Need Advice; Should We Retest

[linda-r]

My 14 year old daughter has had chronic mild to moderate abdominal pain since she first stated "my tummy hurts" at the age of 4. She was diagnosed with acid reflux at 10, but continues with chronic pain despite treatment. She has repeatedly tested negative for H. pylori. She has also tested negative for Giardia, food allergies, Chron's and celiac Ab. At that time we discovered she is IgA deficient. Her intestinal biopsy was negative for celiac, but inflammation was noted on the gastric biopsy. She has many of the symptoms of celiac such as enamel defects, occasional tingling in her arms or legs, off and on rash, and sometimes odd stools. She also has had a few episodes of Raynaud-like loss of circulation in her hands when it is cold.

Should I insist on testing for the genetic markers for celiac as well as the IgG ab test that may be needed for those who are IgA deficient? If she is positive for the genetic marker but is Ab negative, should she try a gluten free diet? If she is an undiagnosed celiac, I am worried about the damage to her body and also of bringing on other autoimmune disease if left untreated. Note: her pediatrician thinks it can't be celiac because her symptoms are not severe enough. She is slender but looks healthy. She has asked to return to a GI doctor because she senses something is wrong.

I am new to this forum. Any feedback you can provide would be greatly appreciated.

[shanmcg5]

Hi! I'm new to this whole Celiac thing too...and it's not even me who has it! I have done most of the reasearch and asked all the questions on behalf of my fabulous, yet sick, boyfriend. He is 30 years old but has felt a "thunderstorm in his stomach" since age 10. No test has come back positive and has been told he has IBS, although he has all the signs of Celiac Disease (gut aches, rash, tingling, low weight...on and on). He also was diagnosed with severe acid reflux as a child and actually had surgery to correct this when he was 20 years old. All that being said, he's decided to self-diagnose himself and try a gluten-free diet. At some point, "gut" instinct is better than a clinical diagnosis.

[linda-r]

Thanks for the reply. Your friend sure has similar symptoms. I am thinking that the main purpose of the genetic marker is to rule out celiac. I think we might try the gluten free diet even if more testing is not done.

[OptimisticMom42]

How does your daughter feel about going gluten free?

[linda-r]

She is willing to do what it takes to feel better. The lack of definitive answers about why she feels lousy is scary for her. Also, she has already eliminated some sources of gluten because those foods make her ill, such as spaghetti. She eats a lot of fruit and vegetables, but they don't give her enough calories.

[ravenwoodglass]

Thanks for the reply. Your friend sure has similar symptoms. I am thinking that the main purpose of the genetic marker is to rule out celiac. I think we might try the gluten free diet even if more testing is not done.

Just a quick note on the gene tests. In the US they generally only check for 2 out of the 9 celiac related genes. Usually celiacs will carry DQ2 or DQ8 but there are other genes that are also related. It is up to you whether you want to continue with more testing or just give the diet a good strict try. If you plan on more testing, blood or repeat biopsy then it is very important that she remain on gluten until the tests are done. How many biopsies did they take with the last endo? Hopefully it was multiple ones in multiple areas but even then sometimes the biopsies are a false negative for a variety of reasons. No matter what the test results do give the diet a good try, sometimes the body can give answers that the tests cannot.

[OptimisticMom42]

Since she's willing now while school is out for the summer would be a good time to try it out and see what happens. Ultimately she is going to decide wether to stick with it or not regardless of what the dr's say.

[linda-r]

I have pretty much decided to try the gluten free diet regardless whether we do more blood tests or not. I am not going to put her through another endoscopy. She has a followup appointment today at GI clinic at the children's hospital. I have held off the diet change until after the appointment in case it is decided to pursue more testing. I am not sure if it will be more difficult to adhere strictly to the diet without a diagnosis, but we are going to try. She is motivated to find a way to feel better.

I was not aware the genetic testing was so complex. Would a negative test of the markers done in the US rule out celiac?

[OptimisticMom42]

Adherance to the diet shouldn't be a problem. My son and I found that the less gluten we ingested (I never ingested it on purpose, he did) the stronger our reactions were to the gluten we did ingest. You'll want to do the elimination diet and a food log - what she ate/when/how much - and how she's feeling. It's just like when you started her on solids as an infant. Start with a menu of simple foods. Add a new food, take it out, bring it back. If she reacts badly to it, leave it out. It's not as hard or complicated as it sounds and because she is old enough to tell you how she's feeling you can add a new food every three days or so. Also if something doesn't work for her research the plant family. I'm allergic to everything in the celery family.

[ravenwoodglass]

I was not aware the genetic testing was so complex. Would a negative test of the markers done in the US rule out celiac?

No. My family is a prime example of that. My DD went off the diet when she went to college. She was diagnosed by both positive blood and biopsy. She went to another doctor in the city she went to college in and got retested after being gluten free a couple of years. She had healed so her biopsy was of course negative and when they did the gene test she was told she couldn't be celiac because she didn't have one of those two genes. That prompted me to get my genes tested. I am definately celiac with autoimmune and brain impact along with gut problems from gluten. Guess what I don't have either of those two genes either. The genes I have would have diagnosed me with RA if they had tested them before diagnosis and I would likely be dead or in a wheelchair by now. Genetic testing is a tool but not an absolute for sure that you do or do not have it.

[ravenwoodglass]

Adherance to the diet shouldn't be a problem. My son and I found that the less gluten we ingested (I never ingested it on purpose, he did) the stronger our reactions were to the gluten we did ingest. You'll want to do the elimination diet and a food log - what she ate/when/how much - and how she's feeling. It's just like when you started her on solids as an infant. Start with a menu of simple foods. Add a new food, take it out, bring it back. If she reacts badly to it, leave it out. It's not as hard or complicated as it sounds and because she is old enough to tell you how she's feeling you can add a new food every three days or so. Also if something doesn't work for her research the plant family. I'm allergic to everything in the celery family.

This is good advice. The only thing I would add to it is to introduce the new food for a week. With food intolerances it can take up to a week to react, some will react sooner of course. My allergist was the doctor who initially pinpointed the celiac, I am one of the lucky ones who don't show up in blood work. He did it through an elimination diet where I started with 5 foods then added in one new food a week. It wasn't until after the 3rd day that I reacted when I added gluten back in. If I had been adding a new food every three days I would have thought it was the next food I added that I reacted to not the gluten.

[linda-r]

Thank you for your feedback. I will have to get more info about elimination diet. We are off to the dr. now! Sounds like the gene test is not an absolute answer.

[ravenwoodglass]

Thank you for your feedback. I will have to get more info about elimination diet. We are off to the dr. now! Sounds like the gene test is not an absolute answer.

You might want to consider seeing an allergist who will help with the elimination diet. Not all will so ask before you make the appointment. Mine literally saved my life.

[linda-r]

Her doctor ordered genetic and serologic testing for celiac. If they are negative, we will still give a gluten free diet a try for a couple months. It also would be interesting to contact an allergist about elimination diets.