Positive Ttg And Genetic Testing .. Diagnosis Refused

[GiveMeASecond]

I am at wits end. 

 

I cannot tell you how many times I have written and rewritten ALL my ailments and story for my first topic post... just in the end to be embarrassed by it and delete it all. 

 

My story is LONG and complicated.. unfortunately, I have seen a lot of that on these forums... dabbled with misdiagnosis and down right Lawsuit-able Malpractice. Yup, me too. My symptoms are easy... did you see that long list? Yup I have almost every single one of them and a HOST of others that aren't even on it. In fact, when I didn't know what was wrong with me.. I thought I was on my death bed and doctors gave up, shrugging their shoulders and passing me on the the next specialist.. perhaps everyone can get a piece of the coinage before I kicked the bucket? 

 

I was diagnosed with Hypophosphatemia Rickets (Vit-D Deficient, brittle-bone disease) as a toddler... I am short, never made it to 5 foot. I lived in joint pain my entire life (until recently going gluten free and running for the first time in my life!) My thyroid was always monitored as well as my Vit D, calcium, phosphates, hormones.. blah blah blah. 

 

Constipation was a childhood nightmare. It was blamed on the medicines they game me. Hydrocholorthyizide, Rocaltrol and K-Phophate ... as well as my extreme exhaustion throughout my life. 

Hair-loss was blamed for the "ponytails" that I never wore because the very skin on my scalp often felt bruised. 

Soft enamel on my teeth was blamed on the Rickets, as well as the debilitating joint pain, swelling, throbbing, knife-like.. 

Because of my many (I'll save you the list) symptoms, I decided as a teenager that the doctors were wrong and I had something else.. so I quit taking my meds. I found out the exhaustion and everything blamed on my meds, stayed with me... minus feeling ill.. later I found out I am allergic to Sulfites! 

 

I had lost a child to birth defects, one child diagnosed with Aspergers, and the other with a Language disorder and lots of skin issues and food issues! Both had extreme cases of eczema as babies. Both with bad Colic.

 

While pregnant, I got my first cavity ever.. first 12 cavities ever. My teeth went to crap... blamed on the sugar and candy I don't eat because it makes me ill. Also, my joints became to painful to even walk and I had become wheel chair bound.

 

I'm going to skip a lot here.. but you should be understanding me.

 

Fast forward to last year. I got rocked by a terrible tragedy. I stopped eating for over a week. I drank.. a lot. And when I began to eat again ..that was when the real stomach/health issues began to become scary. I became deathly ill.. my body was not digesting anything at all.. I would eat.. and it would come out in 2 hours... my intestines stopped working completely. No, I did not vomit... it went through my entire system exactly as it went in.. chewed. Gall bladder attacks, polyps in my gall bladder, dangerously high blood pressure, liver enzymes stayed elevated, hemoglobin is high, red blood cells low.

BLISTERS, painful, burning, blisters. it felt like rug burn or a sun burn that popped up all over my shoulders and upper back. Was, at first, diagnosed Stevens-Johnsons disease because it would get worse every time I took an antibiotic. Now they are calling folliculitis. DH tested negative.

My main Doc did a panel for any disease that would cause blisters.. that was when the TTG popped up positive. I was sent to a GI.

 

The GI screwed me. She did the EDG but seems she got SO EXCITED that my esophagus, stomach and duodenal bulb were so torn up in ulcers, she never bothered to actually take a biopsy of my upper intestines for Celiac. She said it would take a month or so get the results.

 

Being that Celiac runs in the family... I went straight to a gluten-free diet and kept a food journal or meds, foods and symptoms. I also started my search for an allergist. 

Fast Forward my month of Gluten Free living.. I called my GI doc relentlessly.. only getting vague answers every week about them not being ABLE to find ANY testing on Celiac. When finally at the end of Month 2 of gluten-free living.. they tell me.. if it's not on here, she didn't test for it. DEVASTATION.

 

I looked for a new GI doc. I found one.  He told me he would look but doubted he would find anything. That was the case. He also confirmed she screwed me and didn't do the test.

