specially when I am finished for the day and relaxing on the couch before bed

* when I was 29 I was diagnosed with osteo-arthiritis but she (rheumatologist) was really surprised about it

*I was also diagnosed with non reynauds nipple vasospasm and told to get tested for autoimmune diseases as there is a connection

* anxiety disorder and panic attacks

* re-occurent middle ear infections, I average about 2 per year since I was 20 years old.

* asthma

*allergies including rhinitis and drug allergies

*re-occurrent fungal nail rot impossible to get rid of and had it since childhood

*ridges and white spots on finger nails

*prone to viruses, cough, colds, flu

*my tooth enamel is chipping off and generally really bad teeth even though I look after them well and have lots of calcium

*double vision

what do you guys think???

Thanks in advance


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mushroom Proficient

In Europe there are other genes associated with celiac, in addition to the two that are recognized in the U.S. Has the doctor given you the celiac blood panel test or endoscopy with biopsy? These are generally the first line testing for celiac and it sounds to be how your mother was diagnosed. I would request the blood test if I were in your shoes.

JillianLindsay Enthusiast

Hi & welcome,

The DNA test is not conclusive. Having the DNA alleles for celiac disease only mean you have a higher likelihood of developing the disease, not that you have it. Likewise, not having these alleles only means you don't have that particular genetic risk for celiac disease and you can certainly still have it.

The only way to know for sure is to get the celiac blood panel & biopsy done and then to start on the gluten-free diet. If you feel you don't need (or don't want) the blood panel and/or biopsy done, you can always try the gluten-free diet for at least 6 months to see if you experience improvement. For some people that is enough to commit to a lifetime of gluten-free eating :)

It's up to you to decide what is best for you. Good luck!

Jillian

beebs Enthusiast

Hiya,

I'm in Australia. My Dr didn't show me the results at all, just said that I didn't have genetic predisposition so we could "pretty much rule out celiac".

I am currently being treated for peptic ulcer-which is what my Dr thinks it is- to no avail.

I've had an abdo scan which didn't show anything.

My Dr seems to be an intolerance sceptic because I asked about gluten and lactose intolerance (after the negative dna test) and he started treating me for a peptic ulcer :huh:

I am nauseated after I eat but still feel hungry at the same time.

thanks for the replies...think I'll ask for a copy of my blood test to see if he tested for other things as well.

gf-soph Apprentice

There are things besides celiac that could be part of the problem, but your symptoms certainly could fit.

I don't know all that much about the genetic testing, but I understand that there are both common and uncommon genetic variations associated with celiac. They may have only tested for the most common variations, or it is possible that they will find other genes over time that we don't know about yet.

I wouldn't take a negative test as meaning it's 100% impossible that it's celiac, especially with your mother diagnosed.

I would definiately ask for the celiac blood panel. If it's negative, it's up to you in what direction you go, but false negatives are possible. You may also want to consider finding someone who is a little more open about this area, assuming you have other drs in the area. I think it's really important to know that your dr is going to look as hard as needed to find the problem, especially when you have been unwell for a long time.

You could contact the celiac society in your state and ask if they recommend any drs. I live in Sydney, if you do too I can recommend someone to you.

Hope you get some answers soon!

Sophie

beebs Enthusiast
There are things besides celiac that could be part of the problem, but your symptoms certainly could fit.

I don't know all that much about the genetic testing, but I understand that there are both common and uncommon genetic variations associated with celiac. They may have only tested for the most common variations, or it is possible that they will find other genes over time that we don't know about yet.

I wouldn't take a negative test as meaning it's 100% impossible that it's celiac, especially with your mother diagnosed.

I would definiately ask for the celiac blood panel. If it's negative, it's up to you in what direction you go, but false negatives are possible. You may also want to consider finding someone who is a little more open about this area, assuming you have other drs in the area. I think it's really important to know that your dr is going to look as hard as needed to find the problem, especially when you have been unwell for a long time.

You could contact the celiac society in your state and ask if they recommend any drs. I live in Sydney, if you do too I can recommend someone to you.

Hope you get some answers soon!

Sophie

Hi Sophie I live in Sydney too, so a recommendation would be great! Also other suggestions on what it could be would be great as well.....don't worry, I'm not looking for a diagnoses, just maybe an idea of what to do next....thanks!!!

