← Return to My wife tested positive for jak2 and has high platelet count

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She is young. Most of us are diagnosed later in life. I was diagnosed at 69 after having an elevated, but stable platelet level since 2018. The biopsy will help the doctor determine whether she has ET or one of the other MPN diseases. They learn a lot from the appearance of the marrow samples. This is a rare disease, see a specialist if you can because GPs and even a hematologist without experience with the disease may not be that helpful. Also, the doctors can be dismissive about the symptoms once the blood counts are in acceptable ranges. The symptoms can be hard to live with. Different treatments can impact symptoms differently and you need to advocate for changes in treatment that impact symptoms too. Finally, hydroxides, or HU, is the first line treatment for ET. However, not for people who are of child bearing age. There are good patient platforms where patients share information, including some Facebook pages. One out of three UK is particularly good. Sorry, I cannot recall the name. The sites all seem to have similar names. Just search MPN and you will turn up more info. Glad she is getting bone marrow biopsy. That is a first step. Also ask for NGS genetic analysis. This screens for a whole bunch of mutations beside the JAK. It is good to have this information.

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Replies to "She is young. Most of us are diagnosed later in life. I was diagnosed at 69..."

You didn't indicate how high her platelet count was. Mine started at 1.4 million and in 2 months was brought down to 480k (our goal) with 5 days a week of 1,000 mg Hydroxy and 2 days of 500.

In my case, the Hydroxy also lowered by white and red blood cell counts so it was a juggling act to balance the dose.

I, also, am shocked at the doctor's response to high platelet count. My diabetes endocrinologist saw high platelet initially, and thought her readings were faulty. She retested and it was worse. She immediately referred me to an oncologist ay Virginia Cancer Institute.

I was diagnosed with Profibrotic Myelofibrosis and high risk (previous colon cancer, aortic valve replacement and diabetes). I have 4 mutated genes (including Jak2). I took the BMB results to the cancer center at University of Virginia and they confirmed the diagnosis.

Part of my problem is that my cancer is rare (1 in 100k) and has only been recognized since 2016. Hope this helps.