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Blood Cancer - JAK2 - Autoimmune- Confusion
This is incredibly long...please forgive me for it. I'm just feeling very lost. I am 39, female.
Since at least 2016, I have had confusing symptoms that my doctor continued to send me to rheumatology for. The fourth rheumatologist told me in Feb. that he did not think my symptoms were related to an autoimmune issue. He recommended that I see a hematologist and that he personally felt it pointed more towards a blood disorder or blood cancer.
This was the first time this had ever been discussed as something other than autoimmune, even though I never had a definitive diagnosis.
I went to see a hematologist/oncologist. She seemed very dismissive. She said that I was simply too young to have a blood cancer, but that she would order all of the typical blood tests. The JAK2 genetic test came back positive. When she communicated the results, she said that because it came back positive, even though she thinks that it's too small of an amount to be important, she has to do her due diligence and do a bone marrow biopsy and aspiration, which will occur in just over a week.
When I talked to my doctor yesterday, she said that even if I were to have a blood cancer, she doesn't think it would cause the severity of symptoms I've been experiencing and wants me to go back to rheumatology, anyway.
I am tired and confused and feel like the people around me who are supposed to know more seem to know nothing at all, either. After scouring the research on blood cancer symptoms, as well as what the JAK2 mutation is, it does seem feasible to me that it could all fall under the blood cancer umbrella.
These are the symptoms I've been dealing with - rheumatology has ruled out R.A., which is what they've been throwing around to explain my blood tests for years.
- Enlarged spleen on scans in 2016, 2018, and confirmed again by hematologist/oncologist at this recent visit. Causes discomfort/fullness.
- High platelets since at least 2016, they've steadily increased over the years, and are around 600 K/UL currently.
- Elevated white blood count since at least 2016, typically slightly elevated CRP and sed rate is sometimes off.
- I cannot see what prior numbers are, but my last tests in Oct. and March show low MCH and MCHC - iron and ferritin are normal. My "Absolute Immature Granulocyte" value for those last two blood tests is .1 K/UL when the "standard range" is 0 - 0.03 K/UL (I'm having a hard time understanding what that means, so that's what it says.)
- I have had steadily worsening itching, redness/ heat all over my body, especially on my thighs, chest, and arms/hands. I MUST take zyrtec every day or it is unbearable.
- I have pain in both shoulders, knees, hips, and severely in my hands. My chest hurts on both sides above my breasts, regularly. I get pain in the pads on my hands and feet as well. There is visible swelling in my hands, especially. My left hand has undergone carpal tunnel surgery, and I have similar issues, still. Both hands are in various states of burning/tingling/numb...they hardly work at all (this is audio transcribed because typing is saved for work tasks.)
- I have been having severe dizzy spells that can last anywhere from a couple hours to a full day. I physically cannot walk, have a headache, feel sick, and it feels like an ocean is pushing on my head. When this first happened a couple years ago, I went to urgent care the next day, and they said I could have possibly had a mini-stroke, but it was really too late for them to really see or do anything, and I seemed fine then. After it started occurring more, my doctor put me on a blood pressure med, as it seems to correlate with severe blood pressure spikes.
- Nothing heals fast or at all...I have broken blood vessels in my eye that have been there for three months, now. Random purple spots on my stomach that are just there. If I get physically sick, I am very ill. I was hospitalized with pneumonia after a simple cold. Can't shake sinus infections, etc.
- I have difficulty regulating body temperature. I feel hot and flush, then I'm freezing, then I'm sweating.
- I have extreme fatigue. Sleep studies have shown no sleep issues, sleep apnea, etc.
- I was kicked in the stomach by my young son and wouldn't stop bleeding vaginally. I went to ER. They sent me home with no explanation, though this is where the 2018 enlarged spleen scan took place.
- Though the doctor has said there is no familial links, my brother had a pulmonary embolism on a morning jog in his 30s. My grandfather died of an unspecified blood cancer.
- My periods are weird...I spot for a week or more prior then have giant clots for a day or two.
- I bled profusely during intimacy a couple months ago and have been afraid to try again.
Anyone with a blood cancer weigh in on if these feel reasonable to them? Anyone with an autoimmune issue in addition?
