JAK2 Mutation - Effects and Questions

Hi, I have Essential Thrombocythemia with JAK 2 mutation and perhaps these folks looking for answers would have more luck if they were steered toward a site that dealt with JAK2 mutation all day long. mpn research foundation is the research foundation for myelproliferative neoplasms (MPN) and they have a community site as well for us with these cancers to connect. the site won't let me add a link because I am a new member so just google it. We have members from all all over the world dealing with JAK2 mutations who have decades of experience and can answer questions. The three main MPN's are Essential Thrombocythemia (ET), polycythemia vera (PV) and myelfibriosis (MF). Thank you for all that you do!

Hi @damari
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I have the JAK2 and SRSF2 mutations. I was diagnosed with MDS/MPN overlap with Thrombocytosis. Extremely rare. The diagnosis was made at Sloan following a molecular panel that looked at 400 known genes. My bone marrow aspiration and pathology report were somewhat confusing as it indicated possible myelofibrosis, CLL and HL. The Sloan MPN group said that's impossible so let's wait until the molecular panel results come in. The molecular panel resolves all the issues raised in the bone marrow procedures.

So I suggest you have a molecular panel done.

A P.S. I quess: and I know there is probably no good/clear answer but one cannot help but wonder what effects on the body, (bones) etc the HYDREA has. I know that without it I would probably have worse consequences but I guess we will all have to wait and see what the long term effects of this chemo has on who and how many. That is one thing I think is beneficial about sharing on a place like this with many others who are experiencing same and possibly different things.

Not sure if this is the place to write a follow up note. I have written before as ESPERANZA but the format for commenting is very unclear to me. SO if it needs to be placed somewhere else, please do so. I have been diagnosed with ET and positive JAK2 about 4 years ago (MAY2015). Here is the latest on what I have been going through.
It has been awhile since I commented here. I have been sick. My platelets have been higher than usual, since I have been on Hydrea (2 a day, 7 days a week) and they have been controlled until recently. So y Oncologist increased my dosage to 3 a day for the last 6 weeks. However, a strange thing happened. Back in January I had a bone marrow biopsy to see if my ET had possibly morphed into MYELOFIBROSIS and maybe it would explain the leg and hip pain I have had for almost a year. Well, it came back negative fo MYELOFIBROSIS but positive for MYELODYSPLASIA and some anemia. I was told I would have to start the VIDAZA injections 5 days a month for months or years possibly. I was approved by Medicare and scheduled for these treatments. A few days before they were to begin, I went back for blood work and my red and white cells were so improved that the Doctor postponed the injections fro 6 weeks. After 6 weeks, the MYELODYSPLASIA did not even show up in my blood work. I must give credit to GOD. I had prayed that HE take away at least one of my conditions, as I have quite a few. Well, even though I have had to increase the HYDREA, (platelets did finally come down to the 430,000's from the mid 600,000 where they were with the 2 HYDREA a day.
I spent a week in the hospital after that, since I had a terrible pain in my left shoulder blade all the way through to my chest. After waiting for it to calm down, it actually grew worse and after a visit to the ER they hospitalized me for a complete cardiac workup. Praise the Lord my heart was OK, no blood clots, no pneumonia, but after all that, all I could think of (I had had no falls or known injuries) was the VEST machine that my pulmonologist had sent and I had been using for about 6 weeks. I did not have the actual vest, but a wrap around. If anyone knows what this is, it is a machine that vibrates your chest and helps clear the secretions our of your lungs to avoid pneumonia and asthma exacerbation. Well, after the cardiologist sent me for x-rays of my ribs; sure enough, I had about a 2 week old fractured rib which was causing the pain. Now, I am on a waiting list for one of the other problems I have to be addressed which is a complete left hip replacement. So, I am praying my platelets stay stable, as well as everything else so I can have this surgery.
One of the concerns I have in the near future is that for this surgery I will have to be off of ALL aspirin and platelet medicines (HYDREA) for 7 days. Not sure how my platelets will react and will it affect my surgery and post surgery treatment?
I guess we will find out. My Oncologist has said I could hold one day of HYDREA and I have to tell her what the ORTHOPEDIC doctor says of holding all blood and platelet thinners for 7 days prior to surgery.
Oh, the complications that can arise when several things do wrong with these bodies.

Hello @damari, do you mind explaining more about what number you are looking for exactly?

I don’t know if there is a number to call or not to be honest

please give me info how to reconnect on Mayo connect Is there a phone number to call?

I was diagnosed 8 years ago with it and that is because of pain in my spleen from being enlarged. I have gone and had blood tests monthly then pint of blood taken monthly and just got on medicine. I have had scans of my bone marrow from a biopsy in the past as well.

Thank you for your quick response. Can you help me understand a bit more?--he said the platelet numbers indicate ET. Then he said the test was positive for JAK 2. Then I read the definition of policythemia vera and it sounded like JAK 2. When i go to the dr. what more should I ask? Are there variations of JAK2/polycythemia vera to be aware of. Presently a baby aspirin has been prescribed but a discussion of possible medication is to be discussed. Any added help is much appreciated. Thanks so much!