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Genes Testing

beebs

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beebs Enthusiast
beebs
Posted

Hi guys,

I have read a few posts on here lately that have talked about how there are far more genes associated with celiac than just those two common ones.

I had the genes test and came back negative for the two common ones so as far as my Dr is concerned case closed for celiac.

My mother is celiac diagnosed by biopsy. Two of my children have celiac symtpoms and one has just had an endo and the other is due to.

I myself have connective tissue stuff - possibly Lupus/Sjogren's or some other type may get classified as Undefined connective tissue disorder because I have lost of symtpoms but negative bloods.

I have also lost about 50 pounds without doing anything. And I have real problem swallowing certain foods (breads, muffins etc) It comes back up and I have to swallow and reswallow and finally it goes down (think homer simpsons and the "just working the turkey" through bit) and I get this mucous thing happening, where it comes up and pushes the food back out - so gross. I also developed lactose intolerance last year that lasted about 6 months and then went away. I have also had three episodes of agonising gut pain - on par with labour, lasts for a couple of hours. I am sposed to be having an Endo (but am pregnant so theyy are waiting till the baby comes) I have GORD and take medication for it everyday.

So my question is - is there anything anyone can tell me about these other genes? I have just thought there is no way its celiac because my Dr said I was negative for the Genes.

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ravenwoodglass Mentor
ravenwoodglass
Posted

Has your Mom had her genes tested? She may not have one of those 2 genes either. Are you following the diet? If not you should give it a good strict try after you are done with any other testing. It is quite possible to have issues with gluten and/or be a diagnosed celiac without either of those two genes. I am someone that fits the celiac without DQ2 or DQ8 and there are others here. Some doctors would call us 'gluten sensitive or intolerant' rather than celiac but the 'script', the gluten free diet, is the same for both.

beebs Enthusiast
beebs
Posted
  • Author

My mother never had her genes tested. It just didn't enter the Drs and GIs mind that it could be celiac, she deteriorated for years before the gave her and colonoscopy and endoscopy and went looking for bowel cancer and came up with Celiac. My children haven't been tested either - I have a feeling that their paed GI doens't hold much weight maybe with the genes testing? He never even mentioned it.

I have never tried gluten free, but my eldest son has just gone gluten free and my 17 month old is about to have his endo on the 20th jan and I think we are all going gluten free after than, It is just waaayyyy to much hassle to have gluten and non gluten free foods around, especially with little kids.

The way they go on about those two Genes over here (Australia) even the Coeliac society says if you don't have those two genes then you can rule out Celiac!!!

Thanks for the quick reply!!

Jestgar Rising Star
Jestgar
Posted

I have a feeling that their paed GI doens't hold much weight maybe with the genes testing? He never even mentioned it.

There are only genes associated with celiac disease. None that have been shown to cause it. Your GI is smart to disregard them. Go with how the diet makes you feel.

eatmeat4good Enthusiast
eatmeat4good
Posted

I'm worried about you. How far into your pregnancy are you? Are you gluten free? The way you described your body rejecting gluten foods makes me worry that you should be gluten free immediately and you likely have Celiac. If it is even suspected I think you should err on the side of caution and go gluten free. Miscarriages are more common in untreated Celiacs.

beebs Enthusiast
beebs
Posted
  • Author

I'm worried about you. How far into your pregnancy are you? Are you gluten free? The way you described your body rejecting gluten foods makes me worry that you should be gluten free immediately and you likely have Celiac. If it is even suspected I think you should err on the side of caution and go gluten free. Miscarriages are more common in untreated Celiacs.

