I have JAK2 ET and MPN: Anyone else have these symptoms?

@birgitr
Birgit, I'm not as experienced as Lori and some of the others as I was only diagnosed with JAK2 ET in April 2025 (from tests; no symptoms so far), but I'll share what my hematologist/oncologist said to me in hopes it will provide some reassurances. (If I've already done this please excuse. I've replied to several different discussions of ET on the Mayo forums!) Of course everyone's bodies are different but from the many things I've read about ET my doctor's comments seem reasonable and in line with others'. Hopefully you have good communication with your specialist.

He said the cause of the gene mutation is not known and they don't know how to prevent it. He said it is not passed to my children and I didn't do anything to cause it. They can't cure ET but it can be managed. He said many people live normal life spans with the disease. He also said in rare cases it can change into a form of leukemia, but there is no known way to affect that and if it should happen we'll treat that at that time. I think he said the chance is only about 5% for eventually progressing to leukemia. ET occasionally also progresses to the marrow condition (fibrosis?) some have mentioned but it usually does not. (I'll cross those bridges if I ever come to them. In the meantime I'm not worrying about them.) Also, he said ET is technically a form of blood cancer (because it involves uncontrolled growth of cells), but it is not a cancer that spreads to other parts of your body nor forms tumors. He said he prefers to call it a blood disorder, and I do, too. I think until fairly recently it may have been classified as a blood disorder.

He told me the main danger from ET is that a very high platelet count might cause blood clots which can cause a stroke or heart attack, so preventing that is the goal. He said the focus is on keeping the platelet count in an acceptable range. He also advised me to take a low-dose 81 mg coated aspirin daily to make the platelets more slippery and less likely to clot. He said because of my age (77 at the time of diagnosis) and family history I'm already at a higher risk for strokes and heart attacks. Often younger people with ET are only monitored for awhile with no intervention.

He also said if my platelet count got above 600,000 he would prescribe hydroxyurea (HU) to lower my platelet count. This month my count reached that for the first time and I have been on HU, one 500mg capsule daily, for almost two weeks. I'm not experiencing any side effects from it so far, although it's early in my treatment. He told me this is a chemo pill, but one that is tolerated well by most people, so not to let "chemo pill" scare me. It doesn't make all your hair fall out nor cause nausea and vomiting in most people, especially at the doses commonly given for ET. (Many children with sickle cell disease take it safely for decades.) He said for most people it is simply "a pill you take."

I'll go back in a few weeks for another blood count. He said HU can also decrease red and white cell counts, which I don't need because those are fine, so dosing may be a balancing act. I asked him if I could start with a low dose, and he said 500mg a day is a low dose.

He is very patient, answers all my questions, and has presented my new disease in an optimistic light. I'm thinking of it as an unwanted chronic condition that will have to be managed from now on, such as things like high blood pressure, kidney disorders, etc. I wasn't happy to get the diagnosis but I'm very thankful that I can live my daily life with no detectable symptoms so far. I feel very blessed and am thankful treatments exist to help with controlling this condition. My faith in God is also a huge comfort and strength for me. I go about my daily life as usual and don't dwell on my ET. I focus on positive things and all my blessings.

In all the research I've read, HU seems to be the accepted first line of treatment for ET and the one with fewest side effects for most people. Therefore I have no reason nor desire to ask him about alternate medications at this point. If a problem develops later we can discuss that then.

My primary care physician increased the aspirin to two low-dose a day because of another health concern. The only other change I've added is that I am taking a low over the counter folic acid supplement, after reading that several hematologists recommended to others with ET that folic acid can help protect red blood cells. I forgot to mention that to my doctor but I will.

Of course healthy lifestyle habits such as good nutrition, drinking lots of water, and exercise help our health overall, but I've run across nothing that is going to be a treatment or cure for ET, unfortunately. It needs to be managed by a competent doctor if platelet levels are too high.

Sorry for the length of this post, but all these things are why I'm not overly worried or stressed about my diagnosis. I hope the information will be somewhat helpful and comforting to you as well. As suggested, it may be good to ask your hematologist about your concerns.

Prayers and best wishes for a good outcome for all of us here!

My husband was diagnosed with primary Myelofibrosis with JAK2 mutation last June. Has anyone looked into Benzene as a cause? My husband was a dairyman and used chemicals a lot through the years. Also, anyone experience bad circulation (cold hands and feet?)

Hi @birgitr We’re kind of veering off the subject of ET here…so just a quickie. I’m so happy to hear you and your husband are both embracing the positive affirmation process! ☺️ I have no method that I follow. Just a quote I read 40 years ago inspired me to change my thoughts and voila! It worked and has driven me further into the subject of controlling our thought patterns for a better outcome.
Maybe we should start a new discussion called the Power of Positive Thinking! ☺️ If you’d like to encourage others along your journey, you could start it here in the group discussion “Just want to talk” https://connect.mayoclinic.org/group/other/
What do you think about that idea?

