Incorrect Diagnosis? Not Celiac?

debbie-doodles · June 16, 2008

Hi there. Little bit of background: My daughter is now 5 and a half years old. She was diagnosed at 2 years old. I have been wondering about her diagnosis all along...thinking it might have been incorrect, but have had her gluten free for 3 and a half years. Her symptoms were poor sleep, lots of vomit, and diahrea and irritability. After lots of testing, her bloodwork came back negative (which could happen in a 2year old right?), but the doctor said she tested positive for both of the genes that carry celiac. My husband was tested and only has one gene...but he has aunts and grandparents that have wheat problems too. My daughter had endoscopies done and biopsys. The doctor said they were positive for celiac, but didn't elaborate. He said he was unsure himself if it was celiac or cows milk allergy or something. So we went gluten free. However, at the exact same time my daughter was being test for acid reflux. Which we knew she had pretty bad due to the projectile vomiting. She was put on pills for it, and every time we took her off of them, or lowered her dose, she'd start throwing up and get cranky. So she stayed on them until just under a year ago at which time we took her off of them and she seems fine. Her GI wanted to do a "gluten challenge" on her because he just wasn't 100% sure she had celiac. He said he was 99% sure. I told him to forget it, and haven't been back since then since she had improved. However....now its 3 years later and I'm still questioning if she does have it. The acid reflux has cleared up, so how do I know it wasn't just causing all the issues? And heres the big thing...about a month ago I bought her some new vitamins and gave her one---THEN checked the bottle (I know, big no-no). They had wheat in them. I completely panicked....but NOTHING happened. So if she has celiac disease, wouldn't she have reacted to the vitamins? So then we hid them, but she found the a few nights ago and took 2 or 3 of them. STILL no reaction. Should I do my own little gluten challenge on her and give her just one thing to see if she reacts? What exactly does the biopsy tell the doctor? he never explained to me how he came up with celiac disease. And all the vomit stopped after she got on her acid reflux pills. Any ideas or thoughts? I REALLY REALLY don't want her to have to live gluten free (at her age it has been SO hard...all the birthday parties and pizza, etc) if she doesn't have to. please help.

debbie in Arizona

alisaT · June 16, 2008

Hi there. Little bit of background: My daughter is now 5 and a half years old. She was diagnosed at 2 years old. I have been wondering about her diagnosis all along...thinking it might have been incorrect, but have had her gluten free for 3 and a half years. Her symptoms were poor sleep, lots of vomit, and diahrea and irritability. After lots of testing, her bloodwork came back negative (which could happen in a 2year old right?), but the doctor said she tested positive for both of the genes that carry celiac. My husband was tested and only has one gene...but he has aunts and grandparents that have wheat problems too. My daughter had endoscopies done and biopsys. The doctor said they were positive for celiac, but didn't elaborate. He said he was unsure himself if it was celiac or cows milk allergy or something. So we went gluten free. However, at the exact same time my daughter was being test for acid reflux. Which we knew she had pretty bad due to the projectile vomiting. She was put on pills for it, and every time we took her off of them, or lowered her dose, she'd start throwing up and get cranky. So she stayed on them until just under a year ago at which time we took her off of them and she seems fine. Her GI wanted to do a "gluten challenge" on her because he just wasn't 100% sure she had celiac. He said he was 99% sure. I told him to forget it, and haven't been back since then since she had improved. However....now its 3 years later and I'm still questioning if she does have it. The acid reflux has cleared up, so how do I know it wasn't just causing all the issues? And heres the big thing...about a month ago I bought her some new vitamins and gave her one---THEN checked the bottle (I know, big no-no). They had wheat in them. I completely panicked....but NOTHING happened. So if she has celiac disease, wouldn't she have reacted to the vitamins? So then we hid them, but she found the a few nights ago and took 2 or 3 of them. STILL no reaction. Should I do my own little gluten challenge on her and give her just one thing to see if she reacts? What exactly does the biopsy tell the doctor? he never explained to me how he came up with celiac disease. And all the vomit stopped after she got on her acid reflux pills. Any ideas or thoughts? I REALLY REALLY don't want her to have to live gluten free (at her age it has been SO hard...all the birthday parties and pizza, etc) if she doesn't have to. please help.
debbie in Arizona

You can have celiac's and appear non-symptomatic. The impact can be unseen for years. My sister and I were both diagnosed in our 40's. Through the course of life she's had 3 mis-carriages and "second child infertility" as they called it...there is a 7 year gap in her first and second child. I was never on birth control and had two pregnancies. I wanted more children. I found out I had celiac's last year. I developed severe abdominal pain out of the blue. I was in chronic, unrelievable pain for over 5 months. When it hit me I lost so much weight so fast, my hair started falling out. Because of being non-symptomatic and pain free, I had it...even though I KNEW it was in our family. They told meI had increased risk of colon cancer. I was appalled when pre-cancer polyps were removed eight months ago. Severe acid reflux goes hand in hand with my celiac's. For years I went to the ER with severe chest pains because of the "heart attack" like symptoms. The Emergency room Dr's acted like I was a head case. "was I under alot of stress...???"They couldn't find out why I was hurting, therefore I was imagining it. My best advice is if she's been diagnosed as having it, keep her gluten-free. Having lived through what happens if you wait til you are 48 years old to find out you have it and deal with it, I wouldn't wish it on my worst enemy. You can't take this too serious when she's five.

aikiducky · June 16, 2008

Biopsies look for damage to villi in the intestine. If they were positive for celiac there must have been some significant damage at the time. A positive biopsy is pretty definitive for celiac, blood work can easily be a false negative.

