Desperate for a diagnosis?

[Cmariah]

Hi all
I want to extend my sincere thanks to anyone who reads this post, and especially to those who provide answers & support.

I want to begin by saying how complicated my story is, although I'll do my best to simplify & shorten everything to keep your attention.

One of my most severe & pervasive symptoms is actually also my very first. Since early childhood (I am now 25) I have had recurrent, painful mouth ulcers. As time has passed they have become increasingly worse - since April of this year I have been plagued by constant ulceration in my mouth.. by the time one is tapering off after two weeks, a new one is forming. At their worst I've had several in my mouth at once. Eating has understandably become nearly impossible & with these ulcers in addition to my intestinal issues, my diet is as skinny as I am.

My intestinal issues first reared their ugly head during the summer of 2016 & have worsened over time. I was diagnosed by my first GI doctor with GERD and placed on Omeprazole that year. By my follow up early the next year I was having increasing abdominal pain/bloating/cramping, diarrhea, blood in my stool, inability to eat certain foods - you name it. First endoscopy in March of 2017 was clean but with evidence of gastritis. In May of that year I had my first colonoscopy, which was clean & had negative biopsies for microscopic colitis. I was passed to another GI doctor, who did nothing for me. I went back to my original GI who did the PillCam - negative again. August of 2017 I was diagnosed with IBS-D. Due to this diagnosis I didn't agree with, by personal choice I visited another GI doctor who believed my issues were due to a lactose malabsorption. HA! In February of this year I visited a new GI doctor, whom I actually like and respect. He's done a plethora of blood tests - negative for all autoimmune diseases of the Lupus type. I had a breath test done for SIBO (Small Intestinal Bacterial Overgrowth), which was again, negative.

Two days ago I had my second upper endoscopy & colonoscopy in which (much to my disappointment- it's unfortunate I feel this way by now) everything looked "normal." I am awaiting biopsy results now & have a follow up scheduled for later this week with my doctor.

Can anyone tell me... how long did it take you to get a diagnosis? Did you have to repeat tests such as I have had to?

I am BEYOND desperate and exhausted mentally and physically. OF COURSE I don't want anything to be wrong with me, but I KNOW something is. I am tired of going to the bathroom. I am in constant pain. Every.Single.Time I eat my stomach BURNS like it is on fire, and I become full so quickly. What the H could that be from?!
I can't, under any circumstances, wait to use the bathroom.. If I have to go, I need to find a bathroom quickly. I have hemorrhoids (or what I think are) although I never strain to use the bathroom. It looks like lumps and paper cuts are around my anus (sorry for TMI, but I'm beyond modesty anymore). When I use the bathroom my abdominal pain and cramping, especially lower right abdomen, is so painful it makes me nauseous.

As far as the oral ulcers go - please note I am aware several diseases can cause these & I have been tested for everything. Herpes, even HIV, infections, food allergies, viruses, Bechet's Disease, all negative. GI tells me to see my Rheumatologist, and my Rheum tells me to address them with GI.
I know Crohn's can be present anywhere from the mouth to the anus, so why isn't there such a diagnosis of "oral Crohn's" if they can't explain why else I have these ulcers, and I have EVERY symptom of Crohn's?

I honestly just want to try some form of treatment to see if it alleviates any of my symptoms like I believe it would. Is this too crazy a question to ask my GI?

Has anyone else had clean tests & one day, they didn't? Anyone else have experience with oral ulcers?

Throughout all of my testing, I was found to have Ankylosing Spondylitis. I am HLA-B27 positive through genetic testing. They also found I have two mutations on the NOD2 gene, which I have read is associated with IBD, especially Crohn's. This gene also goes by CARD15, and IBD1. Does anyone have information of this? Anyone else found to have these genetic mutations?

I was also diagnosed with an iron deficiency anemia with an unknown cause. I know menstrual periods can be related to this, and I am a woman, but I have never had anemia in my life & my periods are a short joke when I even have it at all, so I know they are not causing this condition.

I really apologize for making this so lengthly, but I really hope someone can read this through & offer hope & advice.

I thank you in advance.

 

[Maya142]

Hi and welcome (but sorry you have to be here).