 

My allergist helped a lot. I have hypersensitivities to many foods.. and my reactions to them get worse when my body is in, what I call, a "flare-up". 

 

I went back to my doc, feeling defeated. I sorely wanted/needed this diagnosis for me, for my KIDS, for my financial, for my family (who have similar issues and not tested). I gave her a follow up 2 weeks ago, and asked if she would do a genetic test, and asked.. "if I do this, and it's positive, will I get a diagnosis?" She said, "In my book you would."

 

Today.. I have a positive on one of the 8  markers. I don't know which one... and she refuses to give a diagnosis to me. But I figure at this point... all that fighting I have done, all that pain and sickness I have been through... it should be enough for ME to know that I have it. 

 

I guess my story ends here.. and I'll probably be staying in this "pre-Diagnosis" forum as I will never get a diagnosis through real tissue confirmation... as I am 100% certain it will kill me if I tried. I know of nothing else I can do... 

 

If there is one thing I really wanted to do... it's to get that Differential Diagnosis for Rickets in children. That was SO EXCITING to me. I wish I could have helped in that. If you know a Doctor.. let them know my story and point them in my direction. I will be a lab rat for that, any day. Thanks for reading.

 

Comments and suggestion are very welcomed and appreciated.

 

 

 

 

[cyclinglady]

I was diagnosed via blood test and biopsy in March, but my husband's been gluten free for 12 years just based on the advice of my allergist and his GP (PCP).  Does he have celiac?  Who knows?  What we do know is that he feels much better and can tell when he gets accidentally glutened.  He'll never do a challenge because he knows gluten makes him sick!  

 

I hope you feel better soon and if you're going to go gluten free then check out the newbie thread:

 

https://www.celiac.com/forums/topic/91878-newbie-info-101/

 

Welcome!  

[greenbeanie]

I am so sorry you've had to go through that. Your frustration at doctors must be immense, and understandably so!

 

I am also in perpetual limbo with no official diagnosis, and I have been struggling for months to come to terms with that. After decades with dozens of unexplained, worsening problems (I'll spare you the details), I've had more doctors than I can count dismiss my concerns over and over. When I finally learned about celiac and recognized that it fit all my symptoms, I was so relieved to think I'd finally have a diagnosis that would make doctors finally take me seriously - especially the ataxia and neurological symptoms, which were scariest for me. But I'd avoided wheat for so many years (because I knew it made me feel sick even though I had no idea why) that I had to do a gluten challenge before testing, and my results still came back negative. Everything flared up terribly during the challenge, and now the doctors have taken my negative results as proof that it was all in my head from the start. Ironically, they also take the fact that I've had amazing improvements in the last few months gluten-free (including objectively-measurable improvements like a positive ANA turning negative and monocytes falling within the normal range after being high for 15 years) as further evidence that there was never any real problem to start with! Their official conclusion is that I don't have any physical problem with gluten, but I should never eat it again since it seems to cause me so much distress that the worry about it gives me diarrhea and rashes, makes my hair fall out and my tongue swell, causes night sweats, and makes me fall down stairs and smack into doorframes. What kind of diagnosis is that? I know that gluten caused my problems, and that it's not in my head. It's just so hard when no one else believes it.

 

At some point, I know I need to stop being angry at doctors and just be happy that my body is finally healing now that I'm gluten-free. I was very fortunate, at least, to finally find a doctor who agreed to test my daughter for celiac, and she tested positive across the broad and is absolutely thriving since her diagnosis. And after three months gluten-free, I can now go days at a time without tripping over anything!

 

I didn't intend to write such a long-winded reply...My main point is that I'm glad you've found this forum, and I hope that your symptoms improve steadily. If no one will give you an official diagnosis but you know that you feel better gluten-free, that really is the most important thing. (I'm still trying to convince myself of that - I know it's true intellectually but still don't feel that way...)

[tshep]

Wow, I am so so sorry for all of the hardships you are going through, and have gone through in your life! You are so brave to keep at it, and to not give yourself up to an endless list of pills to mask the symptoms, like most doctors would love you to do ($$$).