VioletBlue Contributor

It is possible to have the DNA test done outside of a health plan. There are a couple labs that do it and you can purchase the test kit on line. It would be interesting to see what your mother's DNA looks like and that's one way to do it. Since you inherited one of your two genes from her it might help to compare her results with yours. The DNA tests don't test FOR specific gene variations, but rather test specific parts of your DNA. So your test results will most likely not be just a negative or a positive, a yes you have it or no you don't; but rather the test results will spell out which genes types were found at that location.

Go back to the doctor and ask for a copy of your DNA results. You have a right to that information. Then go online to a search engine and type in your gene types and learn more about it or them. Ironically the internet will have more up-to-date info than your doctor about genetics and gene types. There's also a very real chance that the doctor is misinformed about Celiac genes and believes you need a double copy or something.

They are beginning to realize that there may be other genes that can cause Celiacs as well, genes previously considered gluten sensitive genes only. It's also possible that your DNA test will show that you posses gluten sensitive genes in which case a gluten-free diet could make a world of difference too. But with all those symptoms you really do need to press your doctor to do more for you.

Hi,

Has anyone tested negative for the celiac DNA test only to find out that they are celiac?

I have been unwell for some time, getting worse and worse. My mother was diagnosed a celiac 9 months ago after years of sickness. She didn't ever have the DNA screening test.


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ravenwoodglass Mentor

Genetic testing when they only check for DQ2 or DQ8 is far from conclusive. My DD was told by some big city celiac doctor that she couldn't be celiac because she doesn't have one of those two genes. Even though she had previously been diagnosed at home by both postive blood and biopsy.

I am firmly diagnosed but at that point, five years into the diet, I choose to test my genes. It was then that I found I was a double DQ9. Those genes are not recognized as celiac genes here in the US, or they weren't at that time. They have recently 'discovered' another 7 genes in additon to the DQ2 and 8 but many doctors are not up on that research.

When you are done with all testing do the diet strictly for a while. Sometimes the body tells us what doctors tests can not.

beebs Enthusiast

Thanks for your responses...one more question. If I eventually did go gluten free for a trial I have heard that it becomes hard to introduce it back into your diet even if your not celiac/intolerant. Is that true of just an old wives tale? Thanks!

msharnoubi Newbie

Other than celiac some of your symptoms fit IBS and the other fit dairy allergy/intolerance (whether lactose or casein). Besides the two conditions frequently go together.

Or it could be Helicobacter pylori, check this Open Original Shared Link for symptoms.

Well these are the conditions I know of. I know there must be others. My point is don't narrow your choice to celiac. Because personally, I find it very improbable that you have it when DNA is negative.

ravenwoodglass Mentor
Thanks for your responses...one more question. If I eventually did go gluten free for a trial I have heard that it becomes hard to introduce it back into your diet even if your not celiac/intolerant. Is that true of just an old wives tale? Thanks!

That is an old wives tale. What you are describing is a gluten challenge and is a valid part of the diagnostic process. For those of us who don't show up in blood work, and that is up to 20%, it is one of the most important parts. If you feel relief from your symptoms gluten free and they recur when you start back on gluten your body is telling you that you shouldn't eat gluten.

ravenwoodglass Mentor
Other than celiac some of your symptoms fit IBS and the other fit dairy allergy/intolerance (whether lactose or casein). Besides the two conditions frequently go together.

Or it could be Helicobacter pylori, check this Open Original Shared Link for symptoms.

Well these are the conditions I know of. I know there must be others. My point is don't narrow your choice to celiac. Because personally, I find it very improbable that you have it when DNA is negative.

Unfortunately my doctors thought as you do. Except for the one who literally saved my life. It cost me greatly in years of pain. I agree that other things should be ruled out but a trial of the diet shouldn't be the last thing someone does.

kayo Explorer
In Europe there are other genes associated with celiac, in addition to the two that are recognized in the U.S.

What are the genes associated with celiac in Europe? I'm curious because I do not have the US recognized celiac genes DQ2 or DQ8 though I'm 110% sure I am celiac.

Other than celiac some of your symptoms fit IBS and the other fit dairy allergy/intolerance (whether lactose or casein). Besides the two conditions frequently go together.

