I always considered myself to be healthy and 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. However for many years I suffered from annoying and seemingly unrelated symptoms including headaches with occasional spots in my peripheral vision, intermittently sore, peeling hands and feet, and gastrointestinal symptoms. I dismissed the headaches as migraines, took paracetamol and managed the other symptoms as best I could.
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 have 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 (initially training as a nurse then as a dietitian) I had never heard of essential thrombocythemia or myeloproliferative neoplasms (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 (ET).
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 I sat down at my computer and consulted ‘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 the possibility to progressing and I needing a stem cell transplant. 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, and that this was an indolent condition that was unlikely to affect my life expectancy, however 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 that had the potential to progress, and with the dichotomy of now being both a clinician and a patient.
Twelve months after my ET diagnosis, in addition to elevated platelets I noticed my haemoglobin (Hb) and haematocrit gradually increase above reference ranges, as did my white blood cell count. I have always had an adequate haemoglobin level of around 140mg/L, and even when I had my two children I was never been anaemic. I considered this evidence that my diet provided enough iron and as a dietitian, I took the credit for this! I now realized my high Hb was the result of my JAK2V617F positive 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 difficulty concentrating.
Over the next year, as I read more on MPNs I began to suspect I actually had polycythaemia vera (PV), rather than ET. Two years after my MPN diagnosis my haematologist confirmed I had PV and explained that despite my low cardiovascular disease risk factors, my symptoms indicated I needed cytoreductive treatment. I was prescribed venesection and given the choice of treatment with the chemotherapeutic agent Hydroxycarbamide (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 Roferon® IFN, in the hope this would be a better treatment to control my disease long term, however I worried about whether I would tolerate it as Roferon® has notoriously unpleasant side effects. (At this time Pegasys®, the slow release, better tolerated form of IFN was not on the PBS for MPN and was only available ‘off label’ at a cost of about AUD$500.00 per weekly dose).
Three months after my PV diagnosis I travelled from Melbourne to Arizona to attend the 2011 Joyce Niblack Memorial Conference on the Myeoloproliferative Disorders at the Mayo Clinic in Scottsdale Arizona. At the conference I learned about a clinical trial with Pegasys® for PV that showed this drug was better tolerated than the original formulation of IFN, Roferon® and was effective in controlling blood counts and reducing the JAK2V617F allele burden.
On the plane trip home from the Mayo Clinic MPN conference I decided to try to get Pegasys® onto the PBS for MPN in Australia. Over the next seven years I travelled to medical conferences and advocated for MPN patients with Roche and the Government, asking for the PBS listing for Pegasys® to be expanded to include treatment of MPN. This led to Pegasys becoming available on the PBS for MPN on 1 August 2018, in Australia’s first consumer-led PBS drug listing. This was also the first government approved Pegasys® listing for MPN to occur worldwide!
I was treated with Roferon® for nearly 2 years but suffered all the typical adverse side effects – ‘flu-like symptoms, headaches, fatigue, hair loss etc. I reported my adverse side effects to Roche and in late 2012, the company offered me Pegasys® on compassionate access. I immediately felt better on Pegasys® and the adverse side effects I had suffered on Roferon® diminished. This encouraged me to continue trying to get Pegasys® onto the PBS for treatment of MPN.
The breakthrough in my advocacy for Pegasys started in 2016 when I was invited to the Rare Cancers Australia CanForum in Canberra, as a consumer representative with the Leukaemia Foundation. At the CanForum I spoke with Prof. Andrew Wilson, Chair of the Pharmaceutical Benefits Advisory Committee (PBAC), (whose role is decide whether, and if so how, medicines are subsidised by the Australian PBS) about the unmet need for Pegasys® to treat MPN.
This discussion led to me writing a submission directly to Prof. Wilson, seeking the expansion of the PBS listing of Pegasys® to include MPN. In my submission I included information on my own experience with both types of IFN, (Roferon® and Pegasys®) and my better tolerance of Pegasys®. I also included references to peer reviewed medical literature with evidence of safety and efficacy of Pegasys® in MPN.
After my submission was accepted by the PBAC for consideration in January 2017, I contacted haematologists around Australia, the Leukaemia Foundation and Rare Cancers Australia, seeking support to get approval of Pegasys® for MPN on the PBS. These groups subsequently submitted correspondence to the PBAC confirming a clinical need for Pegasys® to treat MPN.
Around this time, I joined MPN Alliance Australia (MPN AA) as a volunteer administration member. My MPN AA colleagues and I used social media to encourage MPN patients around Australia to contribute comments via the Consumer Comments facility on the PBS website. This resulted 79 individual consumer comments, stating why they wanted Pegasys® on the PBS for MPN and what this change would mean to them in terms of quality of life.
Although the PBAC recognised a clinical need for Pegasys® in MPN and knew it was safe long term with low toxicity, after a decade of experience with Chronic Hepatitis B and C treatment, the path to approval was not simple.
Firstly, Pegasys® did not have Therapeutic Goods Administration (TGA) approval for MPN. TGA approval for a specific disease indication is usually required before a drug company can make a PBAC submission. Secondly, no Australian clinical trials had been conducted for Pegasys® in MPN, another usual PBAC requirement for drug submissions.
Additionally, Roche had no plans to write a submission for PBS listing of Pegasys® for MPN, because the drug was considered ‘old’ and was close to coming off patent. In this exceptional case, the PBAC requested Roche lodge a minor submission for PBS listing of Pegasys® for MPN, in response to my consumer submission.
During 2017, the PBAC worked with Roche, Rare Cancers Australia, haematologists and the Leukaemia Foundation on the issue of access to Pegasys® for MPN. In the meantime, I continued discussions with Roche on the matter.
Just before the December 2017 holiday season, I received a phone call from Roche saying the PBAC had recommended amendment of the then current PBS listing for Pegasys, to an unrestricted benefit listing, which would enable people with MPN PBS access to this medicine.
The next step was for the government and Roche to finalise price negotiations, before doctors could prescribe Pegasys® for their MPN patients at the PBS price of AUD$39.50 (or AUD$6.40 for concessional patients). The MPN AA was delighted to share this wonderful news with the MPN community!
In July 2018, I was invited and together with fellow MPN AA member Ken Young attended the Health Minister’s announcement that Pegasys® and also three other cancer drugs that would be available to patients on the PBS from 1 August 2018.
The achievement to list Pegasys® on the PBS for MPN in Australia demonstrates the power of consumer advocacy and networking, and the importance of collaboration between consumers, the medical community, the pharmaceutical industry and government.
It is now ten years since my MPN diagnosis and my PV is well controlled on IFN treatment, having started on Roferon® initially for nearly two years, before using Pegasys® for the last six years. Incidentally, all the seemingly unrelated symptoms that I had experienced before my MPN diagnosis resolved once my blood counts normalized, so I conclude they were associated with having an MPN.
As a health professional and someone who had always considered myself to have good health, my diagnosis reminds me that we all have health challenges sooner or later. I hope my experiences as a patient make me a more empathetic and better clinician with my own patients.