What about the JAK2 and consistently high platelets? I am confused that the hematologist/oncologist still seems dismissive.
Thank you SO MUCH for your thoughts/ experiences.
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Dear PinkFlamingo. So sorry you’re going through all of this at such a young age. I am 74 and have the JAK2 mutation with platelets over 600 and just started taking Hydroxyurea which is a cancer drug that prevents cell division and thus lower the number of platelets. With all of your other symptoms and bleeding situation, I recommend you go to a cancer treatment center nearest to you and tell them everything that you just told us. I hope you get the right diagnosis and treatment. Keep us posted. - jackt00
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7 ReactionsI am sorry you are going through so many issues. Since you are positive for JAK2 it is very good you are going to have a bone marrow biopsy. If after biopsy you have an MPN you might consider a consult with an MPN specialist.
Prayers are with you for your journey.
Eileen
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7 ReactionsThank you. Unfortunately, this is the hematologist/oncologist at the cancer center who is still feeling dismissive.
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1 ReactionGood morning, @pinkflamingo. Your @name made me smile and think fondly of Florida this spring morning. We just got 13 inches of snow yesterday in northern Wisconsin so our winter in Florida seems like a hazy dream now. 😊
Oh golly, you are going through a horrible time right now and I’m so sorry you’re getting dismissive treatment from your hematology oncologist. The first red flag was when she said you’re simply too young to have a blood cancer or disorder! That can happen at any age from infancy through adulthood.
You clearly have something going on but it doesn’t necessarily mean you have a blood cancer. It is a really good idea to have that bone marrow biopsy/aspiration next week. While it sounds scary, please don’t fear this test because it is a vital tool to be able to see what’s going on in your bone marrow.
Bone marrow is the blood manufacturing site in your body. The biopsy will take a little core sample of your marrow and also peripheral blood from the same area. The tissue and blood are examined and tested very carefully by a number of different techniques which allows the technicians to determine the cell composition of red/white cells and platelets. This will also provide a picture of the overall health of the marrow and its capabilities for making healthy blood cells. The results can take a full week to return.
You’ve tested positive for the JAK2 mutation. I’m giving you some information below which explains what the mutation is and how it can interfere with the normal production of your blood products. JAK2 mutations can cause various bone marrow disorders. These are known as myeloproliferative neoplasms (MPNs), where the bone marrow produces too many blood cells. Some of the symptoms you have such as the enlarged spleen, itching, high platelets, etc., can be signs of MPN. It will be valuable to see the results of your biopsy. Because if there is something amiss, then you can start treatment to get you on the road to good health.
https://www.verywellhealth.com/jak2-mutation-5217909
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https://www.healthline.com/health/myelofibrosis/what-is-the-jak2-gene
Is it possible for you to change hematologists such as going to a large teaching hospital institution such as Mayo Clinic? Here’s a link to the Mayo Clinic home page if you’d like to request a second opinion. http://mayocl.in/1mtmR63
I also want you to know, you’re not alone with any of this…you now gained a new family here on Connect. Many of us have or had similar symptoms such as itching, high and low red/white blood counts, excessive platelets, etc…and we are all different ages. We’re all willing to share our experiences and offer encouragement. So please, go ahead with that biopsy and let me know what you find out, ok?
With your platelet level running quite high at 600, that is risky for the potential for blood clotting and heavy bleeding. https://www.medicalnewstoday.com/articles/normal-platelet-count-by-age-chart#why-they-fluctuate
Have your doctors ever suggested being on a blood thinner or on low dose aspirin?
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9 Reactionsrequest a second opinion from a different hematologist. You don't have to continue with a doctor that doesn't work with you.
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4 ReactionsThank you for your thorough response, Lori!
I love flamingos, but am unfortunately in a northern state as well...thinking of warmer days!
I've tried the low dose aspirin on my own; it seemed to make the period spotting worse.
