JAK2 Mutation - Effects and Questions

I traveled as usual and flew places in 2020 and enjoyed many wonderful experiences with family and friends. I also had COVID in November, which I contracted from my 85-yr-old mom when she was released into my care from a rehab facility, not knowing she had COVID! I had an extremely mild case, as did my mom and husband. Over the 30 years I've had JAK2+ ET and taken hydrea, I've chosen to live as normal and not in a state of fear and trepidation. Some countries won't let you in right now with COVID restrictions, but I'm hoping for Iceland this summer! The more you worry and fret about this, the worse it will feel. So go on and live your lives! Could be much worse!

My daughter was diagnosed wit JAK2 October 2020
She hasn’t had any clotting yet so praying they got it before it started. She did have IV Iron 5 times since and she takes aspirin everyday to prevent clotting. She sees her oncologist in March and we’re hoping her blood is flowing freely. Prayers for you to be well.

I have been on HU for nearly 28 years. I have had some issues, but nothing really that wouldn't come along with aging anyway. I started HU when I was 39 and still take 500 mg/day plus an 81 mg aspirin. It's kept me going!

My father passed away from a battle of myelofibrosis (MF), over 10 years after being diagnosed with enlarged spleen and 6 from diagnosis of MF. I am nearly 9 months post immunotherapy treatment for stage 3 melanoma treatment (discovered in lymph nodes without known source). During a post treatment CT scan the radiologist identified my enlarged spleen, which is not typical of melanoma, but could be a side effect of immunotherapy (very rare and limited literature). My oncologist was dismissive of the genetic potential for me to have MF, like my father. Additional observation of my spleen showed continued growth and my oncologist finally discussed with another who suggested a JAK2 mutation blood test. You can see where this is headed; I was notified yesterday that I have the JAK2 gene mutation. I am 47. I am in good health; other than previous melanoma (nearly 2 years from discovery) that I have battled and praying for a very good prognosis on that front shortly! My melanoma specialist is being reassigned and I will be headed to another hematologist that is very familiar with my family history of cancer. As my medical group sends test results directly to the patient as soon as they are received I have yet to discuss with my Dr. I presume I will have a bone marrow biopsy to determine stage, if any, at this point. I am jumping to the MF diagnose myself; treatments for early stage, ongoing studies or any suggestions to extend this wonderful life are appreciated. As with melanoma, the treatments are expanding by the day, I will not hang my head in fear, but give this godforsaken disease a damn good fight. Too much to live for to live in fear.

@scottmatteo Go for it, Scott. I know what it is to have MF diagnosed, then ignored by Mayo (Phoenix). I do not know what one should do to treat this killer, but it is a shame that it is ignored. Do all clinics ignore it this way?

I believe my oncologist, a melanoma specialist, was only concerned with the melanoma and did not look at the potential for other cancers to be present or beginning to present. I had discussed with family changing oncologists, but felt it was important to see the melanoma treatment through. His theory, which is typical, is that JAK2 nor MF are hereditary and should not be a concern. May not have MF yet, but having enlarged spleen and JAK2 along with a few other symptoms.... Unfortunately, cures and full treatments are not in place for MF. The only "cure" is a replacement of bone marrow unless something else comes down the line.

Scott, when do you meet with the hematologist? I’ll be interested to hear about his/her suggestions.

I met with new oncologist/hema this week. I will be getting a bone marrow biopsy, as expected, to determine the amount of fibrosis. Dr. was a bit optimistic that my CBC was not presenting evidence of MF. Other than a slightly elevated platelet count they are fairly stable and within margins each test. The enlarged spleen does not signify MF by itself. The JAK2 mutation is not hereditary, but the cause of it may be, not enough data on the subject to know what causes the mutation. It appears that this was caught early and potentially prior to the MPN presenting. Will know more after the biopsy. Be well.

I appreciate the report back, Scott. This all sounds promising, especially the part about your having got this early.

Hello Scott- My oncologist did the bone marrow procedure 3 years ago and confirmed the cause of high platelet count at 1.2 million. After SARS 2 vaccine, the platelet count went to 1.5 million and I began hydroxyurea 1000 mg per day which pulled the count down to .6 million. I continue to take hydroxyurea to reduce stroke risk from too many platelets. The side effects are brain fog, pale skin tone, ED, and a weird sense of being never experienced before for 74 years. I get a platelet count blood test monthly to monitor the level and continue a busy life of health care, family, volunteer work and business in that order. I hope that my experience helps you with the fear and uncertainty that come with an incurable disease. I look for studies and clinical trials to change and kill off the errant JAK2 cells/genes and create new JAK2 genes that are not cancerous. Stay tuned.