No I haven't ever been gluten free. I was supposed to have an endo and I didn't want a false neg if that was the case. Although that agonising pain I get doesn't seem to be a celiac thing - well not that I can find on the internet anyways:). I have shocking joint pain though (my rheumy thinks its connective tissue related). It has come on really suddenly since my last pregnancy which I had a c/section for and the weight loss started then as well. I walk like I am 90...I'm 33.

eeepppp. I am scared now! Although I am almost 20 weeks now. I had a big bleed early in pregnancy and I had one last pregnancy as well. I wonder if that could have something to do with it.

ravenwoodglass Mentor
ravenwoodglass
Posted

No I haven't ever been gluten free. I was supposed to have an endo and I didn't want a false neg if that was the case. Although that agonising pain I get doesn't seem to be a celiac thing - well not that I can find on the internet anyways:). I have shocking joint pain though (my rheumy thinks its connective tissue related). It has come on really suddenly since my last pregnancy which I had a c/section for and the weight loss started then as well. I walk like I am 90...I'm 33.

eeepppp. I am scared now! Although I am almost 20 weeks now. I had a big bleed early in pregnancy and I had one last pregnancy as well. I wonder if that could have something to do with it.

That pain could be gluten related. It is not unusual to have 'gut wrenching' pain or pain that is mostly in the stomach. I find name brand Pepto Bismal liquid to help a great deal but ask your doctor if it is okay for you to take before you try it.

The last thing I expected was that my horrible, difiguring, joint problems would go into remission on the diet. I have a connective tissue disorder and it was thought that that contributed to my developing arthritis. It took a couple months but my arthritis has been in total remission now for over 8 years. One of the celiac associated genes is thought to also be associated with RA, which is what they thought I might have, and it is also is the gene I carry. It is also common for celiac to have a trigger which for many women is childbirth. That last C section may be what triggered your increase in symptoms. For your well being and that of your unborn child you may want to consider just going gluten free for now. If it relieves your issues you have your answer and the diet will not harm your unborn child. If you really feel the need for diagnosis you could always do a challenge for 3 months after you have the baby.

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eatmeat4good Enthusiast
eatmeat4good
Posted

I didn't mean to scare you. I had that kind of pain where you walk like you are 90. It all went away when I went gluten free. Joint pain, muscle pain, bone pain and a whole lot of other stuff. I hope you will either pursue more testing or just go gluten free. I recognized your symptoms in myself and I miscarried once after the third trimester. I now attribute that to Celiac/gluten..but at the time I did not know. If you go gluten free you should have some relief of your symptoms in a short time. I think since you are pregnant you should read the forums on pregnancy here and see if others had your symptoms or if they can advise you on how to proceed. Maybe your Dr. will test your blood with Celiac Panel. But then again there is a 30% false negative rate I have read. Just ditch the gluten. I will hope you will let us know how you are doing.

beebs Enthusiast
beebs
Posted
  • Author

Aiiieeee.

Okay -that is it. I am going gluten free right now. It is not worth the risks, and if its not that its not like I have anything to lose! And my 4 year old is doing it - so I am making him gluten free stuff anyway. We are awaiting the results for his endo and I have a younger son who is 17 months who is having an endo in 3 weeks time.

I had no idea that you could miscarry so late from gluten stuff. I assumed because I had made it past the first trimester than it was safe. I am so sorry to hear of your loss :(

And the whole thing about the connective tissue stuff - my rheumy is scratching her head - I don't fit neatly in to any box and with all my bloods negative she had no idea what is going on. I get weird things like episcleritis, mouth and nose ulcers, degenerative joint pain and stiffness, stomach ulcers for no reason (no h.pylori). I have sicca, I scored 0 0 in my schimers tests - which means I have no protective tears at all even when things get in my eyes. Plus the weight loss, and I get middle ear inefections alot - about twice a year - have had lots of burst eardrums etc. Plus the swallowing issues etc.

The agonising pain I feel (I've only had 3 times) but it has me curled in a ball on the floor for hours. It is so bad and feels "Colicky" if that makes sense? And is up there with labour - not as bad of course, but if labour is a 10 on the pain scale then this is about an 8. Its so bad I can't talk. But as I said I only have had it 3 times in a year (thankgoodness!) My GI thought it might be Intussusception but he really just wants to do and endo to find what is going on, cause he has no idea either. He is the one who eventually diagnosed my mother with Celiac, but because my genes are not the two main ones they have all ruled it out as a possibility for me,

I have no interest in an actual diagnosis - I just want to make sure I am treating the right thing iykwim. And it isn't something weird like intussusception mixed wtih connective tissue disorder.

