Yet Another Doctor's Opinion

[Jestgar]

These are the two genes that PREVAILING science/medical researchers believe are the "main celiac" genes.

Just to clarify this statement, there are no "celiac genes". There are genes that are associated with celiac disease. It's not the same thing. Any doctor that tells you that you can't have celiac disease because you don't have the genes needs some re-education.

[researchmomma]

In the 3 years I searched for an answer to my rapidly declining health and excruciating pain, I saw dozens of doctors, specialists in 3 different states/(dentists even--for the jaw, skull and facial pain I also developed)/allergists/NDs & various alternative care types who said something like this: (with condescension and skepticism)

"In my ___ years of practice, I have never seen a patient with these symptoms. You just need to relax and take this.... (starts opening script pad up)

To me, this was an implication that it was either all in my head or I was making it up! How do you "make up" a 90 lb. weight loss, hair loss, and complete loss of muscle mass, ataxia, or the 3 dozen+ other symptoms? )

I would answer with: "Well, I am your FIRST then." And I would leave the office in tears because I knew I would get no help from that person.

Thankfully, the new GI doctor I found--thanks to another member on c.com --said "OMG! I have never seen celiac manifest in a patient the way it has in you. " (He said this while choking up because he felt terrible for how long it took for me to have my DX confirmed) This was accomplished simply by going back to my PC doctor after 3 years of hell and TELLING him--"Look, this is what I have!" He finally realized what had been staring him in the face for 3 years. This is a man, BTW, who has children with Celiac! He says (with regret) he did not know how it presented in adults. Really??!! This is the same man who DXed me with B-12 deficiency, folate deficiency and watched me drop all that weight but thought it "was good for me" ( as I was so darn fat, I guess???)

My DX is based on my slow recovery from the waking dead through gluten-free dietary compliance and double DQ2 genes--as my blood panel was NEG and the Idiot GI I had before him failed to biopsy when he did the endoscopy. (we still do not know why and the doctor won't answer my letters or calls)

This new GI doc refuses to have me go back on gluten for that--which is good because there is no way in hell I am putting that poison in me so I can lose brain function again. He called what happened to me "a disgrace." He does want to biopsy me at some point to be sure the villi are healing. I said that would be okay--but only because I trust him.

He also thinks celiac is the most underdiagnosed health epidemic we are facing. He also used the "tip of the iceberg" phrase. He loves when I bring him articles to read--he is not threatened or offended by it ---and he makes copies for his patients. He has asked me to speak to celiac support groups with him so others can see these symptoms are "not all in their heads". He said my story affected him deeply and that my whole health history should have been a giant neon sign saying "CELIAC". He says I saved my own life and my recovery will take a long time--but it will happen (well, we are not sure about the neurological burning pain, but we remain positive ). He also says doctors need to look at the whole patient, figure out the cause of the problem, not just symptom-treat. I love this guy!!

He's a real "keeper".

These are the doctors we NEED! Ones with brains. Ones who read a CURRENT medical journal every once and awhile. Ones who LISTEN to the patient and look at the WHOLE health history.

Just my 2 pennies.

Wow, your story just stuns me. I guess it shouldn't. Every Celiac I meet (or gluten intolerant as well, they have some horrific stories too) has a story. Rarely is it as simple as, I was diagnosed after one month. I know they are out there but they are the lucky ones.

Two of my friends almost lost their babies. I spoke to one of those friends last night and we again are amazed at the stupidity and ignorance of the doctors. This friend whose baby almost died figured it out herself but had to wait 3 months to get her baby into a GI. Unreal.

So IH: maybe I should just fly my daughter out to see your GI!

[researchmomma]

Just to clarify this statement, there are no "celiac genes". There are genes that are associated with celiac disease. It's not the same thing. Any doctor that tells you that you can't have celiac disease because you don't have the genes needs some re-education.

Now that is interesting! And most GIs do not believe this. If you know one, please let me know because I will fly my daughter there for a consult. I run clinical trials and I plan to offer a wager to my GI at our next appt that there will be new data to show that all those biopsied confirmed celiacs without the genes ARE Celiacs even though so many GIs have come back and said "well you aren't Celiac because you don't have the genes". That is why docs tell us they aren't out there, because they turn them away.

What upsets me more is to be told you can't have Celiac but they push out the door with a script a PPI. They don't even discuss Non-Celiac Gluten Intolerance or Gluten Sensitivity. That kills me!

