Irritable Bowel Disorder/Disease. Inflammatory Bowel Disorder/Disease. So common. So many people. So painful, debilitating, inconvenient, and frustrating. Why? Because there is no cause. No reason. No cure. They can’t figure it out.
In fact most times I went to my GI clinic in a state of the art teaching hospital, there would be signs up for volunteers with an Irritable Bowel Disorder or Inflammatory Bowel Disease diagnosis, to participate in research to determine what it is and why it happens.
By the time I was put through every GI test possible by two GI specialists over the course of five years, I was given the same diagnosis. Irritable Bowel Disorder along with Cyclic Vomiting Syndrome and recurrent Mallory Weiss Syndrome.
I was put on a few medications and told to follow the FodMap diet. To avoid fermenting food as it would sit in my stomach and make me ill.
I sat in that office as my GI’s mat leave replacement told me they’ve checked for everything they can think of, even some really rare things they sent urine samples to another city for (talking about mast cell diseases).
Then she adopted a condescending tone that I had heard so many times before, as I’m sure so many others have, especially those diagnosed with irritable or inflammatory bowel disorders. The “listen I don’t know why you keep coming here insisting somethings wrong, because we’ve proven there isn’t” tone.
All she could say was that I had this mysterious irritable bowel disorder that they likely attribute to oversensitive people, and a problem with vomiting that was also just one of those things they can’t explain.
After that appointment is when I seriously started to question my sanity and whether or not I really was a hypochondriac like so many people thought (that’s for another post). I was so sick of Dr’s and hospitals and clinics and tests and specialists.
Why was I always going to the Dr? Was I actually having symptoms? One thing was becoming very clear. Whether or not there really were problems, they weren’t going to get fixed.
So I stopped. I stopped telling people how I felt. I stopped going to the Dr whenever some new scary symptom emerged or old ones persisted. I started hiding more of my symptoms, I started staying in more and turning down invites.
As it turned out, as soon as I stopped fighting for answers, my symptoms took a giant leap to a whole other level that DEMANDED answers. I’m talking of course about anaphylaxis.
Although looking back, I had definitely experienced varied levels of this occasionally in the past, it didn’t become extreme and frequent until early October of 2014.
It was those back to back to back “attacks” that resulted in ambulance rides that finally led to an ER Dr to suspect not just a mast cell disorder but mastocytosis.
That hunch resulted in my eventual skin biopsy proven diagnosis’ of Urticaria Pigmentosa, and Telangiectasia Macularis Eruptiva Perstans (UP and TMEP), along with the bone marrow biopsy and aspiration proven diagnosis ‘ of the chronic bone marrow cancer’s Systemic Mastocytosis with positive CKit/D816V mutation and Bone Marrow Eosinophilia.
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That’s quite a mouthful of scary, horrible conditions for someone that was put through the ringer of medical tests and “proven” clear of anything serious going on.
That is what has fueled my passion for making people aware of just how difficult it is to be diagnosed and that mast cell disorders are not as rare as they think. Therefore they have no place shrugging off the people who suspect they have it.
Because you know what? We are adults with working brains and computers too. And we know our bodies. We are not all attention seeking, pill chasing, hypochondriacs.
We simply want someone to listen and to believe that how we are feeling isn’t normal and we have the right to do whatever we can to pursue a life with less pain and suffering.
Let’s start with how hard it is to even get Dr’s or specialists to test you for mast cell disorders. Often the mere mention of such a thing is met with a scoff and chuckle or something like “Oh no you wouldn’t have something like that…it’s really rare.”
We all know how frustrating hearing that line is.
Yes ok maybe mastocytosis is rare. But that’s just it. It’s rare. It’s not impossible or non existent. Because people need to actually have the disease for it to even be something you could call rare. Anyways.
Let’s say you strike gold and someone for some miraculous reason has actually heard of mast cell disorders, and chooses to dig deeper and send you for a serum tryptase test and/or a urine histamine test, to rule it out.
That’s a huge feat in itself! Finally there may be answers coming your way after years of suffering physically and emotionally.
Then come the blows. One or both came back normal. You don’t have it. In my case my GI only checked my urine histamine levels. Which came back normal.
When the ER Dr in October suspected mastocytosis, he did a serum tryptase test. This essentially shows how much your body is under attack by allergens. Normal levels are typically not higher than 11, however they can go up to 20.
