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


BlessedMommy

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BlessedMommy Rising Star

but our doctor really doesn't know a lot in this area and I really don't think that he will be very helpful. After I had my gluten induced TIA, he told me to stay away from gluten, but that "a little bit probably won't bother you."  :wacko:

 

I would like to work towards pursuing a DX for my 7 year old daughter because there's not a chance in the world that she will stick to a gluten free diet without a formal DX. She will pretty much go find gluten and eat it and really doesn't care about the rash that develops as a result. I bought gluten free granola bars for us and regular granola bars for my husband and youngest daughter as a treat. I figured that it was pre-packaged, so if they kept it and ate it outside or took it on a trip it shouldn't contaminate my gluten-free house.

 

So after eating 3 of the gluten free bars, she went outside and snuck into the van and found her dad's bars and ate one as well. Her face is already rashy and raw from the last couple of cheats that she's done. She consistently gets the same symptom from being glutened and I know that it's not placebo effect, because there were some times when I didn't expect it and then it flared up and I realized that she had either snuck some behind my back or gotten some accidently at a restaurant. (i.e. when Taco Bell subbed out a wheat tostada for the corn)

 

Is it possible to go to some sort of specialist without a referral from your primary care doctor? Or should we find a lab that can order us a celiac panel first without having to try to convince our doctor first?

 

If we do a gluten challenge, how can I make it safe for her? In my gluten challenge, I overdid it and wound up with severe headaches, but then again I went cold turkey to eating the same type of meals as my husband. Is it fairly safe to feed a kid say, 1 PBJ sandwich on whole wheat bread per day when gluten challenging?

 

 

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kareng Grand Master

My insurance allows us to go to whatever type of doctor we need. Not sure what yours allows.

Is this doc teachable? My main doc lets me show her stuff from places like the Univ of

Chicago and then she will go with it.

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tri-gal Rookie

Hi Ruth,

I can relate to your situation, with a almost 6 yr old daughter showing signs and being non-Dx myself, unfortunately.

I was afraid of the brush off from my daughter's doc, but to my delight, I succeeded in getting a requisition (she does not see my doc).

n your shoes, I would go to doc and push for requisition.

Here is what we did:

For my daughter, once my suspicions reached a new level, I broached the subject with her dentist. The dentist said her enamel issues could be systemic, but they were not diagnositic. Yes, proceed to discussing with doc.  So, I made a list of points, including "dentist said" and asked for a requisition. I put the whole story on the table, and doc agreed to issue requ.  I also wanted B12 check, but she did not give that saying, it is rare for a problem (I have had this and my daughter gets similar signs). 

Gluten challenge: My daughter's doc, to her credit, looked up some info and came back and said, now recommending 8 to 12 week gluten challenge (as my daughter had been gluten light for 10 months). Two bread slices, we were told.

Meanwhile, my husband and I had decided to pursue lab testing for her. Partly, because we wanted to be sure we wouldn't get a "false negative" blood test and have the door permanently shut.

We went to EnteroLab and now have results for her which all are v. positive, including the auto-immune tTG test.

I find the stool tests have given me the info to know that we're likely ready for serological testing, without risking false negative.

It is a bit expensive but that was where we landed given my non-Dx and the challenges of Dx generally. 

best wishes and good luck.

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BlessedMommy Rising Star

It also occurred to me...there is a very celiac knowledgeable doctor not very far away from this. This doctor will sometimes diagnose celiac without the normal tests, in certain situations of extreme symptoms, etc. (probably genetic testing too, I'm guessing)

 

I wonder if I should go to this doctor and see if I can get a celiac diagnosis from her and then present to my doctor that hey, celiac is genetic, I need my kids tested. Or I could get gene tested as well to see if I'm carrying the gene.

 

This is so complicated! Knowing what I know now, I would NEVER have taken my kids off gluten without proper testing, but my primary care doctor advised dietary trials when they were having skin issues. I unfortunately asked for allergy testing, not celiac testing, because I didn't know any better. Eeek!

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tri-gal Rookie

Do you think your doc will deny your daughter the test if you go now?

If so, your suggestion is a good one. Or, if you want to fork out the money, you could try the fecal tests and gene tests.

