My 3 yo had two gene tests run by his ped gi at Children's in Boston. Both were negative. The doctor said because they are both negative the likelyhood of Celiac is 0%. I've read there could still be a very small percentage that have celiac disease even after negative results. He said continue with the diet because it works but at this point we cannot officially diagnose him with celiac disease. How can I tell people he's sick when I don't even know what he's sick from? I'm so frustrated and confused. I feel like all the time and effort I've put into this isn't being recognized or validated by the doctor and it upsets me. Don't get me wrong, I like the Doc, however, I'm sick of this not knowing, or limbo state. My son reacts to anything that we find isn't on the safe list. It's not in our minds. The inflammation in his duodenum, the severe anemia (which still requires daily doses), the diarrhea since birth, the bloodwork for inflammatory response was 4x what it should have been. His bloodwork last week shows everything is getting a bit better everytime. He's gained a little over 3lbs since december. If it's not celiac disease what else. All his other tests were negative. We're waiting now on his endomysial bloodwork, which I'm sure will also be neg. Anyone else have all this turn into something else? I'm at a loss, kinda ready to throw in the towel and try to give him something with wheat only, just to see how he reacts, then something with barley only, etc, etc. I just don't know. Sorry for the ranting. I'm so confused.

Hi, I am so sorry you have had such a time with your little one. It is so upsetting when your child is sick, I know. Did they say anything about checking him for gluten intolerance gene? I have one gluten intolerance gene and am in the 1% I guess who have positive tests and malabsorbtion. I have read that experts believe that there is evidence of another unknown gene possibly in play with this, but it has not been identified. The proof is in the diet, though. If he is well gluten-free, then keep him gluten-free. I would consider that proof. Also, I would recommend enterolab. It is easy and non-invasive. At the very least, get the gene test--he may have the gluten intolerance gene. Maybe some of the others who know more about this than I do will post soon. I am still learning so much from everyone here and consider this forum a lifesaver. Take care & I hope he is on the road to health soon.

Hi Robbin and thank you

I am considering the enterolab test. However I am curious as to why they can't "diagnose". I sent an email to them asking this question tonight. In the meantime, if anyone has the answer for me I'd appreciate it. The diet is the only thing that has made my son feel better. Don't get me wrong, he has his ups and downs, and I can usually find the culprit (9x's out of 10). I'm just looking for answers to questions I've had for 3+ years. He's had problems (colic, diarrhea, stomach trouble, reflux, food sensitivities, on and on) since birth. Again, I may try giving him food with gluten in it. I'll be wracked with guilt if he becomes violently ill and it lasts longer than a day but I think I need to know I'm doing right by him and make sure the diet is what's making him better.

My GI said you cannot have it if you do not carry the gene. IMO you need to take a breath and regroup. It isn't Celiac. That is a good thing! An awesome thing!! So now focus on what it is or could be. Look into the intollerance. The symptoms are the same. The diet is the same. So if he is reacting good to the diet it is possible and likely. Talk with your dr about looking for an intollerance to gluten. And try ruling out allergy (which sounds like it might not be that but rule it out all the same). Just because he isn't Celiac but responds to the diet doesn't mean you are crazy. One step at a time. That is all we can do. I have wanted to do the same thing....give my daughter bread or something just to prove I am not nuts. But I KNOW she reacts and so I wouldn't be doing any justice to her by doing it. Hang in there.
((((hug)))))

Gluten intolerance will cause the same kind of reactions as celiac, but again the proof is in the response to the diet. Many drs. accept just the diet response as proof that gluten is indeed the problem, and put their patients on gluten free. My response from enterolab was that I need to stay gluten free and casein free because of my test results. I was so ill I could barely walk from bed to bathroom. Getting off gluten produced dramatic results-I tried a gluten "challenge" and was immediately and violently ill. That's enough proof for me, even if I wouldn't have had the tests, it is poison to my body and would never be able to continue to go on that way. I recommend you check out the enterolab.com site under "Frequently asked Questions about Results Interpretation".
I hope that your son gets better soon and you find the answers. Perhaps it is another food, or casein, or gluten intolerance, or even an enzyme deficiency. Ask your dr. about an elimination diet. Get as much information as you can. You know your child better than anyone. Write down everything that goes into his mouth and the reactions he has. I had to do that with my son. Perhaps his intestines are in such an irritated state that everything is bothering him and he just needs to heal before you can get a clear picture of what is going on. Don't let the dr. brush you off. He can't call a 3-year old a hypochondriac!! It HAS to be something! Take care & God bless.

Both my GI and current doctor have stated that Celiac cant be ruled out 100% with a gene test alone. At this time they have not yet identified all genes assoctiated with Celiac. There are a small % of people with biopsy proven Celiac that do not carry either of the main genes.

Also Gluten Intolerance (non-Celiac) can cause the same symptoms and is no less damaging. You can still suffer tissue damage (just not flattened villi) and you are still at risk for autoimmune disease and other health problems. There are many forms of gluten intolerance and Celiac Disease is just one form. I would recommend reading Dangerous Grains...its got alot of info about both Celiac and Non-Celiac Gluten Intolerance.

