New...Seeking diagnosis

[rxgirl]

Hi everyone! I have been stalking this wonderful forum for a couple weeks now and decided to share my story and ever growing anxiety/frustration.

I am 33 years old. I was always a "sickly" child that spent a lot of time at the doctor, but for some reason never was referred to a GI specialist. I was always underweight, which did result in being evaluated for child abuse and eating disorders, but never a GI disorder. As a kid, I had severe nausea, vomiting and diarrhea ever since I can remember. I learned over time it was easier to not eat sometimes. Luckily, my symptoms let up during my teen years, but I was still underweight and had a sensitive stomach with off and on diarrhea.

College was about the same, off and on diarrhea and abdominal pain. I learned not to eat much meat or too many salads. I always knew where bathrooms were and luckily lived by myself until I got married to a very understanding man. I usually had a couple accidents a year, but I never complained because I just learned to live with it. I also had one bout with severe abdominal pain in pharmacy school and mild anemia, but since I looked "healthy" otherwise it was ruled as stress gastritis and treated with omeprazole for 6 months.

My only other medical condition during college was migraines, which I still have. I learned a long time ago that I cannot take any NSAIDs without having significant stomach issues. I get burning in my stomach and diarrhea with ibuprofen and either vomit or mucous like diarrhea with naproxen. Needless to say, I am friends with acetaminophen.

Then about a year ago everything began to fall apart. I started having severe abdominal pain on my right side under my rib cage. It prevented me from eating and I lost about 10 pounds in a month (5'8" down to 115 pounds). My primary care doctor ruled out gallbladder issues and basically gave up. I then began running a 100-101 temp 24/7 and started having constant joint pain with lymph node swelling and night sweats. I referred myself to a rheumatologist and he ruled out everything rheumatological (RA, lupus, etc) aTnd gave me Celebrex. The rheumatologist decided I probably just had over flexible joints and needed to do physical therapy and yoga to not stop injuring myself so much causing this "pain". Well, the Celebrex about did me in, I started having severe reflux like pain, abdominal pain and a rash.

Another couple months pass and I continue with the same symptoms, I found a new primary doctor. Around Christmas, I started having severe leg pain/swelling and after 3 weeks of testing ended up being hospitalized with a blood clot in my leg. My CRP was around 180. This is when I learned I had Factor V Leiden clotting disorder and IgA deficiency. I was placed on Coumadin and so started the parade of -oligists. My GI doctor felt the blood clot was due to an underlying GI condition due to my history and presentation.

Anyway, fast forward to now...Prometheus test says I have Crohn's based on multiple factors (see post under blood test). I still have joint pain at times, but fever has resolved. I have severe abdominal pain at times, but it is bearable. My diarrhea has turned to constipation. Still trying to get the answers, but everyone is refusing to do my endo/colonoscopy saying I am too risky even though I am off of blood thinners.

So frustrating!!! Thanks for reading.

 

[Cat-a-Tonic]

Hi Rxgirl, welcome. I'm undiagnosed too - we actually have an Undiagnosed Club part of the forum (part of the Support section), feel free to join us in there. There's quite a few undiagnosed folks here and we can certainly understand your frustration.

If you can't get the scopes done, have any other tests been suggested by your doctors? Something like CT-enterography or MR-enterography? Even the pill cam should be do-able, I would think that one would be less risky than the scopes (the scopes carry risk of perforation, which is my guess as to why they won't do them on someone with clotting issues - the pill cam carries a small risk of getting stuck, but doesn't pose any other risks that I know of).

Good luck, I hope you can get some answers soon and relief from your symptoms too. Again, welcome!

 

[rxgirl]

Thanks Cat-a-Tonic...I forgot to include that I did have a CT-E a few weeks ago. The barium was awful! Unfortunately, I had a huge right ovarian cyst (another one of my new, painful issues) blocking part of my bowel and probably distracting the radiologist. They reported multiple large enlarged lymph nodes throughout my GI tract indicative of an inflammatory process. I just seen the report, but not seen my GI to get the official opinion.