Thanks for your help guys - because I honestly wouldn't have gone gluten free had I not read your posts - but I think I should now just to see if it makes any difference at all. So thanks!!! I really appreciate it.

eatmeat4good Enthusiast
eatmeat4good
Posted

I am so pleased to read your post. I have been worried about you all day. I wish I had known and I am relieved you decided to try gluten free. I think you will be surprised at all the symptoms related to gluten. I am no expert just a 7 year victim of this strange disease, but all of the symptoms you describe definitely sound Celiac. My son gets the gut wrenching double over kind of pain. I get DH sores. I used to get them inmy nose and mouth. The ulcers in your nose and mouth could be DH. That is another way to test for Celiac. They can biopsy outside the lesions and if antibodies are present it is an accepted diagnosis for Celiac. Many Dr.s don't know about it. A biopsy of a lesion would be less intrusive than an endo. If you can talk to your Doc about this option if you have any sores now. All of your symptoms come and go and some stay a long time. That is all consistent with Celiac. I'm thrilled with your decision to go gluten free and I am glad I shared my story with you. People always say, "If I can help just one person not have to go through what I went through, it will all be worth it." I think you are my ONE person. Thank you for that. I will be hoping for a speedy recovery and fast response for you in your new gluten free life. I cannot believe your Dr. didn't tell you about the risk to your pregnancy if you have Celiac. But nothing surprises me anymore. So glad you took matters into your own hands...that is what good moms do. And you are a good mom. :)

beebs Enthusiast
beebs
Posted
  • Author

I am so pleased to read your post. I have been worried about you all day. I wish I had known and I am relieved you decided to try gluten free. I think you will be surprised at all the symptoms related to gluten. I am no expert just a 7 year victim of this strange disease, but all of the symptoms you describe definitely sound Celiac. My son gets the gut wrenching double over kind of pain. I get DH sores. I used to get them inmy nose and mouth. The ulcers in your nose and mouth could be DH. That is another way to test for Celiac. They can biopsy outside the lesions and if antibodies are present it is an accepted diagnosis for Celiac. Many Dr.s don't know about it. A biopsy of a lesion would be less intrusive than an endo. If you can talk to your Doc about this option if you have any sores now. All of your symptoms come and go and some stay a long time. That is all consistent with Celiac. I'm thrilled with your decision to go gluten free and I am glad I shared my story with you. People always say, "If I can help just one person not have to go through what I went through, it will all be worth it." I think you are my ONE person. Thank you for that. I will be hoping for a speedy recovery and fast response for you in your new gluten free life. I cannot believe your Dr. didn't tell you about the risk to your pregnancy if you have Celiac. But nothing surprises me anymore. So glad you took matters into your own hands...that is what good moms do. And you are a good mom. :)

Thanks so much for your post:) And thanks for your help!

I've had one day gluten free - its harder than it looks - trying to keep gluten in my 17 month old but not contaminate the non gluten food.

When you got DH in your nose did it itch though? The ulcers I get are just really painful. I don't have it all the time, but I get or two every month or so.

With your sons pain in the tummy - does it feel like someone is squeezing his intestines? Thats the feeling I have. So unpleasant.

eatmeat4good Enthusiast
eatmeat4good
Posted

The sores in my nose never ever itched. Just painful. I had one on my leg that I could have described as itchy AND painful 10 years ago. It lasted one year and didn't respond to antibiotics or antifungals. For the last 7 years the lesions have been on my forehead and chin and they never itched...just hurt hurt hurt so bad I would tell the Dr. that these sores are burning my brain. It was the best way I could describe it. They hurt like bad burns...even the ones in the mouth and nose. And they take forever to heal.

