Can anyone help me? Really searching for a diagnosis

I have a really long story & complicated medical history, but I'm going to keep things short & to the point as to not turn people away. I am so desperate for an answer.

I'm a 25 year old female who has been having a myriad of gastrointestinal issues for the last almost two years. During the summer of 2016 I had my first bout with severe diarrhea, which I honestly thought originated from food poisoning. Obviously this was not the case as this symptom and (new ones to follow) has become pervasive in my life. Here are my symptoms as well as diagnoses/treatments/procedures mentioned as they occurred chronologically.
-I have been having mouth sores since I was in elementary school. During high school & then college years they progressed.
-July 2014: Heart palpitations began SUDDENLY. They lasted for 24/7 for five months straight. EKG normal. I was severely underweight at this time & advised to gain weight, which should resolve symptoms. They eventually subsided, but would come back suddenly & randomly, lasting for short periods of time.
-Diagnosed with a gluten intolerance November 2014 - began a GF diet, which I still adhere to now.
-Mouth sores went away for maybe a year and then reappeared worse than before.
- Summer of 2016: GI issues, namely - bloating, cramping, lower abdominal pain (esp. right quadrant), frequent watery diarrhea, inability to "wait" to use the bathroom, weight loss.
-September 2016: Heart palpitations resumed. First referral to Cardiologist & Gastroenterologist. Full cardiac work-up (EKG, Echo, Stress Test, 24-hr holter monitor) normal.
-Diagnosed with GERD by GI doctor. Began omeprazole 20 mg daily.
-Feb. 2017 Follow up with GI scheduled upper GI endo as symptoms did not resolve.
-March 10, 2017 Endoscopy with six biopsies negative for Celiac disease. Evidence of gastritis was diagnosis.
-Began having bloody diarrhea and weight loss again. Colonoscopy performed May 3rd, 2017. Negative for microscopic colitis.
-June 2017: Pillcamera was negative for Celiac. Showed delayed transit.
-August 1, 2017 diagnosed with IBS.
The same symptoms persisted. I stopped visiting this GI doctor because he didn't test biopsies for Crohn's like I had asked & I know IBS does NOT cause bleeding. I disagree with this dx.
-October 2017: diagnosed with Sicca (Dry eye) & eye inflammation.
-Rheumatology visit in October 2017 wherein I had genetic blood testing. I was found to have a positive HLA-B27 & two mutations of NOD2/CARD15/IBD1. Also found to be severely iron deficient.
-November 30, 2017: Diagnosed with Ankylosing Spondylitis. Started Celebrex 2x daily. Sulfasalazine recommended, but I have not taken it.
-February 2017: Saw new GI doctor. Upped my dosage of Omeprazole to 40mg daily when it failed to work anymore.
-April 2017: x-ray of abdomen revealed what appears to be constipation. I can't imagine how I could have such horrible diarrhea with this. Also revealed Kidney stone. Sonogram revealed tumor in kidney believed to be angiomyolipoma. I am currently following up with a Nephrologist.

This is where I am at currently. As we speak, I have three ulcers in my mouth. These are the third, fourth & fifth ulcers I have had in about four weeks, one of which took up nearly half of my tongue & caused such severe swelling. I am in sheer agony & cannot eat, chew, and struggle to talk. The top of my tongue feels burnt from using so much lidocaine mouth solution.

My main issues right now are severe diarrhea, sometimes bloody, usually always yellow in color (it is reminiscent to me of when I was doing the bowel prep for my colonoscopy), severe bloating wherein my pants cannot be buttoned, oral ulcers, heart palpitations, severe fatigue, shortness of breath upon exertion - I cannot use the stairs, frequent urination. I am so spent. I seriously cannot live like this anymore. I know something is wrong with me.

Anyone have similar experience? Please, please share. I can't stress how badly I want answers. I almost don't even care what they are anymore.

My guess is Crohn's. They just can't seem to find it, but I know it can take years to diagnose. My genetic profile suggests Crohn's as NOD2 is also called IBD1 (Inflammatory Bowel Disease). I know oral ulcers are a manifestation of Crohn's & I've had mine swabbed for herpes, infectious disease, etc. all negative. Does anyone know, can they be swabbed for Crohn's? I have a GI appointment tomorrow & pathetically enough, I am looking forward to it. I want to know if I can have my oral lesions tested for Crohn’s so I can ask him to swab them? I don’t even know if that is a “thing.”

Post Edited (Cait2017) : 5/3/2018 9:28:28 AM (GMT-6)

NiceCupOfTea said...
Crohn's isn't a virus, and it won't be found with a swab. You had one colonoscopy exactly a year ago (strangely enough). If you've not had a colonoscopy since then, I'd ask for another one. With biopsies taken, obviously. That pretty much is the only way Crohn's can be diagnosed.