The pill cam is a good idea. I will see what progress I make with the scoped and go that route soon.

 

[em6263]

Hey rxgirl,

I'm so sorry you're going through this. I'm new to all of it myself (and also 33), so I unfortunately don't have much advice. Just wanted to say that I'm glad you're here - the people here have been a tremendous help to me (I've had a lot of questions!). Just know that you're not alone, and that the people here will definitely help and support you through it.

-Em

 

[Cat-a-Tonic]

How funny, we're all about the same age (I'm 32, will turn 33 later this year). And Rxgirl, as you had mentioned in your initial post - I'm also 5'8", and when my illness was at its worst I had also dropped down to about 115 lbs! (I'm in remission now and am back up to about 135.)

Anyway, I hope you can convince your docs to either do the scopes or the pill cam. That is very frustrating that a cyst was in the way during your CT-E! Have they suggested anything like draining the cyst and then re-scanning you? I suppose that might be considered too risky as well if the scopes are too risky? At any rate, I hope you can get some tests done that will give you some answers! Keep fighting those doctors. Good luck!

 

[rxgirl]

Well, it kind of happened in a whirlwind, but I ended up having my endo/colonoscopy at the hospital today. My doctor agreed to do it there since the outpt center refused. The doctor took lots of biopsies everywhere and my throat feels pretty rough, but otherwise no big deal.

I had a few oddities: mucosal changes with white plaques in the esophagus, esophagitis in lower esophagus, and inflammation with erosion and granularity in the gastric fundus duodenum.

Colonoscopy found: granularity in terminal ileum and nodular mucosa in ascending colon and cecum.

My GI doctor said she felt this looked like early Crohn's and wanted to talk as soon as the biopsies came back about starting Humira. She felt I had enough other EIM's especially with my months of low grade fever, joint pain, and DVT to warrant aggressive therapy.

A part of me still wishes it would all just go away, but I do not want to live (or die if i have another blood clot!) from another flare or suffer more permanent damage.

30's are supposed to be so wonderful, what gives? Hoe you all are having a good week!

 

[Raleigh]

Wow, it is amazing reading your story, because it is mine as well. Being underweight growing up, migraines in college, the right upper quadrant pain, gastritis & PPI's, the lymph nodes on CT-E, even pharmacy school. My GI symptoms were just like yours as well.

I'm glad that you were able to convince your doctors to do the scopes. It sounds like you're on the right path to finally getting a diagnosis. I'm still waiting on my biopsy results, and I'm extremely anxious to finally get some answers. I'm sure it must have been the same for you all of these years.

Do you still have the right upper quadrant pain? I have it all the time, but my previous GI's never linked it to Crohn's. I had my gallbladder removed, so I know it's not that. I would be interested to know if others experience it on a regular basis. Take care,

Brian

 

[Leebie3]

congrats on getting a definitive diagnosis! That's most of the battle for most..

ps: I'm 36 lol

 

[deb123]

Hi,

ive just been reading your posts above, and found it very interesting.
I was diagnosed with Crohns years ago now, and had my terninal ileum along with some bowel removed about 7 years ago. I have been in remission since the op, but the last month i started to get pain under my ribcage on the right side, it got so bad i couldnt inhale deeply. Then the pain would radiate to my back between my shoulder blades, and i would be so cold i would have to lie with 3 hot water bottles covering the areas for relief.
My doctor thought that it was a gall bladder, or liver problem, but the ultrassound was all good.
I had loads of different bloods taken and they were also fine?? I then started to suffer with painful joints, and swelling in these areas, especially my neck, inside of elbows, pubic bone area, wrists and ankles. I have been referred to a Rhematolgist, but am still waiting appointment.
I have been fluctuating with constipation and Diarrhea. I lost a stone in 2 weeks, because i couldnt eat. I fainted one morning and my partner took me to A&E, they suspected Lymes disease, and perscribed antibiotics, and sent blood specimen away for specialist test - still waiting for result!!
I had a review appointment with my GI doctor who thinks it could be a possible cyst, so im waiting for a MRI scan.
I wish they would hurry up and find out what is wrong, as i dont feel they are my old typical Crohns symptoms, and the joint pains and glands swelling is a new one to me. It was almost like Flu without the cough or cold.
Any way since taking the antibiotics things have levelled out, still have moderate pain under ribs and flat stools ??!!