I'm sorry to hear how hard it has been to get a diagnosis. I can't tell you very much about oral Crohn's - I don't know if it is possible to have Crohn's just in your mouth, but I can say that you are right in that your symptoms do sound very much like IBD.

I wanted to ask if you have ever had an MRE or abdominal CT? Sometimes they will show things that scopes can't pick up - like transmural inflammation, strictures etc.

Generally, as you know, a colonoscopy is the gold standard for diagnosing Crohn's. That, and an endoscopy and a pill cam. But there is also a double balloon enteroscopy, where they can use a scope to go all the way through the small intestine and see if there is inflammation present there that has been missed by the pillcam.

It's not a commonly done test and it is riskier than a regular colonoscopy, but it is done sometimes. Are you seeing a GI at a university/teaching hospital? Typically you will have more luck at a big university hospital, where they see a lot of cases and do research.

In terms of AS - my husband and both my daughters have it. Do you actually have AS or are you just HLA B27+? You need radiographic sacroiliitis to have a diagnosis of AS. Not everyone who is HLA B27+ has AS, as I'm sure you know.

If you do have AS, you may be aware that about a large proportion of AS patients have subclinical gut inflammation. In some studies, the number is as high as 80%. These patients usually have inflammation without symptoms and sometimes ulcerations without symptoms. In 7-8%, this subclinical gut inflammation becomes full-blown IBD.

My younger daughter has IBD as well as her AS. In her case, the diseases flare independently of each other - usually her AS is flaring and her IBD is quiet (her AS is severe but IBD is relatively mild, thankfully).

She also had iron deficiency anemia without a known cause before she had been diagnosed with IBD. She did not have visible blood in her stools or heavy periods. But her Ferritin was so low she ended up needing iron infusions. At the time, the hematologist we saw said she had to have bled from somewhere to lose that iron, so we assume she had bleeding in her stools that was not visible to the eye.

In terms of other mutations, I know she has some NOD2 mutations but don't really know what that actually means.

I don't really have any great advice on the possible IBD front except perhaps pursuing a double balloon enteroscopy so they can biopsy your small bowel.

But on the AS front - how are you being treated? If you're not on a biologic, I would push to be put on one. Preferably one like Humira or Remicade that also treats IBD. That won't get you a diagnosis but it may help with the mouth ulcers and then that is further proof that the mouth ulcers are related to something inflammatory.

I hope this helps somewhat. Hopefully other members will chime in with more advice.

Hang in there!!

 

[theflightless]

if you've got NOD2 mutations you can have crohn's, and are very likely to. If you don't, you can still have Crohn's, but unusually.

NOD2 and bacterial recognition as therapeutic targets for Crohn’s disease.
de Bruyn M, Vermiere S.

The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease
Cuthbert AP

AS seems to be mechanistically the same as Crohn's, just having an altered phenotype most likely due to bacterial colonization of tissues outside the GI tract.

It is not unusual to have variable disease markers. Flares are when the markers are high, and periods of mild or even full remission punctuate flares, particularly early in the disease course.

Crohn's is not particularly easy to diagnose in a brief time span in part because of how the disease activity is variable.

 

[Jabee]

I think I responded before to your post but it may have been deleted when some posts from the past few months were lost. There are some articles about oral crohn’s and it does sound like that is the way crohn’s is currently manifesting itself in your body. I agree with Maya142 that you need an MRE or at least a capsule endoscopy or double balloon enteroscopy. The largest part of your small intestine (your jejunum and most of your ileum) hasn’t been visualized yet and it needs to be. I’ve attached a link to one of several articles that popped up when I searched for “oral crohn’s”.

https://jamanetwork.com/journals/jamadermatology/fullarticle/477791

 

[Guerrero]

I agree with all have been said
MRE could give an answer about crohns or not... also a non invasive test is the feacal calprotectin, if it comes out highly positive then its very likely you have crohn's even if you need some scan confirmation to get diagnosed.

 

[Aziz]

I'm also need help i did colonscopy before 3 month and they found mild active colitis in colon. And My Gi told me do blood test and faecal Calprotectin. And all come back normal after that i have little cramp next to my belly button but its only very mild. Then i come back to my gi he told me maybe from your celiac disease. I told him i need another colonscopy. And i did it before 2 weeks. And the result with biosby is negative and normal. Very confused.