@loribmt For sure i gonna keep you in the loop. However it isn’t a one way path , I honestly hope you will share your journey as well. In this kind of community everyone should support each other, this it at least my understanding of mayoconnect. Btw my husband is a biochemist 🤣, for this reason his approach is similar to mine. Our life experience is mostly marked by numbers and measurable results, so we are right now in the process of reprogramming our mindset with affirmations, exactly as you have recommended. We are learning the 10 sentences method invented from Bernhardt. It is quite simple and easy to learn and a method which is fast to incorporate. Have you ever heard of it, maybe it is more a German thing? Are you practicing your affirmations alongside a specific system? Probably you can recommend another approach? Thank you 🙏 for your support and your honesty, your Birgit

@janemc Awww, thank you…but I’m not out here shining alone! I see a lot of stars in our Mayo Connect sky…beacons of hope! Thank you for being one of them. 🥰

@birgitr Oye!! This is where you can now help me!! LOL Math! Cringe!! The mere mention of that subject sets my palms to sweating. 😂 But that does explain why you want to understand the ‘how could this evolve’ finer points of your diagnosis.
My husband is ‘Mr Science’ with a background in chemistry, organic chemistry and math…he’s focused on finite/predictable outcomes such as you’re used to. So when I developed an aggressive blood cancer and went through treatments it was easier for me to cope than for him! Because in a blood cancer nothing is predictable, statistics didn’t always compute, and there were no finite results that he could count on! In my non-linear brain, I was fine with taking each day as it came with whatever ‘fresh hell’ awaited. 😅. He wanted answers. He wanted facts and figures.
When first diagnosed I was admitted to the hospital for 5 weeks. My husband developed a fun rapport with my chemo nurses. They were so sweet. Anyway, every morning when he came to visit me, they would have a printout of all my blood result numbers and hand it to him. That way he could enter everything on a spreadsheet. It helped him make sense of the trends in my blood numbers, what everything meant and if my health was deteriorating or making progress.

I wish you well on your mission to ‘the bright side of life’! You might want to do a search online for Self Affirmations or Positive Affirmations which may help guide you along the journey. The theory behind refocusing thoughts to a more positive pattern is that, with repetition of affirming statements, the brain can form new neural pathways, which create physical connections to these repeated thoughts.
So, by strengthening these pathways it may be easier for the mind to return to positive thinking patterns rather than falling back into negative thinking. Eventually, this may lead to positive mental outcomes. It takes practice. It’s not that I never have negative thoughts. It’s that I only allow myself to dwell briefly on that negative thought and move on! My mantra is Accept, adapt and move on. Hopefully that helps!
Keep me posted on your progress in Happy Land and your ET, ok? 🥰

@loribmt yes I am feeling utterly blessed being part of this community and particularly being accompanied by an expirienced and most importantly so perceptive mentor like you.

What me mostly hit was your ability to let go from your worries and change your attitude towards a more positive and optimistic one. Thank you so much for sharing 🙏🌹Honestly my past mindset resembled your previous one. I have been overthinking things regularly even when the issue itself was from minor priority. It took me most of my adult life to realize what really matters , not to put things on the backburner and learn how to avoid pondering too much .
For this reason is this specific desease for me a new challenge in terms of living a fulfilling meaningful life besides without being defined by the health issues although and particularly no one knows how things a gonna go. Last point is crucial for me to achieve ,because I was always craving for knowing how things could evolve ( maybe this is especially a trait from someone who loves mathematics 🤣🤣, here the result is cristal clear).

Lori, you're a shining light for all of us.

THANK YOU.

@birgitr dear, My goodness, you should have no hesitation using your newly acquired English skills! Talk about impressive. I’d say you’ve mastered the language and express yourself quite eloquently. 🥰. Thank you from the bottom of my heart for your heartfelt response.

I really do try to ‘practice what I preach’. I spent too many of my younger years worried about what if this happened, what if that happened…and none of it ever came to fruition. All that time wasted with worry. Then, later in life, when I actually did face my mortality with leukemia, I dealt with that one day at a time the best I could. Keeping a sense of humor and being as positive as possible throughout.

Changing attitudes doesn’t come over night. It takes practice with daily positive affirmations, switching negative thoughts to positive outcomes, little changes like that. Over a short period of time it becomes natural to have a more genial outlook. ☺️

As for your quesiton about the importance of VAF (variant allele frequency) and the impact on the development of ET…While I’m aware of allele burden definitions and that they may be useful prognostic biomarkers, that way is above my pay-grade. 😅
You have some great questions that warrant answers. So my suggestion is to write these questions down and ask them at your next appointment with your hematologist!

As for life expectancy, we have many members in Connect whom have been diagnosed with ET…from newbies to veterans still living multiple decades later. Each person’s situation is unique to them. So again, longevity questions would be for your doctor to answer.

But if it’s of any consolation, many doctors of members in Connect, including my own hematologist when he and I discussed myeloproliferative neoplasms (such as ET and PV) have anecdotally stated, “The majority of patients pass away with these blood conditions than from them.”
So keeping with my perspective of staying positive and forward focus, I’d say just get about with your life. If something changes, then you’ll deal with it at that time! Your doctor monitors your labs and will watch for trends. Nothing will happen over night.

I did a quick search for all the discussion surrounding ET (essential thrombocythemia) where you can jump into any conversation with other members such as @janemc @nohrt4me @mikecaldwell just to name a few.
Here’s the link to my search: https://connect.mayoclinic.org/search/

Wishing you a lovely week ahead! You mentioned that you teach maths! I expect that you’re a wonderful, well-respected teacher! Sending you a hug!

I don’t have the JAK2 mutation, but I have ET with CALR . (I’m also 66 years old.) I’m recently diagnosed, and my platelets have stabilized just below 700,000. I’m unable to tolerate Hydroxyurea and currently take just aspirin. I have experienced the discolored feet when sitting too long. This has been going on for years, but I couldn’t get any doctor to take me seriously. I have also had that overwhelming feeling of heaviness, although not as intense as yours sounds. I deal with arthritis, but I do feel better when I’m up and moving. I have frequent night sweats and morning headaches.
My most concerning symptom is a constant sore throat. It is not red or sore in the way it gets with a cold or sinus drainage. It feels bruised when I swallow, but I don’t think I have any swollen lymph nodes. I also have a sore and tender scalp that accompanies the sore throat. My hematologist told me ET has no symptoms, but I beg to differ! He is young, and I think I may be one of his first MPN patients. I have another appointment with him next week, and hope to get some answers to the sore throat and maybe a referral to an MPN specialist.