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Ottonegirl

Could My Dd Still Have Celiac? (sorry Long)

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Hi everyone,

I am pretty certain that I am going to order the Enterolab genetic celiac panel for my dd. But, I'd love feedback on whether you think it would be a waste of time or not.

Here's her story:

4 years ago she presented with anemia (at age 11) - her lowest HgB was 8.2. She didn't present with iron deficiency for 3 months so she was tested for hematological disorders all of which came back negative. 3 months later, her MCV dropped low & her iron #s were checked and she was now iron deficient. She was put on high doses of iron & transferred to a GI doc. She had 2 meckels scans, upper & lower endoscopies, capsule endoscopy (which showed some mucosal thickening) & a CT scan with contrast. All biopsies came back negative. She was kept on iron for a full year. At the year, she was pulled off & she was watched. For 9 months she remained stable & then was released. Fast forward 9 more months (April 2008 & she's 14 yo now). She was rushed by ambulance in shock to Children's. Her HgB was 5.9. She was hospitalized for 12 days. Once again, she does not present with iron deficiency (normal MCV & iron studies) although her ferritin is less than 5. GI docs think she has a hematology disorder & the hematologists think it's GI. After days of testing & arguing, they decide to scope her again. An NG tube is inserted & coffee ground blood comes out during the clean out. The hematologists cancel her bone marrow biopsy because of the blood, but GI docs don't necessarily believe that it's caused by what's going on with her - could have been an NG tube injury. Once again, upper & lower endoscopies come up negative. She is scheduled for exploratory surgery & her entire small intestine is removed & examined manually (2x). They find nothing. During the hospital stay the anemia was treated with a blood transfusion, 7 IV iron infusions & 5 epo shots. She left the hospital with a ferritin in the 200s & a HgB of 10. 2 Weeks after her release from the hospital, she has a capsule endoscopy. The GI doc (not hers) who did it saw several ulcerations in her stomach that when touched would bleed profusely. He cauterized them but didn't biopsy because he didn't want to compromise the capsule (huh?). He assumed she had h. Pylori, but all tests came back negative. The capsule showed a bloody region in her lower small intestine. She was then transferred to Stanford for a 2nd opinion. The GI docs there do not believe that she has a GI issue - the blood in their opinion was a NG tube injury. She had a small bowel MRI w/contrast which showed no scarring in her small intestine, a small bowel follow-through, 2 upper endoscopies, 1 capsule endoscopy & 1 lower endoscopy. She also had a Crohn's panel done which came back negative. While there she sort of had a bone marrow biopsy but they weren't able to get any of the spongy tissue so the results do not include genetic tests. It was negative. Stanford ended up saying it could be GI but they're not sure.

So, dd's original GI doc's theory is that dd has a small intestine AVM, which causes chronic bleeding (draining her ferritin constantly) & massively bleeds occasionally. I think this is very likely. Dd lives on iron & is always tired. She sees her GI doc every 6 months, has bloodwork done every 3 months, but is on a standing order in case we think she's dropping a lot. The big concern for her isn't the chronic issue, but the potential for another major bleed, which is likely over time.

So, even though dd's had 5 negative celiac biopsies, I've stilled wondered about celiac. Do you think that there's any chance that she could have it after the GI work ups that she's had. I don't mind doing the cheek swab - it's fast & easy.

Would love any feedback.

Thanks!

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I remember a girl with low ferritin and hospital stays and blood transfusions etc. here (in the other food intolerance folder, in the omg thread) and I searched pubmed.com and found some abstracts that might fit, they found some irritated tissue too.

Anyway, it turned out she has lyme and co-infections and a blood disorder because of that, where the body dissolves the red blood cells.

(by the way, some say that one should be gluten-free if one has lyme disease. With Lyme, there might be a condition called pseudo-celiac, with slightly positive blood tests but negative biopsies, but typical celiac symtpoms, and it gets better off gluten just like ordinary celiac)

Yes, I do think it might be wise to get the Enterolab tests, maybe the fecal tissue transglutaminase antibody test too, if she is not IgA deficient.

Note that there are several people here with negative gene tests but who respond very well to a gluten-free diet. there are even diagnosed celiacs here with the wrong genes. So the antibody tests would be wise in my opinion.

nora

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Hi everyone,

I am pretty certain that I am going to order the Enterolab genetic celiac panel for my dd. But, I'd love feedback on whether you think it would be a waste of time or not.

