by Nathalie Cook
Over the past 10 or so years, I developed increasingly frequent headaches and occasional spots in my peripheral vision.
As a busy mother I dismissed them as migraines, took paracetamol and kept going. I always considered myself to have good genes for longevity with both my paternal grandmother and my maternal grandfather living to 98 years of age, enjoying a lifetime of good health.
One day I was encouraging my husband to get his cholesterol and blood glucose checked He said he would follow up on this once I had my headaches looked into. I thought my headaches were nothing to worry about so I didn’t rush off to the doctor immediately. It wasn’t until a few weeks later when I was writing in a patient’s file at work that my vision suddenly became blurry and it was like I was looking through water.
This made me take notice and I immediately phoned my General Practitioner (GP), fearing I was having a stroke. After having a CT brain scan, an eye exam and a full blood count, my GP phoned to tell me my platelets were “up a bit” and he wanted to repeat the test in a month. As he knew we were about to go on a family vacation he told me not to worry, to enjoy our trip and to come back for another blood test on our return. I thought nothing more of the elevated platelet count and we enjoyed our vacation.
In my 25 years plus as a health professional I had never heard of essential thrombocythemia (ET) or myeloproliferative neoplaspms (MPNs). A couple of months after we returned from our vacation my GP sent me a reminder letter urging me to have the blood count repeated, which I eventually did. I was in shock when I was given a referral to a haematologist, with a provisional diagnosis of essential thrombocythemia.
My first thought was “Oh no, I’m going to be the patient of a haematologist!” I remembered about six years previously when my husband and I were attending my work end of year function and over dinner I asked my colleague’s husband about his work. He jokingly replied, ” I’m a Haematologist, you never want to be my patient!”
I drove home from my GP appointment that day with these words spinning in my head, and when I got home jumped straight onto my computer to consult Dr Google. By the time my husband returned home from work that evening I had thoroughly petrified myself with information on ET, myelofibrosis (MF) and MPNs. When my haematology appointment came around I was not surprised when I was sent to have a bone marrow biopsy.
My BMB report confirmed I had a Philadelphia chromosome negative myeloproliferative neoplasm and was positive for the JAK2V617F mutation.
I was told the most likely diagnosis was essential thrombocythemia, an indolent condition that was unlikely to affect my life expectancy, but I was advised to take a 100mg Aspirin daily, to reduce the risk of blood clots. Despite this attempted reassurance, I struggled to come to terms with my new identity as a patient with a chronic disease, and with the dichotomy of now being both a clinician and a patient.
Twelve months after my ET diagnosis I changed haematologists. Over the next 12 months in addition to elevated platelets I watched as my haemogloblin (Hb) and haematocrit gradually increased, as did my white blood cell count. I have always had a respectable haemoglobin level of around 140mg/L, and even when I had my children I have never been anaemic. As a nutritionist I considered this evidence that my diet provided an adequate iron intake and took the credit for this! I now realized my high Hb was the result of my positive JAK2 mutational status, not the adequacy of my diet!
During this time I felt itchy, especially after a shower, was constantly tired, had tingling, aching muscles, dizziness when I turned my head too quickly and had difficulty concentrating.
As I read more on MPNs I started to suspect my ET was actually PV and 2.5 years after my ET diagnosis, my current haematologist confirmed I actually had PV, not ET. He explained that despite my low cardiovascular disease risk factors, my symptoms indicated the need to commence cytoreductive treatment. He ordered venesection and gave me the choice of treatment with the chemotherapeutic agent Hydroxyurea (HU) or the immune modulator Interferon (IFN). Over the next few days I trawled the internet, reading everything I could ‘get my hands’ on regarding MPN treatment, to decide what treatment I should take long term.
I drew up a table with columns summarizing the pros and cons of HU verses IFN for MPNs. This resulted in a confusing list of possible benefits and adverse effects of each drug. After deliberating, I remembered my haematologist’s advice that they were both genuine options for me so I went with my ‘gut feeling.’ I decided to start HU initially, to get my blood counts back down to safer levels, before trying IFN, in the hope this would suit me long term. (Currently in Australia Pegasys which is reported to be better tolerated, is not available for prescription to MPN patients).
Three months after my PV diagnosis I travelled from Australia to Arizona to attend the 2011 Joyce Niblack Memorial Conference on the Myeoloproliferative Disorders at the Mayo Clinic in Scottsdale. I returned home feeling empowered by the knowledge I had gained and comforted by the generous advice of the eminent MPN physicians, some of whom I was lucky enough to speak with in person. I was welcomed by warm hospitality of physicians and delegates alike and encouraged by the support I experienced in meeting fellow MPN patients. Attending the conference helped me to feel more optimistic about the future, knowing there is an international team of physician-scientists working tenaciously to elucidate the pathogenesis of MPNs; so better treatments can be developed and trialed.
Two years after my PV diagnosis I am on Roferon-A Interferon after juggling various doses of IFN and HU for the first 18 months. I still require the occasional venesection and struggle with the side effects of IFN and the symptoms of my MPN in general, both physically and psychologically.
In one way my diagnosis has been a gift because It reminds me that we all have health challenges sooner or later and I hope my experiences make me a more empathetic clinician with my patients. Like many MPN patients reading haematology journals has become my new hobby/obsession (there is a fine line!).
© Nathalie Cook and MPNforum.com, 2012. Unauthorized use and/or duplication of this material without express and written permission from this blog’s author and/or owner is strictly prohibited. Excerpts and links may be used, provided that full and clear credit is given to Nathalie Cook and MPNforum.com with appropriate and specific direction to the original content.
Comments on: "Nathalie’s discovery" (2)
Thanks for writing of your experience. I too had a diagnosis of PV last April, and can really relate to all you have said. So far I have had venesections only, and my counts are slightly high but good, with a hematocrit of 42. I am 67 years old and get very fatigued. I had never heard of any of these disease of MPNs before this. Hope you are keeping well Cheers.
Yes, thanks for your story. I was PV for 15 yrs with phlebotomy-only (venesection) therapy for several years. Then I was placed on 500 mg’s Hydrea for treatment as my arm veins started breaking down. While on the Hydrea, I still had the occasional bleed. I have now progressed to myelofibrosis and am doing well on 1500 mg’s hydrea. My doc and head of hematology decided NOT to place me on ruxo (the Jakafi new drug) as I responded so well to hydrea and that the ruxo would be entirely too toxic for me. That was a year ago and i am holding strong on this treatment protocol. I am 62. During the progression from PV to MF, my spleen did give me a problem growing in size to 25.4 cm’s. There was a lot of discomfort associated with that! But the spleen was shrunk back down to 18 cm’s on the 1500 mg’s HU and I am very grateful. I keep a very happy and positive attitude and my doc calls me his “trophy spleen” patient!
Best wishes to you,
mimi of Southeast Louisiana