Need Advice On Diagnosis

[KatKline]

Hello, my name is Kathryne Kline and I am 25 years old. I could really use advice from people who have celiac disease!

I've dealt with stomach issues my whole life. Stomach pain, constipation, diarrhea, then constipated again, then diarrhea. vomiting sometimes when it was really bad, bloating, hair loss, fatigue, trouble concentrating, depression and so on.

 

In 2012 I got really really sick. I was in so much pain, couldn't eat, diarrhea, bloating, severe chills, violently shivering, I felt like I was dying. My abdomen was so swollen, the doctor said he couldn't feel my organs and sent me to the ER. They said it was a bacterial infection. They gave me nothing for it and sent me home. After that I began to get rashes on my face, neck, chest, and arms after I would eat certain things or drink certain beers. It got so bad that I would get these rashes as well as migraines, foggy headed, diarrhea, nausea, vomiting, after eating certain things. I would also get so unbelievably tired that I could no longer stay awake. I would then pass out for 2 or more hours. I would wake up feeling so tired and so hungry specially hungry for sweets. The rashes would go away after a few hours. Sometimes they'd go away quickly sometimes they would not. It literally felt like a allergic reaction. This continued from 2012 until I stopped eating gluten as of late. Three months ago I got really sick again. This time they said it was the stomach flu. I was so sick and nauseous I could not eat ANYTHING without feeling so unwell and nauseous and had no appetite. I lost 16 pounds in 2 months. I had to go on a liquid diet for 4 weeks because my stomach could not handle food. I was so sick and so depressed. What was wrong with me? I continued to ask myself. I thought I was dying. This was the last straw. I couldn't continue to live like this. So I decided to go to the Mayo clinic. 

 

I have been going to the Mayo Clinic to see if I have celiac disease. It has been a long and arduous journey. I had an endoscopy where they took 16 biopsies and they found villous atrophy in my small intestines. They tested me and found that I do indeed have the celiac gene, but they did all these tests backwards. They did the endoscopy first and as soon as they suspected that it could be gluten causing my severe pain and the villous atrophy, I stopped eating it. But then I took the antibody blood test last week and the antibodies came back negative. I strongly think this is because I was off gluten. My doctor had this to say,

 

"We think it would be reasonable for her to continue avoiding gluten, as her reaction to it may be too 

troublesome for her to undergo a gluten challenge. In addition to gluten avoidance, I think it would be reasonable to check baseline vitamins A, D, E, and B12 as well as serum ferritin, copper, zinc."

 

I have yet to check my vitamins A, D, E, and B12 as well as serum ferritin, copper, zinc but intend to do so as soon as I can. 

 *Side note I was also diagnosed with Pelvic Floor Dysfunction 

 

I feel so much better off of gluten. I'm still in pain and I'm still on the road to recovery but it's amazing how much better I feel. 

 

My question then is, where do I go from here? I obviously need to continue to avoid gluten but I was really hoping for a definite answer... Yes you have celiac disease or no you don't. I just don't want to feel crazy anymore like I was making this all up. (some doctors believed I was... why would I make all this up??) But my body just can't handle gluten so I don't think I could and or want to do the gluten challenge... And I know my doctor won't and can't give me a straight answer because of the negative antibodies. So do I tell people I have celiac disease? As I strongly believe I do given my past history, all my symptoms, the villous atrophy, and having the celiac gene or do I just say I have a gluten intolerance? 

 

Any advice would be so very much appreciated! Thank you for taking the time to read this

[SMRI]

How long had you been off gluten when you had your bloodwork done?  I'm surprised they did not tell you to continue to eat gluten until that test was done. Did you tell your dr that you were gluten-free when they performed the bloodwork?  Are you going to Mayo in Rochester?  Do you see Dr. Murray or someone else?  I would say that you have Celiac based on your endoscope and diet changes.  I think that what your dr is saying is they believe you have Celiac and don't want to put you through the trouble to do the gluten challenge so they are just going to go with that.

[Teresa Anderson]

Hello,  I understand your frustraton - I have walked through unanswered questions ... and still do!  I think the best thing to remember is to be your own advocate.  Celiac has so many different symptoms and it can touch so many parts of your body.  I would - nicely - demand - a blood test for all your vitamins/minerals/iron etc.   I am surprised the doctors have not done that! ... well .. not really ... my family doc had told me that my B12, Calcium, Vitamins would all be fine ... and I was too young for bone issues!  My GI doctor disagreed (as I had undiagnosed Celiac for many many years!).  I had to really push for these tests with my family physician ... It turned out that I was low in everything (one example is my Ferratin was 5!) ... and I have Osteopenia.  These are good things to know ... I can't change Osteopenia ... but I CAN make sure I increase my calcium and walk and do weights to try to keep my bones strong!  I really don't want to grow into a very brittle older lady!  