Anything over 20 can only be caused by Systemic Mastocytosis. Three months after that ER visit, my dermatologist called to tell me she had the results and my level was 94.
When I went to get a baseline test done (when I wasn’t feeling as symptomatic), it came back in the normal range.
Moral of the story? The only two tests that Dr’s (who have heard of mast cell disorders) use to determine a diagnosis, are not reliable. At all!
The temperature of the urine samples need to be kept at very specific level, and in my case it was sent to a city 3 hours away. Somehow I don’t believe it possible to rely on those results at all.
Then there’s testing your serum tryptase. Well that is known to go up and down depending on the allergen load to your body.
For example one of my biggest mast cell triggers is my menstrual hormones. My tryptase level goes up and down every month in response to my cycle (that’s a whole other post again).
So what should they do to find out if you have a mast cell disorder? First of all nix the urine test all together. If the patient presents with systemic symptoms, just do the bone marrow biopsy. Just do it. That will show any bone marrow involvement which of course is essential.
If they present with suspicious spots, a quick easy skin biopsy can determine the presence of elevated mast cells. This disease is so elusive and invisible, you literally need to get into the skin and bones to discover if it’s even there.
Blood and urine typically won’t tell you anything other than you may or may not be in the midst of a substantial reaction or mast cell degranulation event when you did the test. That’s it.
Dr’s that have actually heard of mast cell disorders and request one or both or those tests, believe it is more than enough to rule it out and feel they’ve been extremely thorough for taking it that far.
And it is great they did it. And some are lucky enough to be diagnosed that way.
But sadly, their knowledge of mast cell disorders was likely not learned in med school. And therefore it really isn’t their fault. It goes back to the lack of awareness. Hence this website.
There’s also a false notion that if your blood work is within normal ranges, there is nothing serious happening in your body. For yeeears my blood work would usually come back “normal” with slightly elevated white blood cells and low immunity.
Every time they said the same thing..”Yeah so you probably just have a bit of an infection somewhere.” Ok. Where??!! And off and on for over a decade is normal??! But I had no choice but to believe that.
Every time I felt like death, I would just tell myself over and over not to worry because I’ve had so many tests and my blood work is ok so there can’t be anything seriously wrong.
I remember my family Dr saying once, “You have a lot of things going on hey?” With a tone of hypochondria to it… to which I immediately replied “Yes I do. And it really sucks!” and I got up and left before I either snapped or started bawling.
After my biopsies came back and he got an ass covering letter from my GI, he looked at me and said “I’m really sorry you have this, and I apologize I didn’t find it.”
Words cannot express how that felt after years of seeing him on a regular basis and not getting answers, only an ever questioning mind.
My life purpose and goal has now shifted. I went from not knowing exactly where things were going, except it would likely include another true love and passion of mine, aviation. To being fiercely passionate and convinced of the fact that unexplained gastrointestinal symptoms can almost always be linked to some form of mast cell disorder or mastocytosis.
I would love to see three things change. One..The fact that the majority of medical professionals including GI specialists, have never even heard of mastocytosis or mast cell activation syndrome/disease.
Two…Anyone presenting with what would otherwise be diagnosed as IBS or IBD, would have testing to rule out MCAD (mast cell activation disorder/disease) and mastocytosis.
And three… Those tests would be changed from inappropriate and unreliable ones to appropriate and definitive ones.
The lives of so many people could change and they may finally have the opportunity to take back their lives or parts of their lives that may have been immensely impacted by having one of these diseases/disorders.
It is my mission to make as many medical professionals aware of these disorders and cancers as possible.
That some day when you search “average time to diagnose mastocytosis,” that number will change from 10 years to 10 weeks.
Giving us a fair chance to avoid mast cell triggers/”allergens” and start treatment, and often chemo, sooner. To avoid the years of emotional and psychological pain of being treated like it’s in your head.
I am now being treated at the Tom Baker Cancer Center here in Calgary. I have a cancer card and Alberta Cancer Board number.
Unfortunately I have a genetic mutation in my bone marrow that doesn’t respond to chemo, therefore it is not an option for me, although it can be for “masto’s” without the mutation.
So instead, I go there every few weeks for blood work and an exam and consult.
My hematologist also referred me to an oncology psychologist I see once a week, in part to help me deal with how long it took me to get a diagnosis, and all the criticism and disbelief that came with it.
No one should ever have to go through what I have to get where I am. And I’ll never stop trying to change that.
