My Daughter Just Diagnosed And I Have A Couple Questions

[scstampin]

Hi everyone,

My 3 year old daughter has been having constipation issues since she was a baby. It has gotten really bad over the past 6 months and after she didn't poop for somewhere between 8 and 10 days, the Dr. did an xray, which showed she was completely backed up and full of stool. We started daily enemas, then went down to every other day along with miralax daily to try to clean her out. After a few months of still being backed up and little results we were referred to a pediatric GI. They did a gastrograffin enema to check for anything anatomical, and everything checked out there. They also did blood work to check for Celiac disease and check her thyroid. I just got the results back yesterday:

the thyroid was slightly elevated so they will be checking into that a bit more with another blood test.

Here are her celiac test results:

tTg level was 64. (normal range 0-3)

IgA was 30 (normal being 20 -100)

I don't really know what those results mean, can anyone explain them to me a bit? She is scheduled for an endoscopy next wednesday to confirm the diagnosis. The dr. did say that sometime there are false positives, does anyone know how often that actually happens? I don't know anything about tTg levels but 64 seems very high to me if it is supposed to be 0-3.

My other questions is about myself. I have had diarrhea issues for at least 10 years, off an on. Sometimes I get constipated, but not as often. I am never "regular". I have also had low iron for years and have been off and on Slow fe probably at least the last 10 years as well.

I had a colonoscopy and endoscopy done 2 weeks ago due to severe upper abdominal pain ever since I had my gallbladder removed back in December. I was diagnosed with GERD and Barrett's esophagus and am now on some medications for the acid and bile reflux.

Anyway, they did test for Celiac as well, but it came back negative. After getting my daughters positive blood result I am questioning if there is any way the biopsy could miss it if I do have it? Does anyone know the accuracy of the test?

Along with the diarrhea/constipation issues, and low iron, I also seem to be tired all the time, have a lot of stomach aches, infertility issues in the past, anxiety, irregular periods(just recently started), and really dry skin and scalp.

Any input you may have would be greatly appreciated!

[1desperateladysaved]

I think trying a grain free diet would be a really good idea for both of you. Health to you.

[pricklypear1971]

Hi everyone,

My 3 year old daughter has been having constipation issues since she was a baby. It has gotten really bad over the past 6 months and after she didn't poop for somewhere between 8 and 10 days, the Dr. did an xray, which showed she was completely backed up and full of stool. We started daily enemas, then went down to every other day along with miralax daily to try to clean her out. After a few months of still being backed up and little results we were referred to a pediatric GI. They did a gastrograffin enema to check for anything anatomical, and everything checked out there. They also did blood work to check for Celiac disease and check her thyroid. I just got the results back yesterday:

the thyroid was slightly elevated so they will be checking into that a bit more with another blood test.

Here are her celiac test results:

tTg level was 64. (normal range 0-3)

IgA was 30 (normal being 20 -100)

I don't really know what those results mean, can anyone explain them to me a bit? She is scheduled for an endoscopy next wednesday to confirm the diagnosis. The dr. did say that sometime there are false positives, does anyone know how often that actually happens? I don't know anything about tTg levels but 64 seems very high to me if it is supposed to be 0-3.

My other questions is about myself. I have had diarrhea issues for at least 10 years, off an on. Sometimes I get constipated, but not as often. I am never "regular". I have also had low iron for years and have been off and on Slow fe probably at least the last 10 years as well.

I had a colonoscopy and endoscopy done 2 weeks ago due to severe upper abdominal pain ever since I had my gallbladder removed back in December. I was diagnosed with GERD and Barrett's esophagus and am now on some medications for the acid and bile reflux.

Anyway, they did test for Celiac as well, but it came back negative. After getting my daughters positive blood result I am questioning if there is any way the biopsy could miss it if I do have it? Does anyone know the accuracy of the test?

Along with the diarrhea/constipation issues, and low iron, I also seem to be tired all the time, have a lot of stomach aches, infertility issues in the past, anxiety, irregular periods(just recently started), and really dry skin and scalp.

Any input you may have would be greatly appreciated!

I suggest you go to the University of Chicago Celiac Center website and start reading - specifically the fact sheets. Just google it.

[Takala]

Welcome.

Both kinds of tests, the blood tests and the endoscopy biopsy, can sometimes miss. The damage is patchy and they may not take enough samples. (False positives on blood tests, however, are rare.)

