Test Are Confusing Me

[mom2matt]

Hi all,

Ok my story is weird, My son Matt who is 6 is a type 1 and was having belly pain, so the dr did EGD and genetics, but the genetics came back that he carries the gene, but she said other test say he dosnt have it.. What is she talking about? Is he going to get it or dose he have it?

Any info will be great.

[GFhopeful]

As I understand, you can have the genes for Celiac but not have Celiac - it doesn't mean that you will eventually get it either. If the biopsy did not show damage to the villi and all blood tests (besides gene test) were negative, he does not have Celiac. I think that around 30% of the population has the gene markers (could be wrong but I know it's a much larger # than actually have Celiac). Because he has the genes, I think that he could or could not have issues in the future.

Also, I do not have the genes for Celiac but my docotr said that this doesn't mean that I don't have some gluten sensitivity.

So, it all comes down to trying the diet for a good trial (like months, not weeks) and seeing if symtoms get better. Hope this helps.

There are many much more knoweldgable than me on here that will hopefully respond and clarify.

[happygirl]

Having the gene doesn't mean that any one person will have Celiac. About 30%+ of the American population has one or both of the genes, but only about 1 in 133 Americans (less than 1%) has Celiac....so JUST the gene doesn't equal Celiac. But, not having the gene often rules OUT Celiac...about 95%+ of Celiacs have one or both of the genes.

The biopsy is considered the "gold standard" for diagnosis. Did the dr take multiple biopsies? Did she do the bloodwork?

[mom2matt]

Having the gene doesn't mean that any one person will have Celiac. About 30%+ of the American population has one or both of the genes, but only about 1 in 133 Americans (less than 1%) has Celiac....so JUST the gene doesn't equal Celiac. But, not having the gene often rules OUT Celiac...about 95%+ of Celiacs have one or both of the genes.

The biopsy is considered the "gold standard" for diagnosis. Did the dr take multiple biopsies? Did she do the bloodwork?

The doctor did biopsy, but i cant say if it was more than one. Then a week later she called to tell me that she wanted to do blood work, cause something was weird on his EGD. Now today she said that he dose carrie the gene for celiac, I told her that he has a lot of symptoms, but she said his other blood test said he was negative.. Just dont know what to make of all this,,

[buffettbride]

So, were the results:

Negative for Celiac on biopsy

Negative for Celiac on blood tests

Positive for Celiac gene?

If so, I'd remove gluten and see if that improves the symptoms. If not, maybe remove dairy. Then soy. If symptoms improve then keep it up. If symptoms don't improve, then maybe work further with your doctor?

Being positive for the gene right now but not having biopsy/blood come back positive could simply mean there is not enough damage to diagnose. You don't need ANY damage to try the gluten-free diet and hopefully an improvement in health. If your child's health improves being gluten-free, then there's your answer.

[gfgypsyqueen]

If it helps any, here's my daughter's story.

Had symptoms of celiacs. Did the biopsy and the results were inconclusive. She has one gene. We went through all of the other foods and medical issues and finally removed the gluten. She shows signs on accidental glutening. Plus the other symptoms like the rashes and starving hungry, have gone away. She has gained some weight too.

So, I would persue all logical medical reasons for your sons issues (not sure what they are), then eliminate gluten and see what happens. Another option is the Entero Labl tests.

[Ursa Major]

The bloodwork and the biopsies have been shown to be extremely unreliable in young children (and aren't all that reliable in adults, either).

If your son has the genes and has obvious symptoms, I say that the villi aren't destroyed yet to the point of being able to get an 'official' diagnosis, but it is bad enough for him to be sick.

If he was my kid, I would NOT wait for the damage to get so bad that he would finally test positive. By then he could have stopped growing, being too weak and listless to play, be doing poorly in school and a host of other issues. Plus, malnutrition would be so bad that it would take months to fix.

