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GIST Support International - Mark's Story
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A Journey of Misdiagnosis and Lessons Learned

by Mark Weber

 

Background

I am a 40 year-old father of three boys (Matthew 15, and twins Joshua and Noah 11), married 17 years, and (still) an active duty lieutenant colonel in the Army.  I’m a non-smoker, very casual drinker (always kind of despised alcohol), 5’11" tall, 165 pounds lean. I have maintained a fairly peak physical and fighting condition throughout my entire adult life.  Last summer I was diagnosed with Stage 4 cancer.  In fact, I have been misdiagnosed four times in the past three years – first as an ulcer from the side-effects of medication, then as peptic ulcer disease, then as a low-grade well-differentiated pancreatic neuroendocrine tumor (NET), then as a high-grade, poorly differentiated NET originating in the duodenum (i.e. not pancreatic).  My fifth and final diagnosis came in November 2010 - gastrointestinal stromal tumor (GIST: exon 11, 58/50 hpf, heavy tumor burden in what’s left of my liver, currently 800mg Gleevec).  For what it’s worth, these diagnoses came from five different doctors and from civilian hospitals that included one of our country’s finest.  Here’s the Reader’s Digest version of what happened:

 

Misdiagnosis

In November 2007 a 2mm (size of a pencil eraser) ulcerous bulb in my duodenum hemorrhaged.  I lost half of my blood volume and it almost killed me.  Hospital #1 performed an endoscopy and the incident was chalked up to non-steroidal anti-inflammatory drugs (a.k.a. NSAIDs) – specifically, prescription strength Aleve.  Despite an explanation to docs that I had been on these meds dozens of times in my life, including five months of traction therapy following a combat tour in Iraq, my case was considered open and shut.

Thirteen months later in January 2009, with no further history of NSAID use, the now-5mm “ulcer” hemorrhaged again in the exact same spot, and again I lost a significant amount of blood.  Hospital #2 performed an endoscopy, but included a test for h-pylori (most ulcers are caused by this bacteria).  The h-pylori test came back negative and the incident was chalked up to peptic ulcer disease.  I objected; there was a complete lack of any other digestive symptoms such as acid reflux, indigestion, and, more importantly, no other diagnostic testing of blood or urine.  “People get ulcers that have no explanation,” was the very patronizing response given to my expressed reservations about this thing being an ulcer.

For the next 18 months (Jan 09 to Jun 10), I saw my primary physician about four times regarding minor fatigue.  With my physical health history, even a little fatigue just did not make sense, but I learned not to question it.  My blood work routinely revealed a low hemoglobin (+/- 9.5), and small amounts of blood were found in my stool, but it was nothing alarming at all to the doctors I had seen, and my attitude followed suit.  I was merely prescribed ever-larger doses of proton-pump-inhibitor medication (Prilosec, Nexium, etc) with the same explanation – “people get ulcers.”

In July 2010, while preparing for a year-long deployment to Afghanistan, I went to Hospital #3 and doctor #3 and pressed my case:  I insisted that something more was at play with the ulcer and I could not afford complications in a remote place like Afghanistan.  An endoscopy (first one in 18 months) revealed that the “ulcer” was now fist-sized and slowly oozing blood.  A CT scan performed the same day revealed a mass protruding from the duodenum across the head of the pancreas, and then into the liver - 75% of my liver.  A liver biopsy performed at the hospital a few days later resulted in a diagnosis of pancreatic islet cell NET (what Steve Jobs had). 

Within two weeks I was under the knife at a world renowned institution - hospital #4, medical team #1.  They performed the “Whipple” procedure and also removed 60% of my liver.  Their plan was to have me return in six months to have the rest removed (with no guarantee that they could).  The hospital (my third) performed a second biopsy after my surgery and refined my diagnosis to include low grade/slow-growing.  It’s worth noting that their biopsy stain testing was very basic and did NOT include those tests that would be considered “standard procedure” for those with NET.  It’s also worth noting that there was an unmistakable, willful resistance to performing anything other than surgery and recovery at this point.  My surgeon’s position was consistent, “Let’s just focus on physical recovery first – that’s the priority.”  Considering the diagnosis, that was sound advice.

A follow-up CT scan was performed three months after my surgery and they discovered that my remaining tumors had more than doubled in size (i.e. NOT slow growing).  Without any additional testing, the docs acknowledged that they were wrong and they re-diagnosed the tumor as high-grade, poorly differentiated (fast growing).  The surgeons deemed the remaining tumors inoperable and I was handed over to my oncologist for primary treatment.  I was prescribed a medication that was considered a long shot, and we concluded that I should prepare for the worst.  

Faced with a treatment plan that included nothing but “magical beans” and follow-up scans, I decided to seek treatment closer to my home at a Cancer Institute – hospital #5, medical team #2.  To be clear, this was not a search for a second opinion; just my own desire for convenience.  My new medical team immediately suggested additional minor testing to clear up some contradictions they had seen in my medical history – things that didn’t add up.  In short, they ended up, quite unintentionally, ruling out the cancer that I had been diagnosed with at the previous two hospitals.  Figuring out that I had GIST was fairly easy at that point.  How did they discover the misdiagnosis?  Not surprisingly – COMMUNICATION.  During a conference involving pathology, GI surgery, and oncology, they collectively discussed my observations as well as how/why things didn’t seem to be adding up with my medical history. 