I think the gene testing is worth it, particularly if you struggle with the frustration of lack of diagnosis, as I do. On the other hand, as it is not diagnostic, it has its limitations and in the end, does not really help if the doc does not want to listen.

This is what happened for us: I went through similar thought processes, so I actually pursued gene testing. The results were that my daughter and I both have DQ 3, 3 (subtypes 7,9), as reported via mouth swab test. These are not on the conventional lists of "main celiac" genes, but again this phrase is misleading. It turns out that "main" simply means "most common",  and research suggests DQ 9 (DQ 3, sub 9) may indeed be a celiac predisposing gene, as well as DQ7.

However, I now realize that I can't really present this to the docs and say "see"? because they might not know about the research and they will fall back on the most frequently cited headline, which is DQ 2 or DQ8. So, you could try that route, but in the end, it depends on the open-mindedness of the doc to consider the case.

I find it silly that it is so hard to screen a child with symptoms who has a parent with a history.

Be sure your daughter is getting that gluten and then insist on a requisition. I am keeping my fingers crossed for you.

 We've found it hard here and I am really eager to get this over with as a 2 to 3 month trial  drags.

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StephanieL Enthusiast

 if you want to fork out the money, you could try the fecal tests and gene tests.

 

Neither of those tests are going to be use for a dx so I wouldn't waste my time or money on them.

 

As for a referral, that is going to depend 100% on your insurance. Some you need to get the OK from your primary Dr. Some you can go to whoever you want in whatever specialty you need.

 

I'm confused, is she or is she not gluten free? I saw she was sneaking things but they were gluten-free then you said you won't have taken them off gluten.  

 

If you have a DX, I would take that to the Dr. and get the kid the genetic test. Based on those two plus resolution of symptoms, some Dr's will give a DX but it'll depend on the Dr.

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BlessedMommy Rising Star

They are not gluten free in the sense of being 100% free from contamination or sneaking things on the side and also they eat things that should be gluten-free but  that haven't been verified as gluten-free. So they are probably closer to "gluten light."

 

But even being 95% gluten free isn't going to work for blood testing, since you have to eat gluten consistently in order to avoid false negatives. I'm just frustrated and wish that I would have never even attempted to take them off gluten. It's so easy to be strict about what I put in my own mouth, but kids really need a real DX.

 

I don't have an actual DX, but I treat my condition like celiac. (see sig below for history)

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IrishHeart Veteran

The results were that my daughter and I both have DQ 3, 3 (subtypes 7,9), as reported via mouth swab test. These are not on the conventional lists of "main celiac" genes, but again this phrase is misleading. It turns out that "main" simply means "most common",  and research suggests DQ 9 (DQ 3, sub 9) may indeed be a celiac predisposing gene, as well as DQ7.

However, I now realize that I can't really present this to the docs and say "see"? because they might not know about the research and they will fall back on the most frequently cited headline, which is DQ 2 or DQ8. 

 

But, it's not a headline, it's not misleading and it's not "just most common"  it's what the research says. .

 

This is what the leading celiac researchers say: HLA DQ2 and HLA DQ8 are the genes associated with celiac disease.

 

Read any valid source and this is what you will find. 

 

Open Original Shared Link

 

My guess is you did the cheek swab test from Enterolab, based on your description. Enterolabs uses the phrase "gluten sensitivity genes" when reporting the 'subtypes" like that, but Enterolabs has never published their research or been peer-reviewed. There is no evidence that those other genes are associated with celiac.

 

One study --was published as far as I know showing the possibility of the DQ9 variant.

 

Except in extremely rare cases, celiacs have the DQ2 or DQ8 gene.. 

 

"Each case of celiac disease has been found to show these so-called “haplotypes”; therefore, a negative gene test indicates that celiac disease cannot develop in that individual.
 There are two main reasons for using the genetic test when evaluating an individual for celiac disease. The first case is to “rule out” celiac disease, which is a medical term that indicates an individual does not possess a necessary risk factor for the development of celiac disease, 
genetic predisposition. Without this factor, it is impossible that the individual with a negative gene test will develop celiac disease in the future"
 
 
My GI doctor said he biopsied a man with villous atrophy, but neither gene. As is turns out, several other medical conditions may cause villous atrophy, so he eventually ruled out celiac which was wise as the man was avoiding gluten for no good reason. His condition was treated and he is fine. 
 