Or it could be Helicobacter pylori, check this link for symptoms.

Well these are the conditions I know of. I know there must be others. My point is don't narrow your choice to celiac. Because personally, I find it very improbable that you have it when DNA is negative.

I have to disagree. IBS isn't a diagnosis, it's a cop out. Docs diagnose us with IBS because it's easy and they lack the knowledge and empathy to investigate further. If someone has IBS there's a reason behind it whether it be diet, celiac or Crohn's, etc. Dairy could definitely be an issue and so could soy, corn, potatoes, etc. This journey takes a lot of work and if docs were more understanding and helpful they could help us rather than hinder us from figuring these issues out.

I also disagree that if your DNA is 'negative' then you don't have celiac. DNA is just part of the puzzle and as we know there is still a lot to learn about DNA and auto-immune conditions.

mushroom Proficient
What are the genes associated with celiac in Europe? I'm curious because I do not have the US recognized celiac genes DQ2 or DQ8 though I'm 110% sure I am celiac.

Nora, who is from Norway, is our most knowledgeable person on the European-recognized genes associated with celiac. I, myself, unfortunately am a genetic ignoramus. It would be good if Nora popped in.

beebs Enthusiast
Well these are the conditions I know of. I know there must be others. My point is don't narrow your choice to celiac. Because personally, I find it very improbable that you have it when DNA is negative.

Oh yeah I know what you are saying regarding narrowing the search- I was thinking along the lines of intolerances or allergy as well. Although I do know up to 5% of people do not have the genetic link, so that is not really very unlikely.

Also I am being treated for peptic ulcer ie (H pylori) and am more than half way through the course with no improvement.

If treatment doesn't work for peptic ulcer I have a feeling my Dr will go down the intolerance route.

ravenwoodglass Mentor
Oh yeah I know what you are saying regarding narrowing the search- I was thinking along the lines of intolerances or allergy as well. Although I do know up to 5% of people do not have the genetic link, so that is not really very unlikely.

Also I am being treated for peptic ulcer ie (H pylori) and am more than half way through the course with no improvement.

If treatment doesn't work for peptic ulcer I have a feeling my Dr will go down the intolerance route.

Doctors seem to always start with the meds. IMHO they should rule out intolerances before putting folks on system altering drugs. Do make sure the med he gave is gluten free and if you are done testing for celiac then go ahead and start the diet. Celiac is strongly genetic and if your Mom has been diagnosed you are likely one of us also. It would help if your Mom got her genes tested, she may not have DQ2 or 8 either, as was discovered with myself. The diet will only interfere with testing for celiac. If another issue is causing the problems the diet won't help those or effect testing for other disorders. Ulcers are not an unusual finding when we have celiac, it was my DD primary problem so the GI was surprised when I insisted that he do biopsies for celiac and it was found that was what she had. He also rolled his eyes when I insisted that my ex husband be tested. He did it mainly to humor me. What a shock when the blood work came back postive.

nora-n Rookie

Hi, I have collected some postings and links about the issue.

Turns out there are several people here who either have other genes, or were mistyped, or they did not test for the trans-DQ2 (a more rare version of the celiac gene DQ2), or they did not test for the alpha chain in DQ2, 05*alpha which alone could be the marker.

Now your mother is a diagnosed celiac, and so I would think you are too but they missed it.

To read up on the HLA DQ genes (which by the way only account for about 40% of the risk), go to en.wikipedia.org and type in HLA DQ

then you can follow the links to DQ2 and DQ8.

HLA DR has some good charts too.

You see that the most common type of DQ2 is easiest to find, and the other kind, the trans DQ2 is less. (and we have seen postings here that make us believe that some labs do not even test for it)

DQ8 can even be missed by the tests.

DQ7 and DQ8 vary from DQ8 by just one molecule and they have found several DQ7 celiacs. They often have the 05* alpha chain.

Here is athread where I tried to decipher the issue: Open Original Shared Link (the forums kept deleting things because they do not allow links to other forums. I tried to keep a thred there as a eference since the forum was so slow-moving so one could find thin gs again. Here it is so fast-moving everything disappears...) Note everything is not neccessarily totally up-to date.

Here another thread: Open Original Shared Link

There are several negative people ut there.

