Genetic Screen Vs Antibodies...to Endoscope Or Not?

[JHmom]

Hi. I am in a confused place and need some of your experiences. My Son was hospitalized twice with vomiting that left him very dehydrated. As the episodes were barely a month apart ( preceeded by other times of vomitting within the 2-3 previous months) they ran a battery of tests which all came back negative. During his last hospital stay, they preformed a celiac panel (we were waiting for approval from insurance prior to the last episode so they did it while he was admitted).The results came back as such: no antibodies to gluten but a category 5 out of 8 on the genetic screen. The options were an endoscopy or to put him on a gluten free diet for a year...and if he had another vomitting episode then we were to rush him to the ER for an EEG to rule out possible seizures. Anyway, the gastroenterologist said that the damamge in the small intestine of those with celiac can be spotty and that if they biopsy him, and the results came back without damage that he could still have it. Is this true?

We have had him gluten free for a month now and though there has been no vomiting, he still had very soft poops, diarrhea at least twice weekly and just doesn't look all that healthy. How long does it take on average to see a difference once a gluten free diet is started. I am starting to wonder if perhaps we should just go ahead and do the biopsy, but am afraid I won't get difinitive results.

ANy one of you have similar experiences with your child/children? I am getting scared that he does not really seem any better, but am confused about the whole genentic thing.

Thank you!!!!

[suziq0805]

Hi. I am in a confused place and need some of your experiences. My Son was hospitalized twice with vomiting that left him very dehydrated. As the episodes were barely a month apart ( preceeded by other times of vomitting within the 2-3 previous months) they ran a battery of tests which all came back negative. During his last hospital stay, they preformed a celiac panel (we were waiting for approval from insurance prior to the last episode so they did it while he was admitted).The results came back as such: no antibodies to gluten but a category 5 out of 8 on the genetic screen. The options were an endoscopy or to put him on a gluten free diet for a year...and if he had another vomitting episode then we were to rush him to the ER for an EEG to rule out possible seizures. Anyway, the gastroenterologist said that the damamge in the small intestine of those with celiac can be spotty and that if they biopsy him, and the results came back without damage that he could still have it. Is this true?

We have had him gluten free for a month now and though there has been no vomiting, he still had very soft poops, diarrhea at least twice weekly and just doesn't look all that healthy. How long does it take on average to see a difference once a gluten free diet is started. I am starting to wonder if perhaps we should just go ahead and do the biopsy, but am afraid I won't get difinitive results.

ANy one of you have similar experiences with your child/children? I am getting scared that he does not really seem any better, but am confused about the whole genentic thing.

Thank you!!!!

How old is your son?? In really young kids bloodwork isn't very accurate from what I have read. And it's not completely accurate anyway. If you doctor is confident that everything else is ruled out you could research a bit on the benefits of a diagnosis. some people notice an improvement by eating gluten-free so never go through the biopsy. Some people need an official diagnosis for school. It also is possible to have non-celiac gluten intolerance. I'm not sure how familiar you are with eating gluten-free, so are you taking precautions to avoid cross-contamination? Sometimes people also need to remove dairy from their diet too. It can take time for the body to heal, but other people may have a better idea as to how long for that. Good luck with your son!

[Skylark]

Your doctor is not explaining the genetics very well to you. There are some genes that predispose people to celiac, but the genetic test is not diagnostic. The only result that is highly associated with celiac is two copies of DQ2.5. It sounds like your doctor didn't give you details? 5 out of 8 seems awfully vague.

It is very true that biopsies sometimes miss the damage, but it's probably still worth getting one. It can be hard to get support at school for kids, and if it comes back positive you won't second-guess yourself. You need to get it done quickly though. Once your son goes gluten-free celiac damage will start to heal.

A week is not long enough to see big changes. It can take a few weeks, or even months if the damage is bad. This is part of why the testing is helpful.

[JHmom]

Thanks for all of your responses...

It has been a month since he has been gluten free, not a week. We have all chosen to go gluten free for less risk of cross contamination and because I do not want him seeing the things he cannot have...it would not be fair. He will be three in August.

I hate to have to put him through the endoscopy, but I think we need difinitive answers. Think I will give a call to the Ped GI and ask for a little more detail.

Thank you for all the help!

[Skylark]

Damn doctors. I guess they didn't bother to tell you that he would never be diagnosed without putting him back onto gluten when they offered you the choice of an endoscopy or gluten-free for a year. Ideally you want the endoscopy on a full gluten diet. The longer he is gluten-free, the smaller the chance of seeing damage because he will be healing. After a few months gluten-free it is not worth bothering because if it's negative you will always wonder whether he simply healed. You can't put him back on gluten and risk another hospitalization, so try to get him in soon for the scope.

[Cara in Boston]

I would not trust a negative biopsy after being gluten-free for a month. My test results (blood) went from postitive to negative in just 10 days. My biopsy (after this brief time gluten-free) was negative too. Since my son was diagnosed and I have a previous positive blood test and I had multiple symptoms, I continued with the gluten-free diet and all my symptoms are gone and if I do eat gluten (by accident) I am sick for several days.

