Coping with not being able to find a diagnosis

Hi there, I'm sorry to hear about your struggles with MCAS. I think my story is very similar to yours.

I used to be an active member on this forum but found better support for this disease on inspire. BUT, I'm always looking for someone with a similar story, it helps. I'll apologize up front for the length.

The short of it is I’ve been having these anaphylactic shock episodes now for 30 years and now that I’ve been diagnosed with Mast Cell Activation Disease I’m Convinced it’s been with me my entire life. I’ve alway had “weird” unexplainable problems my entire life, starting at about age 3. As an example, The doctors were unsure if I had chicken pox twice as a child, but in 1997 I had got chicken pox’s with my 3 children, I always had severe leg pains as a child, but no one knew what was causing it, I was told not to have milk after 6pm. I’m not going to go into a lengthy history but I wanted to share a bit of my story. I could start this story at any point in my life I suppose but I’ll start In August of 2017. I had severe abdominal pain and went to see my doctor again for what seemed like the hundredth time. He thinks it’s diverticulitis Again, and the tests are inconclusive Again. After 7 days of amoxicillin I had a CT scan, inconclusive Again. Now I’m prescribed flagyl and cipro and I get sicker. Antibiotics perhaps, I think. So my doctor sends me to see a surgeon. The surgeon thinks I might need surgery for my sigmoid colon but I’m dehydrated and in pain so he admits me to the hospital. They put me on IV antibiotics thinking I needed stronger doses of cipro and flagyl. I fight with the doctors as I think the antibiotics are killing me. I’m told to “hang in there“ and I’m also having pain at the IV site. This goes on for five days and I feel worse than when I went in. So I had a bowel movement, I ate some jello and they sent me home with more antibiotics. After 2 more days I convince the surgeon that I can no longer tolerate the the antibiotics and ask to get me off it. He does. I’m still in severe pain so I have a barium enema, this test is inconclusive. It’s now time to go in, so I have a colonoscopy. The surgeon thinks it’s colitis but doesn’t do a biopsy. I also develop supposed cellulitis. I’m prescribed APRISO, a drug for colitis. The pain is still unbearable so the surgeon orders a small bowel series and prescribed amlodapine. A couple of days later I get a call from the hospital and they inform me that my surgeon is no longer with the hospital and I have a new surgeon that I have to see next week. I was given no reason for my surgeons departure and they wouldn’t tell me where he went. So,I met with the new surgeon and he schedules me to see a gastroenterologist and prescribes me 10 more days of antibiotics!! After 3 days of antibiotics I started to get tingly lips, more severe cramps, many sore spots, swallowing issues, and acid reflux. I call the doctor and they tell me to continue the antibiotics unless things get worse. After two more weeks of pain my surgeon orders another colonoscopy. I have the colonoscopy 2 weeks later. A day before my 51st birthday, on October 9th, I see the gastroenterologist and he tells me it’s not colitis or Crohns and I need to discuss a colectomy with the surgeon. ( I thought that’s why I was seeing the gastroenterologist!?!?) The gastroenterologist orders a hida scan and sonogram for my gallbladder. Another painful week passes and I see the surgeon again, he says the gallbladder has to come out and cancels the HIDA scan. He then told me my sigmoid colon should come out as well. My surgeon suggests taking care of the things we “know of” first, and then tackle the other problems. (Urinary problems, joint pains, severe anxiety, the sores, and more, we never discussed my attacks and no one ever looked at my journal and diary, even thought brought them to every appointment.) The surgery is scheduled and I have to wait another painful month. I’m in pain every day but I’m not dying so they tell me I can wait. While waiting, I go to another city to see another gastroenterologist. This did not go well, he doesn’t think I should get the surgery but thinks