Iron deficiency anaemia can be rapidly treated with an iron infusion. If your bloodwork shows you as being severely iron deficient, ask for an iron infusion. Oral supplements take forever to work and aren't well tolerated/absorbed by a lot of people.

The mouth ulcers sound like they suck. If you do a site search for mouth ulcers you should be able to find old threads on the subject, which will probably have tips from people who have suffered from them. And ask the GI tomorrow if he/she can prescribe anything either.

I dunno if you have Crohn's or not. You have a genetic profile which makes Crohn's more likely, certainly. But that's not the same thing as actually having it. That said, you are more prone to developing it than the average person and you should probably be monitored more closely as a result. Any family history of Crohn's or UC?

One thing which jumped out at me is that you were severely underweight a few years ago. People don't generally realise it, but being underweight can cause a ton of GI issues. What is your weight like now?

Hey Nice Cup of Tea & thanks so much for the response!

I was considering a second colonoscopy (I hope this proves how desperate I am) & have discussed it briefly with my Rheumatologist. She was afraid we would run into some roadblocks with insurance, however I’ll have new coverage come June.

Thanks for the tip about the infusions. My Rheum’s Office has an infusion center & I will inquire there. Yeah, the oral lesions are nothing short of hell in real life. I can’t even find words adequate enough to articulate my pain.

I have gained a healthy amount of weight & feel that this has become less of an issue now. Although now with these severe back-to-back ulcers, eating is next to impossible.

straydog said...
I do not think getting a colonoscopy ordered now will be an issue with your insurance. You are saying none of your symptoms have improved, therefore, the drs records should reflect this. I have had scopes within 6 months of each other & never had any problem getting insurance to approve them. Have you had any stool testing, if not I would ask that this is done. I understand you have had some issues with hemorrhoids in the past. They can cause blood to appear in the stool too, especially if they are internal with all of the diarrhea. If yours are external, believe me you would know it. A quick look with a mirror will tell you if they are external. Also, I have had bleeding from small fissures caused by diarrhea.

The genetic testing is as NCOT said. It is not a tool used to make the diagnosis. A lot of people with either crohns or UC do not test positive for these genes. I read about the pillcam being negative. The pillcam is often used because they can see the entire small intestine & they can see the structural changes that is seen with crohns. By the way, yes you can have constipation along with diarrhea at the same time. I did not know this until my gi discussed this with me.

I would push for a scope & stool testing to be done now, not in June. I would also obtain a copy all of the medical records for the prior testing you have done to this point.

Hey, straydog & thanks for your input - I appreciate this.

I’ll discuss the repeat colonoscopy with my GI doctor tomorrow when I see him. I also see my Rheumatologist this month as well.

I actually do have internal as well as external hemorrhoids- this is one of two pieces of information my old GI was able to deliver after my colonoscopy. The other being that I tested negative for Microscopic Colitis, which I didn’t ask for, nor want to be tested for. My biopsies were never sent for Crohn’s like I had asked & he had told me he was doing. Finding out in the report electronically a few weeks later made me quite pissed. I still am.

I understand that the genetic component isn’t enough on its own to warrant a diagnosis of CD or UC. I just meant that in conjunction with my symptoms it seems to be more than a coincidence in my opinion.

I know oral Crohn’s is more of a rare manifestation, but I have tested negative for absolutely everything else. I am not stressed, depressed, nor does it run in my family. If the case was that I got a few every year, fine, I’d accept the whole “you’re just someone who is prone to these spontaneous sores, without a definitive cause” but with this pervasiveness in such a short time & to keep recurring I am not standing for that BS.

Might I also add: I have also had my oral lesions swabbed for herpes simplex, negative. I even had my blood tested for herpes, again, negative. I had a full battery of environmental & food allergies, which were all negative. I have also been screened for Celiac disease numerous times through blood work, upper endoscopy, biopsy & even genetic testing - all of which produced negative results. I am gluten intolerant though, and maintain a gluten free diet.

Post Edited (Cait2017) : 5/3/2018 12:38:22 PM (GMT-6)

I have very similar problems, I was reception six times in one surgery at the age of 34… I was diagnosed of Crohn’s disease when I was 18 but I’ve had it since I was about 15 my life is never been the same I have severe diarrhea all the time. Bloating all the time like you said, like my clothes don’t fit at all I look like I am nine months pregnant directly after I eat. I have also is on the outside of my body and my legs on my face so I look like I’m crack addict 😦. Basically stay home because I live in the bathroom dear God I hope you get to a doctor that does diagnose you with Crohn’s but be careful, I used to be on Humeria and I’m not quite sure if that helped me at all I’ve been off it for for five weeks now and I also seem to be healing you have to make sure that you get everything that is in your bowl... out of you !!!! I’ve had this disease for 30 years is the most painful thing you will ever endured in your life, I pray for you!
Cait2017

beave said...
How were you diagnosed with "gluten intolerance?" What doctor diagnosed that and based on what testing?

