Crohn's Disease Forum » General IBD Discussion » Desperate for a diagnosis.

12-18-2017, 10:42 AM   #1
Join Date: Dec 2017
Location: NYC, New York
Desperate for a diagnosis.

Hi & first off, thanks sincerely to anyone who reads my story here. I’m going to do my best to keep it as brief as possible, but bear in mind, it is quite lengthily.

For starters, I am a 24 year old female who has been presenting with Crohn’s-like symptoms since 2016. I specify only Crohn’s disease because of one symptom (of which I will discuss later) I am experiencing that kind of removes me from a UC diagnosis in my opinion based off of my research. I can’t remember when everything started, & with brain fog being one of my worst ailments, please do excuse any of the jumbled mess here. If you have any questions, please do not hesitate to ask for clarification!

My first & earliest symptom (and one of the worst) would undoubtedly be mouth ulcers. My first occurred in late elementary school & I still get them today. These are lesions which last anywhere between 10-14+ days, and are absolutely, incredibly debilitatingly painful. I can’t eat, which adds more weight loss to my already petite frame, can’t speak properly, and feel all around miserable. At their worst, I have had somewhere close to six lesions in my mouth at once. I have had them biopsied by my ENT finally this summer & it came back completely benign/negative. Diagnosed with recurrent ulcers with unknown origin & was referred to an immunologist. Immunologist/allergist ran bloodwork, which was normal. I was then referred to an immunologist in NYC, of whom I never went to see. During the summer of 2016 is when I experienced my first bout with GI troubles, unbeknownst to me which would become my new “normal.” My first problems were chalked up to a GERD diagnosis in September of 2016, and I was prescribed & have been taking since - Omeprazole. At my follow up with my GI doctor (who I happen to like) in February of this year, I discussed my new issues with diarrhea & no more solid bowel movements, as well as the inability to “wait” to use the restroom, and feelings of uncomfortable bloating/fullness. He performed an upper endoscopy in March of 2017, and took six biopsy samples of my stomach & duodenum. All he found was evidence of gastritis. I was prescribed an antibiotic to treat travelers diarrhea and IBS for two weeks, with no relief in sight. Between March & May (when I had my colonoscopy performed) I tried Questran, & Creon. Creon only offered mild relief in aiding the digestion (if I can use that word in reference to diarrhea?) of fats, of which I can no longer tolerate today. Between March & May I started bleeding with using the bathroom, which forced me to have a colonoscopy.
In May of 2017, I had my colonoscopy performed. Going into this procedure, my doctor was set on saying I had UC (though my speculation was ALWAYS ONLY Crohn’s because of my oral lesions, which is not mentioned in UC) so all of my biopsy results were only tested for UC - not Crohn’s. He took three samples of my colon only, and looked at the small part of the terminal ileum that he could see with the naked eye, but again, no biopsy of this area. All came back negative, however, he said I had internal/external hemorrhoids.
In June of this year I had a PillCam performed. All was clean again, no evidence of Celiac, Crohn’s, UC, ulceration of any kind, etc. The only recorded findings were that I had a “slow transit” and so my doctor bounced me to an IBS specialist, whom I did not care for, so I no longer see her. Due to lack of findings, my GI doctor who I highly respecat, diagnosed me with IBS type D, and tried me on a low dose antidepressant, which I could not tolerate due to excessive fatigue so it was discontinued. This was back in August.

Fast forward to later in this year.. the joint pain I’ve been experiencing for years (since early asolescence in the knees) began migrating & became too much for me to bare. I saw a Rheumatologist who did an exam and ruled out any autoimmune disease of the “Lupus type” (as they called it) - Lupus, RA, Sjogrens, etc. He next ordered genetic testing, of which he said would cover a host of diseases (only to find out later he only tested me for any Periodic Fever Syndrome & that’s it- pissed about this) and while I waited for results, I sought help elsewhere. I saw another Rheumatologist, who, like my primary doctor, immediately assumed I had RA, and was surprised the results were negative. She also ran genetic testing and her results came back first - I am positive for HLA-B27. On November 30th, I was diagnosed with Ankylosing Spondylitis. She admitted individuals with this mutation have digestive distress, and that I am predisposed to developing IBD, as well as psoriasis, RA & basically any other autoimmune disease. I finally received my results from my first Rheumatologist, and he told me I have two genetic mutations of the NOD2 gene. Based on this, he concluded that I had a rare disease he called “Yao Syndrome.”

