Intro And Questions About Testing Options

[worriedmama]

I am trying to get to the bottom of my 10 year old daughter's ongoing stomach problems. We are trying her on a gluten free diet and every search that I do to get information on specific products or information keeps coming back here so obviously this is the best place to get advice!

History: Family: I have been dx with IBS and lactose intol. Dad has acid reflux. Paternal Gma also has IBS.

As an infant she was horribly constipated. Switched her to low iron formula (against peds advice ) and no more constipation and no iron problems either.

She has had intermittent diarrhea (occasionally constipation)for the last few years with increasing frequency. Self diagnosed her with lactose intolerance a few years ago and using Lactaid has helped some. In the last 6 months it has become more constant. Numerous trips to the Ped over the last few years have resulted in guesses of "abdominal migraine" and "IBS". Missed 7-8 days of school last year, all due to stomach problems. She has had allergy testing for environmental allergies and all were negative. No food allergy testing.

I independently set up an appointment with the head of Peds GI at our Children's Hospital the end of last year. Was very unhappy with the visit. With only listening to symptoms said that it didn't sound like anything to worry about, no big deal and gave some meds for the stomach cramping. I had to insist on having at least some blood work done. They did blood and urine test and a few weeks later I got an email saying all was normal. I asked for a copy of the results.

Platelet Count and Mono% were high so I emailed back and asked why and was just told no big deal.

IgA was 52.2 mg/dl

Tss Transg IgA <3 units/ml

Diarrhea and cramping have been more and more frequent all summer and have been affecting her quality of life-- had to skip several activities and was sick most of our family vacation a week ago. Finally she had diarrhea so bad the first day of school she had to stay home. She is not an anxious/nervous child and was very excited about her first day and very disappointed to have to stay home, so I don't think it was "nerves".

I got her an appt with the ped for that morning and went in demanding answers. I was nice but very assertive. Said that I am tired of being told it is no big deal and I am tired of having to see her so miserable and I want to know what is going on. Well, still got told "IBS" because the blood work ruled out everything else, including celiac. Dr suggested we keep a food diary for a few weeks, and then start eliminating things from her diet and record all of that. Well, she was late to school the next day because of the diarrhea, and so miserable I decided I wasn't going to wait a few weeks to start elimination. We tried dairy free last fall and it didn't seem to make any difference. So I decided to start with gluten free. I know that it is possible to have a false neg test.

I have spent the last 3 days glued to my computer researching everything I can find and my head is swimming. Celiac, gluten intolerance, wheat allergy/intolerance. And a whole range of tests I have read about here that I am struggling to understand.

So I guess in short:

Symptoms--used to be intermittent but becoming more frequent: Diarrhea, stomach cramping, occasional stomach burning, occasional nausea but vomiting is rare, headache, rarely constipation, black circles under eyes. She cant always distinguish how she is feeling and just says her stomach hurts. Behavior and attitude are all very positive and no other symptoms.

Does this sound like it could be gluten related?

Are there other tests that would be more accurate that I should try to have done (other than a biopsy)? Can someone list and explain all the different test options and explain in plain English? I keep seeing all these different abbreviations and I am so confused.

Any help and advice would be appreciated. I just want my baby to feel better!

ETA: Forgot to say that she does get occasional nasal allergy symptoms but allergy testing was negative, and she and I also get extremely motion sick.

[Looking for answers]

Good for you, Mom, for fighting for answers. Sorry you aren't getting them. Your post hit close to home, as I spent my childhood, beginning at your daughter's age with the same symptoms. Back then (20 years ago) doctors were even more clueless so all that my mom could do is pat my stomach as it swelled to double its size every night after eating. Ah, the memories!

My suggestion is to try eliminate gluten nd see how she does. I think her response to the diet is more important than blood test results. (Although I'm sure others on here can guide you a bit better around testing).

If eliminating gluten doesn't help, perhaps you could work with a nutrionalist to do a total elimination diet so you can figure out if there are other triggers as well.

