Question about how you each received your diagnosis of MPN

I was referred to hematologist (not MPN specialist) had many many blood tests and finally a bone marrow biopsy and aspiration. Then I took my test results to MPN specialist who was more knowledgeable and communicative, for second opinion. That was in 2021 I've been on HU plus baby aspirin since. I have blood tests every 3 months and platelets have remained stable

I was diagnosed with high platelets after a blood test in January 2025. My previous July 2024 blood platelet results were 250 and consistently the same over many years. My PCP thought the higher value, 450 , could be a lab error , but the repeat test confirmed the higher value. She referred me to a hematologist who tested for genetic mutations which came back positive for JAK2 at 6%. The hematologist concluded that positive result confirmed that I have Essential Thrombocythemia and she prescribed Hydroxyurea 500mg every other day. She said I didn't need Bone Marrow evaluation because those results would not change her treatment decisions. During my diagnosis appointment I was not told I had blood cancer and was told that my disease was congenital from birth as a genetic defect which was hereditary. Doing research on Hydroxyurea I discovered that it is chemo and I wondered why I was prescribed chemo. That is how I found out that I have blood cancer. I also discovered that the JAK2 mutation is not genetic defect from birth as described in the handout she gave me, but that JAK2 is a mutation that results for unknown reasons. I walked out of that appointment with a "watch and wait" conclusion that before I left the premises was changed to treatment with Hydroxyurea. Strange.

I went to Mayo Clinic for a 2nd opinion since Mayo is considered the best resource for blood cancer treatment. My new doctor said that only 6% JAK2 cells in the blood sample did not confirm an ET diagnosis and he said that a 30% JAK2 result would be more significant. He recommended a Bone Marrow biopsy for further information which I did with little discomfort. There were no other issues to discover for current or future probabilities, so I am continuing the same drug and dosage.

My last blood test a few months ago had reduced platelet count of 350 after only 10 pills and I have no side effects from the Hydroxyurea. I do not have any symptoms and continue a healthy 76yo lifestyle of activities every day .

I will continue my 3 month blood tests and telehealth visits with my Mayo doctor and in person visits 1-2x per year.

That's my story and I hope it helps .

Thank you to those who shared their story. It is quite evident that I need a second opinion with a qualified doctor in MPNs who can explain my situation to me. Strangely, I feel what I exactly have is not exactly known by my O/H and my Medicare Advantage Plan has no MPN specialists, just bone marrow transplant specialists. I do know my O/H said she talked on the phone with the pathologist who read my results who said my “bone marrow biopsy looks more like primary myelofibrosis”. Then I received a message in my kp.org from my O/H saying that “you might be transitioning from prefibrotic myelofibrosis”. The day of my bone marrow biopsy only I was required to do STAT blood work that turned out really strange with lowered platelets by about 400 but still high and slightly lower than normal hemoglobin, 11.1. All five other labs I have done from December 2024 to May 2025 show higher platelets and normal hemoglobin ranging from 11.6 to 12.7. My other cells fluctuate greatly too and graphed look like zig zags which make impossible to draw to straight line through the points. This all seems so strange to me as I have done nothing differently and do not take any meds, no Hydrea ever in my life! I had never even heard of it until it was prescribed to me my my O/H in January 2025 and 500 mg twice each day seemed quite high to me to begin with. I never even filled it! I now take low dose daily aspirin as I do have high platelets. I am great full to feel fine with no symptoms and my normal good energy; however, it is very frustrating for me not to understand how my diagnosis is being determined as well as not to to feel comfortable with my O/H and her knowledge about what I have. She doesn’t like to be questioned I know! She referred me to bone marrow transplant specialist but I am not sure that is who I should be seeing next. I certainly do not care and would never consider doing a bone marrow transplant without knowing what I exactly have going on! Thank you for listening and sharing. Have a blessed day doing what you enjoy.

Don't forget these blood diseases are considered very rare, so you could be correct to
wonder if your doctor has enough knowledge and experience. Many of our fellow Mayo Connect friends have suggested seeking out a large institution or teaching hospital at a university med school for an opinion. Mayo is on the leading edge of blood diseases and there are affiliate hospitals all over the US. https://www.mayoclinic.org/about-mayo-clinic/care-network/network-members . MD Anderson is also very experienced.

If you can find your way to take advantage of any of these resources for a 2nd opinion you may be able to use telehealth for long distance evaluation. Ask whomever you connect with at any given health institution for their policies on long distance patient care.

Also I often Google and ask ChatGPT questions by entering lab and blood results and bone marrow results and technical questions into the "ask anything" window and you don't have to register to get answers but if you register with ChatGPT your response information will be archived and you can ask follow up questions. But remember to confirm all AI information with your doctor for further information.

Good luck.

I was diagnosed in March 2025 after rising platelets caused painful jabs in my toes. This had been going on for 3 years prior, slowly progressing. I was hurting, taking Ibuprophen and Naproxen daily with little relief. I had Covid and following that, everything got worse (vertigo, painful feet, overall tiredness). My platelets were at 12000. In March, I was told that I needed a bone marrow biopsy (painful by the way) and mutations evident were JAK2, TET2 and ASXL1. I take Hydroxyurea to reduce platelets; last blood draw they were at 370. I have some neuropathy now ( light jabs all over) and so tired. I have no thyroid gland (complete thyroidectomy 40 years ago). so I take medications well apart: Levothyroxine in the AM, Hydroxyurea in the PM. I was told that I have pre-myelofibrosis with mutations that could lead to Leukemia. I'm seeing an Oncologist who is monitoring blood and dosage, but many of my questions go unanswered. I don't know if or when this will progress or maybe regress! My hair is thinning and I don't want to be vain, but it is depressing to have the brush filled with my hair every time I brush it! I feel off-balance at times with headache and fatigue. I'm anxious about all of it. I'm 73, female, active and hoping for many more years.

Hi @mumblipeg ,
Thanks for sharing your store and great to hear you just have pre-myelofibrosis diagnosis. Sorry to hear you have some other issues. Stay positive, keep busy doing what you like to do, and try not to worry which is easier to say than to do I know.