[IrishHeart]

Just to clarify this statement, there are no "celiac genes". There are genes that are associated with celiac disease. It's not the same thing. Any doctor that tells you that you can't have celiac disease because you don't have the genes needs some re-education.

You are so right, J. Thanks for clarifying further. From all the medical articles and books I have read, these are the genes they "believe" are associated with it.

Some state unequivocally, however, that in the absence of those two genes, you do not have celiac. This is obviously outdated thinking.

And my GI says there are people who do not have either of these genes but still have celiac because he found flattened villi upon biopsy. He's one of the smart ones!

[IrishHeart]

"The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on "negative celiac genetic testing". To definitively declare you have negative celiac genetic tests requires that the laboratory test for and report the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits."

more here:

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

[nora-n]

If neuro issues are involved, like seizures, then most likely DQ1 is involved.

DQ1 is DQ5 and DQ6.

There have been some officially diagnoses DQ6 here.

Neuro issues and gluten, and gluten ataxia:

just google hadjivassiliou and you should find a numbers of articles, with mention of DQ1.

probably googling gluten ataxia would bring a lot of info too.

Open Original Shared Link is one of them

here should be more about DQ1 adn neuro issues from gluten

Open Original Shared Link

Open Original Shared Linktheneurologicalmanifestationsofgluten

[researchmomma]

If neuro issues are involved, like seizures, then most likely DQ1 is involved.

DQ1 is DQ5 and DQ6.

There have been some officially diagnoses DQ6 here.

Neuro issues and gluten, and gluten ataxia:

just google hadjivassiliou and you should find a numbers of articles, with mention of DQ1.

probably googling gluten ataxia would bring a lot of info too.

Open Original Shared Link is one of them

here should be more about DQ1 adn neuro issues from gluten

Open Original Shared Link

Open Original Shared Linktheneurologicalmanifestationsofgluten

I find the genetics so interesting. I am a research geek though so that is no surpise.

Nora your siggy is interesting. So you had DH and you are double DQ5 not the classic DQ2 or 8. So very interesting. I am so curious to see what my DDs HLA DQ sequencing is. I will need help interpreting I bet. Since she has seizures I wonder if she will be a DQ1. I would love to show that to her neurologist. He is an open kind of guy and seems to be up on the latest info because his son has Epilepsy. We will see.

Recently she has a numb pinky, completely numb.

Thanks for the info.

[IrishHeart]

Recently she has a numb pinky, completely numb.

Not good. That does not happen without a reason.

I had parasthesia throughout my entire body from gluten-induced neuropathy. I had ataxia, burning nerve pain and various other neuro issues. But the total numbness was last to show up. My foot went completely numb once when I was sitting and when I stood up and tried to walk, my ankle buckled right under me and I heard Crack, crack, crack....I almost passed out from the sound and the pain that shot through me. Fortunately, it was "only" a severe sprain--ligaments and all--and it was bruised and created a half dozen pretty rainbow colors and was swollen from toe to mid- calf for 2 months. I am still rehabbing it and hope the damage is not permanent.

I hope you are writing down ALL of J's symptoms --even if they seem unrelated---for the next doctor visit.

[researchmomma]

Not good. That does not happen without a reason.

I had parasthesia throughout my entire body from gluten-induced neuropathy. I had ataxia, burning nerve pain and various other neuro issues. But the total numbness was last to show up. My foot went completely numb once when I was sitting and when I stood up and tried to walk, my ankle buckled right under me and I heard Crack, crack, crack....I almost passed out from the sound and the pain that shot through me. Fortunately, it was "only" a severe sprain--ligaments and all--and it was bruised and created a half dozen pretty rainbow colors and was swollen from toe to mid- calf for 2 months. I am still rehabbing it and hope the damage is not permanent.

I hope you are writing down ALL of J's symptoms --even if they seem unrelated---for the next doctor visit.

I am amazed you are still alive. Seriously.

We have an agreement that she will tell me stuff that is happening to her even if unrelated. So she told me about her pinky again. It has been numb for about a month and I told her that I doubt that was related and we laughed. I just read about gluten ataxia and I am once again floored. When will I not be amazed by the damage gluten causes?

As you know, J is back on gluten because she really wants that biopsy although I think her neuro symptom is more taxed than her gastro system so I really doubt they will find anything. Anyway, she had bad gastro complaints the first day back on gluten but now she hasn't said anything about it. Either she isn't telling me or it isn't bothering her. I thought hubs was going to back down on his suspicion that is IS gluten but he is more focused on her mood and family dynamic. While off gluten she played outside and got along better with her brother now she is snarky, inside and fighting with all of us. She is fine with her friends though.