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1 ReactionDear PinkFlamingo,
Wow!! Sorry for what you are going through. I had the JAK2 blood work done because I kept having platelets in the 600 level. I was not feeling sick, but I knew with that level, something was not right. My very astute nurse practitioner was the person to look into this and request the JAK2 test. Bam! She found the culprit and immediately sent me to an Oncologist/Hematologist who agreed with her findings. He put me on Hydroxyurea and a low dose aspirin, to offset the possibility of blood clots and stokes, and ordered a bone marrow test two weeks later, which confirmed Essential Thrombocythemia. Since being on the medication, and by the time I had the bone marrow test, my platelet count went down to the normal range. Unfortunately I had a reaction of getting multiple mouth sores, both fever blisters on my lips, and canker sores within my mouth. The Hematologist took me off the Hydroxyurea for 5 days, then started me back at 4 times a week. That has worked beautifully for me. My understanding of blood cancers is that it is an incredibly frustrating situation to find the balance and proper control. I fervently hope you continue to pursue this avenue you are on, and eventually gain that balance. It sounds as if you definitely have additional issues and like you, I had felt so dismissed by my Primary care physician....because of my age (77) - he said it was an age issue. That nurse practitioner was my saving grace. She investigated multiple things and ordered multiple blood tests, and after ordering the JAK2 test, we finally got the answer. I am feeling much better since that time during this past fall. I am new to this diagnosis and I am so thankful for the nurse practitioner and her interest in finding an answer. I go to her almost exclusively now, except for the required 1 time a year required by Medicare, when I see my Primary Care Physician. I am saying all this to encourage you to continue your pursuit of finding answers. It took me two years. Praying for all your questions and issues to be resolved.
Ginger
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7 ReactionsYes, I meant to get a second opinion from another more prominent center. I also agree to have the bone marrow biopsy which will help diagnose your exact condition and help to devise a treatment plan for you. Don’t accept your doctor’s dismissive answers. Keep asking questions. Wishing the best for you.
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3 ReactionsThose of us with the JAK2 mutation, who have also been diagnosed with a blood disorder or cancer, understand that even oncologists/hematologists are not always familiar with rare disorders/cancers and specialized second opinions are highly recommended.
Know that we are all here to support you, @pink flamingo.
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5 ReactionsIve just been diagnosed with the JK2 gene mutation a few months ago. I'm 75 . I'm a retired nursing Director of Trauma, very aware. always have kept up with the medical information. I noticed a few years ago that my red cell, hematocrit, hemoglobin and platelets kept creeping up. My family Doctor regular response was dehydration. After a TIA and emergency visit, I had the gold standard check up, they found nothing. But I noticed on CBC that the hemoglobin/hematocrit and platlets were now pass the normal range. I decided enough and to make an appointment with a hematologist. He came in the room, sat down and said you don't have leukemia..I was stunned for two reasons, the blood work doesn't support leukemia and I was expecting nothing major was at work.. It was a surreal moment and I hardly heard what he said next. (my husband was with me) He said you have polycythemia Vera.. I had never heard of PV and after reading found it to be very rare..The blood testing came back positive for JK2..This doctor is very kind and I like him personally however, when I ask questions he uses words like transformative etc that throw me off. When I called him on it he said "I prefer using words like this rather than scare the pt. I asked him not to do it with me however he still does. So, I'm also a pt at MDAnderson downtown Houston for followup as I have a history of breast and bowel cancer.(all good) Ive requested a second opinion and will stay there where my treatment in the past has been phenomenal. I live in Houston, Texas and MDAnderson is close. You sound like you're in a quagmire with no way out; a couple of questions to think about, 1. where are you getting medical care? you're positive for Jk2 so you have it and sounds like not getting treatment, it needs to be managed or a good reason for not. It's very rare and most Dr.s have never had a pt with the PV diagnosis..I have a lawyer friend who was diagnosed with JK2 is her 30's and has it managed now into her 70's..I'm suggesting you go to a large well known institution like Mayo, MDAnderson etc. where they have specialist who deal with PV specifically...This seems to be effecting your everyday life and while you struggle....you seem to feel you're not being managed..2) There may be more than one diagnosis. I'm not a doctor and can't diagnose however my experience is PV is considered a blood cancer and needs to be managed and can be for many years...Consider going to a large, academic institution and settle this once and for all. you found your way to this site, excellent ..I'm not saying your current doctors are right or wrong , I'm saying you are concerned and this needs to be put to rest.
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