JAK2 Mutation - Effects and Questions

Oh, that’s the greatest news! Mayo-Rochester is my home away from home and your husband can not be in better hands there! I’m intimately familiar with the transplant program and process there so please feel free to use me as a sounding board.
My husband and I made our move to Rochester as well for the duration of the transplant. We stayed at the Marriott Residence Inn which is linked to the ‘subway’ system to the Clinic. While the procedure is basically done as outpatient, requiring only a brief few days in the Methodist hospital on campus, he will be required to return daily for bloodwork and infusions. So you’ll want some place very convenient. Do you have any questions about lodging for your stay?

Good Morning! It’s nice to have someone who has gone through this. Yes, we will have to move to Rochester, MN and are getting care at Mayo Clinic. Fortunately we are only a couple hours away, however will have to move there for the daily check ups post BMT for at least 100 days.

Thank you and you are correct!

Good morning, @lag630 I know from experience this is an unsettled time for you and your husband. Not the way you’d expected to be enjoying retirement, right? My husband and I went through the same scenario. Life was going along just fine and then, out of the blue, I developed AML (acute myeloid leukemia) 3 years ago. As my only option for a future I required an allogenic (unrelated donor) bone marrow transplant which has, indeed, been a life saver! I see your husband will also require a new immune system to put things right. I will admit it’s no walk on the beach but it is doable and one heck of an experience! And a means to giving your husband a second chance at life. ☺️

It is a complex undertaking so it’s best to have this procedure and follow ups done at a hospital/clinic which specializes in bone marrow transplants.
Are you living near a large hospital that specializes in this procedure?

Sad and scary, but it is what it is. Good luck with these procedures. A rough road, but the path you are facing. Growing old is certainly not for the faint of heart!

My husband was diagnosed at 69, a year ago, with Primary Myelofibrosis including Jak2 mutation. A bone marrow biopsy and DNA testing confirmed this. We tried hydroxyurea but that did not shrink his spleen (as the spleen takes over the production of RBC since the bone marrow is unable to do this efficiently). Currently on Jakafi for the last 4 months, minimal side effects. We are facing a bone marrow transplant in the near future. If the spleen has not reduced in size, it will be removed and then we will proceed with the bone marrow transplant. A scary ride for sure, but it's the only cure.

Hi Cynthia, welcome. How did your appointment go today?

I have been living with high platelets (500-680 range) since 2016. In 2017 I had a bone marrow biopsy and lots of blood work and the doctor could not find anything wrong with me. I am healthy, have no symptoms, no other major health issues except hypothyroidism which I have taken medication for for over 30 years. My primary care physician sent me to a new hematologist/oncologist. He was perplexed as to why my platelets were high. So he ordered the Jak2 mutation qualitative test and it has come back positive. I see him again this Friday. Could someone direct me as to what I should be discussing with him. I literally am having no symptoms. At the last visit he suggested the low dose aspirin but I told him that I already suffer with tinnitus and have read that aspirin can cause tinnitus and/or make it worse, so I don't know if I want to take that. The hydroxyurea scares me as to all the side effects. Any guidance from anyone on this forum would be very much appreciated. Would the blood letting be a course of treatment for me? I am 68 year old female.

Sorry for rambling, but by sharing my experience I hope to provide some insight and respond to some of your questions/concerns.
Well, my understanding is that a JAK2 mutation is diagnosed by either a bone marrow biopsy or genetic testing. I have had both twice and have ET with JAK2 as well as other genetic markers. My learning has been that JAK2 is a signaling system that turns the bone marrow on/ off for making blood. Mine presented with high platlets and then a bone marrow biopsy confirmed. Twice, a hematologist is not the expert for this you need an Oncologist And find one who Knows about blood disorders. Mayo in Scottsdale has one of the best in Jeanne Palmer! I see her PA monthly. He sees more blood disorder cases than typical oncology practices and all my data and his notes go directly to Dr Palmer for review.
I take Hydrea 500-1000mg per day, changes with platlet levels. Hydrea is an oral chemo that basically kills of overproduction in a well balanced fashion. I had a chronic cough which was diagnosed as “ cloudy lung” and no idea what that meant. You will get that answer a lot as these are rare cancers and research is lacking. So they “assumed” it was Hydrea related. Switched to interferon/Pegysus injections…but once I found out the cost would be $50k annually out of pocket, I insisted a return to Hydrea. None of these are cures, only maintenance drugs…so I will go with $20/ mo vs $4500/ mo. Give me a cure for $100k and I am all in! You will find there are a lot of guesses and not sure in dr responses on many side effects. So sometimes You need to be your own best advocate. Most drs are arrogant and think They have the answers, but it is your cancer…own it! Anyway, I ran into a gang green on my toes on one foot. Turns out that my platlets had been elevated And I had a 40% blockage in an artery to my foot. Fought for 8 months to address these issues and added stent, blood thinner, and doubled Hydrea in order to avoid that 50% chance of losing my foot. Now that was scarier than having been diagnosed with cancer…twice!
You will find many cases of ET where treatments like Hydrea, interferon and Jakafi successfully minimize side effects and the disease does not progress to Pmf which can only be cured with a bone marrow transplant. But all are only Managing the side effects.
I have Jak2 and ET did not present until I was 65… I think it is like the old adage about prostate cancer…most men die with it and not from it. I assume many folks have Jak2 but it never presents symptoms and are never inconvienced by it or require treatment.
Progression from CLL, to ET to Pmf and even Lukemia is rare…lol…rare on a rare cancer. So chances are pretty minimal and not enough to worry about. I hear this is not hereditary, But then why did my mother have CLL..no treatment required, Niece had ET at 15 and was a test case for glevac and I have ET…I think that falls into They don’t know.
Just remember you have a rare cancer and the information out there is sketchy at best, so find an expert to guide you through this journey, and saddle up for a long ride!

so what is your Hydroxy dosage? I was on only 500MG but my doctor(here at Roswell) doubled it, as all on the CBC went high. I too stopped on Sundays and since the new dosage I have not, but was thinking of cutting it to six days again, as I agree about the toxicity. I started in '06 at age of 48