Rare Disease Day is aptly observed every year on Feb. 28 or Feb. 29 for a rare leap year and is a time to spotlight those who battle and live with rare diseases.
I will never forget the day I nervously sat in a waiting room designated for hematology/oncology. My family doctor referred me following routine blood tests as part of my yearly physical. Further blood work indicated that I tested positive for a particular gene mutation and that I have a myeloproliferative neoplasm (MPN), a group of rare blood cancers typically characterized by the overproduction of blood cells in the bone marrow.
One of the million things running through my freaked-out mind was, “How on earth did I get this MPN?” Several scientific documents point to some environmental impact or long-term noxious exposure. I wondered if my mom’s treasured but highly corroded aluminum pots in which she lovingly cooked so many chicken soups, and briskets delivered something more than comfort.
I received no real answers because the causes for an MPN diagnosis remain elusive. A few perplexing findings have pointed to a higher incidence of some types of MPNs in Ashkenazi Jews, particularly those from Eastern and Central Europe. I always knew I inherited a certain sadness from my mother, a Holocaust survivor from Poland, and a definite guilt gene. Still, l never thought my ancestry could be connected to my blood-related illness.
MPNs typically tend to be an older person’s condition (sadly true in my case, but isn’t 60 the new 40?), although they can occur in younger adults. I have an MPN known as polycythemia vera (PV), resulting in elevated red cell mass.
As I sat in the chair in shock, I felt even more dismayed when my doctor rattled off several questions concerning any strange and unusual symptoms I might be experiencing. For instance, do I have any itchy skin following my shower? What about any visual disturbances, fatigue, shortness of breath, headaches or sweating, especially at night? Couldn’t some of these also be associated with being a post-menopausal woman? Suddenly, I started hyperventilating and perspiring!
My doctor saw my anxious reaction as he provided more details about my diagnosis and tried to assuage my fears by telling me that the famed movie Love Story, where the main character tragically dies of an undisclosed terminal blood disease, gave all blood cancers a scary, fatal prospect.
This anecdote did not soften the blow, but I appreciated the doctor’s attempt to inform me that blood-related cancers are significantly more survivable today.
While my doctor tried to assure me that it was possible to live an expected lifespan, he was also blunt, telling me there are no cures or remission with an MPN. There is also the risk that an MPN diagnosis might progress to other cancers, particularly acute myeloid leukemia. Unfortunately, doctors do not know why MPNs transform into something more severe in some patients but not in others.
Treatment options depend on your specific MPN and the severity of the symptoms. My current cocktail consists of a low-dose aspirin and a tolerated, but not without its drawbacks, chemotherapy drug to reduce cell growth rate.
As I absorb all the data on MPNs, I hope my story reminds everyone, especially women of a certain age, to prioritize their well-being and insist on annual check-ups, which can identify and treat health issues before they worsen.
In the meantime, I hope we continue to advocate for better recognition of these rare conditions and diseases and keep working together, pushing for easier access to a family physician, equitable healthcare services, more diagnostic tools, clinical trials, and ongoing vital research.
A global effort to expedite rare disease treatments and, ultimately to discover a cure would be the kind of movie ending I would happily endorse!
Wendy Reichental is currently enjoying her second act as a registered reflexology therapist in Montreal.