I am rambling again but I was starting to doubt myself because of the lack of gastro issues but duh, I need to look at my entire child and she just AIN'T right.

We are waiting for the enterolab kit. My friend who has child with celiac said she gets to ticked off at the money undxd Celiacs and NCGI have to spend to get diagnosed and be validated by the medical community. Then they stick to you with the more expensive food too. She is furious about it. It is ridiculous!

[researchmomma]

Not good. That does not happen without a reason.

I had parasthesia throughout my entire body from gluten-induced neuropathy. I had ataxia, burning nerve pain and various other neuro issues. But the total numbness was last to show up. My foot went completely numb once when I was sitting and when I stood up and tried to walk, my ankle buckled right under me and I heard Crack, crack, crack....I almost passed out from the sound and the pain that shot through me. Fortunately, it was "only" a severe sprain--ligaments and all--and it was bruised and created a half dozen pretty rainbow colors and was swollen from toe to mid- calf for 2 months. I am still rehabbing it and hope the damage is not permanent.

I hope you are writing down ALL of J's symptoms --even if they seem unrelated---for the next doctor visit.

Oh and yes, I have list on my computer and I just added it.

[researchmomma]

next I am going to have to focus on my son. He has been hypotonic since birth. Didn't walk until age 2 (didn't stand either) and he is still floppy and uncoordinated. My husband isn't going to buy this one so easily and my son will not want to go gluten free either. Maybe if I explained that it would help him run like his friends but I can't promise that because who knows if it will reverse with GFD.

Sorry for rambling.

[IrishHeart]

next I am going to have to focus on my son. He has been hypotonic since birth. Didn't walk until age 2 (didn't stand either) and he is still floppy and uncoordinated. My husband isn't going to buy this one so easily and my son will not want to go gluten free either. Maybe if I explained that it would help him run like his friends but I can't promise that because who knows if it will reverse with GFD.

Sorry for rambling.

I never, ever think you are rambling,honey.

um, Hypotonia, you say.....??

https://www.celiac.com/articles/800/1/Wide-Range-of-Neurological-Disorders-Associated-with-Celiac-Disease/Page1.html

[IrishHeart]

I am amazed you are still alive. Seriously.

Me too. Seriously.

We celebrated with champagne and I danced with wild abandon in my living room last night !!

I told you--at one point, I could not even walk without pain or shortness of breath or without listing to the right or left or banging off a wall.

I spent the last 3 NY Eves in agony, gluten delirium, burning with pain, just a freakin nightmare.

I am one of several on here who are like the phoenix who rises from the ashes.

Ravenwoodglass, Eatmeat4good, Gemini...so many more...

Warrior Princesses, each and every one.

[researchmomma]

Me too. Seriously.

We celebrated with champagne and I danced with wild abandon in my living room last night !!

I told you--at one point, I could not even walk without pain or shortness of breath or without listing to the right or left or banging off a wall.

I spent the last 3 NY Eves in agony, gluten delirium, burning with pain, just a freakin nightmare.

I am one of several on here who are like the phoenix who rises from the ashes.

Ravenwoodglass, Eatmeat4good, Gemini...so many more...

Warrior Princesses, each and every one.

Absolutely amazing. I can't wait to get back to eating gluten free. I am excited about it.

Glad you are all on the road to recovery!

Happy New Year and so glad you celebrated the new year and your new life!

[researchmomma]

I never, ever think you are rambling,honey.

um, Hypotonia, you say.....??

https://www.celiac.com/articles/800/1/Wide-Range-of-Neurological-Disorders-Associated-with-Celiac-Disease/Page1.html

Dr. Zelnik concludes that the therapeutic benefit of the gluten-free diet was demonstrated only in patients with transient infantile hypotonia and migraine headache.

That is what my son has! OMG this is going to be hard to convince my hubs but I may need to try! I think I will get his blood work ordered first. And mine this week.

[ravenwoodglass]

next I am going to have to focus on my son. He has been hypotonic since birth. Didn't walk until age 2 (didn't stand either) and he is still floppy and uncoordinated. My husband isn't going to buy this one so easily and my son will not want to go gluten free either. Maybe if I explained that it would help him run like his friends but I can't promise that because who knows if it will reverse with GFD.

Sorry for rambling.

I hope you can convince your husband to test him and then go gluten free for a while to see if it helps no matter the results. I would have given anything to be able to run as a child. Heck I'd give anything to be able to run now. If the diet can give your DS the chance of being able to run and play it is worth a shot. Can't say for sure it will help but it sure won't hurt.

