Now being tested for “Systemic Mastocytosis”

As of this past Thursday, June 23, 2016, I am now being tested for something called “Systemic Mastocytosis.” rarediseases.org describes this illness as, “Mastocytosis is a rare disorder characterized by abnormal accumulations of mast cells in the skin, bone marrow, and internal organs (liver, spleen, gastrointestinal tract and lymph nodes).”

From the Mayo Clinic website:

“When triggered, these mast cells release substances that can overwhelm your body. You might experience symptoms such as facial flushing, itching (pruritus), a rapid heartbeat, abdominal cramps, lightheadedness, or even loss of consciousness (syncope).”

From rarediseases.org

“Bones affected by mastocytosis may become softened and deteriorate ... break-down of bones ... may lead to life-threatening episodes of anaphylaxis (anaphylactic shock).”

They also state, “Recent studies have found that up to 10% of patients with severe allergic reactions to bee stings may have mastocytosis.” I don’t know what they mean by “severe,” but I’m supposed to carry an EpiPen with me after having a bad reaction to a bee sting in the late 1990s.

I also developed severe facial flushing and hives after having an “MRI with contrast” a few weeks ago, and patient.info states that “some radiographic dyes” are a possible trigger for mastocytosis symptoms.

The problems in figuring out what’s going on

1) The first problem in figuring out what’s going on with my body is that all of these illnesses are rare, so you have to find a doctor who knows about them. An endocrinologist deals with the pheochromocytoma and paraganglioma, and I don’t know who specializes in mastocytosis. This is what led me to the University of Colorado.

2) The problem with figuring out if I have (a) mastocytosis or (b) pheochromocytoma/paraganglioma is that I have symptoms of both illnesses. For instance, I have facial flushing, itching, rapid heartbeat, abdominal cramps (twice), lightheadedness, loss of consciousness, nausea, vomiting. I also have a problem I describe as feeling like my bones are spontaneously breaking while I’m doing nothing. The last time that happened I couldn’t walk on my left foot for four days. Furthermore, in regards to blood pressure, if anything my blood pressure tends to go high rather than low, and that’s more a symptom of pheochromocytoma/paraganglioma than mastocytosis.

3) A third problem is that I have many of these symptoms, but not all of them. For instance, I don’t have any skin lesions, so I surely don’t have “Diffuse cutaneous mastocytosis.” I also don’t have diarrhea, which seems to be a common mastocytosis symptom. Both illnesses state that headaches are common, and I had severe headaches for nearly three months late last summer, but since then they have subsided.

4) A fourth problem is that my previous labwork indicated that I may have a pheochromocytoma or paraganglioma, but the University doctor suspects that mastocytosis is more likely. My labwork showed certain values that were two to three times higher than normal, and she said that most people with these tumors have values that are five times normal, or higher.

5) Back in December through February I used to have “attacks” (or episodes) where I would have severe symptoms that would last 15-30 minutes, but more recently this has changed, and now the symptoms are much more consistent (and persistent). They aren’t “attacks” so much any more as they are things that I try to live with. I either try to work through them, or I lay in bed as long as necessary.

6) Finally, another problem is that there are other things going on. Several times since December my calcium levels have been high, and despite being on a DASH diet since December, my creatinine level has been measured between 1.2 and 1.8, with the latter tests indicating CKD II or III.

Systemic mastocytosis life expectancy

When I was trying to read about “bone pain” in regards to mastocytosis last night, I found some numbers related to mastocytosis life expectancy. I can’t find the website I was looking at last night, but that website said that depending on the sub-type of mastocytosis you have, the life expectancy would be one of these things:

• Normal for someone my age
• 41 months
• Just a few months (for the most severe sub-type)

This isn’t the same website I was looking at, but patient.info states, “The median survival for aggressive systemic mastocytosis is 41 months and for mast cell leukemia it is less than 6 months.”

If you’re interested in the nitty-gritty research details, it looks like the original source of this information is probably this bloodjournal.org article, which states, “Survival in patients with ISM (median, 198 months) was superior to that of patients with ASM (median, 41 months), SM-AHNMD (median, 24 months), or MCL (median, 2 months).”

Honestly, those numbers strike me as odd. The thought that comes to mind is, “X number of months from what?” In my case, I knew something was wrong last October when I first went to my doctor. After that I started passing out on December 14, 2015. Then the symptoms went from (a) “episodes” to (b) nearly constant somewhere around February. And now in June I’ve been passed from one doctor to another, and she wants to repeat the labwork. So again, “X months from what exactly?”

Pheochromocytoma, paraganglioma, or mastocytosis?

While my doctor at the University is testing me for systemic mastocytosis, I forgot to ask her how or why this would also result in labwork that indicates a possible pheochromocytoma or paraganglioma. Obviously I’m not a doctor, but it seems weird to have labwork that shows I may have these things, but she thinks it’s more likely that I have the systemic mastocytosis.

That being said, she isn’t ignoring this labwork; she just doesn’t seem to trust the previous labwork and wants me to repeat it when my symptoms are bad again.

Honestly, the thing running through my mind is, “How many more bad days do I get to have before I don’t get to have any more?” All of the symptoms are consistently getting worse, so when you’re going through this it makes you wonder how many times you can pass out, until one time you just don’t wake up again. (If it’s not obvious, I’m a wee bit frustrated at the moment.)