Mastocytosis can be somewhat relatively easy to find on a clinical test, especially when they know what they are looking for, but mast cell activation syndrome poses a real diagmostic problem due to its nature, according to the experts:
The condition can also be difficult to diagnose, especially since many of the numerous symptoms may be considered “vague”. Patients often see many different specialties due to the inherent multisystem nature of the condition, and do not get diagnosed until a holistic view is taken by a diagnostician
I became sick shortly after birth and spent my early years going from specialist to specialist looking for answers as to why I had severe anemia, digestive problems and a seizure disorder. As I grew older my symptoms changed, but I was always sick with inflammatory and allergic symptoms, on some level, my entire life. I had a lot of skin rashes, infections and other problems in childhood, most of which I “outgrew” along with the seizures.
As a teen I was diagnosed with everything from endometriosis to IBS to gingivitis but none of my doctors ever connected it to one root cause. They also didn’t seem concerned that I was “allergic” to almost every prescription and OTC medicine I tried. They just shrugged their shoulders when I described how sick they made me and none ever referred me to an allergist, even after I showed them the hives I would get.
Early in my adult life I went to the doctors a lot. My tests almost always came back “normal” and I felt like I was crazy so I stopped seeing doctors for a long time. I just knew they thought I was exaggerating or straight up making things up for attention (I wasn’t), and I began to wonder if I was imagining all these symptoms myself.
How in the world could I really be so sick from head to toe with no known cause?
I sought out psychiatric help but it didn’t help. Like everything else I tried to do to “fix” me, it backfired and the medicines made me much, much sicker. I gave up on doctors for a long time and suffered alone.
It wasn’t until I was in my 40’s that things began to get worse. I had raised my kids up and into young adulthood and opened an in-home daycare. We used bleach a lot and there was a lot of happy stress. My health took a complete nosedive in less than 3 years and I had to close my business. I couldn’t work at all anymore and could barely function. I was practically bedridden 24/7.
By the time I realized I had a systemic inflammatory/allergic issue going on that wasn’t going away, was getting far, FAR worse no matter what I tried to do to “fix” it and needed to be seriously evaluated by the right (?!) doctor, I was limping and using a cane off and on when I did get out of bed because my hip and ribs and gut hurt so badly. My allergies were worse than ever and I was drowning in mucus from head to toe.
I was also having a lot of other symptoms of MCAS (like hives from hell that weren’t going away) but didn’t know it because I’d never heard of a mast cell, let alone mast cell disease.
I didn’t connect my symptoms (yet) to my estranged older brother who was struck down in a similar way at about my age. By the time I made an appointment with my immunologist he was already bedridden with severe osteoporosis, COPD and a “mystery immune system disease” that no one seemed to be able to figure out. He went from healthy, or looking healthy, to severely impaired so quickly we honestly thought he had AIDS (he doesn’t).
To make a long story short, by 2015 I began to suspect it may be “delayed food allergies” doing it to me, after remembering that my mom had given me whole cow’s milk as a newborn. I thought it was my dairy intake causing me grief, perhaps combined with a ‘leaky gut’ that needed fixed and that’s when I made the appointment.
I was lucky that I found an immunologist who recognized mast cell activation disease early and had me diagnosed within a short time.
I had told him I would have reactions from head-to-toe, both allergic and inflammatory, a few hours after I ate dairy, soy and corn. Those were obvious triggers I had been able to identify for what I was calling at the time “food allergy flares”.
I had a list of almost sixty symptoms that I fully believed were linked to my food “allergies”. Many of them line up perfectly with the mast cell disease symptom list, which is pretty amazing. When I first went off the food triggers I felt like a brand new woman. Many of my symptoms disappeared, almost miraculously!
It didn’t last though. My immune system rebounded on me hard.
For a while I suspected these food allergy proteins I had isolated as triggers were in all the pills I took over the years that gave me hives and made me itch whenever I was put on a prescription. It made sense since I thought I was “allergic” to dairy, soy and corn, which are in everything, so I basically wanted confirmation from the immunologist that I was right.
I didn’t know about mast cell disease yet.
I told him I had also been getting hives my entire life for no apparent reason but they came up really bad after using estrogen cream. I thought it was the soy in the cream, which made my theory about food allergies seem even more plausible!
Obviously I am not a doctor (haha).
I also wanted to ask him about the wasp sting reactions I’d had in 2014/2015. I had never been stung in my life and then was stung three times in less than a year’s span (thanks, universe!). Each reaction was worse than the last. I sure didn’t know this was all signs of mast cell disease.
By the time I saw him I was a mess. I was more sick than I’d been my entire life and I was getting worse by the day it seemed. My hair had been falling out, my weight was never healthy and at the time I was bloated from swelling (I was almost always underweight in between the swelling), I had huge black shiners under my eyes, my gut was killing me constantly, etc. It was BAD.