[researchmomma]

I hope you can convince your husband to test him and then go gluten free for a while to see if it helps no matter the results. I would have given anything to be able to run as a child. Heck I'd give anything to be able to run now. If the diet can give your DS the chance of being able to run and play it is worth a shot. Can't say for sure it will help but it sure won't hurt.

Your picture is too cute!

I talked to hubs a little bit about it. If my daughter comes back with some of the genes that show sensitivity for gluten I think he will be more than willing. He agreed that we should have the initial testing done.

I don't think my daughter had any of the AGA testing. That would have been helpful. She also didn't have the IgE or IgG testing.

But we are going to do the enterolab testing so hopefully we will get something from that test.

thanks!

[ravenwoodglass]

Your picture is too cute!

I talked to hubs a little bit about it. If my daughter comes back with some of the genes that show sensitivity for gluten I think he will be more than willing. He agreed that we should have the initial testing done.

I don't think my daughter had any of the AGA testing. That would have been helpful. She also didn't have the IgE or IgG testing.

But we are going to do the enterolab testing so hopefully we will get something from that test.

thanks!

If you can afford it maybe test the whole family. When I tested with them you didn't have to get all the tests. You could choose one or two. Maybe get your DD's full testing done and do just the gluten tests for the other little one might be an option.

I do hope you are able to get some answers and that everyone is doing better soon.

[researchmomma]

If you can afford it maybe test the whole family. When I tested with them you didn't have to get all the tests. You could choose one or two. Maybe get your DD's full testing done and do just the gluten tests for the other little one might be an option.

I do hope you are able to get some answers and that everyone is doing better soon.

Thank you. There have been many of you that have been so helpful. I think I would be certifiably insane without the help, support and advice.

Good idea on the testing. It will be interesting to see how J turns out on Enterolab. She will probably be double DQ4 with my luck!

[nora-n]

here is an abstract about DQ9 and celiac:

Open Original Shared Link

just to show DQ2 and 8 are not the only gluten sensitive genes

[researchmomma]

here is an abstract about DQ9 and celiac:

Open Original Shared Link

just to show DQ2 and 8 are not the only gluten sensitive genes

That is interesting and is from the year 2000. You would think they would be a bit more open minded, eh?

Nora on another thread you mentioned if someone had low IgA that the testing from Enterolab for sensitivity wouldn't be useful since it is based on IgA. This makes sound sense. However, I have a question regarding food intake and total IgA levels.

My daughters blood work was pulled by the hospital while she was being seen in the ER for suspected appendicitis. She was so sick and had not eaten for over a week or if she did eat, it was a few bites.

Because her IgA was low (not insufficient) they ran the tTg test which was normal.

My question is could her low food intake effect both of these tests? She was eating mostly fruit. And if yes, since her diet is much better now, could the IgA levels be better and make the enterolabs worth doing?

Thanks in advance. Please post if you have an opinion on this. These tests are expensive and maybe I should just do the gene sequencing.

[nora-n]

Did they run the ttg IgA or the ttg IgG?

About the total IgA, which I guess you are asking about, I really do not know if that goes up and down, or up and down dependent on food intake.

But a lowish total IgA (low but still within range) can skew the ttg IgA test, or any kind of IgA based test since those tests are dependent on IgA.

Usually they only take the low total IgA into consideration regarding IgA based tests if the total IgA is well below range.

But it can still skew the results even still within range.

[researchmomma]

Did they run the ttg IgA or the ttg IgG?

About the total IgA, which I guess you are asking about, I really do not know if that goes up and down, or up and down dependent on food intake.

But a lowish total IgA (low but still within range) can skew the ttg IgA test, or any kind of IgA based test since those tests are dependent on IgA.

Usually they only take the low total IgA into consideration regarding IgA based tests if the total IgA is well below range.

But it can still skew the results even still within range.

Thanks Nora.

They ran a ttg IgG because the IgA total was well below normal. The doc said that since the ttg IgG was normal she didn't have Celiac.

They did a gene test, she doesn't carrry either DQ2 or 8.

I am doing the enterolab regardless at this point. However, my daughter is really stuck on getting the endoscopy since the endocrinologist mentioned it. I think it will come back pretty and pink and i just want her off gluten. It has a very negative effect on her, Celiac or not. I told her if don't hear from the doctors by tomorrow about a scope, we are going gluten free and staying that way. She is just miserable. I am selling this as a 6 month trial to her but I have a feeling she will not come off until she leaves the house. Then it is up to her.