Hello folks,

I'm new here. I know it can be annoying to hear from people who don't have a confirmed diagnosis yet but I hope you'll indulge me. I promise I wont go around commenting on things I know nothing about. I was recently told by an allergy specialist (about my 40th specialist of one kind or another in a decade) that he suspects I may have systemic mastocytosis enteritis. The tests are still months away and I am trying not to get too excited, since I have been given many false diagnoses over the years. But having exhausted most of the masto reference information I can find, I was hoping that perhaps I can get more information by writing to this community.

So if you have any feedback, I would absolutely love to hear it. I would especially be grateful for feedback related to my symptoms and whether these sound familiar to you.

I started to have problems in Jr. High. Specifically, I was a competitive short and long-distance runner, and then one weekend I had a stomach ache and couldn't even go 5 minutes without stopping. I finally threw up and had to stop running. I have not been able to exercise without pain since then, and I can't run at all. Pain is my primary symptom. I have low level abdominal pain all of the time, occasional sharp pains or periods of sharper cramping/pain. Then occasionally I have attacks.

When I have an attack, it can start at any time. In the past I have woken up in the middle of the night with the feeling that I have some kind of large worm or serpent in my bowels, crawling around. (Many negative tests for parasites, btw, since I do travel a lot.) The primary symptom is abdominal pain, which can hit me like a wall but usually gradually worsens until it's excruciating. At the beginning I sometimes go in to shock (brain and body moving at different speeds, having a hard time speaking or opening door knobs, sometimes I pass out for a short time) and then that goes away. I usually try to get to a bathroom quickly because hours of vomiting and diarrhea follow, sometimes at the same time (an organizational nightmare) and often I have extreme hot and cold flashes which alternate. They can be so strong that I have to tear all of my clothes off if I feel hot, and lay on the floor (I'm a complete germaphobe normally), and when I'm cold I can't warm up and I shake violently and uncontrollably. The worst part is the pain, though. The pain gets so bad that I start to consider some pretty extreme ways of escaping from it. This can be blessedly short, or go on for hours (usually).

My family members have been diagnosed with Celiac disease, and gluten seems to trigger the attacks, so for years I have been using the explanation that I have gluten intolerance and I have adhered to a very strict gluten free diet. However, my doctors (even some who have CD) have always said that my reactions seem extreme for CD, and that they think there is something else going on. While becoming gluten free cleared up some symptoms, I still have many remaining. A few of them (besides periodic attacks that I associate with accidental exposure to gluten) are: I occasionally have diarrhea for weeks at a time, I have pretty severe headaches regularly and migraines occasionally, I am constantly fatigued, stressed and worn out, I go through periods where I can sleep for 10+ hours and not feel rested (sleep study shows nothing), I have weird bloating a lot of the time, etc.

If any of this sounds typical, or atypical of systemic mastocytosis, I would love to hear about it. They are planning to give me another colonoscopy and take tissue samples this time, then send those away for examination. Any advice is most appreciated!

Thank you in advance for any advice you have to share!

Cat

Edited to add:

I also have some kind of immune system weirdness. Sometimes I seem to be the only one who stays healthy and sometimes I will get any germ that passes by, especially after the attacks. I've been hospitalized when I've been infected with too many things at once and my body couldn't handle them all and I actually developed a large and life threatening abscess at one point. They put me in the terminal ward for 8 days and told me I had AIDS because they couldn't figure out how else a healthy-looking 20 year old could have had pneumonia 11 times in her life. Of course when they tested I was negative.

I also undergo some kind of dopamine exhaustion or something, because some times I don't get an endorphine response when I stub my toe or something like that, so the resulting pain is way more than it should be. I have heard this happens to other people with chronic pain but I don't know if it's common.

When I was a kid I had really bad seasonal allergies and allergies to cleaning solutions and tobacco and all sorts of things, but never anything terribly severe. When I do experience the attacks I never have any kind of swelling or respiratory distress that I've noticed.