Just go gluten-free and consicer yourself celiac if it fits, despite of negative tests, that easily miss people that should stay off gluten.

beebs Enthusiast

Thanks everyone for your great responses! I'm reading up on the DNA connection and I'm seeing that they don't know a great deal about the other less common genes involved.

The fact that I have non raynaud's nipple vasospasm has always had me wondering about autoimmune disease. I was diagnosed before my mother was diagnosed with celiac disease and I read a study where 13 women with the condition were tested, all but one were found to have an autoimmune disease or their immediate family did. Not enough people for a conclusive study but Weird right!?

I'm going to ask my mother to get her DNA tested as well. She never had hers tested because non of the Drs here entertained the idea. She was actually having a bowel biopsy because they suspected cancer, they took a little biopsy of the small intestine o a whim while they were in there and.. viola! Seems to be a common story!

I cannot believe that it is always assumed that no one could ever be celiac and gluten intolerant when it seems to affect a fair amount of people. I know 4 celiacs and if its 80% under diagnosed that means there are far more out there. Sigh!

Thanks again!!!

gf-soph Apprentice

hi beebs

i was going to pm the drs details but it didn't work, so details are...

The Dr I go to is moving practice, her name is Dr Margaret Hardy, and the practice will be at 3A pittwater rd (near intersection with victoria rd), gladesville. She will start working there after the 14th of Jan. Hope that's not too far away from you, but it's worth a bit of a trip. I would make a long appointment initially to discuss current areas of concern, and look at transferring any medical records if you do end up going there.

I saw her the first time by coincidence - I was there for something minor, but she took the time to ask me why i was so sick (constant anaemias and gastric upsets), she was the one who looked at my positive blood tests and told me to go gluten free (my biopsy had been negative and the gastro told me to not even try going gluten free!!). I was so impressed i transferred my records the next day!

I have seen a good dietician as well looking at food intolerances, her name is linda hodge and she works at the royal north shore medical centre in st leonards, as will as a practice in Wahroonga i think. There is also a food allergy and intolerance centre at RPA if that's closer to you (linda is allied with them). Also I am seeing a good immunologist who works in the same practise as linda, his name is Karl Baumgart. He also works as a pathologist for douglas henly moore, so he knows his stuff.

I hope you can find someone to look at the bigger picture, and not dismiss something that may help. I saw a terrible dr for about a year who really should be done for malpractise, i was terribly sick and he didn't know who i was from week to week! I've been gluten free for over a year and they are only now picking up other problems that have been making me sicker and sicker, if my dr didn't listen to me I don't know what sort of state i'd be in!

Best of luck,

Sophie

beebs Enthusiast
hi beebs

i was going to pm the drs details but it didn't work, so details are...

The Dr I go to is moving practice, her name is Dr Margaret Hardy, and the practice will be at 3A pittwater rd (near intersection with victoria rd), gladesville. She will start working there after the 14th of Jan. Hope that's not too far away from you, but it's worth a bit of a trip. I would make a long appointment initially to discuss current areas of concern, and look at transferring any medical records if you do end up going there.

I saw her the first time by coincidence - I was there for something minor, but she took the time to ask me why i was so sick (constant anaemias and gastric upsets), she was the one who looked at my positive blood tests and told me to go gluten free (my biopsy had been negative and the gastro told me to not even try going gluten free!!). I was so impressed i transferred my records the next day!

I have seen a good dietician as well looking at food intolerances, her name is linda hodge and she works at the royal north shore medical centre in st leonards, as will as a practice in Wahroonga i think. There is also a food allergy and intolerance centre at RPA if that's closer to you (linda is allied with them). Also I am seeing a good immunologist who works in the same practise as linda, his name is Karl Baumgart. He also works as a pathologist for douglas henly moore, so he knows his stuff.

I hope you can find someone to look at the bigger picture, and not dismiss something that may help. I saw a terrible dr for about a year who really should be done for malpractise, i was terribly sick and he didn't know who i was from week to week! I've been gluten free for over a year and they are only now picking up other problems that have been making me sicker and sicker, if my dr didn't listen to me I don't know what sort of state i'd be in!

Best of luck,

Sophie

Thanks sophie!!! your dr sounds great..its not too far to gladesville, but I am 5 minutes from RPA so i'm hoping to get a referral to there as well!

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