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Hi @hollz784 Oh golly, you have a lot going on right now and it’s understandable to feel scared and uncertain with a diagnosis hanging out there! I’m so glad you joined Mayo Connect. You’ll find you’re not alone here…there 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 ‘off’ 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. That’s 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; “You’re more likely to pass away with this condition, not from it.”
There are several discussion in Connect regarding the JAK2 mutation. You’ll see replies from members with PV, ET, MF, etc. Here is a link (below) to just one of the conversations where you’ll meet @janemc @christina3444 @irishnanny3 @chadknudson @esperanzam and many others. The discussion is a little dated but it’s 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?
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@loribmt
That was great advice. I hope everyone with the JAK2 mutation reads it twice.
As a patient with Myelofibrosis, I’d 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 I’m 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 pathologist’s 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 Clinic’s leading specialist for Myelofibrosis. I’m in good hands.