Can you have celiac disease without having the genes for it?

This topic raises much debate. The current thought shared by the many physicians and scientists is that 1-2% of celiacs may not possess the celiac-specific genes HLA-DQ2 and/or DQ8. Our Dr. Guandalini and Dr. Bob Anderson, chief scientific officer of ImmusanT, believe the genes are necessary to initiate the immunologic response of celiac disease, hence you cannot have celiac disease without them.

Dr. Anderson retrospectively reviewed hundreds of celiac patients, 2% who did not have the genes, and with each he was able to conclude that the celiac diagnosis was actually wrong: some had Crohn’s disease, some Giardia infection, and some had immune deficiencies.

 

source: Open Original Shared Link

 
Have we heard of someone with a different gene having celiac?
 
yes, a member on here has reported she has celiac and does not have either gene.
According to Dr. Fasano's research and so many other celiac specialists, she is extremely rare.  
 
also, 

 

"If I have a gene for celiac disease, does that I mean I have it?

Genetics don’t diagnose celiac disease. They do, however, clarify whether an individual is “at-risk” for it. If this is the case, you should closely monitor your symptoms and submit to blood tests every 2-3 years or immediately upon the sight of symptoms. When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to 1/3 of the U.S. population has the genes for celiac disease. Meaning, those who have the DQ2 or DQ8 gene can develop celiac disease at any time, but only about 5% of those people actually will."

--same source as above--U of Chicago, a leading celiac research center.

 
And I agree with Stephanie, fecal tests and gene tests are not diagnostic tools for celiac. 
 
Hope this helps! best wishes.
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BlessedMommy Rising Star

I agree that gene tests are not diagnostic, but it sounds like they might be a "rule out" tool?

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BlessedMommy Rising Star

Looks like according to University of Chicago, celiac can't develop without the D2 or D8 genes. So it does sound like they could be used as a rule out tool.

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IrishHeart Veteran

Looks like according to University of Chicago, celiac can't develop without the D2 or D8 genes. So it does sound like they could be used as a rule out tool.

 

 

in many cases, that's exactly  why they are used. 

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BlessedMommy Rising Star

So, IrishHeart, did you go the blood test and endoscopy route or did you pair your symptoms with your double D2 genes and then try the gluten-free diet? (Just wondering, based on your sig?)

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IrishHeart Veteran

I just explained my odyssey towards obtaining a DX on another thread. I'll see if i can find it. I post often, so it may take me a second or two. lol

 

I figured out it was celiac making me so ill for 3+ years and brought it back to my PCP doctor & former GI doctor, yes but I did not " diagnose myself", if that's what you're asking.

 

And the gene test was done well after the fact by blood test that my new, celiac-savvy GI doc ordered. . 

 

I was not diagnosed in the "conventional way" at all. Some people have blood work, the biopsy and they know right away. ( If I had been, it would have spared me and my family a whole lot of grief. )

 

This is why I try so hard to point people in the right direction and get them tested right away, if possible. 

 

https://www.celiac.com/forums/topic/107347-severity-of-symptoms-linked-to-genetic-profile/

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tri-gal Rookie

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.

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BlessedMommy Rising Star

I'm probably going to have a conversation with my doctor about reintroducing gluten or doing gene tests. *sighs* Really not looking forward to this one....my doctor is a real minimalist, which is good in some senses, but I strongly doubt that he will want to order celiac testing, especially with kids who are basically healthy, other than eczema. (my daughter also has vitiligo and had some tooth issues on her front teeth)

 

I think that I will possibly mention to him the fact that when people have gluten issues, celiac needs to be *at least* ruled out.

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kareng Grand Master

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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IrishHeart Veteran

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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BlessedMommy Rising Star

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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IrishHeart Veteran

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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kareng Grand Master

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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BlessedMommy Rising Star

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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BlessedMommy Rising Star

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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tri-gal Rookie

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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kareng Grand Master

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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BlessedMommy Rising Star

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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