Stay on gluten until testing is done. You then may want to trial going gluten free, even if your test(s) are negative, because of your symptoms and your daughter's positive blood test.

[beachbirdie]

Welcome to the forum!

What did they mean by saying your daughter's thyroid was slightly elevated? Did they mean her TSH (which would mean underactive thyroid) or did they mean her thyroid hormone levels were elevated (which would mean overactive thyroid)?

What were the exact celiac tests they did on you? It would be helpful to know, sometimes they do not do a complete job of testing. Among celiacs, each one of them might have tested positive on only one of several tests, and each of them might have been positive on a different one. Celiac testing is not simple.

False positives are rare, false negatives are common.

Can you get copies of the complete results for you and your daughter and post them here?

Your daughter has a positive celiac test. The TtG test is a test of autoimmune tissue damage in which the body is attacking itself, in the lining of the intestine. That is why they are doing a biopsy, though biopsies are not perfect. What I cannot answer is how much to rely on the TtG test, not knowing if it is the IgA version or the IgG version. I'm guessing it's IgA, but that's only a guess. Celiac testing is difficult in children, they present with a lot of false negatives. Which makes your daughter's test all the more meaningful.

I am agreeing with those suggestions that you might benefit from gluten free eating, but not until the testing is done. To start a gluten free diet will skew the testing and make a real diagnosis almost impossible. You certainly have symptoms that can be associated with gluten sensitivity, but they can also go with other things so you need to be working with your doctor on that. GERD is definitely a companion to celiac!

Hope all will get sorted out quickly for you.

Just a reminder...most of us are not medical professionals, and all we can do is offer ideas from our experiences, as well as guide folks through unfamiliar medical territory.

[scstampin]

Thanks beachbirdie

Yes her TSH level was slightly elevated. Her regular pediatrician wasn't too concerned, but wanted to check her T3 and T4 levels. I have no idea what those mean, but that was just what I was told.

I have not had a blood test done for Celiac disease, but I have had the biopsy. I was having the endoscopy done for other reasons, but asked specifically if they could also check for Celiac disease because of symptoms I have had for years and they said they would taking a biopsy for that as well. I don't have a copy of my results, but was told I was negative for Celiac.

I do have a copy of my daughters test results. Here is what I have:

Lab Results

05/10/2012 08:00 AM: Signed-Off/Final: ORDER:TSH

TSH: 05/10/2012 08:51

Description Result Units Range Flags

TSH 4.92 uIU/ml 0.50-4.80 H

05/10/2012 08:00 AM: Signed-Off/Final: ORDER:IgA+t-Tran

IgA+t-Tran: 05/10/2012 00:00

Description Result Units Range Flags

Immunoglobulin A, Qn, Serum 30 mg/dL 20-100

t-Transglutaminase (tTG) IgA 64 U/mL 0-3 H

omments:

Performed At: DA, LabCorp Dallas

7777 Forest Lane Suite C350, Dallas, TX, 752302544

Celeste, Vardaman, MD, Phone: 9725667500

Performed At: BN, LabCorp Burlington

1447 York Court, Burlington, NC, 272153361

William F, Hancock, MD, Phone: 8007624344

t-Transglutaminase (tTG) IgA: Negative 0 -

3

Weak Positive 4 - 10

Positive >10

.

Tissue Transglutaminase (tTG) has been identified

as the endomysial antigen. Studies have demonstrated

that endomysial IgA antibodies have over 99%

specificity for gluten sensitive enteropathy.

So looking at her results it looks like it is the IgA version right? Which again, I don't really know what that means. But they said 64 is pretty highly elevated (maybe for how young she is too..I don't know?) , so I guess I am assuming the biopsy will just confirm the diagnosis. As much as I would love for the blood test to be a false positive and for my daughter not to have to be gluten free forever, I am not expecting that to be the case. And at this point, she is so miserable sometimes I just can't wait to have the test done and remove the gluten so hopefully she can just be a happy and healthy little 3 year old girl!

I also agree that I could benefit from gluten free eating probably, but I also would like to have a correct diagnosis as well, and know for sure before I do this. We will probably go gluten free in the whole house when we make that transition after the biopsy for my daughter. But I would definitely like to have an accurate diagnosis for myself and know if I have to absolutely be gluten free for the rest of my life, or not.

Thank you so much for your help! I truly appreciate it!