The reason Enterolab cannot officially diagnose Celiac is because the biopsy is still considered the "gold standard" for diagnosis. Enterolab can identify anti-gliadin antibodies and this proves that there is an immune response taking place...it can identify tTG...which indicates that an autoimmune response is taking place and there is subsequent tissue damage. They cannot verify if this is Celiac Disease or non-celiac gluten sensitivity. You can get the gene test to figure that out yourself. If you dont carry a Celiac gene the chances of developing Celiac are slim but not impossible. If you have gluten sensitivity genes and positive test results you most likely will never have flattened villi (Celiac) but you can still suffer damage. The treatment is the same for both conditions...no gluten.

I was also told by two GI's that the genetic test could rule out Celiac but not confirm it. My son was showing high levels of antibodies but the biopsy was questionable. So he sent the biopsy out to Columbia University for a second opinion and a sample of blood out to a specialy lab in California (I can't remember the name of the lab). He asked them to run the antibody test and the gene test. He said that if the gene test was negative there was no reason to be looking at Celiac any further. All tests came back positive. It is my understanding though, that gluten intolerance causes all the same symtoms. Either way, you shouldn't worry about how you are going to explain that he is sick without a diagnosis. Isn't being gluten intolerant a diagnosis that should be taken as seriously as Celiac? Think of how seriously the schools have to take food allergies. This would have to be treated the same way. Good luck.

I've been driving myself nuts with all this. I guess my biggest worry is what people are going to think. I guess I have to get over that. I've also read about the gene theory. I try to read as much as possible and sometimes there's so much contradiction. It's hard to figure it all out. I've read that inflammation in the duodenum (small intestine) is found in celiac disease. My son was found to have chronic duodenitis with possible erosion. He does not have ulcers. There wasn't anything found anywhere else. We're still waiting for the endomysial antibody test to come back. I'm sure this will be negative as well. I don't know where the tests are sent. Maybe he is non celiac gluten intolerant. It's pretty much the same in the way of symptoms right? I'll just have to wait and watch. I'm still considering enterolab. Anyone elses biopsy show inflammation such as my sons?

Let's put it this way, nobody is going to go and look up medical records except for a doctor, and another dr will probably look at his file and say celiac. Your girlfriends, family, teachers, and classmates are not going to look up records. They won't question you, and you shouldn't question you either.

Doctors don't like diagnosing this because they don't want to necessarily "condemn" someone to this lifestyle for life, but screw that, they'd rather condemn a child to years of pain than take away their cheerios.

I had inflammation of my stomach lining in my endoscopy, but they weren't looking for celiac. I had that done 2 years ago, and the dr sent me on my way with nexium that didn't work. In January of this year, I asked my internist if my stomach problems might be caused by food allergies, not IBS. She suggested a Celiac panel, and it came back inconclusive. She put me on the diet, and when I went to see her a month later, with positive dietary response, she made an official Celiac dx.

The best indicator of whether he is celiac or not is dietary response. Even if it is just gluten intolerance, it doesn't matter, the treatment is the same.

Do what you need to keep your kids healthy and have no shame or reservation in doing it!

Why are you worring about what people think? I agree...the only one you have to worry about it your son and working with the drs. I dont' even mention Celiac or Gluten Intollerance to outside people. They wouldn't understand. I tell them she is allergic to wheat/barley/oats, etc. They understand that and don't need to know much more than that unless I feel they need too. And I don't care what they think. I tell teachers/church/sitters/family/etc not to give her anything unless it is provided by me as she is "allergic" and to make sure (due to her age) that she never picks up anything and puts it in her mouth and that is all they need to know.

Are you worring because you have told everyone about it might be Celiac and it isnt and they might think you are crazy now!? LOL! I think that too since we don't have an "offical" diagnosis. You wouldn't be alone. I still dont' care. In the end...I am the mother and what I say goes. I know something isn't right and that is all anyone needs to know. ((((((hugs))))))) Hang in there. You WILL find an answer. You AREN'T crazy. It might take some time and regrouping but it will come. And no cheating to see if you are right!!! I know where your thinking is coming from. In the end it is best to just continue on the gluten-free diet till you find some answers.

Everyone here is so awesome! Thanks a bunch. I received a response from the RN at Enterolab. I guess Dr. Fine is out of state. She was very heartfelt and helpful with her answers. My response to people from now on will just have to be to pi** off if they don't get it or don't want to. I think the biggest hurdle were my in-laws. They're set in their ways and, well. I think now they're at least trying to understand except they don't get the sensitivity of it. I guess they have to start somewhere.

Thanks again

I get that too from my family! My parents think an allergy is just a really long cold and the Celiac is something I made up and who can have an intollerance cause after all "all that kind of food is good for you and so how could it be bad for you?" The best part....."drink more water and don't eat late at night...that is the whole problem" LOL! I still say I'm the boss and if you don't get it that is your problem. Just shut up and follow the rules! LOL!