I admire you for standing up for your daughter and not taking the "IBS" diagnosis like so many other parents might. If my issue would have been dicovered at her age I could have had a more normal young adult life, instead of living on D medication and running to the bathroom every time I ate. I also probably wouldn't have lost my appendix, had a bout of severe mono that nearly killed me or spent my college years in long johns, even during summer because of my thyroid problems

[Skylark]

For starters, you need to keep her on gluten to continue testing. NONE of the tests work gluten-free. It's important to find out about celiac for kids because of school accommodations. She definitely sounds celiac, especially with the lactose intolerance. Lactose is made at the tips of the villi and damage can cause intolerance.

The celiac tests are an antibody panel and the biopsy. Antibody tests are for:

anti-gliadin - reaction to gluten and not very specific

anti-TTG - autoimmune, not very specific for celiac, but strongly suggestive and followed up w/biopsy

anti-EMA - autoimmune and very specific for celiac

anti-DGP - tests for reactions to gliadin the celiac gut has processed - very specific for celiac

The tests come in both IgA versions for normal people and IgG versions for IgA deficient people. They can be false negative.

Platelet Count and Mono% were high so I emailed back and asked why and was just told no big deal.

IgA was 52.2 mg/dl

Tss Transg IgA <3 units/ml

For her rusults, what was the reference range on the total IgA? That seems quite low. If she is at the bottom of the IgA range you need to push for the IgG versions of the celiac panel if they weren't done already. Also, you need to push hard for a biopsy, both for celiac and to be sure there are no other problems.

[worriedmama]

For starters, you need to keep her on gluten to continue testing. NONE of the tests work gluten-free. It's important to find out about celiac for kids because of school accommodations. She definitely sounds celiac, especially with the lactose intolerance. Lactose is made at the tips of the villi and damage can cause intolerance.

The celiac tests are an antibody panel and the biopsy. Antibody tests are for:

anti-gliadin - reaction to gluten and not very specific

anti-TTG - autoimmune, not very specific for celiac, but strongly suggestive and followed up w/biopsy

anti-EMA - autoimmune and very specific for celiac

anti-DGP - tests for reactions to gliadin the celiac gut has processed - very specific for celiac

The tests come in both IgA versions for normal people and IgG versions for IgA deficient people. They can be false negative.

For her rusults, what was the reference range on the total IgA? That seems quite low. If she is at the bottom of the IgA range you need to push for the IgG versions of the celiac panel if they weren't done already. Also, you need to push hard for a biopsy, both for celiac and to be sure there are no other problems.

The reference range is 33-258, so that would put her at the low end of the range.

From my reading here, I see that she has to be on gluten for more testing but at this point I don't think I will be able to convince her dr to do any further testing unless we try gluten-free for a month or so, and then put her back on gluten and see if she gets worse again. Then I can go in and say "SEE! This did make a difference!" Then I will have the basis and the education from here to push for more testing and to know exactly what to push for. They have said unequivocally that they will not do a biopsy unless something shows up in the blood work. I have a strong suspicion that they are going to just say that it is still IBS and the gluten-free diet made her feel better because it is easier on the gut to digest so it gave it a chance to rest and recover (because that is pretty much what they already said)

Given her young age I think it is important to know if it is Celiac or not. If it were me, at my age, I would just say oh well, I will eat gluten-free and not worry about all the testing for myself if the dr wasn't cooperative. But with all I have been reading here on the long term effects of leaving it untreated I think it is too risky to let it go. She is not happy about this diet change and I think it will be important now and in the future for her to know it is a confirmed lifelong condition.

Of course we could also be barking up the wrong tree, but something in MY gut tells me that this is the direction to go now. Fortunately we have good insurance and there are a whole lot of doctors in this area. I am willing to just keep trying new ones until we get some answers.

Off to put together a gluten-free meatloaf for the family. This diet may end up helping more than just my daughter!