I have completely refuted this diagnosis, as two primary indicators of this disease are recurrent fevers.. don’t have, as well as recurrent rashes, which I only have occasionally. I was also diagnosed with uveitis or chronic dry eye in this time. My main issues are GI problems identical to Crohn’s symptoms, mouth ulcers, chronic fatigue, and joint pain, especially in the neck and back. In doing my own research, I came across the knowledge that NOD2 or CARD15, as it is also called, is strongly indicative of IBD. My GI doctor even told me that this gene is what medical professionals refer to as the “IBD gene.” Those with one mutation stand double the chance of developing Crohn’s, and those with two stand over forty times more likely to develop the disease. Even further, the specific antigens that I have ( I can’t remember their exact names, and don’t have my paperwork with me) are directly coorelated with Crohn’s disease.
My GI doctor said that not everyone with Crohn’s has a genetic mutation, but those with one almost always end up developing the disease and sadly, these patients are the ones who typically do not respond favorably to treatment. He still did not offer me a diagnosis outside of IBS though at this time. Though I do not agree entirely, I do respect him fully & really like his qualities as a physician.

My questions & point for posting all of this bible here is to ask.. has anyone ever had Crohn’s and not had diagnostic imaging suggest so? I studied psychology, and we could often time conclude a diagnosis as “atypical” bearing we found the clinical aspects of the disease/condition, even if traditional testing measures couldn’t support the conclusion. Is there such a thing as “atypical crohn’s”? Or, is my issue lying in the fact that I was actually never even tested for Crohn’s at all, so it really can’t be ruled out? Is Crohn’s ALWAYS seen with the naked eye through cobblestoning, ulcers or lesions? Or is a biopsy sometimes needed to diagnose a microscopic level of the disease? Could My disease possibly be just so early in development that it can’t be seen yet?

I had kind of wanted to seek a second opinion, but really wanted to make sure I fell into the right hands. This would actually technically be my fourth opinion (excluding all of the other specialists I’ve seen), so you can see how stressed I am at this point. Could anyone recommend a physician in NYC who is really well versed in Crohn’s? Someone who maybe has genetic experience since this seems to be my strongest indicator as of now? I really need a physician who maintains good bedside manner.. they don’t ever have to be really “nice” just willing to openly listen to my rare case that I want to attack before it continues to attack me. This is so rough; I can’t imagine living in a world where it could possibly get worse.

Thank you in advance.
12-18-2017, 11:33 AM   #2
Senior Member
Scipio's Avatar
Join Date: Oct 2015
Location: San Diego

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Mt Sinai In NYC has some of the top Crohn's docs in the world: Dr. Marla Dubinsky and Dr. J-F Colombel and their team. Since I haven't been treated there I can't speak to their bedside manners, but they are top notch with respect to knowledge about IBD.
12-18-2017, 11:50 AM   #3
Join Date: Dec 2017
Location: NYC, New York
Wow, thank you so much for this information. I am familiar with Mt. Sinai in other respects, so I am glad to learn this & eager to do some research.

Anyone else who can offer information? I would greatly appreciate this gesture.
12-18-2017, 02:02 PM   #4
Join Date: Apr 2013
Has anyone looked for evidence of Behcet's disease?

I know almost nothing about it, but I think it involves mouth sores, uveitis and chronic GI troubles...
12-18-2017, 02:21 PM   #5
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ronroush7's Avatar
Join Date: Oct 2013
Location: vienna, Virginia

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Hi. It might be because you weren't specifically tested for Crohn's disease. I hope you get a diagnosis soon.
Diagnosed in 1990. On Humira, Imuran, Gabapentin, Colestipol, Synthroid, Lialda. Resection in April of 2010. Allergic to Remicade, Penicillin, Flagyl, Doxycycline. Thyroid issues and psoriasis and neuropathy and mild cerebral palsy. Mild arthritis in my lower back.
12-18-2017, 08:55 PM   #6
Tony_G's Avatar
Join Date: Dec 2017
Location: New York, New York

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My symptoms were clearly present. However, my brother is also having symptoms that resembles crohn's but like you, drs are having a hard time finding physical evidence inside him. My brother also isn't pushing to try and get answers so there is not much happening with his diagnosis.

I currently go to dr Alan Lesman who recently joined advantage care physicians and is based in flushing, not far from the 7 train. I like that I lead the conversations with him although once he gets into a train of thought you may have to cut him off sometimes, lol. Anyway, I've been seeing him since I was 18 (now 26) and I haven't had the issues that I've faced with other GIs in the past.

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