it’s just IBS and prescribes me celexa. Of course this just confused me more and the medication made me sick. I meet with my primary care doctor one more time and he convinces me to go through with the surgery, his words, “we’ve been dealing with this for quite some time, it’s seems like the best option.” I op for surgery as I can no longer take the pain and I trust my doctors and surgeons opinions. Surgery goes well, about 1 foot of decending colon removed, sigmoid colon, gallbladder, and adhesions from previous appendectomy (1994). The surgeons reassure me that the surgery was definitely necessary due the condition of my damaged colon. (Although the 2nd gastroenterologist said my images showed a fairly healthy colon, some diverticula, but not bad) I opt not to go home with oxycodone for pain and instead use my medical marijuana license to get 100MG THC capsules. This goes well and I taper myself down to a mantanance dose of 40mg in the morning and 40mg at night. I go back to work (I’m a teacher at a community college and I had to take sick leave for the entire Fall semester)and make it to February break. At this point I’m feeling pretty well and life seems to be getting back to “my” normal. So on Valentines Day my fiancé and I get married at city hall, just the two of us.(No stress) (Now I have to say, if it hadn’t been for the love and support of my beautiful wife, I don’t think I could have done it. She has been fantastic, as she is the most positive supportive person I have ever known, she keeps my stress levels low, as that’s one of my largest triggers. ) My wife and I go to Jamaica for our honeymoon, and of course I’m stressed about traveling, food, and not having my THC supplements. But reassured by the best wife in the world, I reservedly go. While in Jamaica I smoke ganja from morning till dusk, drink beer daily, lay in the sun everyday, swim, eat anything I want, and have absolutely no STRESS. To my astonishment I did not have any attacks or even an indication of any problems. I have to say that again, in 30 years I’ve never felt so well. When we came home I continued with the semester, and decided not to continue taking the THC supplements as I was feeling great and thinking “I’ve been cured by the surgery “ and vacation proved it. I decided not to push the boundaries with food and alcohol now that vacation was over. So, I continued to follow my nutritionists advice and stuck to a low histamine, low FODMAP diet. All seemed pretty well with the occasional weird not feeling well feeling, but I just attested it to the surgery and recovery. I mistakenly, one night 2 weeks before the end of the semester, had four microbrew beers. Since Jamaica I had an occasional light beer or two, and tolerated it pretty well. The microbrew beer was a different story. The next night I was feeling fine and we had just finished supper, boneless chicken strips, canned potatoes, and green beans, when suddenly I had an all to familiar feeling, I’m having an attack (Canned potatoes high histamine trigger, plus alcohol the night before) I run to to bathroom take a Benadryl, have explosive diarrhea, extreme cramps, and then the profuse sweating began, so my wife gave me a second Benadryl, I manage to stave off the vomiting, but I have hand paralysis and I’m having a hard time to speak, the right side of my face is going numb and my throat is beginning to swell. My wife gives me a third Benadryl and manages to get me into bed. (If I had an EPI pen, I probably would have used it) I sleep it off and the next day I’m still not right but manage to get back to work to finish out the semester. I ended up missing graduation for the first time in 20 years because I was still to sick to attend, I just couldn’t get away from the toilet. Ever since, I’ve been going downhill which got me thinking that this wasn’t just a histamine intolerance problem. I re-read some books and discovered that I had skimmed over the chapters on mast cell disease. I had skimmed the chapters because I figured it was so rare it couldn’t be me. I then discussed MCAD with my primary care doctor and now he’s convinced I have a mast cell disease. He immediately put me on Cromolyn 4 ampoules a day.

