Almost 20 years and still no diagnosis, sort of

Hello, I havent been around for at least 10 years but thought I would visit again. I dont even know where to begin with my situation but I'm sure some of my experience could help someone. It all started in 1997 with acute right lower quadrant pain which became chronic. My ob-gyn felt strongly it was a GI problem (despite no gi symptoms at the time) which led to Colonoscopy #1 - completely normal. A few years later I presented with a swollen knee with no history of injury. That sent me to a rheumatologist (I had experience in that dept already, another long story) who ordered many tests (again) and said they would most likely be normal and I should think in terms of IBD. At that point I told him my gi history. A few years with the chronic RLQ discomfort led to GI doctor #2. I also developed some gi symptoms by this time, but nothing spectacular. He said he would biopsy terminal ileum at colonoscopy #2. He didnt (although he did biopsy lower rectum for UC, which were negative) Diagnosis: IBS and advised me to see a rheumatologist. I "divorced" him. Some time passed which found me at a new pcp who sent me to GI doctor #3. This guy was great, he listened and was willing to experiment. He also said he would biopsy my terminal ileum at Colonoscopy #3. He didnt. Not sure why I didnt ask why he didnt biopsy but he told me my colon was very twisted (this is somewhat important later) He did prescribe Asacol as a test feeling this would be better than the camera pill. I took one pill, forgot about it and noticed at bedtime how much better I felt. RLQ pain lessened but not gone so he switched to Pentasa which targets the small intestine. After a couple of weeks (maybe less) and all RLQ pain was gone (and has not returned). This was 2007, this gi doc retired so I never found out why he didnt biopsy me. I saw his associate who told me "well, if he couldnt find any evidence of IBD that means you dont have it". Ok, "divorced" him. At this time my rheumatologist put me on Humira (2009) and I continued to take Pentasa, which he didnt think was necessary. His diagnsosis: Spondyloarthropathy probably caused by IBD. (2009) Saw GI #4. next. First question I asked was "are you willing to continue the treatment my last gi doctor ordered, because it is working" His hesitated a bit and then said "Yes", So I okayed Colonoscopy #4 and of course he would biopsy my terminal ileum. He didnt and this time I wanted to know why. Well, my colon is very twisted (which the last gi did not document in his notes) and the scope wouldnt reach to do a biopsy but he could see my terminal ileum and it looked normal, so.... Diagnosis:IBS and he would leave Humira with my rheumatologist although he did recommend I decreased it to every 2 weeks and dc the Pentasa so I did. I was feeling well so I didnt argue. I still see this guy (actually the NP) for other problems but as far as he is concerned I have IBS, although the NP doesnt seem to agree. Life went on for a few years and I went on Medicare and could no longer afford Humira. My rheumatologist put me on Remicade which didnt seem to do much. Went off it, went back on about a year later and it did seem to be helping until I developed a reaction to it. So off Remicade and on Simponi. I was on that about a year and didnt see much of an improvement. I just recently switched to Cimzia which I was told works fast. I am also T2D (that's another ridiculously long diagnostic comedy) and put on metformin xl. (2018) My pcp had tried me on the regular version a few years before which resulted in acute diarrhea and weight loss. The XL version is supposed to be better. I had no problems until 12/2019 (about 6 months) and attacks of diarrhea started. This went on, with some really bad stretches, until 7/2020. At my age I didnt think this diarrhea was something I should ignore although many said "well, you're on metformin and that's what it can do. Yeah, well so can a lot of other diseases. When I told my rheumatologist that Simponi only seemed to be lasting about 4 of the 8 weeks. He gave me two options: Arava or Cimzia (done by office injection which Medicare will cover). I read the side effects of Arava and said I'll go with Cimzia. I was told it works fast and almost immediately I felt better. Its been 8 weeks and I still feel better until recently this happened....

