A Patient’s Journey With Essential Thrombocythemia and Polycythemia Vera

Nona Baker, Co-Chair of MPN Voice and patient, discusses her journey with essential thrombocythemia (ET) and polycythemia vera (PV), including diagnosis and treatment. ET is a condition characterized by an overproduction of platelets. Abnormal blood clotting is common in these patients and may cause strokes or temporary stroke-like episodes, leg pain, swelling, pulmonary embolism, chest pain and difficulty breathing. A paradoxical problem in ET is abnormal bleeding, such as excessive nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. Other signs and symptoms include splenomegaly, weakness, headaches, or a sensation in the skin of burning, tingling, or prickling. Some people with ET have episodes of severe pain, redness, and swelling, which commonly occur in the hands and feet. PV is a condition characterized by an increased production of red blood cells. Affected people may also have excess white blood cells and platelets. The excess cell levels lead to thicker blood and increased risk for serious thrombotic events and stroke. PV occurs more frequently in men than it does in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Both conditions are considered myeloproliferative neoplasms (MPNs). Ms. Baker’s symptoms first presented as painful feet/legs and extreme fatigue. After bouncing a few doctors who gave her orthopedic insoles and believed she had an alcohol problem, a retest of her bloodwork led to a hematology referral. She was finally diagnosed with essential thrombocythemia (ET) in 1991 and polycythemia vera (PV) in 2004, a time where information on these disorders was scarce. At the time, she was told she had 15 years to live. She notes that her story is similar to a lot of other patients. After diagnosis, Ms. Baker was first treated with a chemotherapy pill and regular venesections. Now, she goes every 8-9 weeks for monitoring and receives treatment whenever her levels become unstable. However, side effects from the medications have caused skin problems, including actinic keratosis and, more recently, basal-cell carcinomas. This highlights the need for further research and treatment options for patients with ET and PV. Ms. Baker stresses that education is key. The more people are aware of MPNs, and know what signs to look for, the faster patients can be referred to hematologists and receive an earlier diagnosis. MPN Voice works to increase education through their mission to provide clear and accurate information and emotional support to everyone who has been diagnosed with an MPN and their families/friends. The organization’s “Buddy Programme” connects newly diagnosed patients with those who have already gone through the challenges of diagnosis and beginning treatment. To learn more about MPNs and other rare hematologic disorders, visit https://checkrare.com/diseases/hematologic-disorders/ **Rare Discussions is produced by CheckRare**, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community. Explore additional physician interviews, podcasts, CME activities, and rare disease resources at **CheckRare.com**. Subscribe to the **CheckRare Podcast Network** for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community. Part of the **CheckRare Podcast Network**: Trusted conversations, news, education, and expert insights across the rare disease community.