I was still pretty sick after a week of Cromolyn so I decided to put 60mg of THC back into my daily pill regimen. I’m thinking there must be a link, for me at least, between this disease and THC. Things improved a bit, so I’ve tapered back to 40mg THC and added back 20mg CBD. I’m currently waiting to see the doctors At Brighams and Women’s in hopes of nailing the diagnosis down. In the meantime I’m battling this on a daily basis and hoping not to shock again.

UPDATE: 7/31/18

I have now been to Brigham’s and saw Dr. Castells. She is doing all the testing needed for an accurate diagnosis. She looked at my current meds and agreed that I was taking the correct meds. The only changes she made was to increase my dosages of Cromolyn, zertec, clairatin, Zantac and singulair. I’m now waiting on several more tests; tilt table test, skin biopsies, pathology staining, and detailed blood work. I’ll be seeing Dr. Castells at the end of August to discuss results and where to go from here.

UPDATE: 8/10/18

I’m so confused about my condition. I’m now wondering if I even have MCAD at all. Some things fit but I don’t feel like I meet all the criteria. My thinking is that my tests are all coming back negative. I don’t have the KIT gene, I’m not allergic to anything, my triptase is normal, my 24 hour urine is normal, my pathology of my intestines is negative for mastocytosis, tilt table test was negative but I had elevated pulse rates, and Dr Castells and the dermatologist I saw yesterday don’t think any of my spots are cutaneous mastocytosis. The dermatologist told me he “thinks” my spots are a form of neuropathy. He tried to explain it to me, saying that my nerve endings in my skin are not functioning correctly and after healing my spots loose pigment? I looked up neuropathy, which is a large target, and I’m seeing things that I’ve already looked up and thought I’ve ruled out. Things like autonomic disease, Dysautonomia, symptom of diabetes, Parkinson's disease and certain bacterial illnesses? The problem is that I have some of those symptoms as well but not all? I read this article https://med.stanford.edu/news/all-news/2013/02/mystery-disease-u... and it got me questioning myself again.

In the meantime I’m still taking the prescribed medications and supplements. Over the past week I’ve been feeling better, so that is good.

I’ll see Dr. Castells in a couple of weeks to discuss all of this. I’m just wondering if other people went through all this as well?

UPDATE: 10/22/18

I haven’t posted in quite awhile so I thought I’d update my diary. Since my last post I had my appointment with Dr Castells and she has officially ruled out mastocytosis. Now we’re focusing on mast cell activation syndrome. She added more Cromolyn and singular to my meds and scheduled appointments with the gastroenterologist Dr. Hamilton and the neurologist Dr Novak. I’ll be seeing Dr Hamilton in October (tomorrow 10-23-18) and Dr Novak in July.

My appointment with Dr. Castells happened to coincide with the first day of the Fall semester at my school and my “official” first day back to work. I started work the next day and have been going straight ahead since. It’s now been 9 weeks and I think my medications started working about 6 weeks ago. I still have days that I don’t feel well, but I’ve managed to make it through so far. I haven’t had to take a Benadryl since the beginning of the semester, I think that’s a record for me. My belly pain is still a constant nag and I still have my daily bathroom issues but at least I’m functional again.

UPDATE: 6/11/19

My appointment with Dr Hamilton went well. He added colesipol for my missing gallbladder, but it is a very specific medication that must be taken at the correct times. This did not work for me. He also added propranolol for my anxiety and I have to say this was the first pill I ever took that I actually felt like it worked immediately. He also suggested that I see a cardiologist because of my iWatch heart data. My heart rate had been running on average in the eighties with random spikes up to 140 and I’d been having frequent heart palpitations. Before I saw the cardiologist I had a tilt table test to rule out POTS, this test was negative. ( I still think I have some form of Dysautonomia)

I made the appointment with the cardiologist Dr. Qazi. She had me wear a holter monitor and determined I had several atrial fibrillation attacks. This led to a stress test and new medication called flecanide. After a month I had another stress test and she increased my flecanide dosage. The increase in dosage caused me to feel drunk so the dosage was lowered. Since I’ve been on the new meds my heart rate is running in the 60’s with a few spikes here and there, and the afib attacks have subsided. I had a follow up with Dr. Qazi 3 weeks ago and she believes I’m now stable with my heart.

This Spring brought new symptoms or increased symptoms earlier than last year; May this year, July last year. This year the pain in my joints has increased, especially in my knees, neck, shoulders, elbows, wrists, and ankles. Sounds like rheumatoid arthritis but I was tested last year for the marker and it was negative. I now think it could be seronegative rheumatoid arthritis. I’m also having more muscle spasms and involuntary leg movements and twitching, traveling spot pain that is an intense stabbing sensation, I’ve also experienced a crawling sensation on my legs similar to ants or insects crawling, my hands have been sore and my finger tips have been getting numb and tingling. Ive had all of these same symptoms last summer but to a lesser degree, I now think we should rule out Lyme disease, ALS, or MS.

IN SOLIDARITY

Mark