Congratulations on being one day gluten free!! Wow! You have a 17 month old. You might consider giving him/her gluten free crackers since those kisses are going to be glutened and the hands too. It won't harm the toddler and it might help to make the whole family or at least you and the kids gluten free. But you are doing just great for now.

My son says the stomach pain is the worst pain he ever felt in his life and he literally doubles over for an hour or two after accidental ingestion or cross contamination. He says my guts hurt so I don't know if he feels it in the intestines or the stomach. My guess is both....sounds like spasms of rejection to me. But your guts can't go anywhere to get away from the abuse so they just complain as loudly as they can. That is my analogy anyway.

Hey! Wonderful timing on your gluten free decision. Happy New Year!

beebs Enthusiast
beebs
Posted
  • Author

Congratulations on being one day gluten free!! Wow! You have a 17 month old. You might consider giving him/her gluten free crackers since those kisses are going to be glutened and the hands too. It won't harm the toddler and it might help to make the whole family or at least you and the kids gluten free. But you are doing just great for now.

My son says the stomach pain is the worst pain he ever felt in his life and he literally doubles over for an hour or two after accidental ingestion or cross contamination. He says my guts hurt so I don't know if he feels it in the intestines or the stomach. My guess is both....sounds like spasms of rejection to me. But your guts can't go anywhere to get away from the abuse so they just complain as loudly as they can. That is my analogy anyway.

Hey! Wonderful timing on your gluten free decision. Happy New Year!

17 month old twins actually :) The problem is one of them has been unwell since I can remember really - his endo is booked for the 20th of jan and I really really don't want him coming up negative if he is Celiac so I am trying to get him to eat as much gluten as he can...which isn't much to be honest - he won't eat bread, cookies or granola bars anymore - I am seeing a pattern big time! He has very "classic" symptoms.

My DH and I have decided the house will be completely gluten free after his endo - so only 3 more weeks!

Your sons pain sounds just like mine....oh my god I can't believe I was so quick to trust those genes tests...

I completely forgot it was new years day - talk about a resolution!

beebs Enthusiast
beebs
Posted
  • Author

Oh and the nose ulcers - soooo painful and take ages to clear up... I always thought DH was itchy and like a rash...could it ever just affect your nose?

eatmeat4good Enthusiast
eatmeat4good
Posted

Yes DH can be be just one lesion that lasts a long long time...intensely painful and/or itchy. Everyone is different. I always only had one lesion at a time...leg, back of neck, nose, elbow, each lasted months....the leg one lasted one year. Then the rash blew up on my face....for 7 years...between one and 5 lesions at a time, but very sore burny,oozy, and nothing changed until gluten free 3 months ago.

I think as the antibodies build up your body makes more lesions, but not always. I am only speaking from my experience, but it all started with just one long lasting sore.

Oh you have twins! How cool and fun is that? I hope your little one gets better soon, and I am happy for you that you husband is supportive of you and this process. I understand why the gluten is around for testing...and I hope the time goes fast.

The most significant thing is the joint and muscle pain you have (connective tissue disorder) it might all add up for you as you go along gluten free. I am hoping for you.

Oh, and I used to have sharp pains in the stomach but randomly and seldom like a few times a year but when it happened I would just feel like there was knife in my stomach.

Keep reading and if you can't kill it or pick it off a tree don't eat it! I read that here recently and think of it every time I shop. :) Hang in there. How many little's do you have?

beebs Enthusiast
beebs
Posted
  • Author

Yes DH can be be just one lesion that lasts a long long time...intensely painful and/or itchy. Everyone is different. I always only had one lesion at a time...leg, back of neck, nose, elbow, each lasted months....the leg one lasted one year. Then the rash blew up on my face....for 7 years...between one and 5 lesions at a time, but very sore burny,oozy, and nothing changed until gluten free 3 months ago.

I think as the antibodies build up your body makes more lesions, but not always. I am only speaking from my experience, but it all started with just one long lasting sore.