I am very concerned I have an anal fistula. I noticed for a few days my left lower butt check was itchy. I checked it out and it looked like a bug bite. I felt it and pressed, blood squirted out. EEEK. I've never had a bug bite that when I scratched it it bled. The wound is still there, somewhat sore slightly extended from the wound, and it feels sort of hard underneath? I immediately thought of "Randynoguts" and came to Healingwell again. If its still present in a week or two I will be calling a CRS I saw back in the very beginning.

So, to summarize, still no definite GI diagnosis, and experience with Pentasa, Humira, Remicade, Simponi and now Cimzia. My symptoms when I flare are joint pain but mostly extreme fatigue what I describe as "malaise" and now, before Cimzia, major diarrhea. I read that diarrhea alone can cause a fistula but with this history I have to wonder. I should add that in 2007 I had what was first thought of as a lipoma (pcp) and then a hernia (surgeon) It started as a small lump above my public bone and increased to a grape sized, firm lump. Had a laparoscopy for hernia repair which turned out to be a removal of a "sac" of old blood. The surgeon searched for an internal connection with no luck.

I should add that I have been put on prednisone several times in between biologics and it works great. You know how they feel about that choice and there's the complication of T2D

I apologize for the length of this post . Its been a journey with many interesting side trips along the way (T2D, auto immune hepatitis, and how I cured my chronic case of mouth ulcers with going gluten free for 4 years. This was just before I went on gi meds, I was desperate, and I no longer get mouth ulcers. Gluten free or biologics? Another surprise was that humira seemed to cure my extreme sensitivity to the sun. Now I feel able to answer some questions I read. Thanks to anyone who kept reading.

I edited my profile but I see it takes awhile to update so what has printed is not current

Post Edited (rootsmith) : 9/7/2020 10:18:25 AM (GMT-6)

rootsmith,

Quite a long story, and filled with ups and downs for sure. Sometimes I think our Dr's/GI's just perform guess work. Try this, we'll try that etc. Since you still have no difinitive diagnosis, you should try to seek out a new GI. Someone who can get to the bottom of things, and get the treatment plan sorted out. Good luck to you going forward.

Another complication to this diagnosis- I feel there is a strong possibility I have sarcoidosis. It also causes granuloma formation. I've read that sarcoidosis of the gi tract is rare but it does happen. I have a family history of this disease. I dont have lung involvement which is rare but also happens. It is treated in a similar way with prednisone, biologics etc. People with sarcoidosis gets sick from the sun,something to do with Vit D elevating calcium levels which causes nausea etc.

Contacted the gi NP I see about the possible fistula formation and she wants to see me. She said she also was ready to order blood/stool markers as well as a pelvic MRI. What would the blood/stool markers be?

Ok, I just looked up fecal caloprectin. First, when was this test developed? I dont recall it being discussed back in the days of my attempt at getting diagnosed. The explanation I read now is that when there is inflammation in the intestines white blood cells called neutrophils go to that area. Interesting that I have had a decreased neutrophil count (in my blood) since the early 1970's. even when my total white blood cell count goes up to near normal (4,000, sometimes it goes up a little more than that but rarely over 4500) my neutrophil count is still lower than normal. (the increase in the total count is due to increases in the other types of white blood cells. I usually have increased level of monocytes). Could intestinal inflammation be the reason why I have this neutropenia. It's been worked up several times including 2 bone marrow exams over a 50 yr period of time (1970-present). I've been told you dont usually get into trouble until your total neutrophil count is less than 1,000 (Mine has been as low as 1200). This is a concern with people on chemotherapy. It is true that when I get sick with an infection my total white blood cell count will go up, one time it was 7500. (so my body does respond to infection) Surely this caloprectin test would have been considered if it were available.

I learned that the calprotectin test became widely available for screening in 2013. That explains why it was not offered to me. My last colonoscopy was Jan 2012 and since then have not seen the gi for bowel problems. (I see the gi NP to monitor autoimmune hepatitis and GERD, once a year) It was just this past year that things went haywire in my bowel and it has been blamed on metformin which is known to cause gi issues. (except it didnt for me for the first 8 months I was on it) I absolutely detest collecting stool samples.