How have you been feeling since going gluten free?  I think the best thing you can do, is to listen to your body.  My daughter was diagnosed with celiac disease, and given the conversations with the diagnosing doctors, I am absolutely sure that my husband has it as well. In fact, I use him as my marker to know whether there has been any accidental glutening, since my daughter is too young to be aware and let me know.  My husband will never agree to go to the doctors to get tested and diagnosed, but I have enough information to know how to treat him at home.  Of all the health issues, Celiac Disease is, in my opinion, a best case scenario to be hit with, since it is something that doesn't have to be medicated.

So bottom line, probably getting off of gluten is just a healthy move for your family. Though it sounds to me like there are still other issues going on healthwise, I really hope you find some relief going gluten free! Best wishes!

[GiveMeASecond]

Thanks! Yes, I was immensely frustrated, but I am finding it irritatingly amusing. Does that even make sense? That's how I am feeling. 

 

I had started my true Gluten free diet Feb of this year... than purposely tested my body a couple of times to see if I reacted... oh boy did I. Sick and in pain for days.. I needed my husband's help at some points just to get out to bed to pee because the pain was so immense! 

 

Since then I had gone back on my Gluten Free diet, not only RAN for the first time EVER in my life, I ran my first 5K WITH NO PAIN! HA! Imagine that! And to back track, as a child the pain in my joints was so bad, I avoided walking at home... I used to scoot around on my Hiney to avoid the pain. I'd save the walking for school so I could feign normalcy. To make the point clear.. I fully expected and was told by doctors I would be wheelchair bound by 22. I'm 31 in Oct. Running was an untouchable dream. 

 

Also, I find I no longer have mental issues.. the gloom and doom the world is going to end thoughts, and social anxieties. Best of all, there is such thing as this "nothing box" my husband talks about. I found my own "nothing box" in my head. It's quite wonderful really.. I just sit there and I think of absolutely NOTHING! Unbelievable. 

 

My liver enzymes returned to normal and my ulcers went away ON THIER OWN in one month by avoiding gluten and juicing cabbage and other stomach healing  foods. No meds. 

 

I dropped over 35lbs and easily maintain it.. never thought I would get there again... and wouldn't you know I had FINALLY cleaned out that closet! DARN! I'll remind you.. I am the size of a 3rd/4th grader.. so 35 pounds is quite a lot. 

 

The numbness in my arms is gone, and the itchy scalp/skin and blisters calm drastically... but not completely yet. 

I still have sporadic gall bladder attacks, but much more infrequent.. my Doc, who won't diagnose me, called it my "trophy organ". She said I may as well get rid of it.. it's usually the first to go with people who have Celiac. hmmm. 

 

Because the stress is gone I have become much more grounded and happy in life. I can enjoy my family and I LOVE that I found this site and JulesGlutenFree.com and all her recipes. Life saver. 

 

Like you, I am learning that I don't need a doctor to stamp me with a gold metal of approval to know I have it and be happy with that. And I do have other things going on.. Hypersensitivities to food items like rice, lima beans, green beans, onion, garlic, mustard, squash, chicken, .. funny enough that was a joke on me.. I looked at the list the allergist gave me and I saw rice on there.. I said, "Who in the world is allergic to rice!?" as they were doing the test. The lady said, "Apparently you!"

 

But once I am on a gluten-free diet all these sensitivities calm down and darn near disappear. When I get "bit" by gluten I have a flare up.. flushing red skin, severe pain and my body reacts to dang near everything I eat and my digestive system seems to shut down for 72 hours. No movement. It's scary and painful then the onset of the rest of the symptoms. 

 

I love your stories, in the fact that we are not alone in this. I don't mind long-winded anything, so no need to apologize. Thank you for sharing your stories and your time. 

[1desperateladysaved]

Thanks for the encouraging message, Givemeasecond,

 

So glad to hear that you are making improvements after the very sad story!  I don't trust doctors much either and every day I seem to figure out more about how my celiac was missed for 30+years.  I missed telling them key symptoms, and they didn't follow through on several things.  I prefer to see it that this trial was revealed to me when I was ready.  Actually I was ready to do absolutely anything that had hope for healing.

 

D