Hello, I understand you are unable to give medical advice. Just here to see if I can gain a little more understanding. I have had a steady raise in platelets since last year (410/449/494). My B12 levels are also very high and have been for a few years (no injections). Also, I have tinnitus, tingly fingers, headaches, tiredness. When my GP spoke to a haematologist they were not overly concerned. However, as my mum has Essential thrombocythemia (ET)/Polycythaemia vera (PV) and is positive for JAK2, I thought I would book a private JAK2 blood test. (From my understanding, it is not hereditary but I thought I would do this anyway). I have now received my result and I am JAK2 positive. Now I am panicking. And also highly anxious. If you test positive for JAK2, does this mean you most definitely have a blood disorder. I understand I need to speak to a haematologist again and have an appointment booked, but I am feeling so very confused and worried. I wondered if anyone else has had this experience. With thanks in advance for any support you can offer.
Hi @Cle a great big welcome to our forum.
I hope others will be able to share their experiences
The not knowing and waiting really takes the toll on me to.
My handy hints would be to be pleasantly assertive and ask for answers in plain English at appointments.
This time will give you the opportunity to write down all your symptoms, fears, questions and practicalities.
Please do let us know how you get on and be very kind to and really look after yourself
Hello there @Cle, welcome to the forum. I’m glad you found us, although I’m sorry you had reason to.
In 2023 I was also found to have the JAK2 gene mutation and it led to my being diagnosed with Polycythaemia vera (PV). I’d never heard of Polycythaemia vera (PV), but a close family member had been recently diagnosed with Essential thrombocythemia (ET) and had the JAK2 mutation which led me to get tested for it too.
My haematologists have told me, like you say, that these gene mutations aren’t hereditary—except in very rare situations. What’s more likely, I was told, is that if close relatives have the same gene mutation then it’s probably triggered by something carcinogenic in the environment. My current excellent haematologist asked if my parents smoked during my childhood, which they did, but he didn’t say this was a definite link.
So you’ve got an appointment coming up with a haematologist and you’ve joined the forum, both of which will no doubt help clarify what could be behind your worries. In the meantime I imagine the waiting might feel very anxiety-provoking so I hope you have loved ones to lean on, and maybe some healthy distractions.
I’d say try not to google all this as there’s just a lot of outdated generalised nonsense online about JAK2 gene mutations. But if you do search for information try to stick to official blood cancer organisations like this one.
Do please let us know how you get on @Cle and what comes of this JAK2 diagnosis you’re contending with.