You may still get a positive biopsy (which would be helpful) but a negative one should not rule out the possibility of celiac after being gluten-free for a month. You may be back to square one. And, if the doctor tells you to just give him a regular diet in the couple of weeks before the procedure and it will be fine, don't believe it. You need to be consuming gluten for 3-6 months prior to the procedure to have a chance at getting an accurate result.

The weird thing is, you body can heal very quickly, but it could take months for the actual symptoms to go away. It also takes longer for the damage and antibodies to show up again, once you start back on gluten. The symptoms can return before the disease can be detected.

We wanted a clear diagnosis because our son is in school and has camp and other things in the summer. You have time to get this figured out. You can do a trial gluten-free diet (3-6 months minimum to see a difference) or you can go back on gluten for 3 months and go for the endoscopy. Don't rush into the endoscopy if there is a chance you will just be wasting your time.

It is really hard with young children as they can't always describe how they are feeling. My son is 6 and the only way we know when he has been "glutened" is by his behavior - he never complains that he is not feeling well.

[JHmom]

I am aware of the need to be consuming gluten in order for any of he testing to come back accurately...in fact I was aware once we decided to look in to the testing...I am curious, however, how long before the scope do we need to get him back on gluten for the test to be more accurate. He has been gluten free for almost a month and a half....I called the GIs office today to speak to the nurse and let them know we are interested in the endoscopy. As we are an HMO we have to wait for procedure approval from the network and know that at the very least will take a week...then who knows when they will be able to get him in.

My sons symptoms have never varied and there has never been a time when i can notice triggers...prior to going gluten free he was a little bread, tortilla, cereal etc eating machine. The severe vomitting never happened after anything noticibly different in his diet...and as he has pretty much eaten the same handful of things for the last year and a half, it would be impossible to tell. There has been no more vomitting, but everything else is the same.

Should I start him back on gluten now?

[love2travel]

I was told I must eat the equivalent of 4 pieces of bread a day for 3 months prior to my biopsies. Also, request that LOTS of biopsies be taken (i.e. 8-11, not just 3) for a greater chance of accuracy.

[Skylark]

Should I start him back on gluten now?

Only if you're sure he will be safe eating it. It will give you a more reliable biopsy result but your ER story is really scary.

[sandsurfgirl]

Hi. I am in a confused place and need some of your experiences. My Son was hospitalized twice with vomiting that left him very dehydrated. As the episodes were barely a month apart ( preceeded by other times of vomitting within the 2-3 previous months) they ran a battery of tests which all came back negative. During his last hospital stay, they preformed a celiac panel (we were waiting for approval from insurance prior to the last episode so they did it while he was admitted).The results came back as such: no antibodies to gluten but a category 5 out of 8 on the genetic screen. The options were an endoscopy or to put him on a gluten free diet for a year...and if he had another vomitting episode then we were to rush him to the ER for an EEG to rule out possible seizures. Anyway, the gastroenterologist said that the damamge in the small intestine of those with celiac can be spotty and that if they biopsy him, and the results came back without damage that he could still have it. Is this true?

We have had him gluten free for a month now and though there has been no vomiting, he still had very soft poops, diarrhea at least twice weekly and just doesn't look all that healthy. How long does it take on average to see a difference once a gluten free diet is started. I am starting to wonder if perhaps we should just go ahead and do the biopsy, but am afraid I won't get difinitive results.

ANy one of you have similar experiences with your child/children? I am getting scared that he does not really seem any better, but am confused about the whole genentic thing.

Thank you!!!!

You have found a gem of a GI doctor. That is rare and hard to find. So many of them are clueless and lead people down the wrong path. So many of them say the endoscopy is the gold standard, yet there are tons of people on this board who had a "normal" endoscopy but positive blood tests or the other way around. Or they come up negative on endoscopy but they try the diet and they get better.

Celiac testing just isn't very good or reliable. It amazes me that they only take a few teeny tiny pinches when they do endoscopy. As long as our intestines are, you'd think they would take lots of samples all the way down.

My son had such terrible symptoms. Vomiting so much a friend of mine said she had never known a kid to vomit so often. Awful bouts of diarrhea and bad stomache pain. Lots of bloody noses. Asthma. Behavior issues like losing his temper and meltdowns, anxiety, insomnia. He also wasn't growing like he should. His blood tests were negative at 6 years old. I knew he had celiac so I kept telling him I thought it was gluten when he would get sick. Finally he chose to go gluten free and surprise surprise! ALL of his symptoms went away. And he started growing.

He is no longer on allergy or asthma medicines. His asthma was gone after being gluten free for about 3 months. Nose bleeds gone. Tummy problems gone. Behavior problems gone. He's been gluten free about 10 months now and he is doing great.

