Possible MPN

Last year I suffered a haemorrhage and was very poorly. I was informed that genetic tests had been done and that I am JAK2 positive.
I am now under a haematologist and now having 3 monthly blood tests, all of which have been normal. The genetic tests show that I have underlying myeloproliferative neoplasm. I’m now thinking that this could be worse than the Polycythaemia vera (PV), Essential thrombocythemia (ET) or the worst one. I suspect they don’t know whether I have a CHIP or which Myeloproliferative neoplasms (MPN) I’m likely to develop, but a BMB has shown inconclusive. I have got in my head that i have the most serious Myeloproliferative neoplasms (MPN) and that they are not telling me everything, so as not to worry me. Why the importance of 3 monthly blood tests? My genetic tests show that I’m an Myeloproliferative neoplasms (MPN)-U. Now thinking I’m dying, which I know is ridiculous, but it’s all very scary. Anyone been through similar and does a JAK2 mutation always develop into an Myeloproliferative neoplasms (MPN)? Thanks.

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Hello @Susiewest, welcome to the forum. Glad you found us as it sounds like you’re going through a worrying time with your health.

I’m so sorry to read that you likely have an underlying Myeloproliferative neoplasms (MPN) and that you tested positive for the JAK2 gene mutation. I was diagnosed last year with an Myeloproliferative neoplasms (MPN), Polycythaemia vera (PV), after testing positive for JAK2, so can empathise with your concerns.

An issue with MPNs is that they are a closely related family of blood cancers with only slight differences in blood cell numbers that denote which diagnosis they match best. One person’s symptom-free Polycythaemia vera (PV) is diagnostically related to another person’s horrible Essential thrombocythemia (ET) side effects. I was diagnosed with Polycythaemia vera (PV) but it had aspects of Essential thrombocythemia (ET) too. Some people’s diagnoses are closer to one Myeloproliferative neoplasms (MPN) but can transform to another over time. The usual order is Essential thrombocythemia (ET) to Polycythaemia vera (PV) to MF and rarely Acute myeloid leukaemia (AML). This is not to say one is worse or more serious than another, it’s just the way research shows they tend to progress.

This is why regular blood tests need doing, to gauge any changes to blood cell numbers. Catching the changes means treatment can be changed quickly if need be. I have blood tests monthly and then if my haematocrit is above 45 % I need a pint of blood removing via phlebotomy, much like with blood donations. If you’re having blood tests every 3 months then I imagine it’s because, like you say, your CBCs show positive signs of being normal.

The JAK2 mutation is found in over 90 % of us with MPNs so is pretty indicative that we have a blood cancer. There are dozens of other gene mutations found in people with MPNs, but JAK2 is the main one that causes our blood cells to proliferate. Other signs of MPNs are found via a bone marrow biopsy and physical symptoms, like blood clot events, itchy skin, eyesight issues and many others.

It sounds like you’ve experienced a blood clot event and that’ll put you at higher risk of another clotting event, hence the frequent blood tests to check your haematocrit and other cellular signs of disease.

So I’d say it seems like you’re on active monitoring for now, from what you’ve said. Active monitoring AKA watch and wait is a form of treatment as you’ll be checked regularly for any signs of the Myeloproliferative neoplasms (MPN) changing.

While I understand that dying is on your mind, perhaps try to remind yourself that if you’re not having any medical treatments like chemotherapy or phlebotomy then you’ve likely caught your Myeloproliferative neoplasms (MPN) early. You may not need any medical intervention. It could also be that it’s early days with the diagnosis and your haematologist is still analysing test results or awaiting results. If you live nearer university hospitals or labs used for analysis then it tends to be a faster process getting results and diagnosis. Another key point to hold onto at anxious moments is that we are likely to die with our MPNs than from them. They can be lived with into normal old age and don’t necessarily shorten our lives.

So for now, keep notes of all your queries and fears, try to avoid googling this stuff, and consider asking your haematologist for further clarification. It might help alleviate some worry to be told directly by a specialist what your diagnosis is and what your care plan is.

Have a look at the great Myeloproliferative neoplasms (MPN) information here, it’s been researched by blood cancer experts.

Keep us posted about how it goes, @Susiewest.

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Hi @Susiewest and a big welcome to the forum.
I’m really glad you posted. I have a different blood cancer but some of those feelings and emotions are things we have all experienced.
I completely understand thinking the worst and I think that’s quite a natural emotion. I know I felt that way.
It is quite normal that the checks are frequent. I know for the first couple of years in my journey, they were three monthly. It’s really good that your team are keeping a check on you. However, on the flip side, I know that can cause a lot of anxiety.
I think it’s really important to write down all of your questions and that you ask them at your next appointment. I know at times, we can feel like we are making a fuss and taking up our teams time but I really urge you to ask them. Do you get the opportunity to talk through things? I wonder if you have a clinical nurse that you can contact?
I have put the link for the support line below. I found it really useful to talk things through. It may help to do this before your next appointment and talk about the questions you might ask.

