Going to try to just hit the highlights and share my experience; I hope in some way this helps someone else.

Late 2010; I found myself having trouble breathing in the mornings.  Specifically during my morning shower.  I had been mosquito bitten fairly badly up and down both of my ankles and when I would get in the shower they would itch very badly.  Most mornings I would lean over to try to scratch them and would find myself suddenly having a coughing attack - simply could not stop.  I would make my way from the shower and find a door that I could stretch to grab the top of and doing that seemed to offer mild relief; but the coughing would continue non stop until IT decided to subside.  As this would happen I would flush; random huge and deep red spots would pop up on my head, face, arms, legs, etc...  I noticed my skin would hive at times, but had not yet realized it was a reaction of some sort.  One morning my coughing fit got the best of me and from what the doctor said I coughed to the point oxygen had been cut off and I blacked out crashing to the floor.

To the E.R. I went; I still remember that day.  My wife had issues at work and although she wanted to take me I asked her to go on to work and my dad came by early in the morning and picked me up.  As we drove to the hospital I was flushing like crazy and he looked at me as though I was part of a side show.

At the hospital they took blood and an xray only to come back and tell me I was having a major allergic reaction to "something"; but they were not equipped to handle allergic reactions and I was referred to an immunologist.  This was the doctor who without my knowledge among other blood tests ordered a tryptase - he and one of his college friends had studied Mastocytosis and he was smart enough to do the basic test.  The problem was he did not tell me.

A week or so went by and I was feeling better.  Working like I always had 60-80+ hours a week and feeling as though I likely reacted to the number of mosquito bites I had, I was not that worried.

Here is one place I messed up.  The nurse from his office called me one day and left a message stating she needed to schedule a follow up appointment to go over my tests.  The world I lived in at the time was one where doctors try to squeeze every penny they can from insurance, I figured if something were wrong they would have indicated so in their message - I ignored them.  They called two or three more times and I continued to ignore them - I was busy; right?

About three or four weeks had gone by and one day I receive a certified letter which was copied and sent standard mail also citing "Based on your tryptase test results I feel you have a disease known as Systemic Mastocytosis and you need to repeat the test to rule out lab error; if repeated at a non-normal range you need to see a Hematologist/Oncologist."

OMG!  I received the letter on a Saturday so calling the doctor was not an option (At the time I did not think about them having someone on call; just figured I had to wait until Monday).

Tryptase was repeated and again elevated.  It was about this time that I came across this forum and started my real education regarding my circumstance.

My first Bone Marrow Biopsy was done in a hospital setting and I was put to sleep for it.  The doctor doing the BMB botched the sample and no conclusive results could be drawn from the test.  I was given the option to have this doctor repeat it or let someone else do it.  I went to UT Southwestern where doctors are active in the study of the disease and the second biopsy was a success - but this one was done in a doctor's office with only a local.

Deborah was kind enough at the time to work with me and put me in touch via email with Dr. Akin.  He agreed to receive copies of my labs and slides.  His email back to me indicated that there was an increase in mast cells but not enough for a definitive diagnosis and per his words called it a "Limited Form of the disease that may or may not progress".  It was now early 2011.

Due to chronic diarrhea and abdominal pressure my PCP ordered a CT scan which revealed an infection in my colon.  She started me on antibiotics but suggested I see a G.I....  Ironically during my scan there was a patient waiting to go in for one as well; she and I spoke very briefly in the waiting room and then as I exited from my scan she spoke to me in the hallway again.  Later that same day one of the nurses who had helped facilitate my test called me and said she was breaking protocol but felt the need to.  I had mentioned to her that I had signs of a rare disease known as Mastocytosis.  She told me in her 20+ years she had never heard of it; but the lady who came in behind me had mentioned she too had the disease.  The nurse gained this woman's permission to contact me and ask my permission for the nurse to give her my contact information - to which I agreed.

This lady ended up being a patient of Dr. Philip B. Miner, JR of Oklahoma City, OK and she put me in touch with his office.  Dr. Miner is a GI who has an extensive history with this disease.  I felt I was going to be ok.

Dr. Miner understands the disease well enough to know that currently there is no hope for a cure; so as any doctor would he treats symptoms and works to keep everything under control.  My first appointment with Dr. Miner was around September of 2011 followed by an upper and a lower a week later.  Increased mast cells throughout my GI, inflammation, mild erosion, increased eosinophils, etc.

Here is where I begin to question if I truly have this disease or not.  H1 & H2 - no help; no difference - not even the slightest.  Gastrocrom - no difference - at the time I thought he had me on a regiment of prednisone but it was the methylpredni something or other that comes in packets with your daily doses placed in a card that you punch out - no difference with that either.

Symptoms and problems resulted in me going down to just gastrocrom and Dr. Miner's PA eventually added Ursodiol which we discontinued after a few months - so it was all gastrocrom.

