I have a rare blood disorder. When it was diagnosed 25 years ago, it was called an “orphan disease,” meaning the small number of people affected didn’t justify research investments by major pharmaceutical companies.
Enter the World Health Organization and its 2008 decision to classify the condition as a blood “cancer.” This opened new doors for disease investigation and understanding. It prompted a growing number of super specialist practitioners, and most important, hope for some 300,000 people living in the United States with what are now called myeloproliferative neoplasms, or MPNs.
Nobody likes to hear a cancer diagnosis, particularly for a disease they thought was benign. In fact, when I first saw my blood disorder referred to as a cancer, I wrote to the MPN Research Foundation, a nonprofit research and advocacy group, and suggested they remove the “Big C” word from their website. How, I thought, could they be so misleading?
That’s when I discovered I was behind the times. MPNs were indeed reclassified as a malignant condition of the bone marrow, affecting sometimes one, two or all three types of blood cells: white cells, red cells and platelets.
The average age people are diagnosed with an MPN is 60-something. My diagnosis came at age 38. For the next 15 years, I was treated for essential thrombocythemia, a type of MPN that caused my bone marrow to produce significantly higher than normal numbers of platelets. The proliferation of platelets put me at risk for dangerous clots and ultimately led to complete blockages of two important veins of the portal system, which carries blood to the liver.
The Big C label began to look like good news.
Once MPNs were classified as blood cancers — including essential thrombocythemia, polycythemia vera and myelofibrosis — interest grew from research laboratories, major medical centers, and small and mega pharmaceutical companies, which now saw these rare and poorly understood conditions as an opportunity. Perhaps pieces to the MPN puzzle could shed light on more common blood cancers, like leukemia and lymphoma. And perhaps treatments for those widely studied cancers could be used to treat MPNs.
“The cancer designation did open up significant new funding opportunities, for example from the National Cancer Institute,” said Barbara Van Husen, board chair of the MPN Research Foundation. “It has definitely accelerated research.” There are more than 200 clinical trials underway for various MPNs, as well as ongoing research into stem cell transplantation, currently the only potential cure for these rare cancers.
In my case, for reasons researchers are working to understand, my bone marrow flipped a switch. I was no longer making excessive platelets. Instead I was producing too many red cells and was given a revised diagnosis of polycythemia vera, a distinctly different MPN. I went for regular phlebotomies, the modern version of bloodletting in which pints of my blood were drained into a collection bag to reduce blood volume. Think blood transfusion, reversed.
Doctors increased the dose of the 30-year-old chemotherapy drug I had been taking since my blood clots first appeared. The drug is still considered standard of care “if well tolerated.” It effectively adjusted my red counts. Unlike newer, more targeted drugs, however, it does not discriminate, potentially killing off not just red cells but white cells and platelets as well.
I continued to live a full and largely unaffected life, though I often suffered symptoms such as debilitating headaches and bone pain.
The hallmark fatigue of these blood disorders was not yet on my radar. I hiked. I cycled. I traveled. I was a night owl typically functioning “well” on five to six hours of sleep.
Then, in September of 2019, my summer bike rides became an exhausting effort. By October, I was so fatigued that walking up a slightly inclined sidewalk had me leaning on a lamppost to catch my breath. Doctors identified scarring (“fibrosis”) in my bone marrow, elevating my diagnosis once again, to the third evolution of my MPN journey, myelofibrosis.
“You’re a poster child for exploring new drug therapies for MPNs,” Dr. Ellen Ritchie, of Weill Cornell Medical Center in Manhattan, recently told me. Just seven months into my participation in a global phase 2 clinical trial for a new combination drug therapy, tests indicated significant, measurable improvement. It appears my disease is beginning to reverse.
More than two decades after my first of many bone marrow biopsies, I have more energy than many of the “healthy” people I know.
We tend to think of cancer as acute. Get it out quickly, go through treatments, prevent it from spreading. But for those with a chronic cancer like an MPN, there isn’t a distinctive beginning, middle and end. It can be overwhelming, emotionally exhausting, and even as we learn more about the disease, full of uncertainty.
“Often, individuals with a chronic illness, like cancer, are more challenged to be hopeful about their future, while also needing to be focused on thriving on a daily basis,” says Laura Kaplan, a licensed clinical social worker whose Connecticut practice helps people navigate serious illness. “It is important for their identity and quality of life to try to keep a good perspective about living with the process of their disease.”
For years, I chose not to let my condition define me. I chose not to identify myself as someone living with cancer. I would simply live my life fully, day to day. I would work hard and play hard, enjoy raising my two boys, deal with whatever challenged my health, and keep on moving. That approach continues to serve me well.
Ruth Fein Revell, a health and environment writer, serves on a patient advisory board of the MPN Research Foundation.
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