 

[rxgirl]

Well...still waiting on a truly definitive diagnosis for my biopsies to come back from my endoscopy and colonoscopy from last week. I still have this feeling in the back of my mind that it will be something weird as everything with me has been.

Brian: have you gotten any further with your diagnosis? So, are you are pharmacists also? That is so odd that we have such similar stories. It sounds like you have had a really difficult time through the past few years. I do still have pain under my ribs, but oddly enough it seems to have lessened a lot since I gave up beef and pork completely about a year ago. This also helped me a lot with my symptoms of diarrhea. I never loved beef, so not a big deal to give it up, but I miss bacon sometimes . However, after my endoscopy, it seems that I may have more issues in my stomach and esophagus than even in my intestines, so maybe that is also where some of the pain comes from?

deb123: I would definitely be concerned that it could be Crohn's causing your symptoms, but Lyme's disease is an ugly creature also. I was tested for that along my journey. I have a friend that struggled to get a diagnosis and now has been on antibiotics for Lyme's disease for over a year (probably had it for 5 plus years!). My rheumatologist did suspect that my joint pain, fever and flu like symptoms about a year ago were coming from my vague GI symptoms and right under rib cage pain...it seems that he was right. Oddly enough, it was mainly my toes, ankles, right knee and in between my shoulders that hurt. My toes still hurt... Best wishes to you!

 

[Raleigh]

I've hit a wall with my diagnosis. The doctor found some inflammation, but apparently the biopsies were negative. How about you? From your post it sounds like they might have found something in your stomach and esophagus. It could definitely be where the pain comes from.

That's great that you were able to make dietary adjustments to help the pain. I don't really eat because I'm on TPN (IV Nutrition), so it's hard to control when the pain comes and goes. Does the pain ever go into your back? It goes into my back on the right side.

Unfortunately, no, I'm not a pharmacist. I became too sick to complete pharmacy school. This disease has taken away almost a third of my life. I wish I knew 8 years ago what I know now. Maybe it would have sped up the diagnostic process.

I hope that you're able to get some answers soon! Take care.

Brian

 

[rxgirl]

Brian--I am so sorry your struggles have taken away so much of your life. Pharmacy is a wonderful career and I hope that once you get all this figured out, you can go back to school. You would be an awesome TPN or GI clinical pharmacist after all you have been through. I worked as a TPN pharmacist for a while when someone was on maternity leave and I really feel for you. Obviously, if you are sick enough to need that, you have something very significant wrong. I will continue to send positive thoughts your way!

As I figured, my biopsy added oddity to my case. It came back as "Mastocytic enterocolitis". However, my GI doctor sent me an email saying she still thinks it is Crohn's from the scope and clinical picture. I am waiting for my follow up to see where we go. Part of me thinks this diagnosis could make sense and maybe we should explore it first? I wonder if you can have ME and Crohn's?

 

[David]

What Mastocytic Enterocolitis means is that you have a bunch of mast cells in your intestines and that causes diarrhea. The thing is, Crohn's Disease patients often have an increase in mast cells. For example, stricture biopsies often show a ton of mast cells.

So if you have Crohn's Disease and a ton of mast cells is that just Crohn's Disease being Crohn's Disease or do you and most people have Crohn's Disease and Mastocytic Enterocolitis? I don't know the answer to this. But if it is the latter, I often wonder if people with CD should be treated with antihistamines as well. It's confusing.

I'm starting to view ME a lot like IBS. I wouldn't allow for a diagnosis of just ME unless they did a thorough investigation of every inch of my bowel. Especially since the people who coined "Mastocytic Enterocolitis" never intended for it to be a diagnosis.