[cassP]

yes- i think you should print out what skylark posted AND also ask for the Igg tests on the Ttg, and antigliadin

her Iga 55 or 52?? is LOW... this looks like the Total Iga Serum test. BUT- she's a child and i dont know the child ranges... for an adult- the range is 70-400. mine was a 57, and my Gi said that was "Iga Deficient"

- which means if she is Iga Deficient-> all her Iga antibody tests will be inconclusive.

Iga deficiency points to a weaker immune system, and it is common in celiacs.

just take these tests in, and ask for them all! docs dont always run all the tests- and they can miss something. my GI didnt even run the Endomysial Antibodies!! my PCP did. and that test is only specific to Celiac.

anyways, im rambling. dont give up- a mother's instinct usually trumps most doctors... i know this, i watch Mystery Diagnosis

[SGWhiskers]

If you contine to get resistance from her Dr., take her to a specialist. Also, I prefer to work with my doctors and have never actually said this, but I keep in my the back of my mind the phrase "will you make a note in my chart that I requested these specific tests/referral and that you refused." I really think that being as educated, organized, and specific as possible will get your daughter the testing. You are doing the right thing looking for a diagnosis beyond IBS. As far as the abdominal migraine, it might be a valid diagnosis, but what is causing it? Gluten causes my brain's migraines and nausea. Why not her abdominal migraine?

If your doctor insists that she stop gluten, then do a challenge, remind him/her that some people (like me) take months to see a change and that a home's pots, pans, and cookware need to be replaced. Remind him/her that the school will need to be educated in order to be successful with keeping her gluten free. You are prepared to do all of those things after good testing, but that it will be difficult to keep a little one who can't express what her body is feeling very well completely gluten free and that you would hate to rely on a "trial" period for a diagnosis unless it were the only option.

Also, get the blood tests for at least the big 8 allergens when she has the rest of the testing done. I wish I would have had a lot more blood testing done in retrospect.

I'm so glad you are taking her complaints seriously. I had neuro problems from the time I can remember, and everyone thought I was just a whiner.

[SGWhiskers]

I found this from the Mayo clinic. It appears to be for physicians or doctors to use to help decide which tests should be ordered. You will need to download the PDF.

Open Original Shared Link

[worriedmama]

Thank you! I have printed that out to keep in my growing pile of reference material. Not sure that I understand a word that it says though!

I keep seeing people talk about doing DNA testing? What does that involve and what is the purpose?

I am also wondering if these blood tests would be inaccurate if she is possibly in the early stages of this getting bad so not much damage has been done yet?

My head is still just swimming. I probably need to stop researching the issue, and just focus on the dietary changes. I am actually finding the information on celiac to be very intriguing and have definitely found some things to make me think. I am also thinking that I am going to check with my dr to see if I have been tested.

We are very fortunate that the school is very supportive and I have no problems with them. In fact there is a girl in her class that is already gluten-free and another one with a dairy allergy, along with others in her grade with peanut/nut allergies. So they are very careful about what is going on and I don't need a dx to have them involved. Since she was dx with lactose intolerance 3 years ago I have had several calls each year from her teacher or the nurse to check on things when they were unsure if she needed the meds or not-- they always call if they are in doubt. I have talked with her teacher and the nurse and they are on board with whatever I want from them with any dietary changes they try. The school nurse has seen her at her worst and knows how bad her problems are.

We are on day four and she is already feeling some better. No diarrhea since Wednesday, cramping less often and with less severity. Is it because of the gluten-free? Don't know, but if it keeps her from crying in pain on the couch then it is worth it!

