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Jak2 mutations w/high WBC
My journey began about 4yrs ago with routine blood work ordered by my PCP. There became a history of high white blood cell count so my doctor sent me to the Oncologist/Hematologist. More blood test were ran over a 3mo period, each month WBC came back higher and higher. Next up, bone marrow biospy - not a very comfortable experience. Just the sound of the drill is forever burned into my memory. So, a week later turns out JAK2 mutations were found. He wants to see me in 3mo and possibly repeat biopsy again đ . This is all new to me, I do have symptoms that I have noticed over the past 10yrs or so. Extreme joint pain and swelling/sensitivity, drenching night sweats, migraines, ocular mirgraines, fatigue, heart palpitations, nausea in AM some days, bone pain/aching, my whole body aches all the time. I'm 41yrs old and sometimes I feel like I'm 90 - all these symptoms have gotten worse over time. I have seen a Rheumatologist and was told I have "markers for RA". But im so scared about this JAK2 mutation turning into something else đ So I guess my question is... is there anyone else here like me?? Any thoughts, tips, advice would be so very appreciated. Thank you all đ
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Hi @hollz784 Oh golly, you have a lot going on right now and itâs understandable to feel scared and uncertain with a diagnosis hanging out there! Iâm so glad you joined Mayo Connect. Youâll find youâre not alone hereâŠthere are many other members who have acquired a mutation on the JAK2 gene and share their experiences with the group.
The JAK2 gene (Janus kinase 2) instructs the JAK2 protein, which stimulates cell growth and division. This protein is important for controlling blood cell production. When there is an acquired mutation on this gene, basically the âoffâ switch is defective allowing an overproduction of a specific blood cell such as red blood cells, white cells or platelets. This defect can be the cause of a group of blood conditions called myeloproliferative neoplasms. Thatâs a mouthful reduced to a reference of MPNs. People with this defect can go on to have too many red cells such as Polycythemia Vera (PV), too many Platelets (ET) and Myelofibrosis (MF) and several other potential disorders. Medications/treatments can help control the over production of the excess blood cells with positive results. As many hematologists anecdotally state; âYouâre more likely to pass away with this condition, not from it.â
There are several discussion in Connect regarding the JAK2 mutation. Youâll see replies from members with PV, ET, MF, etc. Here is a link (below) to just one of the conversations where youâll meet @janemc @christina3444 @irishnanny3 @chadknudson @esperanzam and many others. The discussion is a little dated but itâs still relevant. You can reverse the order to Newest to Oldest.
~JAK2 Mutation - Effects and Questions https://connect.mayoclinic.org/discussion/jak2-mutation-effects-and-questions/
Other conversations can be found by typing in JAK2 Mutation in the top search bar.
Your symptoms sound miserable. Quite often, when patients start medications for their MPN condition symptoms tend to improve. Has your doctor discussed a potential treatment plan for you? Have they given you a specific diagnosis? Has your involvement been staged for risk?
Hello. Iâm 78 and was diagnosed with PV/JAK2 about five years ago. Routine blood test and just before visiting my GP, my right knee became very painful. Turns out it was gout. So, I found a hematologist at my GPâs advice, then I found another hematologist that I preferred because she didnât act like she was annoyed by my questions.
I was immediately put on Hydroxyurea(HU) and began phlebotomies as needed. And, low dose aspirin.
I was told if the HU didnât help then I would have a bone marrow test. So, far unnecessary. I am religious about the blood tests. Now, every three months.
You donât mention any meds in your post. Youâre not taking anything?
It is a scary diagnosis but youâve found Connect and itâs a great resource and sounding board.
Aside from seeing your doctor in three months is there a plan?
Are you near a Mayo Clinic?
Please know that everyone here is friendly and will do what they can to help you gain some control and confidence in your path.
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2 Reactions@loribmt
That was great advice. I hope everyone with the JAK2 mutation reads it twice.
As a patient with Myelofibrosis, Iâd like to comment on bone marrow biopsies. I worked in a hematology lab for a few years followed by many years in a genetics lab. My experience with a bone marrow biopsy was so much better than what Iâm seeing talked about. I was given a mild sedative, felt nothing, and woke up with a patch on my hip. Later I did feel as though someone punched me there but nothing else. So ask your doctor to put you out.
The bone marrow was tested for a large panel of mutations related to myelodysplasia. It was great to know that JAK2 was the only mutation which meant my risk was lower. The most meaningful part of the marrow was the pathologistâs reading of the BM smear. I got a definitive diagnosis of Primary Myelofibrosis. He could see fibrosis tissue filling in my bone marrow. No more guessing or ordering another marrow. They covered it all.
I currently have an oncologist the is affiliated with the Mayo system. I also see Mayo Clinicâs leading specialist for Myelofibrosis. Iâm in good hands.