I suggest to try him on the gluten-free diet to see if it helps. And eliminate dairy as well, as it would likely hinder healing (the same goes for soy). If you want a better diagnostic tool, try testing with Open Original Shared Link. It is non-invasive (by stool sample) and far more accurate than blood tests.

Besides, your doctor didn't even do the full celiac panel for the bloodwork (there are five tests, not two), which just shows her ignorance when it comes to celiac disease.

[happygirl]

I would also follow up and find out what was "weird" about his biopsy.

[mom2matt]

You guys are great. Thank You so Much for helping me in the understanding of this Problem. When We go back to the GI doctor, I will let them Know we want to Go Gluetin Free... I see no harm in doing it what so ever... I jst hope Our Childens hospital will take time to help us..

Thank You Very Much,

Kathy Ellis

mom to Matt-- DX- With Diabeties, Asthma, reflux, and 4 ulcers..

[tazallie]

Hi

I juat wanted to add that just because your son is testing negative on biopsy and blood does not mean he does not have gluten intolerance, medically known as 'Non Coeliac Gluten Intolerance' or NCGI. And the only way to diagnose this after all the coeliac tests are negative is to enter on a gluten free diet and monitor with your doctor any improvements.

Its believed that around 10% of the western population has gluten intolerance but only 1% of that group will then test positive by biopsy for coeliacs.

The symptoms and problems of NCGI are exactly the same and can range from very mild to very severe, the only difference is that with NCGI the villi are not damaged in the same way as they are with ceoliacs.

A person with NCGI can test positive for the coeliac gene but negative for anything else and it is suggested that in this type of case there is a possible predisposition for the patient to develop full coeliacs later.

I hope this helps and as happygirl said chase up what was weird on the biopsy

[Guest Doll]

Hi all,

Ok my story is weird, My son Matt who is 6 is a type 1 and was having belly pain, so the dr did EGD and genetics, but the genetics came back that he carries the gene, but she said other test say he dosnt have it.. What is she talking about? Is he going to get it or dose he have it?

Any info will be great.

I think plenty of helpful info has been given here, so I just wanted to point out something that made me smile! I know it could be a typo, but you stated that your son "is a Type 1". Us "Type 1"'s tend to use this term among ourselves, mainly on diabetic forums and boards, etc. If I were to say I had Type 1 instead of Type 1 diabetes to a lay person, more than likely they would look puzzled.

Just thought it was cool, since I refer to myself as a "Type 1" all of the time. We're an exclusive club in the land of diabetes.

P.S. The gene(s) that predispose to Type 1 diabetes generally also predispose to Celiac as well. So I am not surprised he tested positive. While it is true that other genes seem to be needed as well, and having the gene alone does not create the disease (the disease must be triggered just like how his diabetes was), I think you should give the gluten-free diet a shot. It is true that testing is less accurate in young children. Especially if he is having symptoms, their is NO reason your doctor should not support you going gluten-free. I think most pediatric endocrinologists will err on the side of caution and agree with your plan. I think a gluten-free/Gluten-free Casein-free diet can never be a bad thing in a child with autoimmune diseases.

I know not everyone on the board agrees with my stance on new Celiacs seeing a dietician (*familiar with Celiac*). For some it really can help. In this case, I think it is very necessary for a young child with Type 1 diabetes on the gluten-free diet. The carb counts for gluten-free foods are very different, and it may be hard to initially adjust his insulin dosing. Your doctor should be able to refer you to a "pediatric" dietician familiar with Type 1 diabetes and Celiac, preferably a Certified Diabetes Educator. Although you can learn *a lot* from this board, I think a knowledgeable dietician can help make the transition easier. I think I have a "Type 1 diabetes and Celiac" handout laying around somewhere, I can scan it and email it to you. Just PM me so I don't forget!

I would try to get his doctor to write a dx of Celiac in his medical charts if he responds to the diet, so you can use this for tax puposes. If your doctor is forward thinking, this shouldn't be a problem. In a child so young, it is not uncommon for a test to be falsely negative.

Let us know how he feels and good luck!