 

My understanding - is that if you have the biopsy - that it confirms celiac?  So ... I would question this to your doctor ... or do they need the blood test and the biopsy?  As for your question about blood test ... even though gluten makes you sick .. .in my option ... I would eat it!  I would eat it for a month or whatever your doctor says ... and then go for the blood test.  Good for your mind to have certainty!  It is not fun to be sick ... but isn't it better to know then question?  

 

It is hard to know where to start in the Gluten Free Lifestyle ... where to look for cross contamination ... what flours to make/buy.  

[KatKline]

How long had you been off gluten when you had your bloodwork done?  I'm surprised they did not tell you to continue to eat gluten until that test was done. Did you tell your dr that you were gluten-free when they performed the bloodwork?  Are you going to Mayo in Rochester?  Do you see Dr. Murray or someone else?  I would say that you have Celiac based on your endoscope and diet changes.  I think that what your dr is saying is they believe you have Celiac and don't want to put you through the trouble to do the gluten challenge so they are just going to go with that.

I had been off of gluten for 3 weeks or more. I know I'm surprised they didn't say anything either and I didn't know not eating it was going to be a big deal. I was so eager to feel better I was willing to try anything and quickly! I did tell my doctor that I was gluten free and he said there could be a chance of a false negative because of it. I am indeed going to Mayo in rochester and I see Dr. Tibbian and Dr. Nehra who is the head of the celiac department there. Thank you so much for your feedback! I need all that I can get! lol It's hard to get a straight answer and or even get a hold of my doctor. So if I have questions I'm left to my own devices so this forum is a god sent. I'm just so confused because they're like yes we're pretty sure you have it then they're like well it may just be a gluten intolerance and a small chance of having celaic disease because of the negative antibodies so perhaps a gluten challenge, but we don't think that's safe so never mind. lol I'm left like... aaaah okay? lol I know they can't give me a 'yes' or 'no' because of the negative antibodies but they want to go ahead with all the tests that they would do if I DID have celiac disease. I guess I just want to be able to label myself as "celiac" or "gluten intolerant" so that I can sleep better at night knowing what exactly is wrong with me and so I can tell people who have been worried about my health as well that I finally have an answer.

[roomorganizing]

Kathryne, your dilemma made me think of this thread:   

 

https://www.celiac.com/gluten-free/blog/1038/entry-1886-celiac-disease-now/

 

I've read on this forum and through other research that villous atrophy can be caused by other culprits, but with the symptoms you experience I would want to totally rule out the most obvious thing (gluten) first before moving on. I share your pain in getting a definitive diagnosis. You are young and having that knowledge could be very important for any potential future ailments, and certainly if you have or decide to have children. Be your own advocate, read all that you can, and insist on getting answers.....even if that means doing a gluten challenge . From what I understand, you are working with a very knowledgeable organization. Maybe it's not out of the question that your doc would give you that diagnosis if you asked specifically? I have been under the impression that villous atrophy means celiac, especially since blood testing can be so touchy. I know there are others here who have much more experience and can address this better. Hang in there kiddo!

[greytmom]

I thought that even with negative blood tests, the gold standard was the biopsy?

[cyclinglady]

I thought that even with negative blood tests, the gold standard was the biopsy?

Other things can cause villi damage like drugs or milk.

[edgymama]

Oh you poor thing! My symptoms have all been pretty much the same! I too have always had "sensitive skin" and have gotten itchy bumps that come and go especially along my jaw line (not acne definitely a rash) and lately have noticed this on elbows and have had a couple incidents on my hands and fingers. I of course was diagnosed with IBS due to my rotating C and D. I am currently on gluten (and stomach is a mess! The tiredness is also HUGE and my husband is always annoyed by how much sleep I require). I get blood tests end of this month and then will decide from there I guess on the endoscopy. Was it horrible? 

Good luck on your journey! 

[nvsmom]

Dr Fasano, one of the leading researchers in celiac disease, states that for a celiac disease diagnosis you should meet 4 of the 5 following criteria:

1. typical symptoms of celiac disease
2. positivity of serum celiac disease immunoglobulin, A class autoantibodies at high titer
3. human leukocyte antigen (HLA)-DQ2 or DQ8 genotypes
4. celiac enteropathy at the small bowel biopsy
5. positive response to the gluten-free diet

 

Open Original Shared Link

 

You meet criteria 1,3,4, and 5.  That's celiac disease, even if a doctor won't state that it definitely is (because he's covering his own... um, backside.

 

It really isn't that unusual to have negative tests, especially after going gluten-free. Those tests can easily miss people, and for some reason they just don't work on everyone.  My guess is though, that if you continued to eat gluten, and made yourself really, really sick over months and years, that your tests would be positive eventually.... But you really don't want to, or need to, go there.  

 

You've met the diagnostic criteria. It is time to settle into the gluten-free life, check your nutrients and bones, and get your family to get tested.  

 

Welcome to the board.