We propose the novel term mastocytic enterocolitis to describe the increased gut mucosal mast cells that are revealed by immunohistochemical demonstration of MCT in patients with chronic intractable diarrhea. This term is not meant to imply a specific diagnosis but rather to reflect the clinical setting of chronic intractable diarrhea with negative results on laboratory workup, unremarkable histologic appearances on routine staining, and more effective treatment availability compared with diarrhea-predominant IBS.

http://www.patho-bonn.de/documents/000015.Mastozytische Enterokolitis.pdf

Taking it one step further, mast cells are found in large numbers in the intestines when there are parasites and food allergies rearing their ugly head. So if the increase in mast cells leading to ME wasn't due to IBD, then I'd want them to try to figure out why I had them instead of just giving me some antihistamines and sending me on my way.

 

[Raleigh]

Thanks, and I agree with you. Something must be seriously wrong if I need to be on TPN. Now if I could only get the doctors to see that!

I flirted with the idea of going back to pharmacy school for a long time, but I knew it would only be possible if I was able to get this disease under control. I finally realized that I couldn't wait around hoping for my health to return. I decided to do something that I could manage now, so I went back to school to finish my bachelor's degree. I'm one semester away from graduating North Carolina State University with a degree in Finance. It's not pharmacy, but I like working with numbers, so it'll do.

That's interesting about your results. Mastocytic Entercolitis is rare, which means that your GI and/or the pathologist is on top of things. It could very well be the cause of all of your symptoms, and I definitely think it's worth exploring further. Treatment for ME is much simpler and less risky than the Crohn's meds. It would be pretty simple for you to try some H1 and H2 antihistamines, and see if your symptoms improve at all. I tried Gastrocrom in the past. It didn't work for me, but maybe it will for you, if your GI prescribes it.

That being said, I have no doubt that you can have ME and Crohn's. It's already known that allergy plays a role in Crohn's, and ME may just be an adjunct to Crohn's manifestations. Either way, I really hope you're able to get this figured out as soon as possible. You and me both. Have a great weekend!

 

[rxgirl]

David--thanks so much for the explanations. That really gives me a better understanding of the condition. I read through a couple articles about ME, but did not really understand to that extent the purpose of the diagnosis.

My GI doctor seems to not be accepting that it is just ME as she is the one that did my scopes and sent me the email with my results saying that she still believes it is Crohn's disease. She is very up to date on GI conditions and a NIH researcher. So far, I am impressed with her knowledge and personality.

As far as medications, I guess I should disclose those :ysmile:
1. Ranitidine 300mg twice daily (for about 3 years, took omeprazole before for a couple years)
2. Zyrtec 10mg daily (for about 8 years for allergies)
3. Singulair 10mg (for about 9 months prescribed by GI doctor to help with GI symptoms)
4. Topiramate 50mg twice daily (migraines)
5. Bystolic 5mg daily (migraines)
6. Veramyst nasal spray (allergies)
7. Probiotics (for about 2 years)
8. B-12 1000mcg (for about 3 years, level was 220 before I started even with taking multivitamin daily--now it is 780, but I have some peripheral neuropathy that is likely permanent and due to it being low for years before anyone checked it)
9. Multivitamin
10. Calcium with vitamin D twice daily (vitamin D is 35 with supplementation)
11. Fish oil 1000mg daily

Recently stopped coumadin for blood clot in my leg and taken off of Yasmin oral contraceptives due to increase chance/caused blood clot. I took oral contraceptives for about 12 years straight.

I will say that my diarrhea may have gotten some better since the Singulair was added, but the histamine blockers are hard to judge since I have been taking them for so long. It may just be a coincidence also as I still had some of the worst joint pain ever after Singulair was added though.

Brian--that is really great that you have succeeded to get that close to your degree in finance. I am confident that you will get there. I know that college is such a struggle when you feel rotten and even worse when you are trying so desperately to figure out what is going on with your health!

Well, hopefully, my GI doctor will get my appt moved up. Currently, I am not scheduled until mid July to see her again, but she told me after the scopes that she would move my appt up if needed. I will keep you posted and thanks again for the support and wealth of information!