We know he has celiac for sure because not only did he do great on the diet, but he accidentally ate a bite size Milky Way at Halloween and had diarrhea for 3 days. People without celiac dont' get that bad of D from getting a minor glutening.

Celiac testing has a long way to go and I applaud your doctor for knowing and admitting that.

[sandsurfgirl]

I am aware of the need to be consuming gluten in order for any of he testing to come back accurately...in fact I was aware once we decided to look in to the testing...I am curious, however, how long before the scope do we need to get him back on gluten for the test to be more accurate. He has been gluten free for almost a month and a half....I called the GIs office today to speak to the nurse and let them know we are interested in the endoscopy. As we are an HMO we have to wait for procedure approval from the network and know that at the very least will take a week...then who knows when they will be able to get him in.

My sons symptoms have never varied and there has never been a time when i can notice triggers...prior to going gluten free he was a little bread, tortilla, cereal etc eating machine. The severe vomitting never happened after anything noticibly different in his diet...and as he has pretty much eaten the same handful of things for the last year and a half, it would be impossible to tell. There has been no more vomitting, but everything else is the same.

Should I start him back on gluten now?

It can take months for problems to resolve. I am not a kid of course, but it was 6 months before I had one symptoms free day. Just ONE day.

Your child is getting better. There hasn't been any vomiting. It is torturous to put him back on gluten if it makes him sick. If he gets sick when he starts eating it again I would seriously consider not doing the endoscopy. Like they said you must be eating a ton of gluten to get a positive result. You must be eating so much gluten that it is destroying your intestine enough that they can see that destruction. Do you really want to do that to your kid?

You have a GI doc willing to accept dietary response as a diagnosis. He admits that the testing is faulty and inaccurate. Dietary response IS a valid diagnostic tool. Non celiacs do not get better on a gluten free diet. Non celiacs don't get sick if they do gluten free and eat gluten again.

If you must do the scope, then put him back on tons of gluten but please, if it makes him sick, don't continue. It is just not worth it.

[ryebaby0]

I would have him biopsied. Yes, it could be falsely negative but that is not the majority of experiences. If he is scoped at a reputable facility that deals with children, truly it will be harder on you than on him. (My son is 17, and was scoped 8 times between 8-15 yrs.) But you can't make medical decision for his future based on general impressions. If something else is wrong (the gluten-free diet doesn't work, for example, to improve his health) he'll need to be scoped ANYWAY, and you've let all that time go by. Personal experience speaking, here!

If you decide on the endoscopy, come back and we'll all give you advice/stories about our experiences.

[mommida]

There are a few things that doing an endoscopy with biopsy can rule out or in that have the same symptoms...

parasites ( can take stool sampling)

congenital defect

hernia

H. Ployri.

Celiac

Eosinophilic Gastro. (Eosinophils are white blood cells that damage host tissues and can be found anywhere in the G.I. track)

The endoscope can also give a baseline for further testing like abdominal migraines and seizure disorder.

Just a disclaimer here this has been learned through experience with my daughter. (So yes I am forgetting a lot of information here. But days of hospitalizations and total "freaking out" during tests and I know the doctor was on a basic track of "parents don't need to know everything, until proper diagnoses"

Like your situation, my daughter was switched to a gluten free diet after being hospitalize for vommiting dehydration. (She did have the Celiac panel drawn and was positve on one art of the panel.) She had the genetic test done and was positive for DQ2 and DQ8. She was diagnosed as "probable Celiac" when she was 17 months old. Life was good on the gluten free diet until she was turnig 6. Then she started just vomitting and "D' and it seemed like she was having gluten symptoms!!!? I was searching for hidden gluten everywhere in everything. She got sick with a virus that was going around and vommitted BLOOD. (By the way, if your child vomits blood, take some of it with you because doctors tend to think you are mistaken. The color of the blood is also important as it can help determine where it might be coming from.) It was like very severe GERD and she would vomit about 5 times a day. Her tonsils were enlarged and had cream colored specks. Her breathe started having a strange smell. She was scoped and diagnosed with Eosinophilic Esophagitus. Her Esophagus had cream colored specks mixed in with enflamed swollen esophagus that was tightening with Schatki rings and furrows. (Looked like a pink puffed up doughnut with speckles ready to burst)

Moral of the story, children heal very quickly and one month gluten free if it is only Celiac should have healed a lot. (some exceptions apply) You are not noticing ENOUGH improvement to be convinced it is Celiac from your own statements. Celiac can be hand and hand with another disorder (there are many correlations and you could play the "which came first the chicken or the egg scenario forever".

You should have been sent for allergy testing (which in our experience was USELESS. Keep a food journal. Note EVERYTHING food, amount, time, BM (with description), vomitting, type of activity during the day and sleep patterns, Mood check, air allergen counts, and any other seeming noteworthy information like location

An EE diagnoses is very frustrating. It is considered a "medical mystery" and doctors say "I just don't know". An elimination diet to determine "food triggers"can be the most important medical help you can do for your child.