You could ask for the lab report of the biopsies from back then to see exactly what it says. If it says something like "complete villous atrophy" I don't think you need to be in any doubt. Cow's milk allergy can cause some damage to intestines as well but usually not as severe as celiac as far as I know.

It's quite common for especially children to become asymptomatic after a while, not everybody does but quite a lot of children do. Asymptomatic means that you do get the damage to the intestines but you don't show any symptoms to the outside. That's also the reason why earlier they used to think that celiac was a childhood disease that you could outgrow.

I'm not a child obviously, but now after almost four years gluten free I've noticed that my reaction to accidents has become less intense than when I first went gluten free.

I'd say ask for the lab report first and then see where you go from there.

Pauliina

ShayFL · June 16, 2008

What caused severe acid reflux in such a little girl to begin with? My guess is gluten.

I just attended a Celiac Support group here locally over the weekend. One woman there is now in her mid 40's. She was dx Celiac when she was a young child. Then she started eating some wheat in her teens and so her doctor said that she had "grown out of it". So her Mom fed her wheat again. She said all seemed fine until about 3 years ago when she started developing neuro symptoms. It took them a year to figure it out. How? She finally remembered that she had been dx as a child, so they ran the tests and biopsy and both were positive. She also discovered she had cancer. And she has permanent peripheral neuropathy. She cut the tip of her finger off recently and didnt even feel it. She just noticed the blood all over the veggies she was slicing.

It's your child. But if it were mine and she had a biopsy positive dx and 2 CELIAC GENES. I would keep her gluten free. What she does as an adult will be up to her. But I would emphasize the importance of the diet.

Fiddle-Faddle · June 16, 2008

I agree with Shay.

Many of us here had acid reflux caused by gluten. Funny, I always assumed that it was the pasta sauce causing it--and all the time, it was the pasta, not the sauce. I can eat rice pasta and tomato sauce and NOT have reflux, which would have been impossible with the gluten pasta.

The best I can come up with for birthday parties is to make your own cake or cupcakes, keep them wrapped as individual portions in the freezer, and let her take them to birthday parties. Or make gluten-free brownies or other treats. Heck, you can even send her with a bar of chocolate, it doesn't HAVE to be cake!

I send my son to pizza parties with his own gluten-free pizza, made on a corn tortilla. He has not complained, and in fact, when his friends are over, they scarf down the gluten-free pizza and yowl for more.

There are more and more gluten-free possibilities these days. There are national chains like Pizzafusion springing up in major cities, with gluten-free pizza on the menu--and they even deliver! Don't be discouraged--and remember, you are safeguarding her health--way more important than pizza and cake (which you can make gluten-free anyway).

As I remember, Domino's pizza crust always tasted like cardboard anyway!

April in KC · June 17, 2008

Hi Debbie -

I think it's a good idea to request a copy of the report following the biopsy - or ask the GI to go over it with you. Since it's possible for milk intolerance to cause villous atrophy (and in rare cases, other food proteins), that's why the GI might have been somewhat vague about whether it was wheat or milk causing the problems. The slides must have shown some damage, and that combined with the genetics and family history makes it seem very likely that Celiac Disease would be the culprit.

People are so different with regard to their reactions following gluten exposure, that it's hard to say whether your daughter would react to vitamins or not. With a prolonged daily "load" of gluten, if she has Celiac, she will eventually become symptomatic again. Maybe not right away, but probably within months.

Perhaps if you talk to her GI again and he/she agrees, you could do a more controlled gluten challenge. Keep in mind - as a parent, the moment my child complained of a stomach ache, I would not be able to continue such a challenge. And consider whether the foods used in the experiment willl harm her ability to resume a gluten-free life if it turns out that she does have Celiac Disease. [You might consider "challenging" with very boring foods like bread & crackers & wheat cereal - NOT McDonald's, Pizza Hut or things that both you and she will miss if she has to stop...]

My oldest kiddo has an anaphylactic peanut allergy, Celiac Disease, plus allergies to soy, pork and oranges. I understand the birthday party & pizza comment - life with food restrictions is a difficult life. However, if she does have Celiac Disease (strong family history), you should take comfort in knowing that you are doing her an immense service to diagnose her early in life and keep her healthy.

Looking back, I clearly had Celiac Disease as a child (I know because I had the DH rash on my elbows as a kid), but I had atypical symptoms - and I was not diagnosed until age 36. I do not blame my parents for not figuring it out when I was a child - but I wish I could go back and avoid the poor health, osteopenia, miscarriages, etc. My GI symptoms were never very bad - even when I lost weight in the end, it was painless. But it still damaged my health.

Hugs - I know you have her best interest at heart. Good luck figuring out whether to challenge or not.

April