I got by; continued my normal day to day.  Took trips, worked, spent time with my kids; etc.

Then one day in July last year I suddenly realized I was having to make myself eat and was feeling quiet sick all the time.  I was waking repeatedly throughout the night and could not get a good sleep no matter where I was or the time of the day.  My skin started reacting differently than before and my neck stayed a deep red and irritated.  I woke up one morning and as I went to get out of bed I noticed that two deep veins that had been on either side of my belly button for years (told it was due to weight) were gone - could not tell they had been there.  As I stood to get out of bed my wedding ring fell off of my finger.  So; I weighed myself to find that I had lost 20lbs.

The fatigue started getting so bad that I would fall asleep driving (SCARY!).  I had horrid abdominal pain that would not stop in both the upper left and right quadrants.  I had to fight myself to eat.  I would break out into the worst sweats imaginable at the snap of a finger while others around me were complaining of being cold; sweat my clothes out, sheets, and even my mattress would be so damp that it would take a day or two before it was "dried" back out - ended up replacing it.  Then the legs; my legs started randomly swelling, below the knee all the way down to the ankle.  I could barely walk.  I remember weeks when I could not raise my leg(s) high enough without help and immense pain to step up on a curb.  It would be one leg, then the other, and a few times both at the same time.

Throughout all of this I began fearing for my life; the dehydration from sweats got so bad that I did not have enough leg strength to get up and down stairs.  So for several months I lived downstairs in my home.  Depression is relative; I could not understand how you could go from ok to this in such a short period of time and not be dying.

This is where I am not proud; among leaning too much on certain people I began frequenting emergency rooms.  8 visits total over the course of a year on top of doctors.  This was not the behavior that a grown, educated, professional man is expected to demonstrate.

Even my wife was growing weary of my behavior and all I could think was if I present myself enough times to enough people the law of average will prevail and SOMEONE will figure this out.  Well in my case the law of average did not prevail and although I was never "black listed" - I speculate that some opinion varied from "Psycho" to "drug seeker".

Dr. Miner kept me for a week at OU focused on testing for other immunological disease to no prevail.  He scoped me again - upper and lower, and outside of EEOC, increased eosinophils, increased mast cells, inflammation, and erosion - he saw nothing immediately life threatening.

Gallbladder went bad for no reason, I was told I have a fatty liver so when the gallbladder came out the liver was biopsied to show 30% fatty infiltration.  Despite these little findings and medicines; my issues persisted.  The weight loss halted right at 60lbs, which was the first positive sign I had; but that was it.  Due to abdominal pain and pressure I had a EUD done.  I have some lipoma (3) throughout my GI tract, but they had never been measured - one was right in the duodenum and coincided with the pain on my right side.  The EUD was to measure it and check it to ensure it could not be causing the pain and get a better internal view of what was going on in the area.  The EUD showed scarring throughout the pancreas with a pseudocyst, a benign tumor on my liver, and confirmed the lipoma was not the cause of any pain.

What a nightmare and as it stands today I still do not know if some, all, or any of these things circle back to anything Mast Cell related.  Even working with expert doctors such as Dr. Miner I seem to not fit the criteria for any diagnosis; and that's not what bothers me.  What bothers me is the "Game" of guess and go we seem to play when it comes to trying therapy to garner results.

I recently did a 6 day round of actual prednisone and despite some issues with stomach and headaches the first two days I ultimately did well.  Days 2-6 I had a regular appetite - breakfast, lunch, and dinner; my restroom breaks seemed more regulated, and I had energy that I had not had before.  Not the same now that I am back off.

Not sure if I have this disease or not, I can write on my skin most days; but there are days I am unable to and despite my truest intentions I have not found a connection to why.  I flush, but not that often, I get random strawberry like rashes, but not that often.  I have never had anaphalxys - although randomly my throat does get tight enough that it is difficult to get even a small sip of water down - I don't seem to have trouble breathing during these events.  Over the last year I was diagnosed with a moderate obstructive apnea though.  I do have inflammation around my eyes, course lines in my fingernails that Dr. Miner feels is indicative of an iron deficiency, and inflammation in my finger tips.

- sounds like I am trying to talk myself out of having the disease, when really I am trying to be rational.  I am at the point where I likely will never be fixed, but I do hope for an understanding.

I have posted a couple of times recently.  I am going to see Dr. Aiken on Dec. 2; he indicated he wants the bone marrow biopsy repeated.  I did email him and ask for clarification if a bone biopsy would have benefits over a bone marrow biopsy but have not heard back.

The forum seemed a little more active a few years ago when I first came across it; I hope all is well for everyone out there.  If you took the time to read this I thank you for that too.

Blessings of good health to everyone...


~Lucas

Lucas,

How did things go with Aiken?  I hope that the BMB gave you the diagnosis you seek and that you are having better luck with your doctors.  Thank you for sharing your story.  This is how we all learn!