[beachbirdie]

Thanks beachbirdie

Yes her TSH level was slightly elevated. Her regular pediatrician wasn't too concerned, but wanted to check her T3 and T4 levels. I have no idea what those mean, but that was just what I was told.

I have not had a blood test done for Celiac disease, but I have had the biopsy. I was having the endoscopy done for other reasons, but asked specifically if they could also check for Celiac disease because of symptoms I have had for years and they said they would taking a biopsy for that as well. I don't have a copy of my results, but was told I was negative for Celiac.

So looking at her results it looks like it is the IgA version right? Which again, I don't really know what that means. But they said 64 is pretty highly elevated (maybe for how young she is too..I don't know?) , so I guess I am assuming the biopsy will just confirm the diagnosis. As much as I would love for the blood test to be a false positive and for my daughter not to have to be gluten free forever, I am not expecting that to be the case. And at this point, she is so miserable sometimes I just can't wait to have the test done and remove the gluten so hopefully she can just be a happy and healthy little 3 year old girl!

I also agree that I could benefit from gluten free eating probably, but I also would like to have a correct diagnosis as well, and know for sure before I do this. We will probably go gluten free in the whole house when we make that transition after the biopsy for my daughter. But I would definitely like to have an accurate diagnosis for myself and know if I have to absolutely be gluten free for the rest of my life, or not.

Thank you so much for your help! I truly appreciate it!

Thanks for sharing the results. Yes, your daughter has an elevated TSH which means underactive thyroid. It would be VERY important to get her T3 and T4 checked, those are the actual hormones produced by the thyroid gland (make sure they test "free" and not "total"). At the tender age of 3, your daughter very much needs her thyroid to be functioning well for brain development and normal growth. If my child came back with that high of a TSH I'd be all over the doc to dig deeper, and would find another if the doc took a "wait and see" attitude.

The IgA test measures a specific family of immunoglobulins. There are 5 different kinds in the body (IgA, IgD, IgM, IgE,IgG), and each of them have specific functions. Some attack germs, some attack other things. For example, allergies are mediated by IgE. Each class of antibodies has specific sub-groups that also have names (well, numbers).

When you see a test for TtG IgA, it means the IgA family of antibodies is attacking an enzyme present in the tissue of the intestine (an enzyme which is NORMAL to have). That is the basics of "autoimmunity". The body is attacking something that is supposed to be there, but the immune system mistakes it for an invader.

Since your daughter's total IgA is so low, she is ALMOST in the range of being IgA deficient. To me, that makes her high TtG IgA even more meaningful.

Has anyone suggested having the gene workup? It doesn't diagnose celiac, but can give you and idea of the risk factors for you.

If you are going to get blood testing (and I sure would, if I were having symptoms) you need to be eating plenty of gluten for several months before you test. A negative biopsy once doesn't mean you are celiac free forever. Since your daughter is so positive, it actually increases the likelihood that you will have problems too. How about your daughter's dad...does he have any issues? Do you have any idea of the health issues encountered by more distant members of your family or your daughter's dad's family?

The choice to go gluten free as a household or just keep your daughter gluten free is really personal. There is a discussion here at the forum on that, if you haven't found it it is HERE, You might enjoy reading all the different ideas people have shared!

[scstampin]

Thanks for the information on the thyroid. Her GI doc did not mention it at all when she called me to let me know of the positive result for Celiac. We will definitely be getting her T3 and T4 checked. I knew nothing about what these results meant and assumed her GI would have let us know if there was anything to be concerned about with the level. Luckily her pediatrician did notice that it was elevated and she does want to checked out further, so that is a relief.

What does test "free" and not "total" mean?

What should a normal TSH level be for a 3 year old be? So would that be hypothyroid or hyperthyroid then if her TSH level is high?

We have heard a little about the genetic testing, and my husband and I talked about doing it for myself, and possibly our other 3 children. Is it correct that if we have the genetic testing done and do not have the gene that we can rule out celiac disease for sure for that person?

My mother has a lot of bowel issues and was diagnosed 30 years ago with IBS. She has never had any kind of follow ups for that, and she has never been tested for celiac disease. With what we have been going through, she is going to ask for the test now I believe.

One of my younger sisters has a lot of problems with constipation, similar to my daughter where she is completely full of stool, and can't seem to stay regular for any extended period of time. She also has other symptoms of fatigue, extremely dry skin, she has started losing a lot of hair to the point where she has a couple bald spots. My other younger sister has just recently started having a lot of problems with constipation as well. Neither of them have been tested, but they have both thought about asking their docs to do it.