[cassP]

i understand... it took me a good few months to really understand all the testing, and the dna, etc...

i got 2 celiac blood panels few years ago- and never really understood them... and since most of my results were inconclusive & i didnt get the endoscopy- i still ate gluten on occasion... thinking i was just "gluten sensitive"

the dna- or Genetic tests can be taken by a doc or ordered online through a few places. i did mine thru Enterolab. people say they're controversial and non-diagnostic... but i liked that they tested for more than just 2 Celiac genes (which is what your doc would test- just 2)

anyways- they may or may not help- but it is interesting to know what our genetic makeup is

[Skylark]

We are on day four and she is already feeling some better. No diarrhea since Wednesday, cramping less often and with less severity. Is it because of the gluten-free? Don't know, but if it keeps her from crying in pain on the couch then it is worth it!

How exciting! I'm so glad to hear she's feeling better.

Her total IgA is on the low side, so the test you had may not be very accurate. I agree that she should probably see a specialist. It's going to be hard to put her back on gluten for more tests though if it makes this big a difference. I'm glad to hear her school is supportive of kids without the formal diagnosis.

[ravenwoodglass]

I keep seeing people talk about doing DNA testing? What does that involve and what is the purpose?

I am also wondering if these blood tests would be inaccurate if she is possibly in the early stages of this getting bad so not much damage has been done yet?

My head is still just swimming. I probably need to stop researching the issue, and just focus on the dietary changes. I am actually finding the information on celiac to be very intriguing and have definitely found some things to make me think. I am also thinking that I am going to check with my dr to see if I have been tested.

Children do have a higher rate of false negatives on blood testing. As others stated if she is low in IgA that will cause a false negative but even some folks with a good IgA level will sometimes show false negatives.

As far as the DNA testing goes most doctors only test for two of the nine celiac associated genes. There has been research recently that there may be as many as 27 associated with this disease. Genetic panels are not diagnostic but can be part of the whole picture. Enterolab does test for 9 of the genes rather than just the two and I would choose them if you really want the gene testing done. Enterolab does not diagnose celiac but they can also tell you if she is making antibodies to gluten.

If you are symptomatic then yes you certainly should get screened. Some countries screen children routinely and celiac is one of the first things looked for when someone becomes symptomatic, rather than the last like here.

Do keep in mind that if she is going to have further testing with the doctor she is going to have to stay on gluten. Since your doctor has stated he wants her gluten free for a month and then to challenge I would ask him if he is going to diagnose based on her recovery and reaction. After being gluten free she may have her symptoms return even more severely and if he is going to insist she challenge for a couple months to do a biopsy IMHO that would be cruel.

[Skylark]

Also, don't waste money on the genetic tests. If your insurance covers them it's interesting information, but that's about all. You would find out if she has a high risk for celiac, but not whether she is or isn't celiac. The so-called "celiac genes" do not automatically make a person celiac, and as Raven can tell you, you can be celiac without the "celiac genes". The most damaging thing about the genetic tests right now is that if your daughter doesn't have a "celiac gene" she can be written off by doctors.

[ravenwoodglass]

The most damaging thing about the genetic tests right now is that if your daughter doesn't have a "celiac gene" she can be written off by doctors.

And that is exactly what happened with my daughter. Even after having postive blood and biopsy by a GI in her teen years she got gene tested when she went to college and the doctor convinced her that she wasn't and never could be celiac. Now that she is back on gluten all her symptoms are attributed to 'stress'.

That was the reason I got my genes tested 5 years after I was diagnosed.

[cassP]

And that is exactly what happened with my daughter. Even after having postive blood and biopsy by a GI in her teen years she got gene tested when she went to college and the doctor convinced her that she wasn't and never could be celiac. Now that she is back on gluten all her symptoms are attributed to 'stress'.

That was the reason I got my genes tested 5 years after I was diagnosed.

OMG! she had a + blood test and a + biopsy- and because she didnt have DQ2 or DQ8- the doc dismissed it all???????

Lord have mercy....

craziness... insanity...

how come we know more than so many of these docs??

wow

[Skylark]

I sure hope she's back off gluten now!

[ravenwoodglass]

I sure hope she's back off gluten now!

I wish I could say she is but no.

