JAK2 negative...now what?

Posted by trillium @trillium, Mar 2 3:34pm

Hi all. I’m a 60 y/o female. I have had consistently above normal RBC, HCT, and. hemoglobin for at least 10 years. I saw a hematologist in 2011 who sent me for a sleep study and never saw me again. I started seeing a different Dr this past January because my HCT was 59.8%. Note that since diagnosis I’ve read everything I can get my hands on regarding polycythemia/erythrocytosis and have had at one time or another every symptom listed (and have been to various specialist to resolves some of these symptoms to no avail). After 5 phlebotomies my HCT is at 46.9% but my WBC is raising to nearly above normal. Since my JAK2 test was negative, lowering HCT to <48% is the doctor’s only focus. He will do no more testing—arterial O2, EPO, BMB—even though I have no history of cardiac or pulmonary disease. As long as my HCT is below the magic 48%, no more phlebotomist. He says my complaints of itching can’t be due to blood counts since I not only itch after bathing, but also at bedtime. He says my fatigue, shortness of breath, bleeding gums, and headaches aren’t symptoms of polycythemia. I don’t even have a follow up with him until the end of May! Basically he’s leaving me on my own.

I’ve had my records sent to Mayo Clinic to see if they are willing to see me. I haven’t heard back yet and I have no idea how long it will be before I do hear back. I’m terrified that they’ll say no because I have no where else to turn. There are no MPN specialists in my state. The hematologist I’m seeing now is the head of the Hem/Onc department at the hospital here.

In the meantime, does anyone have any suggestions on what I should do? How do I advocate for myself when my Dr won’t even see me? I’m especially worried because this has been going on as long as it has without treatment. I have no idea what it means for my WBC to suddenly jump up. Quite frankly, I’m feeling so lost right now.

Hi @trillium, while many patients with polycythemia vera (PV), essential thrombocythemia (ET) or myelofibrosis (MF) have the JAK2 mutation, it is possible to by JAK2 negative with PV or ET. Read more in this article:
– Discovery Of A New Mutation In JAK2V617F Negative Myelofibrosis Patients http://www.mpnresearchfoundation.org/Discovery-of-a-new-mutation-in-JAK2V617F-negative-myelofibrosis-patients

I'd like to also bring fellow members @mgrimes5 @thlas1971 @scsimpson @caroldk @jeffc4365 @gjb1 who also have a myeloproliferative neoplasm (MPN) but are JAK2 negative. Read more in this discussion for example:
– Polycythemia Vera https://connect.mayoclinic.org/discussion/polycythemia-vera-1/

According to Mayo Clinic's explanation of PV, the symptoms you're experiencing align. https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850

I can imagine your feel lost right now. It takes so much to have to advocate for yourself, but I believe that's what you're going to have to do. And you've already begun by contacting Mayo Clinic. You can always call Mayo Clinic to ask about the review of your records. Have you tried following up?

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@colleenyoung

Hi @trillium, while many patients with polycythemia vera (PV), essential thrombocythemia (ET) or myelofibrosis (MF) have the JAK2 mutation, it is possible to by JAK2 negative with PV or ET. Read more in this article:
– Discovery Of A New Mutation In JAK2V617F Negative Myelofibrosis Patients http://www.mpnresearchfoundation.org/Discovery-of-a-new-mutation-in-JAK2V617F-negative-myelofibrosis-patients

I'd like to also bring fellow members @mgrimes5 @thlas1971 @scsimpson @caroldk @jeffc4365 @gjb1 who also have a myeloproliferative neoplasm (MPN) but are JAK2 negative. Read more in this discussion for example:
– Polycythemia Vera https://connect.mayoclinic.org/discussion/polycythemia-vera-1/

According to Mayo Clinic's explanation of PV, the symptoms you're experiencing align. https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850

I can imagine your feel lost right now. It takes so much to have to advocate for yourself, but I believe that's what you're going to have to do. And you've already begun by contacting Mayo Clinic. You can always call Mayo Clinic to ask about the review of your records. Have you tried following up?

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Thank you for your reply and compassion, Colleen. I’ve reviewed the links/discussions you attached. A lot of good information—especially about the new mutation. I just need to figure out how to present it to the hematologist here until I can find an mpn specialist.
As for following up with the Clinic for my records review—unfortunately the phone number that the scheduling assistant provided me is actually a fax number (in addition to the hematology clinic’s fax). So…I have no way to follow up. Do I just call the appointment line again? I’m trying to get in to the Phoenix location.
As a side note: I found it interesting that when the appointment scheduler was running through the matrix for polycythemia, she was asking about chemotherapy and bone marrow transplant. When I said no to all of the above is when she said the hematology clinic would need to review my records. Are those actual treatment options for non-cancer disorders?
Thank you again.

REPLY
@trillium

Thank you for your reply and compassion, Colleen. I’ve reviewed the links/discussions you attached. A lot of good information—especially about the new mutation. I just need to figure out how to present it to the hematologist here until I can find an mpn specialist.
As for following up with the Clinic for my records review—unfortunately the phone number that the scheduling assistant provided me is actually a fax number (in addition to the hematology clinic’s fax). So…I have no way to follow up. Do I just call the appointment line again? I’m trying to get in to the Phoenix location.
As a side note: I found it interesting that when the appointment scheduler was running through the matrix for polycythemia, she was asking about chemotherapy and bone marrow transplant. When I said no to all of the above is when she said the hematology clinic would need to review my records. Are those actual treatment options for non-cancer disorders?
Thank you again.

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@trillium, yes I would call the appointment line in Phoenix again and explain the situation regarding following up.

Sometimes chemo drugs can be used in the treatment of polychythemia vera. The most common treatment for PV is having frequent blood withdrawals. See more info here:
https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855
Bone marrow transplants can benefit people with a variety of both cancerous (malignant) and noncancerous (benign) diseases. See a listing of conditions here: https://www.mayoclinic.org/tests-procedures/bone-marrow-transplant/about/pac-20384854

REPLY
@colleenyoung

@trillium, yes I would call the appointment line in Phoenix again and explain the situation regarding following up.

Sometimes chemo drugs can be used in the treatment of polychythemia vera. The most common treatment for PV is having frequent blood withdrawals. See more info here:
https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855
Bone marrow transplants can benefit people with a variety of both cancerous (malignant) and noncancerous (benign) diseases. See a listing of conditions here: https://www.mayoclinic.org/tests-procedures/bone-marrow-transplant/about/pac-20384854

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Thank you, Colleen. I did call the appointment line again and they connected me to the correct person in Hematology. I'm just waiting for her to call me now. Fingers perpetually crossed….

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