Remember, no thought or feeling is ridiculous so please don’t be too hard on yourself. Its a lot of information to take in and your emotions will be up and down.
I hope others can share their experiences with you. In the meantime, please keep posting. You are not alone on this journey X

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Hi @Susiewest you already have brilliant responses from @Duncan and @Nichola75., a great big welcome.
I have a different blood cancer and I was diagnosed 20 yrs ago and I have been on regular blood tests ever since.
When I was diagnosed I came straight home and wrote my will and funeral music.
Yes, I was sure I was going to die imminently, that I would not see my son grow up, marry and have children etc.
I reckon those thoughts and the ‘what if’s’ etc. are natural and certainly not ridiculous.
You have had an enormous shock.
My emotions and thoughts have been on high alert ever since I was diagnosed and before, during and after tests and appointments.
I am ever so grateful that I am on ‘watch and wait’ or ‘active monitoring’.
Be ever so kind to yourself I think that you are doing really well by so honestly posting to us.
Please do keep posting and remember your feelings are very natural.

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Many thanks for your helpful responses. It certainly helps me feel less alone. Although I have fab husband and family, I try not to worry them and just get on with life. I had a CVST and massive brain haemorrhage, so it’s a miracle I’m still here, as it was touch and go for several days. Sadly, I’m now left with a brain injury, so had to learn to talk and write again. I have no memory of the first 6 weeks. So I’m trying to focus on how lucky I am, but the JAK2 has scared me massively. Every day is so lucky I am to have.
It seems that I’m a CHIP and the professionals can’t even tell me which Myeloproliferative neoplasms (MPN) I’m likely to develop. Last consultation I was told there are 50 genes and also an MPS which scared me massively. It’s the new me, having a new part of my brain, which has had to learn a lot. Something that really worries me is that the nurse specialist told me that they’ve never seen a case like mine in 20 years. Is it really that rare? I will try and ring your helpline one day, when all my family are out of the house. Sadly, I can’t find words, especially when tired, stressed or upset, so it might be a struggle on the phone.
Today I went for a dental treatment, which was a disaster. The drilling for a crown made we feel like my brain was going to explode, so I scared the dentist!! Just the new me.
Thanks for being there for me, as life is very scary for me. :cry:

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Yes, @Susiewest life must be very scary and unknown for you, you must have been through a massively scary time, but it appears that it has given you a great gratitude for life
You are never alone on our forum.
Please do ring the Blood Cancer UK support line on 0808 2080 888 in you need to and you feel that you are able to.
I am so glad that you have a fab husband and family.
Your dentist appointment must have been a really horrible experience for you.
Be ever so kind and look after yourself and please do keep posting

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Wow @Susiewest you have so much going on, no wonder there’s been worry! If I may be so bold, seeing as you survived that horrendous sounding brain haemorrhage, it would be stranger if you weren’t feeling anxious about your health!

Really sorry to read of the brain injury and its impacts on your talking and writing. It doesn’t show here—you’ve communicated so clearly the worries that come up for people living with these dratted blood cancers. I’m in awe that you relearnt to talk and write. Perhaps you were spared 6 weeks of horrible consciousness after what I imagine was a rather traumatising experience physically and mentally.

I like your attitude. It really can feel like luck was on our side to be diagnosed with these disorders and be able to tell the tale. One of my main motivations using this forum is to find others lucky enough to share experiences of surviving and hopefully flourishing in our own ways and to learn as much as I can. You’re not alone in this all seeming new—it’s quite the crash-course in haematology for many of us!

Unsure of the statistics but according to research MPNs really are rare and some are rarer still when they don’t match the usual diagnostic criteria, for example folks who don’t have the JAK2 gene mutation but do have an Myeloproliferative neoplasms (MPN). Dare I say it, but sometimes even GPs haven’t heard of MPNs, let alone referred patients onto the right specialists. It would seem from folks here that many have lived with MPNs for years and put the symptoms down to other ailments.

Fatigue sadly is a very common side effect of having too much blood and overactive blood production. It even has its own acronym, CRF (cancer-related fatigue) as it’s so frequently a symptom we live with. If it’s any comfort, I find when my haematocrit is lower and/or after I’ve had phlebotomy I tend to be less fatigued. The hydroxyurea I take daily helps disrupt the overproduction of blood and so I think that also reduces the fatigue. And by fatigue, I mean bone-deep exhaustion that stopped me from living actively like before my diagnosis. Thankfully that faded over a few months for me. Try to practice not letting stress get to you as it’s a big old energy drain and can worsen fatigue.

As for the dentistry, well that would be horrible on a good day, let alone after all you’ve lived with! Perhaps with future medical appointments let the specialists know what you live with and there might be ways to minimise side effects. Be mindful that your blood is misbehaving and let doctors know who might not be experts in haematology as excessive bleeding during procedures can be an issue.

Glad you’ve found the forum, I hope it can as supportive for you @Susiewest as it is for me.

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