JAK2 Mutation - Effects and Questions

Posted by ettap @ettap, Mar 29, 2018

Have JAK2 mutation verified twice; one year apart and from different labs. As I understand, it may cause polycythemia vera, essential thrombocytosis, or leukemia. My hematologist has not provided any real info on this mutation so I've been researching via internet. I knew leukemia is cancer but was disappointed to find out today that the other 2 are blood cancers as well. I have been seeing a hematologist every 3 mos. about this since my 2nd blood clotting event in 09/2016. To date, all my blood factors have been in the normal range. Here are some of my questions: 1. Is it typical to verify this mutation well before it triggers one of these diseases? 2. I know early detection of cancer can be a real plus, but is there any research or experience that supports proactive steps that can be taken to deter the onset of any of these possibilities? 3. With polycythemia vera and essential thrombocytosis, is blood letting the primary treatment? If so, can the blood be donated? 4. Since none of my blood factors have ever been out of the normal range to date, no specific result of the JAK2 mutation has raised its ugly head. Is this normal? I'm not typically a worrier. In fact, I do really well with things like this once I know what I am dealing with. Information becomes my sword which allows me to take worry and nip it in the bud.

Interested in more discussions like this? Go to the Blood Cancers & Disorders group.

@lag630

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.

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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?

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@stevehurlburt

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!

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Thank you and you are correct!

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@loribmt

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?

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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.

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@lag630

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.

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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?

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Hello and thank you! Yes I’ve recently been checking on places to stay. I was leaning towards Viola Suites, 2.7 mi from clinic, apt style, and pet friendly ( 9 yr old lab). However, I like your suggestion to stay as close as possible to the clinic. It will help alleviate the stress of getting care in the most timely fashion. Marriot is also pet friendly. Yes I will be reaching out to you with questions as we try to navigate this process. Any suggestions are greatly appreciated. This is just so daunting, as you know.

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@lag630

Hello and thank you! Yes I’ve recently been checking on places to stay. I was leaning towards Viola Suites, 2.7 mi from clinic, apt style, and pet friendly ( 9 yr old lab). However, I like your suggestion to stay as close as possible to the clinic. It will help alleviate the stress of getting care in the most timely fashion. Marriot is also pet friendly. Yes I will be reaching out to you with questions as we try to navigate this process. Any suggestions are greatly appreciated. This is just so daunting, as you know.

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Daunting is the appropriate word, for sure. Trying to imagine packing up and living somewhere else for over 3 months is intimidating when you don’t know the area or what your husband will be facing. That’s why I’m here and there are others in the forum who have also had this journey,
From my personal experience we chose the Marriott Residence Inn. 441 W Center. It’s not a 5 star hotel but it is clean, comfortable and very convenient to accessing the clinic on a daily basis. Your husband will require daily trips to the clinic and parking is a challenge. Being connected via the tunnel system allows you stress free rides down the elevator to the ‘subway’ for walking or using a wheel chair to the clinic.
As mentioned most of his treatment will be as outpatient however, there may be some unexpected trips to the hospital in the middle of the night and it’s a simple wheelchair walk from the hotel to the clinic, all inside, well lighted and safe. Wheel chairs are available everywhere inside the clinic and can be used for the length of your stay there, taking back to the hotel if needed. I’m not trying to frighten you, but the initial stage of the transplant can leave the patient pretty weak, so even walking a block to the hotel would be an effort. I had to use one for a few days too, as did most of my fellow transplant buddies who I got to know while there.
The Residence Inn has suites. We rented a 2 bed/2bath suite. It has a full kitchen with full sized refrigerator/range with oven, microwave, dishwasher, garbage disposal. It even has a fireplace. Easy to set up a homey nest.
If you rent there or any place in Rochester, ask for a month to month lease. It will save you a lot of $$ by not having to pay county room tax. Insurance generally offers a room allowance to defray the cost of lodging. It is convenient being able to bring your dog. ☺️ It’s in a nice neighborhood with lots of sidewalks and walking trails through parks and along creeks and rivers. My husband was never idle while I was preoccupied with recovery. ☺️

When you get to that point of securing a room, I have a list of items to consider bringing along to make the stay more comfortable. After all it is your home away from home for several months.
Do you have a timeframe for this?

