My Son's Tests Are Back

[Guest Chrisbee]

Even the gene tests showed that he does not have the celiac genes. The gastro said I could go ahead with the endoscopy and sigmoidoscopy, but I don't want to put him through that because it will probably be negative for celiac too, considering we have been gluten free since March. I chose to keep him on the diet and take him back in October for another check-up.

His symtoms have been freqent diarrhea and stomach aches, but worse than that are the non GI symptoms. He had dry itchy skin, blisters and sores on lips in mouth, blistery itchy rashes, blisters and peeling skin on hands and feet, frequent infections (colds, stomach viruses, fevers), bad enamel on teeth (decay started at 9 mths of age), crying with pain in muscles and joints several nights a week, fatigue and allergies. Almost all of the symptoms got better on a gluten free diet. The only thing I'm unsure about it whether his enamel will get stronger, but everything else has drastically improved. He even gained seven pounds, but he is still skinny as a rail. I was so sure he had celiac, that I made his 22yo sister who has symtpoms get tested. She tested negative on the blood tests, but sure enough, had a positive biopsy last week. She didn't have a gene test.

I thought he would have to have the endoscopy, so I let him have a soft pretzel last week and some beef sticks a couple of days ago. The gastro said one meal would be enough to set off the changes he was looking for with an endoscopy and I thought if we were going to do it, we might as well let him have some gluten so it would show something. He has whined and cried non-stop for the last three days over the least little things, his skin is itchy, and he was up crying with leg aches last night. I wish I wouldn't have let him have the wheat, because now he's miserable, and I feel like a terrible mom.

In a way, I'm relieved, because it won't be on his medical chart that he's celiac, so it won't affect his insurance later in life. But in another way, I'm frustrated, because I'm not SURE that he has celiac, only that he does respond to the diet. I hope there's not something else going on that we're missing.

Do any of you have kids that tested negative but still respond to the diet? Maybe gluten is just some really bad stuff?

[aikiducky]

Well, his sister also tested negative on bloods but positive with biopsy, so that could be something that runs in the family so to say. The two main genes that are usually tested for account for maximum 95% of cases, so that still leaves a chance that he could have classic celiac even without the main genes. So you don't need to feel that celiac is completely ruled out. Bottom line is the response to the diet though.

Pauliina

[Guest Chrisbee]

Well, his sister also tested negative on bloods but positive with biopsy, so that could be something that runs in the family so to say. The two main genes that are usually tested for account for maximum 95% of cases, so that still leaves a chance that he could have classic celiac even without the main genes. So you don't need to feel that celiac is completely ruled out. Bottom line is the response to the diet though.

Pauliina

I didn't realize that 5% of celiacs don't have the gene. The nurse said that he could still have it, because there could have been a problem with the test, but at this point, I didn't want to put him through the endoscopy. He's only six, and he's perfectly happy on the diet for now. If he questions it in the future, I will put him on a gluten challenge and do the biopsy.

The nurse called my cell phone, which has terrible reception, and I could barely understand her. And the baby was fussing. I wish I would have asked if she could mail me a copy of the results. They will probably send a copy to our family practioner though, and I could get a copy from him.

I wonder what I can do about school. Even though I send all his food, they wanted a note from a doctor stating that he needed to be gluten free.

Christi

[ravenwoodglass]

Not all celiacs show up in blood work and some will show with numbers so low that the doctors call it negative anyway. You need to try him on the diet strictly for a couple of months and then if needed do a short gluten challenge (until symptoms return not weeks!) to be sure if there is still doubt. With a biopsy confirmed sister with a negative serum level I would go for the diet for a bit. Chances are really good he has it also.

[holiday16]

If it helps at all I had the blood test done 4 years ago and at the time it was negative. However, after testing with Enterolab and getting a positive from them I have been gluten free since Nov. with amazing results. I'm no longer tired all the time, my muscles don't hurt nearly so much as they used to, my mind functions so much better, I don't shake all the time anymore, my coordination is better (I was having trouble writing and picking things up like coins) and I could go on and on. I was sick pretty much all the time for the last 8 years and if I have gluten it all comes back. When I'm off it I'm fine.

It is frustrating not to have a positive result with standard tests in part because you want to test family members, but you don't feel secure that a negative result is really conclusive. In our family it seems to be mostly neurological so I've been looking things up along that line and found a couple things that you may find interesting:

Open Original Shared Link

Open Original Shared Link

Also, they did find that the DQ7 gene can act like a the DQ8 celiac gene. I wish I had the links, but I'm not sure where I read it. Some gene tests only say if you're positive for the 2 or 8 and don't tell which genes you do carry.

All I've been able to conlude is that more research needs to be done and there are areas dealing with gluten that are just not fully understood yet. I know I react, but the only tests that came back odd were my vitamin D levels were low. Not sure if it was malabsorption or just the fact that I spent so much time indoors because I was sick for so long!

I do know that my daughter reacts as well with mostly GI issues and we have her off gluten. She forgot and ate a twinkie at school one day and by the next day she was doubled over in pain and cried herself to sleep it hurt so much. This past school year her teacher was really great as was the school. One day she forgot her lunch and could not get hold of me, but finally contacted my husband who worked with them on finding her something she would be able to eat (which turned out to be a salad with some meat). The secretary lent her money which they really aren't supposed to do, but I'm greatful she did! I would highly suggest sitting down with the school and talking with them. If they understand the situation they may be more willing to work with you because I child reacting to gluten is not fun to deal with!

You could also try talking with your Dr. and explain the sitation that you understand you don't have a definite diagnosis, but you need a note for school saying he can't eat gluten. They can accomodate that even without a firm diagnosis. If your Dr. won't you need to find someone more understanding that will help!

[EBsMom]

But in another way, I'm frustrated, because I'm not SURE that he has celiac, only that he does respond to the diet. I hope there's not something else going on that we're missing.

I hear you! That's exactly what we're struggling with right now. My f-i-l (who was an NIH scientist before he retired) is pushing us to get an official diagnosis for my dd. He's very uncomfortable with our "self-diagnosis." His argument was exactly what you wrote - that there could be "something else going on that we're missing." I've been racking my brains, and reading up a storm, and I just can't come up with anything else that my dd could have that would, a) respond to the diet so well, and not cause other symptoms to arise. If anyone has any other ideas of what "something else" could be (not Crohns or Lyme - I've checked out those diseases extensively) I'd love to hear your ideas!

Chrisbee, I think that in the end, we have to begin with what we see in front of us - how well our children are responding to a gluten-free (and cf, in our case) diet....and then address any further issues as they come up. I don't think that very many of us get a diagnosis as a neatly-wrapped package.

Rho