New diagnosis: Polycythemia Vera – A genuine myeloproliferative neoplasm!

The title of this post is New Diagnosis, but it’s not really very new anymore. I was diagnosed with PV in September 2022, and that’s when I wrote the first draft, so I’ve kept the title. Whilst I haven’t been keeping it secret, I wasn’t exactly shouting it from the rooftops either. And I really wasn’t sure how to fit it into a blog that’s all about CV I and NTBI. Though it’s really the reason I have them , of course.
But last week marked the first anniversary of my diagnosis, so I think it’s probably time to just get on and do it!

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I have struggled with health problems for over 30 years, and there has always been a suspicion that there was some underlying issue. Everyone agreed on that. When I caught anything, it always took me twice as long to recover as it did for most people.  At least, that’s what my GP always said. I also had a lot of “unexplained” illnesses and issues during those 30 years.

Sick leave

I moved to Belgium in 1991, where I worked as a teacher for almost 27 years. In 2017, after I stopped working, I received an overview of my career from the Department of Education. And what did it show? Of those nearly 27 years of service, I was at home on sick leave for a total of more than three years. Had I worked in the private sector, I think I would have been let go years ago. Fortunately, I worked for the government in a job where I was not easy to replace.

Abdominal pain

In early summer 2022, I started with pain in the abdominal area that just wouldn’t go away.

I went to the GP and she sent me to the local clinic for an ultrasound scan. Two days later, I went there with my wife. On the ultrasound, it was apparently quite difficult to see anything clearly. My abdomen was very tense due to the pain. The doctor was able to rule out some things, but she couldn’t find an obvious explanation for my symptoms.

Portal vein

At one point she was looking for the portal vein, which takes blood to the liver to be filtered, and she couldn’t find it. Fortunately, she kept up a running commentary on what she was doing, and when I heard the words “portal vein” bells started ringing. My wife had the same reaction, because in 2002 I had been admitted to the Gasthuisberg hospital in Leuven via Accident and Emergency, with a thrombosis that had blocked that very same portal vein. Back then they couldn’t find a clear cause, but on one of the scans they could also see that I had already had a series of mini-strokes, fortunately without permanent consequences. Of course, that good fortune couldn’t last forever, and 15 years later, in early 2017, I had a much more serious stroke that left me severely visually impaired.

My wife told the doctor the story, and she thought for a moment. Then, to my surprise she said, “that could very well explain the symptoms.” She immediately wrote a referral letter and told us to pack an overnight case and then go straight to Accident and Emergency.

Back into hospital

At the hospital, I was very quickly put under the scanner, and the news was not encouraging. There was indeed another thrombosis on the portal vein, and there were also three more around my intestines. So I stayed in the hospital for another ten days while the clots were cleared. They ran a whole series of tests to work out the cause. But by the time I was cleared to go home, they still hadn’t found anything. There were still some ongoing genetic tests, they said, and if they found anything, they would call me.

A week later, I received a phone call from a doctor at the hospital. He told me that they had found a particular genetic abnormality which might explain the thromboses. He didn’t want to say too much over the phone, but they wanted to see me again and do some more tests.

So, it’s now one week later. I’m on my way to Leuven again, and I wonder what they can have found.

Jak 2

As soon as we are shown in to the doctor’s office, I know it is quite serious. I am introduced to a professor, a hematologist who is a specialist in the disease they have found.

He explains that I have a JAK 2 mutation on a certain gene, and that it may be the cause of the many thromboses I’ve had. And perhaps some of the other symptoms too. Because of that mutation, my bone marrow makes too many red blood cells, which literally makes the blood thicker. This makes it harder for it to flow through the small blood vessels.

MPN

In some cases, the JAK 2 mutation leads to a group of rare cancers called MPNs (MyeloProliferative Neoplasms), all of which cause you to produce too many blood cells. For some people that will be too many white blood cells, while for others it may be red blood cells or platelets. They can see from my blood results that I have too many red blood cells, so in my case they are thinking of Polycythemia Vera, the variant with red blood cells.

These conditions are so rare that they are not well known to many doctors, and a diagnosis is often delayed. As mine was…

Looking on the bright side, he says, the outlook is actually quite positive. Most people die with this disease, he says, rather than of it.

The next step is to do a bone marrow puncture, to confirm the diagnosis.

Reactions

I can imagine that a diagnosis like this can hit you very hard if you think you are in reasonable health. But for me it was different. For more than 20 years the doctors had realised that something was wrong with me, but none of them could find a conclusive explanation. And so, for me, this diagnosis was actually more of a reassurance. It was more of a “Yes, now I finally know!”

My life had been so drastically changed by the stroke and its lasting effects, and I had learned – with difficulty – to make the best of it. During my rehab in 2017 I had seen a range of different responses to life changing health events, including some from people who gave up on rehab and couldn’t see the point of it. I said to myself then that I wanted to avoid that at all costs. I have family and friends who care about me, and I wasn’t going to put them through that.

A New Challenge

So now it’s another two weeks later, and the results of the bone marrow puncture are ready. There is a confirmed diagnosis of Polycythemia Vera. We start making plans for long-term treatment. Yet another new challenge to be faced!