Essential Thrombocythemia: Looking for information and support

Thank you Lori! I will review the recent link on Jak2 mutation and check back in.

Hi my name is Pam. I was diagnosed in April 2023 from a routine blood test.
My platlets were in the 700’s I was referred to an oncologist who put me on 1 baby aspirin daily. He ordered blood work which came back positive for Jax2.
I seen him again in August my platlets were 920. He only wanted me to take 1 aspirin daily. I also was having neck surgery in October and he said I would be fine to go ahead with surgery. I had surgery on October 10th. Neck surgery C4-T1. The surgery went well. I spent two nights in the hospital. I went home on the 12th. On the 13th both arms were hurting bad. I went to ER and was admitted. They did an MRI and there was a blood clot pressing on my spinal cord. I had a second surgery on the 14th. I went home on the 16th. I’m doing really good now. On November 17th I went to see my oncologist. My platelets were 466. They ran my blood twice. It came out 466 both times. They asked me if I had been doing anything differently and the only thing is that I have a lot of people praying for me. I go back to see him in February. I will keep you all posted.

Hi @taisaint, You’re absolutely in the right section…no worries. ☺️. You have a great daughter who encouraged to you get a checkup with the symptoms you were experiencing. Why is it we mother’s tend to drag our heals when it comes to our own health?
You’re very active and otherwise healthy, so I’m sure this really came as a shock to find out you have a blood disorder. Believe me, it’s not caused by anything you did or didn’t do. I can relate because a similar thing happened to me out of the blue. I was super healthy and active too…then I wasn’t! Being special isn’t all that it’s cracked up to be, right? I’d rather it came with a tiara than pills! 😅

Thank you for sharing more information. With the biopsy your doctor was able to determine factors that influenced their decision for treatment. The acquired JAK2 gene mutation is the culprit in your diagnosis. To explain things clearer than I can, here’s a good source of information regarding the JAK2 Gene…

You’re wondering why you are not a candidate for a phlebotomy. That may still be a possibility to bring down the amount of red blood cells and hematocrit in your body if warranted. There are certain parameters for indicating this procedure and your doctor will have reasons for not doing this first. They may be waiting to see how the hydroxy impacts your blood counts.

Having faced a ‘special’ diagnosis myself, one thing that is important to remember; This doesn’t define you! Stay active, follow your same routines and keep a positive mindset.

Have a Happy Thanksgiving. Do you have a large family gathering?

HI Lori - I hope I am replying to the right section. If not, please advise. More about me... I was recently diagnosed as of 11/13. My daughter (25) encouraged me to get checked out b/c I would experience inconsistent and random fatigue and recently my feet began to swell and were tender to touch. I salsa dance 4 days per week and attributed my feet to practice. After receiving a full CBC with my primary, I was referred to a Hematologist. The bone marrow biopsy determined Jak 2 mutation and that I have both PV and ET with an iron deficiency as well. I knew I was special and both both rare disorders [insert sarcasm here]. I am 45, and to my knowledge, live a majority healthy and somewhat active life style. I try to eat healthy and splurge in moderation. This is such new diagnosis for me, I am trying to learn more about my conditions. The current treatment plan is Hydrea and daily dose of Aspirin. I submitted a inquiry with the Hematologist b/c I am not clear why I am not a candidate for Phlebotomy.

Good morning, @taisaint. Welcome you to Mayo Connect. You’ve recently been diagnosed Essential thrombocythemia and Polycythemia vera.
Both of these are blood conditions where your bone marrow is producing too many of a specific blood cell. In the case of ET there are too many platelets which can cause clotting issues. With PV there are too many red blood cells which can also have its share of problems.

I’m posting links to a few articles below to get you started on information. The articles are from Healthline.com. They are well written and give a good overview of ET and PV without overloading you with more than necessary at this point.

https://www.healthline.com/health/primary-thrombocythemia
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https://www.healthline.com/health/polycythemia-vera
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Both conditions of PV and ET may be indications that your bone marrow, which is the central blood manufacturing site of body, is compromised and not able to produce healthy blood cells. Both are symptoms of what is called Myeloproliferative neoplasms MPN. There can be changes taking place in the bone marrow which can alter the normal DNA division to allow for uncontrolled cell division.
Here’s more on this disorder and how it relates to PV and ET.
https://www.healthline.com/health/cancer/myeloproliferative-disorders

Do you mind sharing a bit more about how you were diagnosed? Have you had a bone marrow biopsy or blood work for possible mutations? Were you having symptoms or was this found with a routine cbc?

I am interested in resources for ET. I am newly diagnosed with ET and PV. All info is appreciated.

I have a similar diagnosis. At 49 yo I was diagnosed with ET. I am 69 now. So I have had it for 20 years. In the past few years I was found to be triple negative in gene mutations. I have been on hydroxuria for the past 10 years. The dose varies but mostly 1000-1500 mg per day. Platelets hover around 600,000 to 800,000. The docs seems comfortable with this. I take an aspirin 81 mg daily. My advice is keep moving, stay well hydrated, eat healthy, limit alcohol and see an expert in this rare condition. I occasionally go the Mayo in Arizona to see Jeanne Palmer MD. I get my blood drawn once a month and see a local oncologist every 6 months. Good Luck. I will send you an excellent resource.

Similar story here! about to check in with Hemo and wondering if she will order BMB, NGS or any others to ascertain the diagnosis. living through anxiety, no medications, pain and wondering what the right nutrition plan would be for someone in my condition.

That makes a lot more sense! Thanks. Yes, magnesium is checked. Since it seems to happen only in sporadic cycles (several days running, perhaps a week) I've learned to live with the cramping though it's very annoying to those around me.

Hi @rubles, Both thrombocytopenia and thrombocythemia are conditions relating to platelet levels in the blood. One is too few platelets. The other is a condition where there are too many. Both have their own set of issues.

Here are the differences:
~Thrombocytopenia is a condition where you have a low blood platelet count.

https://www.verywellhealth.com/what-is-pancytopenia-2249143
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~Thrombocythemia is a disease where your marrow makes too many platelets.
https://www.hopkinsmedicine.org/health/conditions-and-diseases/thrombocythemia

I know that you’re dealing with quite a few health issues at one time which can certainly complicate your treatments. Have you considered trying to get an appointment with a larger university or teaching hospital, or Mayo Clinic where doctors tend to work collaboratively in each specialty to find answers to your health problems?

Here’s a link to request an appointment with Mayo. http://mayocl.in/1mtmR63

Another option depending on where you live. Mayo Clinic has Care Network Members where they work with some clinics across the country who meet with the standards set by the Mayo Clinic. Here’s the map showing the facilities. See if there is one near you.
https://www.mayoclinic.org/about-mayo-clinic/care-network/network-members

Is the Thrombocytopenia a new diagnosis? How are you doing with the kidney disease and your ostomy? How long ago did you have the ostomy surgery?