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essential thrombocythemia: how a racing heart led to a rare blood cancer diagnosis

in the years leading up to her diagnosis, janet pieschel experienced other symptoms like light-headedness and excruciating migraines.

by robin roberts

sep 28 2022
read time 5 minute read
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et is a myeloproliferative neoplasm
janet pieschel also has a mutation of the jak2 (janus kinase 2) gene. supplied
janet pieschel had experienced heart palpitations since her early twenties. but when the retired executive director of the calgary police foundation felt her heart racing in november of 2020, she was convinced it was something quite different.
“it wouldn’t stop and my heart rate went way up,” pieschel recalls. “after about a half-hour my husband took me to the emergency department. [doctors ran some tests and] said there was nothing wrong with my heart but my blood platelets were double the normal rate and i should get that checked out.”

she did just that a few days later when she saw her family doctor, who referred her to a hematologist. blood tests in january 2021 confirmed she had essential thrombocythemia (et), one of a group of three progressive blood cancers called myeloproliferative neoplasms (mpns), in which cells in the bone marrow that produce the blood cells develop and function abnormally . the other two include primary myelofibrosis (mf) and polycythemia vera (pv). women are more likely than men to develop et, as are people older than 60, and the reasons are not yet known.

pieschel believes the racing heart she experienced was not the only — or first — sign that something was wrong.

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john clark, who lives with polycythemia vera, a myeloproliferative neoplasm (mpn), says one of the biggest challenges for people with an mpn is access to medication. his treatment costs $60k per year.
john clark (left, with his wife, bea) was diagnosed with polycythemia vera in 1995, kicking off his involvement in patient advocacy. supplied

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“as early as 2015, i’d get periods of light-headedness, which i thought was because i hadn’t eaten breakfast,” she says. “then, in 2016, when i was hiking, my toes would start to burn for no reason, and in 2018, two or three times a month i was getting migraine headaches with an aura and they were absolutely horrible.”
that same year, she had her eyes tested. at the next visit eight months later, the doctor was surprised to find she had had significant vision loss in those ensuing months and asked if she had a medical condition. all of these are common symptoms of et.
before she was finally diagnosed, her blood platelet count had been rising steadily, but her doctor had not noticed.
“most provinces allow you to access your lab results now and they flag those that are out of range,” says pieschel. “if i had been monitoring them myself back then, i would have noticed it on my own.”

half of et patients have a jak2 mutation

pieschel says not only was she diagnosed with et, she also had a mutation of the jak2 (janus kinase 2) gene in her blood-forming cells. according to the leukemia & lymphoma society , about half of et patients have the mutation, which doesn’t appear to affect the course or nature of the disease.

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the leukemia & lymphoma society of canada (llsc)

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“there was a study at the american society of hematology last year that showed that many of these mutations happen very early in life, but we don’t know the cause,” says shireen sirhan, assistant professor, oncology, division of hematology at jewish general hospital in montreal. “since the jak 2 mutation has been identified, a lot of research in this field has been done to be able to target this mutation,”

cheryl petruk, executive director of the canadian mpn research foundation and the canadian mpn network , says research is also looking into how a person’s dna plays a role and how the mutation manifests.

“they’re even doing research in germ lines ( egg and sperm cells that join to form an embryo) to see if it’s in the sperm and the egg,” says petruk. “do you acquire it from the dna of your parents? is it mutated because of something the parent was exposed to? it’s phenomenal research because it’s giving mpn patients hope, inspiration, knowledge and education.”

younger patients mean fertility issues

sirhan notes that she’s seeing a lot of younger patients at her clinic, and that could be the result of more routine blood tests, which identify the disease early.
“the younger patients are a special group because they will be living with this disease for many years,” she says. “they have a career ahead of them, family planning issues, fertility issues, so anything we can do to maximize their quality of life is a win on our part.”

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when it comes to treating et, some patients may be asymptomatic and need no treatment, according to the mpn research foundation. others may require various treatments based on their symptoms and routine monitoring by their doctor. treatment is also determined by the patient’s platelet count, age, risk of blood clots, and general health and fitness.
therapies range from low-dose aspirin, hydroxyurea for patients over 60 and at high risk for blood clotting, anagrelide for lowering platelet counts — and usually used for those who can’t tolerate hydroxyurea — and interferon, especially for women of child-bearing age. there are also new novel therapies and treatments being developed and tested as a result of the discovery of the link between the jak2 mutation and et. pegylated interferon, a version of interferon with fewer side-effects and easier administration, is also being considered as an option for high-risk patients.
because she’s over 60, pieschel was prescribed hydroxyurea as well as low-dose aspirin.
“the hydroxyurea was amazing because all my symptoms went away,” she says adding that in the first few months of therapy she experienced a bit of brain fog. “when i was cooking dinner and using a recipe i hadn’t tried before, i’m wasn’t as focused and it was more of a production than it used to be.”

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and while her platelet count also dropped, it’s creeping back up to the top of the normal range.
“every time i have blood work, it’s gone up a little,” says pieschel. “i don’t know whether that trend is going to continue. i guess i’ll find out next time i get my blood work.”

people with et have a good chance of a normal lifespan

the mpn research foundation says those with et have an excellent chance of living out a normal lifespan if properly monitored and treated. a small minority may develop acute leukemia or myelofibrosis, which are more serious.
pieschel, who says her diagnosis doesn’t limit her everyday life, is a strong proponent of regular exercise and a good diet to ease symptoms.
“i now eat a whole food diet,” she says. “i’ve cut out processed foods for the most part and try to eat in a very healthy manner, as well as getting out walking, which makes a huge difference.”
pieschel also gets — and gives — a lot of support and information through dedicated facebook groups.
“a lot of people, when they’re first diagnosed, are in shock. i tell them they’re going to be ok, but to follow the results of their lab work — doctors have so many patients they can miss stuff,” she says, adding that she often shares the benefits of exercise as a way to cope with fatigue.

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“a lot of people who get cancer keep it quiet and don’t want to talk about their health. i do, because this is so rare and so many people go undiagnosed for a long time, so i make a point of telling people about it.”
 
robin roberts is a vancouver-based freelance writer. 
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