[worriedmama]

YIKES! That is crazy. Thanks for telling me! We will definitely skip the DNA thing. Sometimes I really wonder about doctors. I am finding it very interesting that it seems that Food companies are more aware of Celiac/Gluten Free needs than the medical community! Even a few obscure things that I have looked up online say whether it is gluten-free or not.

We have another dr appointment tomorrow. I was getting my allergy shots yesterday and mentioned her problems to the nurse/staff. They said that the Dr. should see her so we are going in. She saw her for general allergies (nasal symptoms) last spring but I don't think that I mentioned all the stomach issues. I really like this dr and she seems to really stay on top of current research and has a lot of in depth knowledge, always answers all my questions, and offers all options so I am being very optimistic. Obviously if she does want to order any tests for Celiac (can/would an allergist do that?)we will have to drop the gluten-free and go back to gluten earlier than I had planned.

Her symptoms are still kind of up and down. Not the can't get out of the bathroom type of diarrhea, but still the cramping, must go NOW stuff, headache, and the tummy upset waking her up. But I wasn't expecting a quick miracle! Going to make a full list of symptoms so I don't forget anything when we go in.

[ravenwoodglass]

YIKES! That is crazy. Thanks for telling me! We will definitely skip the DNA thing. Sometimes I really wonder about doctors. I am finding it very interesting that it seems that Food companies are more aware of Celiac/Gluten Free needs than the medical community! Even a few obscure things that I have looked up online say whether it is gluten-free or not.

We have another dr appointment tomorrow. I was getting my allergy shots yesterday and mentioned her problems to the nurse/staff. They said that the Dr. should see her so we are going in. She saw her for general allergies (nasal symptoms) last spring but I don't think that I mentioned all the stomach issues. I really like this dr and she seems to really stay on top of current research and has a lot of in depth knowledge, always answers all my questions, and offers all options so I am being very optimistic. Obviously if she does want to order any tests for Celiac (can/would an allergist do that?)we will have to drop the gluten-free and go back to gluten earlier than I had planned.

Her symptoms are still kind of up and down. Not the can't get out of the bathroom type of diarrhea, but still the cramping, must go NOW stuff, headache, and the tummy upset waking her up. But I wasn't expecting a quick miracle! Going to make a full list of symptoms so I don't forget anything when we go in.

If your allergist will help with food intolerances the doctor could be quite helpful I show up negative in blood work and my allergist literally saved my life. Not all will deal with them though.

Another thing we discovered was that although I tested highly allergic to 98 out of 99 things I was tested for after a few months gluten free those other allergies resolved. My allergist explained that my immune system was in overdrive hence all the other reactions.

The waking up with a sick stomach is a hallmark of celiac. IBS doesn't wake someone up out of a sound sleep. So don't let them tell you she simply has IBS.

[worriedmama]

The waking up with a sick stomach is a hallmark of celiac. IBS doesn't wake someone up out of a sound sleep. So don't let them tell you she simply has IBS.

Really??? I hadn't seen anything about that and was actually worried that since she is mostly the sickest in the mornings that wouldn't mean it is food related. And of course the drs just say that means she is just trying to get out of going to school (already been told that several times ). But I know my child and I know that she loves school and hates staying home and doesn't "fake" being sick. And no child wakes up in Disneyworld and "fakes" being too sick to go to the parks-- she was sick most of the week we were on vacation the beginning of the month, as well as much of the summer. This child broke her toe this summer and didn't tell anyone for over 8 hours because she didn't want to have to end her playdate! She is tough and if she is crying because she doesn't feel well then it is serious.

It sure seems like more and more pieces of the puzzle keep falling into place. Thank you all so much for your input and support. It means so much to me right now.

[cassP]

you can be sickest in the mornings even with celiac. also your stomach is usally more acidic in the morning.

for 2 years when i was a teenager- i would almost throw up EVERY morning.. after eating a huge bowl of raisin bran with wheat germ, oj, and a banana.

one day my Dad came into the bathroom and asked if i was PREGNANT!!!!!!! how embarrasing.