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@colleenyoung

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

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Colleen, thank you for asking. Very fortunate that all my other blood work is within acceptable ranges. So the doctor will continue to monitor platelet levels every three months. The doctor was encouraging in that I have been living with these levels for almost six years and have not developed any other problems along with other normal blood work. Bone marrow biopsy in 2017 was normal so he is not going to repeat that at this time. He said the Jak2 positive explains the why. In the most recent blood work the platelets had come down to 633. Staying hopeful. I can tell from these feed that others are experiencing more severe issues. I wish good future health for everyone.

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@loribmt

Daunting is the appropriate word, for sure. Trying to imagine packing up and living somewhere else for over 3 months is intimidating when you don’t know the area or what your husband will be facing. That’s why I’m here and there are others in the forum who have also had this journey,
From my personal experience we chose the Marriott Residence Inn. 441 W Center. It’s not a 5 star hotel but it is clean, comfortable and very convenient to accessing the clinic on a daily basis. Your husband will require daily trips to the clinic and parking is a challenge. Being connected via the tunnel system allows you stress free rides down the elevator to the ‘subway’ for walking or using a wheel chair to the clinic.
As mentioned most of his treatment will be as outpatient however, there may be some unexpected trips to the hospital in the middle of the night and it’s a simple wheelchair walk from the hotel to the clinic, all inside, well lighted and safe. Wheel chairs are available everywhere inside the clinic and can be used for the length of your stay there, taking back to the hotel if needed. I’m not trying to frighten you, but the initial stage of the transplant can leave the patient pretty weak, so even walking a block to the hotel would be an effort. I had to use one for a few days too, as did most of my fellow transplant buddies who I got to know while there.
The Residence Inn has suites. We rented a 2 bed/2bath suite. It has a full kitchen with full sized refrigerator/range with oven, microwave, dishwasher, garbage disposal. It even has a fireplace. Easy to set up a homey nest.
If you rent there or any place in Rochester, ask for a month to month lease. It will save you a lot of $$ by not having to pay county room tax. Insurance generally offers a room allowance to defray the cost of lodging. It is convenient being able to bring your dog. ☺️ It’s in a nice neighborhood with lots of sidewalks and walking trails through parks and along creeks and rivers. My husband was never idle while I was preoccupied with recovery. ☺️

When you get to that point of securing a room, I have a list of items to consider bringing along to make the stay more comfortable. After all it is your home away from home for several months.
Do you have a timeframe for this?

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We will know the timeframe at the end of April. At that time they will determine if they will do a splenectomy or will be able to proceed with BMT in the near future. I can’t tell you how much your communication is helping us. Thank you.

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@lag630

We will know the timeframe at the end of April. At that time they will determine if they will do a splenectomy or will be able to proceed with BMT in the near future. I can’t tell you how much your communication is helping us. Thank you.

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It’s my pleasure to help you in any way I can. I wished I’d had a mentor to help me navigate the transplant world. My doctors and all the staff at Mayo were absolutely the most caring and attentive people I’ve ever met. But they haven’t actually been on the receiving end of the experience. So it’s my goal to help anyone going through this process, to let them know there is hope on the other side and that it’s worthwhile for a second chance at life. I’m 68 and coming up on 3 years post allogenic transplant and feel fabulous! In fact I feel younger than I have in years! So I do my best to offer that same level of hope to others.

I know you’ll have a ton of questions. So don’t hesitate to reach out and ask! Will you let me know what you find out?

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@loribmt

It’s my pleasure to help you in any way I can. I wished I’d had a mentor to help me navigate the transplant world. My doctors and all the staff at Mayo were absolutely the most caring and attentive people I’ve ever met. But they haven’t actually been on the receiving end of the experience. So it’s my goal to help anyone going through this process, to let them know there is hope on the other side and that it’s worthwhile for a second chance at life. I’m 68 and coming up on 3 years post allogenic transplant and feel fabulous! In fact I feel younger than I have in years! So I do my best to offer that same level of hope to others.

I know you’ll have a ton of questions. So don’t hesitate to reach out and ask! Will you let me know what you find out?

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I certainly will.
Thank you

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