My husband does not seem to have any digestive issues or any other symptoms.

Thanks to the link to the other discussion, I will be heading over there now to see what other families are doing.

[1974girl]

My daughter was diagnosed with low thyroid at 7 after she didn't grow for about a year. So keep this in check! Low thyroid can also cause contipation. I am sure that is why they checked that. 4 years later, my same child was diagnosed with celiac. But...Ttg can be high from low thyroid, too. Do the biopsy but INSIST that they take at least 6-10 biopsies in different places. Ask specifically for the duadenal bulb (sp?). Sometimes it hides in there and that is the ONLY place my daughter's was found. My youngest had a endo and colonoscopy for generic tummy aches. Nothing was found. When her big sis was diagnosed with celiac, the doctor literally opened the door and yelled down the hall for her chart. He said, "I was looking generically, I didn't take enough biopsies to look for celiac!" He had only taken one at that time. We are now having to do more blood work on daughter #2 to see if she possibly had it and they missed it. I only say that to say this...they most certainly could have missed yours in a biopsy. Have your own blood work done. I heard the saying "If you shake the celiac's family tree, others are sure to fall." We are still trying to convince our family of that but they all would just rather not know.

[scstampin]

Thanks 1974girl! I don't have a copy of any of my results, so I have no idea how many biopsies they took or where from when they did my scope, but now I would like to know! They weren't doing the scope primarily to check for Celiac, it was for other reasons, but I asked them to check, so I wonder if they just did like one biopsy or something.

I will definitely be making sure they are going to take a number of biopsies in different places, and the duadenal bulb when they do my daughters test. I have no idea what/where that is but I will look it up!

I am supposed to have another endoscopy probably in the next month or so because the GI doc wants to do another biopsy to confirm that I have Barrett's esophogus, because at the initial scope I had a lot of inflammation in my esophagus. Anyway, I am wondering if I should get the blood test before the next endoscopy, and then would possibly have a positive blood test before that to bring in. Either way, since I have to have another endoscopy, I want them to re-biopsy for Celiacs.

I am sorry your family doesn't want to find out, I am sure that is frustrating! My sisters and mom are all considering getting tested with everything we are now discovering. (they do all have digestive issues or other symptoms)

[MitziG]

Your doctor is like most, relying on what used to be considered "the gold standard" for dx celiac disease. Biopsy isn't really necessary in most cases, and celiac can still easily be missed.

False positive blood tests are so rare they can basically be dismissed as non-existent. Coupled with your daughters symptoms, it is safe to say she definitely has celiac disease, despite whether the biopsy confirms this. After the biopsy, take her 100% gluten-free and you will see a difference, I have no doubt.

Ask for the blood test for yourself. Even though you were previously biopsied, it may have been missed. Whether your blood tests confirm celiac or not, you should go gluten-free as well. Your symptoms are very, very typical of celiac disease.

While bowel issues often resolve quickly on a gluten-free diet, other issues may take months or even years to completetly heal, so give yourself time.

Welcome to the boards, you will find lots of good info here. And hopefully, better health for both of you!

[beachbirdie]

Thanks for the information on the thyroid. Her GI doc did not mention it at all when she called me to let me know of the positive result for Celiac. We will definitely be getting her T3 and T4 checked. I knew nothing about what these results meant and assumed her GI would have let us know if there was anything to be concerned about with the level. Luckily her pediatrician did notice that it was elevated and she does want to checked out further, so that is a relief.

What does test "free" and not "total" mean?

What should a normal TSH level be for a 3 year old be? So would that be hypothyroid or hyperthyroid then if her TSH level is high?

I think at 3 your daughter's TSH is supposed to be pretty close to the adult range. A pediatric doc can confirm that, or Dr. Google as well . Thing is, since you are also dealing with the pretty definite diagnosis of celiac, the thyroid issue could be secondary to the celiac. If the thyroid is not dangerously out of whack, you can discuss with the doc whether it would be okay to wait on treating the thyroid, and see if it recovers on a gluten free diet. You would just want more frequent testing to see how it's going.

Hormones travel around the body in "free" form or in "bound" form. The "bound" hormone is stuck to proteins that are holding the hormone in storage, and is not available to the cells. Kind of like lunch in a lunchbox. The "free" form is active and readily available for use in the body. T4 is actually a "pre-hormone", T3 is the one that is picked up by receptors in the cells and used for metabolism. T3 is made from T4 by stripping one iodine atom from the molecule.