[worriedmama]

Saw the allergist today and are going to have Food Allergy testing on Monday. We aren't really expecting anything to show up positive, but then again I am not really sure what to expect at this point. I love my allergist though and she agreed that this is the best place to start to begin to rule things out and narrow down the options. She is the first Doctor to really take me seriously and to completely empathize with how hard it is to see my baby in so much pain and misery. Interestingly she is going to test her for the "Top 8" and for a beef/mammal meat allergy. She said there is new research on this type of allergy with many of the same symptoms.

Today is one full week gluten-free and she ate breakfast this morning for the first time in several weeks. Said her stomach hurt when she woke up, but she said it passed quickly. And she had a normal BM this morning. A girl in her class is gluten-free and it is her birthday today. DD was so excited because her classmate brought 3 gluten-free cupcakes to make sure that DD could have one (and said she would share the 3rd one with her!). She was very eager to make it back to school before lunch so she could have that cupcake!

[ravenwoodglass]

Really??? I hadn't seen anything about that and was actually worried that since she is mostly the sickest in the mornings that wouldn't mean it is food related. And of course the drs just say that means she is just trying to get out of going to school (already been told that several times ). But I know my child and I know that she loves school and hates staying home and doesn't "fake" being sick. And no child wakes up in Disneyworld and "fakes" being too sick to go to the parks-- she was sick most of the week we were on vacation the beginning of the month, as well as much of the summer. This child broke her toe this summer and didn't tell anyone for over 8 hours because she didn't want to have to end her playdate! She is tough and if she is crying because she doesn't feel well then it is serious.

It sure seems like more and more pieces of the puzzle keep falling into place. Thank you all so much for your input and support. It means so much to me right now.

I was always sickest in the mornings, every morning but toward the end it was all day and night every day. I would also wake up in the middle of the night with stomach pain and D. After I was finally diagnosed my GI actually listened when I told him the pain and D would wake me up at night. It was then that he told me that being woken up by an upset stomach and D was definately not an IBS symptom. He asked me why I hadn't told him that in the beginning and I told him I had, he just wasn't listening. If her stomach pain is waking her up out of a sound sleep make sure the doctor knows that.

[Skylark]

My stomachaches were stress triggered and I had them worse when I was on a deadline, less on vacation. Once you have the inflammation, the symptoms can still come and go with how you feel in general.

I'm glad your daughter is feeling better. You must be onto something.

[worriedmama]

Allergy Testing all came back negative. No Food allergies. So we can mark that off the list and move on.

Last night and this morning were bad. She didn't sleep much last night because her stomach hurt so bad: burning, gas, lots of bloating and cramping and "d". I could hear her gut just sitting next to her. I kept her home for a while this morning until she was doing a little better.

The interesting thing is that last night is the first time since we started gluten-free over a week ago that I didn't prepare or supervise the preparation of her food. My older DD made gluten-free cornbread and when it was put on the table I thought to myself "Uh oh. I think there is probably a chance of CC from this." I forget to tell her to use paper wrappers and to wash the pan completely before using it.

Maybe I am reading way to much into it, but it seems very interesting that after the first time I suspect there could have been cc she takes a turn for the worse after doing better.

I need to keep her gluten-free for at least another week or two before putting her back on gluten and see what happens.

[jester]

I hope you can get things figured out for her!

I have been reading up on IBS and many websites (medical and general info) do say that being awakened is NOT an IBS symptom and you should definitely make sure the doctor checks for other causes.

I have so much trouble falling and staying asleep because I'm so uncomfortable - wake up to TRY to go to the bathroom (I have C all the time) - so I am wondering if they'll think that could be IBS. I haven't had my testing yet, but wanted to add that because I've been specifically looking into IBS in case that's what they'll say I have.

Don't let them say it's IBS when it's clearly not.