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View Full Version : What should I do next...to further test or not?



wendibird22
04-19-2012, 04:15 PM
Many of you probably recall a long list of my posts about trying to figure out the cause of a whole host of symptoms (nausea, headaches, canker sores, dizzy/buzzed, bloating and distention w/ epigastric pain, crushing fatigue, heartburn (but not reflux), cystic acne, tingling in fingers on rt hand) since Nov 2010. I started pursuing causes in June 2011. I've had many many blood tests, exams, and diagnostics (CT scans and barium swallows, xrays, ultrasounds of my pelvic region). All my blood tests (including those for celiac) and other diagnostics have been completely normal. After several trial elimination diets I went gluten-free for a prolonged period in Nov 2011. I did a 5 day gluten challenge in Feb and a 7 day challenge just a few weeks ago. Though my symptoms didn't go away completely during the 4 mos prior to the challenge they did see some improvement and clear regression with the gluten challenge. I'm fairly certain gluten is the cause of my issues and happy to remain gluten-free.

That brings me to my question. I have a follow up with my primary care physician tomorrow. In the almost 1 year of guessing my issue I've done just about everything but be referred to a GI.

Given my symptoms, response to a gluten free diet, and neg celiac test should I:

1. ask for a GI referral and likely go back on gluten for an endoscopy (since there's a 20-30% false negative rate on the blood tests)? This would really confirm or eliminate celiac. I could still be non-celiac gluten intolerant.

2. ask for genetic testing? I have 2 daughters, both very tiny, both with sometimes bloated bellies, one with chronic constipation and canker sores (though not frequently). Gene testing could be a piece of the puzzle for me and for them. I did ask her about this previously but she dismissed it since my other blood work was negative. While having or not having the common celiac genes doesn't indicate you have or haven't the disorder, finding out I have them, along with my symptoms and improvement on diet would likely indicate celiac and the possibility of my kids having it/developing it to. Conversely, not having the genes helps to rule it out (paired with neg blood test) and lessens the likelihood that my daughters have an issue with gluten.

or

3. thank my pcp for her work (or lack there of), call myself non-celiac gluten intolerant, and go about my merry way?


I honestly can't decide what my next best course of action is. I'm leaning towards #2 since it doesn't require my ingestion of gluten for 3 long months and could help give some possible answers for my daughters w/out having to subject a 2yo and 4yo to unnecessary blood tests if I don't carry known common genes. But given that I already asked my pcp about it and she wrote me off, I'm not sure that I'd get anywhere with a 2nd request (short of lying and saying that the pediatrician asked me to have it done, and even then she could still say no).

I've asked this same question over on the celiac boards but I can already anticipate they will all say #3 because many of them think the medical system is inept at diagnosing celiac and that if you feel better w/out gluten then your answer is simply to avoid it...no diagnosis needed. But I'm curious what all the wise moms on the BBB think.

scrooks
04-19-2012, 06:19 PM
I would go with #2. DN has celiac and my SIL had the whole family genetically tested. They determined that ex BIL also had Celiac.

I dont know a ton about Celiacs but I know 2 FAMILIES that have it so from my experience is definitely passed down from parent to kid and genetic info could be helpful for your DC and their future offspring.

I dont think #1 is worth it. Based on the experiences of DN... Her endoscopy showed a couple of potential spots that could indicate celiac but it wasnt conclusive and she definitely has Celiacs.

wendibird22
04-19-2012, 08:17 PM
Thanks for the opinion. You reminded me that the endo while the gold standard isn't always accurate either. It depends on the # of samples taken and from where. You could have damage and the endo misses it. So yeah not worth it to do months of gluten.


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todzwife
04-20-2012, 03:13 PM
We paid out of pocket for stool testing through enterolab for Maddie when she was just over 2. I couldn't subject a 2 year old to an intestinal biopsy.

Her results came back very positive. We also paid an additional fee for the fecal fat testing, which was severe (and explained why she wasn't growing). It was a totally non-invasive test (gross, but not invasive) and we got the answers we needed. That she is severely gluten intolerant. We could have paid another fee for the gene panel as well to see if she carries the celiac gene, but we didn't. I will be testing myself here soon.

You do NOT have to be on gluten for this test, which is another reason we did it instead of the blood/biopsy. I couldn't put her back on gluten for 3 months and watch her regress.

She is now a petite 6 year old, but in the range of "normal", which she never was before.

I don't know if this is an option for you, but it would give you some answers. I don't know if any insurance covers it. We just paid OOP.

pinkmomagain
04-21-2012, 02:28 PM
Don't know what to say, Wendibird, but I always follow your posts about this because of similar issues.

One of my dds was/is small, had bad longterm constipation issues, cankersores, etc....and she never ended up testing positive for celiac -- however ultimately was dx with Ulcerative Colitis and tested positive for lactose intolerance (not severe, though).

It's been a year for me with no gluten and it's definitely helped me greatly. Before I went GF I tested negative for celiac. More recently, I've found that I do still react to certain fruit and vegetables badly and came upon fructose malabsorption http://en.wikipedia.org/wiki/Fructose_malabsorption. You'll notice that wheat is one of the foods that is high in fructans.

I guess if I were you, I'd press harder for the genetic blood test...she may want to take your bloodwork anyway and it's just another test to add to the list and it might satisfy some curiousity for you.

wendibird22
04-21-2012, 08:10 PM
Thanks! I didnt push the issue this appt. I follow up w her in 8wk. In the meantime she's testing aldosterone, parathyroid, cpk, sed rate, ferritin, and my chem/metabolic panel because I still have achiness my legs. If any of these are off I'm going to demand the genetic test since there is such a correlation w celiac and issues w calcium, adrenals, and inflammation. I should know the results next week.

The one good thing was that she changed my "label" from IBS to non-celiac gluten sensitive.


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wellyes
04-21-2012, 09:17 PM
My husband's journey is similar to yours. It is incredibly frustrating, and we honestly don't expect a clear answer in the next 10 years.

His next step is trying the FODMAP diet. I don't know much about it, but here is a quick summary: http://www.cassandraforsythe.com/blog/Complete+FODMAP+List+For+a+Happy+Gut A more comprehensive resource is http://www.ibsfree.net/

Oh, just saw your update about not being IBS. Well, that simplifies things, right?