It can be a long, winding road for a patient to receive the exact diagnosis of polycythemia vera (PV), and possibly an even lengthier stretch of time to cross paths with someone who has the same condition.
But actress Finola Hughes is hoping to bridge patients with PV together to ensure that they are not in isolation — 100,000 patients in the United States have the disease — and make the public aware of PV and other myeloproliferative neoplasms (MPNs).
“The most important thing to know is that you’re not alone,” she said in an interview with CURE. “If you have been diagnosed with this rare blood cancer, there are other people out there that you will find.”
Hughes, an Emmy award-winning actress who portrays the fierce Anna Devane on ABC’s “General Hospital” (GH), has spent the last several days spreading the word about PV ahead of Rare Disease Day on February 28. Devane was recently diagnosed with PV, bringing awareness of the rare condition to daytime television.
“My character is a very strong character,” Hughes explained. “She’s a career woman and an ex-police commissioner and now a [World Security Bureau] agent. I think it’s a really wonderful platform to see Anna deal with this kind of diagnosis of PV, and how that’s going to impact her life moving forward. For me, to be given the opportunity to raise awareness of these rare blood cancers —these MPNs — it was very heartening and inspiring.”
To prepare for the deep storyline, Hughes dug into resources such as VoicesofMPN.com, but drew most of her inspiration from a patient who has battled PV for nearly 10 years. Reflecting on the encounter, Hughes called her a remarkable, strong and extraordinary woman who had resilience and a tight support group who weathered her way through a PV diagnosis.
“It was very important for me to understand how she felt,” said Hughes of portraying a patient with cancer. “Acting is all about trying to resonate with an audience, and it is all about feelings. Those kinds of aspects were very important. I asked a lot of questions of this woman about how she felt, what her symptoms were like and what those symptoms felt like, so that I would be able to portray them. For me, the main thing was understanding what this patient had been through and how long it took for her to be diagnosed, and how sometimes those symptoms can be masked. You do go awhile before you do get diagnosed.”
Symptoms, or lack thereof, are one of the major obstacles to diagnosing PV, explains Ellen K. Ritchie, M.D., an assistant professor of medicine and a member of the Leukemia Program at Weill Cornell Medicine.
“They’re very distressing symptoms for a lot of patients: chronic fatigue, headaches, dizziness, night sweats or sometimes total body itchiness that really can interfere with their enjoyment with day-to-day living,” Ritchie explained. “Imagine if you’re itching all of the time; you’re not a very happy person. Patients may believe that it’s due to something else and are delayed in going to a doctor. Usually an abnormal blood count is found when they go to a doctor, and they’re sent to a hematologist for further evaluation, where we do molecular testing and a bone marrow biopsy to make a diagnosis of the disease.”
But patients are asymptomatic at diagnosis, too, she added. Commonly, a patient could go in for surgery or a routine doctor’s appointment and are then discovered to have an abnormal blood count.
An Incurable, Yet Evolving Area
While PV remains an incurable, yet chronic disease, Ritchie added, the landscape of PV has expanded over the last 10 years with emerging treatment options and increasing scientific interest.
“A mutation was found in a gene called JAK2, which is common to almost all patients who have PV,” said Ritchie. “With the discovery of this gene, there have been avenues for new treatment and the exploration of new treatment modalities for the disease.”
In December 2014, the Food and Drug Administration approved Jakafi (ruxotlitinib), a JAK1/2 inhibitor, as the first novel agent for the treatment of patients with PV who don’t respond to or cannot tolerate hydroxyurea. Other therapy options include phlebotomy and interferon.
“There are a lot of exciting drugs that are under exploration — not really for PV as much as when the disease progresses to something more severe, like myelofibrosis,” Ritchie said. “That can be done to improve the worsening symptoms that patients may have as they reach that trajectory. Certainly, with the advent of the discovery of the JAK2 mutation, there are medications that target JAK2 that are currently on the market and it’s very exciting for patients.”
But much work is still to be done, and raising awareness for PV is a start. Ritchie hopes the PV spotlight on GH will bring comfort to patients and their families, to assure them that a larger community is showing interest in the disease.
“Patients who have it really feel that they’re relatively isolated,” said Ritchie. “My patients are lucky because they run into other patients with PV in the waiting room. But, in general, it’s a very rare disease and the ability to shed some light on it is very important. As the population ages, it’s possible that some of these MPNs and myelodysplastic syndromes will be more frequent in the older population. So, it’s important to shed some light on these diseases.”
And as Devane begins her fight through a challenging and ongoing journey with PV, Hughes emphasized the importance “to try to understand and perhaps do my little bit to bring awareness to this — and maybe help people feel that they’re not alone.”
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