Playing Hooky with a Difficult Diagnosis

An experience of living with a chronic blood cancer, called Myeloproliferative Neoplasm or Essential Thrombocythemia / Thrombocytosis.

I have a rare chronic blood cancer, called Myeloproliferative Neoplasm or MPN, a poorly-understood illness caused largely, but not wholly, by a genetic mutation that was probably with me since I was a small child. As the disease progressed, it caused fatigue, pain, diarrhea, skin irritation, brain fog, and in my case, at age 30, mini-strokes. The mini-strokes are documented, but not common, and made diagnosis difficult because it distracted doctors. My blood tests were abnormal, but as I understand it, some blood abnormalities are reasonably dismissible, and the only test for MPN at that time was a bone marrow biopsy, which is an extremely invasive procedure. A non-invasive blood test is currently available, but not so when I first became ill. So I, like others, was initially misdiagnosed with a psychogenic condition, called FND or Psychogenic Non-Epileptic Seizures (PNES). This was all very reasonable and compassionate. Treatment was psychotherapy, which of course is also very reasonable and fine, but rather than solving the problem, therapy prompted a futile and frustrating search for mental trauma: a PTSD incident that didn’t exist.

Fast forward many years later: My left arm became numb and I began seeing flashing lights in my vision. Doctors wisely performed a bone marrow biopsy, and a DNA test, which allowed them to make a definitive diagnosis of MPN. This occurred thirty years after I took to my sick bed — a very long time to be sick and not know why. That general feeling of achiness that I complained about: It felt like the flu, but it turns out it was pressure inside the marrow of my bones, something called bone pain. I had no idea. The cancerous marrow also releases histamine and cytokines into the blood causing not only ordinary sleepiness, but also inflammatory tiredness: a fatigue that sleep cannot solve. Allegra seems to help. Again, it feels like the flu — a flu that can last 30 years, and with some people, more. The cancerous pressure can scar and damage the marrow leading to myelofibrosis, or in some cases, acute leukemia. Bone marrow transplants are sometimes necessary.

I was immediately given medication, a form of chemotherapy, which lessened every symptom except for the pain, fatigue, and brain fog. However, the medication can be problematic. The pills are not supposed to touch bare skin lest I develop skin cancer, and they can cause dangerous mouth ulcers, and hair loss. I’m seeing the hair loss. But happily, the mini-strokes, for the most part, are gone, and I have confidence that I can go more than 100 days, sometimes 180, without losing the ability to walk and talk. Perhaps another time I’ll write more about that distressing, yet quickly-resolving symptom. I’ll say this: I was very surprised that numbness and flashing lights in my vision were symptoms that led to an accurate diagnosis, and yet, a mini-stroke was not. There is no single agency responsible for providing a list of differential diagnoses for doctors to consider — doctors rely on their own individual training when making a diagnosis — but if there were, I would ask all neurologists to please take a lesson from an oncologist’s textbook and add MPN to the list of differentials for patients experiencing seizure-like symptoms. That would help a lot.

Newer, better medications for MPN have just entered phase 3 clinical trials, and they look very promising, one in particular. I look forward to a day without fatigue and pain, but I’ll just have to wait 2 or 3 years because the studies are occurring in far away places. Even if I relocated, there’s no guarantee that I would receive the proper dose because nobody will know the proper dose until the trial is complete.

Most days require that I take a rather long nap, which is quite annoying, and today’s nap, I’ll share with you, dear reader, included a dream. I dreamt that I was still in school — high school I think — and unable to attend all my classes. I did well in those I attended, but sat out the others, playing “hooky,” alone by myself, wondering what would become of me for not living up to my expectations, my goals, my plans for the future.

My required naps are like those unattended classes. Thirty years of “playing hooky” have played havoc with my career and relationships. This is the tragedy that few understand except those experiencing a chronic illness. It turns out, people just move on without you, and well they should because I couldn’t and shouldn’t even try to keep up, and they couldn’t or shouldn’t be required to slow down, even if one of them is your wife. I didn’t understand this until it happened to me. No one prepared me for the possibility that I might one day get sick and then not get better. After 5 years of crawling through my days, missing work, and having people donate their vacation hours, I broke down and applied for Social Security disability benefits. Much to my surprise, after a long wait, after my divorce was finalized, I was accepted, which gave me a steady income and health insurance. And as nice as that is, I’m deeply ashamed to admit that I am “on” Social Security. I’m crying, now, as I write this. But through my tears, I must admit that I have value, from both my being and my doings. I don’t always play hooky. Sometimes I show up, and that’s a good thing. It’s hard, but I go. I play in a lovely community band, I tutored children, and I direct a church choir. I love a woman who, like me, suffers from fatigue due to heart failure, and together, we keep a well-functioning home with good cheer and much affection. Her voice sounds like music. We make a life together. I am where I belong.

If you are suffering with a chronic disease, please don’t despair. Medical science is in its infancy, and there is always something new being discovered. The cause of MPN, which affects 300,000 people in the US and millions worldwide, was not known until 2005, more than 10 years after my symptoms began. If your chronic illness is undiagnosed, or like me, you find little to no benefit to psychiatric treatment, be patient. Doctors are only “practicing” medicine, and they don’t know what they don’t know. They are, however, getting better. They got better with me. They’ll get better with you, too. Hang in there.