As of October 2011 - My journey is really only 1-year old.  400mg Gleevec worked for about three months, and then progression set in.  Docs observed the slow growing new tumor for five months before prescribing 800mg Gleevec in August 2011; so far it seems to be working.  My greatest challenges have come from the complications following surgery, truly too numerous to mention here, but involving what amounts to frequent liver “failure” and sepsis from the resulting procedures to address the problems.  I went back to work for the Army in March 2011, which, for an Army lieutenant colonel, includes lots of reading, writing, and critical thinking.  No physical ailment to-date has stopped me from performing those tasks!  I take great pride in hearing from Army docs and superiors that my desire to continue working is unprecedented for a person “in your condition.”  Living life to the fullest is something I subscribed to when I joined the Army 22 years ago, so nothing has changed there.  While in uniform there isn’t much I haven’t tried or done – be it jumping from aircraft, combat, or rappelling off buildings head-first.  Home life is my alter-ego; I spend every free moment I have with my wife, my boys, my books, and my garden.  http://www.caringbridge.org/visit/markmweber if you want to follow-along on the journey.

 


Lessons Learned:

Certainly there are dozens of lessons I’ve learned in the past year about all of this cancer business, but I’ve devised a list of five key lessons that I would loved to have seen when I visited this site a year ago:

1)  Patient vs. Insurance - No one, and I mean NO ONE, is going to advocate on your behalf more than YOU.  If I’ve learned one thing during this journey it’s that the patient has to be just as involved in the process as the medical folks.  Persistence is EVERYTHING.  But – manage your expectations.  To expect a battery of tests to rule out any possible disease, or even one disease, may seem reasonable to you, but don’t be shocked when your insurance company disagrees with you.  Be frustrated, but be frustrated with a purpose.  They are a business after all and they arguably won’t be in business long if they test for everything when there is no clinical reason to do so.  What is YOUR clinical reason?  By all rights I could have demanded additional testing after my second hemorrhage to determine what was behind all that bleeding.  Clearly the ulcer medication wasn’t working, and the lack of any other GI symptoms made my condition rare enough to demand a closer look.  But I made no objective argument and I didn’t demand anything. 

2)  Docs & Hospitals (including the world-renowned ones) - There are more than a few friends, family, and docs who read my story and want to help light up some torches and grab some pitchforks for all the missteps that were made.  But to do so would be to miss the real lesson here.  Patients share responsibility for their own care; they have to meet docs in the middle.  I was hardly a good patient following my two ulcer diagnoses.  I made no effort at all to inform myself, connect the dots, or link the various doctors and institutions together to ensure the continuity of my own care.  I assumed that this was their profession and that they would ensure such coordination.  Wrong.  Ensuring that such a task is completed may arguably be the responsibility of the doctor’s office, but you just go ahead and leave it to them and watch what happens.   After I was diagnosed I could hardly stem the flow of blood screens, urine tests, or CT scans if something seemed even a remotely amiss.  But almost dying twice didn’t warrant a single test?  And even then, no one thought for once to run a stain screen (and I asked multiple times) to account for what they all acknowledged was exceptionally odd about my cancer progression?  Hindsight makes all of this look obvious…but it wasn’t.  Refer to #1 above.
 
3)  The Diagnosis and the Decisions - Get the surgery; don’t get the surgery.  Decisions, decisions.  The risks are what they are:  loss of the pylorus, the possibility of diabetes, colostomy bags, bile duct injuries, fistulas, and other massive complications following surgery.  No doc (worth their salt) can tell you what will happen when they get in there.  They just don't know how much of the pancreas, stomach, colon, or intestine they will need to take, whether they can save the pylorus, whether your bile duct will heal properly (proper = dilate and contract), and whether or not you'll develop a fistula.  Nor do I think they can predict with any degree of certainty whether or not surgery is ultimately best for GIST treatment.  The risks are just as significant for medicine-only treatments. It's all about YOU weighing the risks and picking the right doc to help you do that.  In fact, the only thing you can really control in your new found world is what doc you get, so be picky and be pushy.  It's not just your life on the line; it's your quality of life (if you live) on the line.  And even when you get "the best," know that things CAN (and probably will) go wrong.  My surgeon was cocky as hell and I loved it: five Whipples per week, 15 years under his belt, world-renowned hospital.  I sought him out and treated our meeting like a job interview for HIM.  He passed my test with flying colors … and yet, I’ve had more complications than I can list here – many of them life-threatening. 

4)  Second Opinions (theirs AND yours) - The importance of second opinions is a universal no-brainer in today’s day and age, but what I have learned is that the value of a second opinion will really only be as good as the issue highlighted above in #2 and #3 about how you’ve managed your medical information and continuity of care.  Integrated care - making sure patient, surgery, oncology, pathology, radiology, etc. are all up to speed and on the same sheet of music - is crucial for diseases with multiple twists and turns like cancer.  When integrated care works as intended, the oncologist sees the surgeon’s blind spot, the pathologist sees a crack in the oncologist’s reasoning, and the patient points out something that all of them missed in the report from the radiologist. 

5)  The Power of Perspective - Someone ALWAYS has it worse than you do.  The person who ID’s their GIST early and merely has to take Gleevec should take comfort that they still have all of their internal organs.  The person who has to wear a colostomy bag will thank God that they don’t experience the drainage tube and recurrent cholangitis of a person suffering from a bile duct injury following surgery.  Not too ironically, the person with the bile duct injury likely takes comfort that she doesn’t have to wear a colostomy bag.  The power and beauty of perspective is that every single one of us posses the opportunity to take comfort from it.  In a way, perspective helps us focus on what we have rather than what we’re missing.

 



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