Oh you have twins! How cool and fun is that? I hope your little one gets better soon, and I am happy for you that you husband is supportive of you and this process. I understand why the gluten is around for testing...and I hope the time goes fast.

The most significant thing is the joint and muscle pain you have (connective tissue disorder) it might all add up for you as you go along gluten free. I am hoping for you.

Oh, and I used to have sharp pains in the stomach but randomly and seldom like a few times a year but when it happened I would just feel like there was knife in my stomach.

Keep reading and if you can't kill it or pick it off a tree don't eat it! I read that here recently and think of it every time I shop. :) Hang in there. How many little's do you have?

Thats a good way to think of food, killing or picking off a tree. :)

It's soon to be 4 boys for me:)

MacieMay Explorer
MacieMay
Posted

Yes DH can be be just one lesion that lasts a long long time...intensely painful and/or itchy. Everyone is different. I always only had one lesion at a time...leg, back of neck, nose, elbow, each lasted months....the leg one lasted one year. Then the rash blew up on my face....for 7 years...between one and 5 lesions at a time, but very sore burny,oozy, and nothing changed until gluten free 3 months ago.

I think as the antibodies build up your body makes more lesions, but not always. I am only speaking from my experience, but it all started with just one long lasting sore.

Oh you have twins! How cool and fun is that? I hope your little one gets better soon, and I am happy for you that you husband is supportive of you and this process. I understand why the gluten is around for testing...and I hope the time goes fast.

The most significant thing is the joint and muscle pain you have (connective tissue disorder) it might all add up for you as you go along gluten free. I am hoping for you.

Oh, and I used to have sharp pains in the stomach but randomly and seldom like a few times a year but when it happened I would just feel like there was knife in my stomach.

Keep reading and if you can't kill it or pick it off a tree don't eat it! I read that here recently and think of it every time I shop. :) Hang in there. How many little's do you have?

Hi there, I was wondering if you've ever had your lesions biopsied? If so, what were the results? Thanks!

eatmeat4good Enthusiast
eatmeat4good
Posted

No biopsy.

I asked 4 different dermatologists to biopsy.

They refused.

Each thought they knew the answer.

Herpetic Whitlow

Adult Acne

Neurotic Excotiation

Chronic Hives

Also given Sun Sensitivity and Herpes as diagnoses.

Treated with multiple antibiotics, antifungals, and steroids to no avail for 7 years.

I didn't know what to ask them to look for in a biopsy as I didn't know about DH.

So no, I have never had the sores biopsied.

However after 3 months gluten free they are 90% healed with no pain and no new outbreaks.

Sorry I can't be of more help. My information was from my experience. Not by medical Dr.'s unfortunately.

anabananakins Explorer
anabananakins
Posted

Hi! I tested negative for the genes too - I'm in Australia - and so that was considered to rule out celiac. But I went gluten free anyway and feel a million times better. You don't have to have them for gluten to make you feel pretty awful. And since there is so much they don't know, I'm not risking damage while they work it out.

So glad you went gluten free and hope you feel heaps better.

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      @Pasballard, Keep in mind those gluten free processed snacks are not required to have vitamins and minerals added to them to replace vitamins lost in processing like gluten containing products.   We need the eight essential B vitamins to turn those carbs into energy to fuel our bodies and make enzymes that sustain life.  Sudden weight gain (or weight loss) can be symptomatic of Thiamine Vitamin B1 deficiency.  Thiamine is the B vitamin with the shortest storage time, and so  thiamine deficiency shows up first with vague symptoms like weight gain or loss, fatigue, not sleeping well, achy or cramping muscles, digestive issues and headaches.   Taking vitamin and mineral supplements helps boost your body's ability to absorb these nutrients which keeps our bodies healthy.  B Complex vitamins and Vitamin D (which regulates inflammation) are usually low in people with Celiac disease.  Talk to your doctor and nutritionist about supplementing.
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