Possible Misdiagnosis?

[ChristineSelhi]

Hi! I discovered my gluten intolerance through an elimination diet years ago after a frustrating round with a dermatologist and a primary care physician who thought the break out on my face was anything from herpes to a bacterial infection. I put the brakes on when the dermatologist wanted to put me on antibiotics for 6 months (!). I was convinced of an allergy, and decided to try the diet. Lo and behold the rash disappeared after two weeks, and returned only with the re-introduction of wheat. I had a whole slew of other symptoms over the years that pointed to gluten intolerance--IBS, chronic sinus infections, ovarian cysts, vitamin D deficiency.

I then sought medical attention at a Celiac Specialist up at Columbia Medical about 5 years ago. A doctor took a biopsy from my stomach (not my intestines) and did a DNA test to rule out celiac disease. Still I met with a nutritionist and reviewed diet plans and was on and off gluten for 5 years. Most recently I have been gluten free for about a year. Except for a few unexpected slips (mostly generic medication mishaps--DON'T TAKE THERAFLU!!!!)

Recently I have been getting very ill from trace amounts of gluten (such as those in generic medications, or theraflu) and it seems my symptoms have gotten worse--extreme fatigue, very bad headaches, stomach aches a few hours after ingestions, and dizziness, and as always the rash around my mouth.

I was told by this doctor years ago that they could rule our celiac because I didn't have a particular strain of DNA that all folks with Celiac have. I suspect though that this is more than an intolerance. A couple people I know who are gluten intolerant tell me they think I am a celiac, because my sensitivity is so debilitating. Does anyone know if, despite this DNA test, it is still possible to have celiac disease?

Maybe it doesn't matter, but I would like to know, and there is no way I am willing to re-introduce gluten to get the biopsy done. I think that would do more harm than good.

Thanks for any responses!!

ChristineSelhi

[Lovemy4babies]

Hi! I discovered my gluten intolerance through an elimination diet years ago after a frustrating round with a dermatologist and a primary care physician who thought the break out on my face was anything from herpes to a bacterial infection. I put the brakes on when the dermatologist wanted to put me on antibiotics for 6 months (!). I was convinced of an allergy, and decided to try the diet. Lo and behold the rash disappeared after two weeks, and returned only with the re-introduction of wheat. I had a whole slew of other symptoms over the years that pointed to gluten intolerance--IBS, chronic sinus infections, ovarian cysts, vitamin D deficiency.

I then sought medical attention at a Celiac Specialist up at Columbia Medical about 5 years ago. A doctor took a biopsy from my stomach (not my intestines) and did a DNA test to rule out celiac disease. Still I met with a nutritionist and reviewed diet plans and was on and off gluten for 5 years. Most recently I have been gluten free for about a year. Except for a few unexpected slips (mostly generic medication mishaps--DON'T TAKE THERAFLU!!!!)

Recently I have been getting very ill from trace amounts of gluten (such as those in generic medications, or theraflu) and it seems my symptoms have gotten worse--extreme fatigue, very bad headaches, stomach aches a few hours after ingestions, and dizziness, and as always the rash around my mouth.

I was told by this doctor years ago that they could rule our celiac because I didn't have a particular strain of DNA that all folks with Celiac have. I suspect though that this is more than an intolerance. A couple people I know who are gluten intolerant tell me they think I am a celiac, because my sensitivity is so debilitating. Does anyone know if, despite this DNA test, it is still possible to have celiac disease?

Maybe it doesn't matter, but I would like to know, and there is no way I am willing to re-introduce gluten to get the biopsy done. I think that would do more harm than good.

Thanks for any responses!!

ChristineSelhi

I dont know much about your case, or dna testing for that, but Ill tell ya one thing Doctors dont know everything. They are not all knowing, and the medical feild is every changing. With that, I would say yes, you can have celiacs and not have the gene.

My son has had every weird syptom a 2 year old could have. And doctors dont know why. They just dont know everything.

[leadmeastray88]

DNA testing is not diagnostic. It is only useful in seeing if you have the "appropriate" genes and if it could be possible for you to develop the disease. It doesn't mean you will, and it doesn't mean you won't. The problem is that not all diagnosed Celiacs have these "recognized" genes and/or the US/Canada don't recognize as many Celiac genes as other countries do. I'm no expert on genetic testing, but you obviously have a problem with gluten. Have you ever had the bloodwork done?

[ChristineSelhi]

DNA testing is not diagnostic. It is only useful in seeing if you have the "appropriate" genes and if it could be possible for you to develop the disease. It doesn't mean you will, and it doesn't mean you won't. The problem is that not all diagnosed Celiacs have these "recognized" genes and/or the US/Canada don't recognize as many Celiac genes as other countries do. I'm no expert on genetic testing, but you obviously have a problem with gluten. Have you ever had the bloodwork done?

Hi Kim,

Thanks so much for your response. I never did do the bloodwork, because by the time I saw the doctor, I had cut off my gluten intake. I have heard of people still having the antibodies after they went gluten free.

I guess in one sense it doesn't really matter, it's just one likes to know what the real problem is, you know! Also, in a way, it would be easier to just tell people that I am a celiac, and then they take me seriously. Working through it with the family can be tough.

Anyway, I will talk to my physician about doing the bloodwork.

Regardless, I have gotten much more serious about making sure gluten is not in anything that comes near me. I just can't go losing whole sick days because of a lazy moment!

Appreciate your input very much. That helps me to understand. I was so new to the celiac world, I didn't know what questions to ask 5 years ago, and I have had so many people say to me recently are you SURE you're not a celiac that I have sort begun to wonder myself.

Thanks again!

[ChristineSelhi]

I dont know much about your case, or dna testing for that, but Ill tell ya one thing Doctors dont know everything. They are not all knowing, and the medical feild is every changing. With that, I would say yes, you can have celiacs and not have the gene.

My son has had every weird syptom a 2 year old could have. And doctors dont know why. They just dont know everything.

Yeah, they are frustrating sometimes. I have a new one who seems pretty good, but I have been not eating gluten for so long and feeling so good, I didn't think to bring it up with her....a little daft of me I guess, but oh well. I will talk to her about it, but as I said to Kim, the official diagnosis would be nice, to help me to explain it to friends and family who sometimes think I exaggerate. But, maybe I'll just use the word to help them understand Thankfully, I have a very supportive husband who sees it all, and helps me at restaurants and with dinner parties. He's practically gluten free by default. Thanks, best of luck with your son. I can imagine it must be so hard with the little ones!

[ang1e0251]

Post your DNA test results here. There are those who are well versed in genetics and could give you more info than might have been available at the time.

[ChristineSelhi]

Post your DNA test results here. There are those who are well versed in genetics and could give you more info than might have been available at the time.

Sadly, I was far a less responsible patient back then and have moved a couple of times. I will try and hunt them down, and see what I can find! I still have the number for the Rx though, I will see if I can get a copy.

[happygirl]

While most 95%+ have the two recognized genes associated with Celiac (HLA DQ2 & HLA DQ8), not every single Celiac has one of the genes.

Also, you can have just as debilitating symptoms with non-Celiac gluten intolerance as someone with Celiac - or, for some, those with ncgi have more symptoms than Celiac.

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On a day to day basis, treatment is the same - the gluten-free diet.