I know, TMI, LOL! But, it lets you know how to double-check what they are testing, and that it IS important to make sure they do free hormone rather than bound. You can have lots of lunch locked in your lunchbox, but you will starve if you cannot open it. Your cells have the same problem with bound hormone.

You might just ask them to do testing for thyroid antibodies. Celiac is commonly associated with autoimmune thyroid disease. You'd want thyroid peroxicase antobodies (anti-TPO) and thyroglubulin antibodies (anti-TgAb).

We have heard a little about the genetic testing, and my husband and I talked about doing it for myself, and possibly our other 3 children. Is it correct that if we have the genetic testing done and do not have the gene that we can rule out celiac disease for sure for that person?

Generally, not having the genes makes celiac very unlikely, but not impossible. There are a small number of celiac cases who do not have the genes tested for in the USA. Other countries look at other genes, and find associations between celiac and genes that aren't tested for in the USA. So it's not 100% certain!

My mother has a lot of bowel issues and was diagnosed 30 years ago with IBS. She has never had any kind of follow ups for that, and she has never been tested for celiac disease. With what we have been going through, she is going to ask for the test now I believe.

One of my younger sisters has a lot of problems with constipation, similar to my daughter where she is completely full of stool, and can't seem to stay regular for any extended period of time. She also has other symptoms of fatigue, extremely dry skin, she has started losing a lot of hair to the point where she has a couple bald spots. My other younger sister has just recently started having a lot of problems with constipation as well. Neither of them have been tested, but they have both thought about asking their docs to do it.

My husband does not seem to have any digestive issues or any other symptoms.

Thanks to the link to the other discussion, I will be heading over there now to see what other families are doing.

I'm glad your family is open to testing! I hope you'll all be finding your way to great health, and that will carry down for generations after you!

[Cara in Boston]

Not sure if this has been said or not, but with your daughter's positive blood test, EVERYONE in the family should get their blood tested regardless of symptoms. Do this before you change anyone's diet. Then you can decide, based on test results and symptoms (or lack of) who needs further testing (endoscopy) and who doesn't.

And keep in mind that negative now does not mean negative for life. Our doctor told me that my negative son needs to be tested (blood screen) every two years - sooner if symptoms develop.

Once you change your daughter's diet, you will probably cook more gluten-free meals so you will also be altering everyone else's diet - get the tests run ASAP while everyone is still eating "normal" gluten food.

Cara

[nora-n]

Normal TSH is very close to 1, and most normal people have aTSH of around 0,6-1,5 or so.

[scstampin]

Thank you so much everyone for all of your advice and input! It has been so helpful for us.

I am going to call the pediatrician tomorrow and request blood tests for my other 3 children, hopefully before wednesday. My daughter's biopsy is wednesday, and we have decided to start her gluten free as soon as that is done, unless her GI tells us otherwise, so meals at home will be gluten free and so will snacks as of wed. Eek! We are feeling very overwhelmed at the moment, but so glad to have this forum to help!

My question is, what do I need to specifically ask for when I request the blood tests for the other 3 kids??

I think I will just print this thread too so I know what to ask for when they do the thyroid test and the biopsy!

[scstampin]

Just thought I would post an update. My daughter had her biopsy done, and the results came in today confirming celiac disease.

[Cara in Boston]

Glad you got answers.

I just re-read your original post - with your symptoms, you should go gluten free with your daughter. Not only will it give her a "partner" in this adventure, I think you will be amazed at how much better you feel.

Don't forget to get everyone tested before you change the way everyone eats at home.

Cara

[beachbirdie]

Just thought I would post an update. My daughter had her biopsy done, and the results came in today confirming celiac disease.

Wow. Well, it is good to have that answered definitively! It will be interesting to see if the dietary changes help normalize your daughter's thyroid levels.

[scstampin]

Yes, it is definitely a relief to have answers, but it was also hard to hear the results even though I was not surprised.

The other 3 kids got their blood tests today and I had mine yesterday. Just my hubby left to do the test. I will be happy when we get the results back and I don't have to make gluten food for the other 3 kids and gluten free for my daughter. It's been hard on her with them eating "regular" food, and her having "special" food, especially between her and her twin. They do everything together and everything always needs to be equal!

I agree, I will be curious about her thyroid levels after she has been gluten-free for a while....