He listened very intently to my laundry list of symptoms and sent me home with two epipens and instructions to use them. He went ahead and ordered food allergy testing and did a lung function test that showed I have reduced lung function.
The food allergy tests came back negative but later that day three of them swelled and itched really bad. They did it again the next day. Hmmm.
He said he’d never heard of that happening and ordered a tryptase test but it came back normal. I was exhibiting a lot of symptoms that pointed towards the possibility of mastocytosis, including a possible urticaria pigmentosa spot, so next was the first bone marrow biopsy. It came back with a hit on the CD25, although it was minor, but it did show up which sent me into a tailspin.
All I could think about after that was the flat, discolored and intensely itchy patch on my labia, of all places, that flared up every time I flared from head to toe with mast cell degranulation symptoms (again, thanks, universe!).
I just knew it was a urticaria pigmentosa. I knew I was on my way to being diagnosed with systemic mastocytosis and I lost it. I literally went downhill by about a thousand percent over the next several days and weeks, struggling with intense joint and bone pain, pins and needles, hives, bleeding gums, you name it, it hit me.
I also found myself at the neurologist during all this because I was now having full fainting episodes and seizures again. Yay me!
At the same time, I remembered my estranged half-brother (the one I mentioned earlier) had been really sick with a mystery disease for several years now that had left him bedridden since his early 40’s with osteoporosis and COPD, among other things (and now dementia, too!) — all symptoms of mast cell disease!
I made a few calls and heard through the grapevine (we are still estranged) that he does, indeed, have mast cell disease and had recently been diagnosed himself. Great!
I went to the gastroenterologist, too, around this time because my gut was on fire still and I was passing tons of mucus after going on an elimination diet. He tested me for celiac disease (NOPE!) and later he also referred me down to the University of Utah for a scope on my intestines to look for mast cell disease. They found evidence for GERD and also a couple of diverticuli in my colon, which explains a lot of the stabbing pain when I get inflamed. Still no sign of mast cell disease, though, but that doesn’t mean much for MCAS. It’s not always found on the tryptase or even mast cell cluster tests.
My inflammation always shows up on blood tests, though.
While I waited to go down to the University of Utah to have both a 2nd BMB and the GI scope done at the same time, my next stop was the gynecologist to have my regular checkup. She listened to my description of mastocytosis and knew I was being worked up for it and offered to biopsy my “permanent itchy hive patch” as I called it (before I knew what a urticaria pigmentosa even was) and I said YES PLEASE!
Unbelievably, the tests came back NORMAL for that, too, BUT… it also said that the lesion was made up of “elevated mast cells” (?!) and she said that it was unusual and I needed to do a follow up with a dermatologist on it or maybe my mast cell disease specialist?
I hadn’t wanted to let the dermatologist guy do a punch biopsy on my “not a UP” when I had seen him a few weeks earlier, but did let him punch biopsy a ringworm shaped lesion on my thigh I’d had for a while, which turned out to be a granuloma annulare, just as I suspected.
My first one had appeared and then disappeared a few months before my diagnosis. I would later find evidence that the tumor necrosis factor my mast cells are squirting out is the very same mediator that creates these granuloma annulare.
At the same time, the doctors all began to notice my flushing and dermatographia, which I had always had but noticed was getting worse, too.
When I’m not medicated wherever I scratch, even lightly, turns into raised welts and itch and they burn really bad for ten or twenty minutes so I try not to scratch myself (even though it feels so good sometimes!) because it HURTS.
I also get a lot of instant swelling which really shows since I’m pretty tiny naturally. Aside from my pregnancies I was almost always underweight and on the low end of the BMI so the swelling and instant weight really affects me. I will gain upwards of six to eight (or more!) pounds of swelling in a short time and lose it really quickly, too, when the degranulation event is over.
Along with the red welts that burn when I even just lightly scratch my skin, I get regular hives (mostly on my torso and now on my feet) pretty easily, too.
Both of these were taken after my diagnosis and after I was put on medicine.
By the time I saw my doctor and got my diagnosis I had 54/58 symptoms (I am using the symptom list here for reference, some symptoms weren’t listed or come and go etc. but these are my general numbers). With mast cell targeting treatment I have been able to find almost complete remission for hours or even days at a time through strict trigger avoidance (aka staying home in my safe bubble) and by taking proper medications.
I am still incredibly sick though, just under the surface, but at least I have a diagnosis and treatment that finally relieves nearly all of my symptoms, even if it’s intermittent. The alternative is much, much worse.
Update 9/17/17: I have stopped taking several of my mast cell disease medications. You can read why here.