What blood tests did the rheumatologist run? Did they do ANAs and all the common known subtypes? How was the diagnosis of AS reached? Did they do MRIs of the spine?

One comment: if your GI tested your biopsies for microscopic colitis, that means they did biopsies and reviewed them. You should be able to get a copy of that review. Most likely if they said it was negative for microscopic colitis, they mean it was negative for anything. There's practically no way they could review the biopsies for micro colitis, see something consistent with Crohn's, and just say 'no microscopic colitis.'

Beave,

Thanks for your response & input - I appreciate it.

I was diagnosed through elimination diet by two different physicians. I am allowed to ingest gluten if I want, but my doctor does not recommend it. Also, anyone who has an autoimmune disease is recommended to be gluten free due to inflammation. I have AS, and believe eating GF helps to prevent severe inflammation. That is just my personal choice. Eating gluten will not damage my intestines, but it does make me sick.

I have only had XR of the spine. MRI of the pelvis as AS typically begins in & is most prevalent in the sacroiliac joint, which is best viewable by pelvic MRI. I have had ANA testing by two different Rheumatologists. DX of AS was reached through MRI & genetic testing. As I stated in my question I am HLA-B27 positive. I also carry two mutations of NOD2 or CARD15, IBD1. My former Rheum told me I do not have an autoimmune disease “of the lupus subtype.”

I understand Crohn’s can be viewable on colonoscopy, but it oftentimes isn’t where imaging can reach. A close friend has Crohn’s & has never NOT had a clean scope. Also, Crohn’s goes deep within the walls of the intestinal lining, so biopsy could be helpful in this case. In my eyes, it can’t hurt. I am more upset about the physician’s dishonesty than the fact that he didn’t test me for Crohn’s.

I'm not sure where you're getting the info that everybody with an autoimmune disease should avoid gluten, but you're certainly free to avoid it yourself.

If your rheumatologist told you do don't have an autoimmune disease of the lupus subtype, that probably means you weren't postitive for having ANAs.

You are right that Crohn's can sometimes be in areas that colonoscopies and endoscopies can't reach. That's where the capsule endoscopy comes in, along with possible MRIs or CT scans of the small bowel.

You said the pillcam was negative for celiac. Was it negative for any findings? Get a copy of the report.

You also had a colonoscopy with biopsies, so they looked at the biopsies. Get a copy of that report too.

Post Edited (beave) : 5/3/2018 7:56:59 PM (GMT-6)

I would seriously rethink celiac disease. You had an endoscopy and pill camera while gluten free? All celiac disease testing, except genetic which is only used to rule it out, requires you to be on a full gluten diet. If you do have celiac disease, it sounds like you have healed. If you are exposed to gluten, you can have celiac flare-ups.

The Gluten Free diet for all AI issues? Scripps in San Diego just released a study with IBD patients who experienced more than a 70% remission rate while on the AIP diet (which is gluten free) which is pretty amazing. But more research is needed. If I had IBD, I would trial the AIP diet for sure. As it is, I have Celiac Disease, Hashimoto’s and Autoimmine Gastritis.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647120/

Those mouth ulcers can be a symptom of celiac disease. Maybe you are not as gluten free as you think? I NEVER eat out except at 100% gluten free restaurants. I also am grain free. Does this heal a celiac? Yep, repeat endoscopies reveal a healed small intestine, at least in my case.

The abdominal MRI *might* see something that could indicate Crohn's, but MRIs specifically done to look for Crohn's have to include ingestion of oral contrast to fill up (expand) the small intestine; otherwise if it's empty, it lays flat on itself and won't give good images.

So MRIs of the abdomen for Crohn's include IV contrast and oral contrast. They also usually include an injection of a medication to halt peristalsis of the bowels. Without that, the normal movement of the bowels will lead to blurry images of that anatomy.

If I were you, I'd ask your two docs about doing the MRI with oral contrast as well as what the nephrologist has ordered. It might save you money to do it all at once. It might save time too. I don't think the ingestion of the oral contrast would affect the imaging of the kidneys, but that's something I don't know. But it's worth asking, otherwise you could end up doing another MRI a few weeks from now.

I've done several abdominal MRIs and one abdominal CT scan. They are appropriate for small bowel disease, for looking for fistulas, and for looking for obstructions of the small intestine - things that can't always be seen with colonoscopies. So they're used in addition to, or instead of, colonoscopies, depending on the location of the disease in the specific patient.

The renal and bladder ultrasounds are less likely to see anything GI related.