Here's her story:

[snip]

So, even though dd's had 5 negative celiac biopsies, I've stilled wondered about celiac. Do you think that there's any chance that she could have it after the GI work ups that she's had. I don't mind doing the cheek swab - it's fast & easy.

Would love any feedback.

Thanks!

whew. you (all) have been through a lot.

not sure what your expectation of the 'genetic' test is?? also, are you paying for it out of pocket??

the genetic panel cannot diagnose celiac; and, as noted in the previous post, sometimes folks that lack the 'risky' MHC genes -- actually have celiac (or, at least, some form of gluten intolerance).

btw -- all of your symptoms in the post are NOT primary symptoms of celiac disease. they certainly could be secondary symptoms -- but, in the absence of primary symptomology and all the previous negative testing for celiac, i'd be a bit skeptical.

otoh -- going gluten free doesn't require additional tests or hospitalization and is cheap and easy.

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yes, going gluten-free is cheap and easy, but it is not so simple to make a child go gluten-free....there are friends, family, school, etc and they ask for a diagnosis or some proof on paper as to why the child has to be on a strict gluten-free diet.

Many parents want some kind of proof for that reason, and for the child's sake (difficult age...)

so getting the ordinary blood tests for celiac, or the gene test and stool tests before going gluten-free might be wise.

If all the tests are negative, one still can try gluten-free. There are many examples here that people got better despite of negative tests.

My second daughter had all negative test and a negative biopsy, yet she got an official diagnosis. But she went back on gluten for the tests by free will. (it is hard to get a diagnosis this way, as gut damage that is severe enough for a diagnosis may take months, she was back on gluten for six or eight weeks, don't remember. one should get the testing done while still on gluten. the child in question here is still on gluten but had negative endoscopies)

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Thanks so much for the responses! I really appreciate it.

I remember a girl with low ferritin and hospital stays and blood transfusions etc. here (in the other food intolerance folder, in the omg thread) and I searched pubmed.com and found some abstracts that might fit, they found some irritated tissue too.

Anyway, it turned out she has lyme and co-infections and a blood disorder because of that, where the body dissolves the red blood cells.

Lyme may be one of the few things my dd hasn't been tested for. We do know, though, that her red blood cells do not destruct & live the expected time frame. I searched the thread you were talking about (but there were 13,000 replies) & never found the person with lyme - could have missed it.

Yes, I do think it might be wise to get the Enterolab tests, maybe the fecal tissue transglutaminase antibody test too, if she is not IgA deficient.

Note that there are several people here with negative gene tests but who respond very well to a gluten-free diet. there are even diagnosed celiacs here with the wrong genes. So the antibody tests would be wise in my opinion.

I don't believe she's IgA deficient - all I know is that she cannot be tested using skin tests for allergies because she has dermagraphia in addition to chronic hives. Since we would be paying out of pocket I was trying to go cheap - but, I know she's never had the antibody tests done since she'd had the biopsies.

not sure what your expectation of the 'genetic' test is?? also, are you paying for it out of pocket??

They were recommended by friend - to see if she'd even have a propensity in the celiac direction. Plus, we thought that if they came up positive that she'd be way more apt to be willing to try the diet.

btw -- all of your symptoms in the post are NOT primary symptoms of celiac disease. they certainly could be secondary symptoms -- but, in the absence of primary symptomology and all the previous negative testing for celiac, i'd be a bit skeptical.

This has been my thought - the only symptoms that she has that point to celiac are that she tends to be VERY gassy & she's pretty skinny for her height & has been for years - but, she doesn't look undernourished at all.

but it is not so simple to make a child go gluten-free....there are friends, family, school, etc and they ask for a diagnosis or some proof on paper as to why the child has to be on a strict gluten-free diet.

This is the issue for us - we do not want to put her through anything else without her buying into it 100%! She's heard Drs repeatedly tell her that there's still a chance it could be crohn's but there's no chance it could be celiac. I'm sure it could benefit her to be gluten free - it does me, but I have lots of food allergies which she doesn't have - yes, she's had a very thorough allergy work up too.

Hmmm.... so, without paying for the entire panel it probably wouldn't be worth the testing. Then, because she's not really symptomatic it might not be worth even doing the testing... I'll have to give this some thought. I think that I would love to find the source of the issues & fix it! I don't want to put her through anything else though unless it's warranted - she desperately wants to just be a normal kid.

Thanks again!

Karen

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