Essential Thrombocythemia: Looking for information and support

Hi again @crsimon5 ,
That is so great you actually got to see the doctor who made the podcast. You are in very good hands there. I thought I was seeing an expert here, but that just did not happen! She even informed me there were no trials I could be it! I am not interested in being in one now, but I really do not think she was giving me correct information. A year ago August, with my former insurance, that O/H who diagnosed me sent me to a bone marrow specialist. It was a very long drive, but I did see him. He told me I would need to check with City of Hope (where he works half the time) to be in a study there. I do believe he was telling me the truth as I later read later that City of Hope is one of two places in CA doing the CALR Incite trials. He said I did not need a bone marrow transplant now and may never need one. I hope to stay in the never need one category.

@1pearl Yikes that is creepy and I'm so sorry to hear that. The new trials that were explained to me were drugs that use the body's own T-cells that attach to only the mutated cells. I would agree that the current options for cytoreduction, including hyurea, are not a direction I'd like to go. The doc at JH did say that Besremi would be approved by the FDA as a treatment for ET and that was supposed to happen in August. According to another poster below, looks like that's happened. She said Besremi would be something she would prescribe and that the medical community is moving away from hyurea as a standard course of treatment for ET. Just sharing what I learned. I will pray for us both that we remain stable for as long as possible, or whatever "stable" means with this disease.

There was some regulatory update regarding treatment option I posted in another thread https://connect.mayoclinic.org/discussion/essential-thrombocythemia-treatment-with-besremi/. I am copying here hoping for broad awareness. BTW, Besremi has been very effective for me so far!

"today 8/31 FDA just approved Besremi for ET treatment (any ET type). Patients who haven't received any cytoreductive therapy like HU can access too. This will certainly help on insurance side. I encountered a lot of troubles when my hematologist prescribed Besremi. My insurance initially did not authorize it as it was not approved by FDA yet. It took quite documentation and convincing before I got Besremi. The news link: https://www.fiercepharma.com/pharma/cusp-pharmaessentia-gains-fda-label-expansion-besremi
Just wanted to share with the group."

Hi @crsimon5 ,
Thank you for sharing your story in detail. I have CALR mutation also, but just turned 67. I was diagnosed with ET 1/2025 after being referred to O\H because routine physical showed high platelets and slightly high white cells on lab work. I asked for a bone marrow biopsy(which in hindsight was not wise) and it showed some scarring so that same O/H changed my diagnosis to primary myelofibrosis and wrote, “you might be transitioning to overt myelofibrosis now”. She may have thought that because the STAT lab work that day right after the bone marrow test, my red cells were low and my platelets had gone down 400 with me taking nothing and doing nothing differently. Her second diagnosis was disturbing to me, but I really did not believe it. I repeated my bloodwork about three months later and it was back to high platelets, normal red cells, and slightly high white cells. I repeated my labs right before seeing the MPN specialist in July and my lab work remained the same, high platelets, normal red cells, and slightly high white cells. I have absolutely no symptoms to this day a little over a year and a half since being told I have blood cancer and had none then either. I saw a MPN specialist this past July and that was not a positive visit like yours was. The MPN specialist had not even read my chart and thought I had JAK2 mutation! (probably because that is the most common mutation plus she is an expert in it and claimed she helped discover the JAK2 gene when she was a student at Stanford) I showed her my copy of my NGS report (which she obviously had not read in my chart) which showed CALR and no JAK2 mutation and she acted like it was bad data and she wanted to repeat it there. My insurance covered only a consultation with her that day and I did not care to pay for testing again there, even if it was covered by my insurance, as I honestly felt it might be adjusted to show what she wanted to find. That is how creepy my visit was there and I will not ever be returning. I continue doing my busy daily routine which includes lots of exercise, following a Mediterranean diet, and remembering God will do things according to His plan. I know there are many new developments happening in CALR research and trials and if I ever get symptoms, I might be inclined to take something specifically found to benefit CALR mutation rather than a med for just cytoreduction which I do not take and have never taken.
Thank you for listening and providing the link.
Wishing you a blessed day.

Just want to add my $.02 here because my ET journey has been an interesting one. 58 yo female diagnosed with ET after a routine blood test indicated high platelets; after a retest 3 weeks later, they were higher. Was referred to a hematologist who acted like this was no big deal but after a bone marrow biopsy she diagnosed me with MF because of some scarring, which was a bit more serious. Needless to say I totally freaked out and my mental state was so bad I had to start seeing a therapist for anxiety. I requested and was granted a referral to Johns Hopkins in Baltimore, which is about 45 mins from me. I met with a doctor who is the principal clinician in the trials focusing on this disease. It was the best hour I spent with a doctor in my whole life. She rediagnosed me with ET, not MF, based on the numbers she was seeing. She said it was quite common to see some scarring in the bone marrow of ET patients. I'm on watch status now and am finally starting to get comfortable with this weird illness. Based on what I learned at JH, there was some data to suggest that the exposure to cause the mutation could have been in utero. There was no long term data on that but there is some thinking that some of us could have been born with this. I was wracking my brain trying to figure out how I could have gotten this but I've stopped driving myself crazy. My mutation is CALR at 30%, which means that 70% of my CALR cells are normal. I have no symptoms but at one point I did experience some tingling in extremities but that has passed. As "rare" as this disease is, I feel like there are lots of people here seeking information and there are new diagnoses every day. The great news is there is also some data to suggest that the Mediterranean diet is good for easing symptom load, so that's what I do. I also do walking and yoga to ease my tension. There are lots of clinical trials happening now that are producing really great and exciting results. There will be additional hope for better treatments on the horizon over the next 2-3 years. What helped me is to get the facts from a specialist. I'm fortunate that I have that resource but another great place to go for info is MPN Research Foundation. My doc at JH did a podcast which is also great: https://thebloodline.org/218e217/. I hope it's helpful for any of you here.

@halimec

There's been a surge of ET among veterans exposed to burn pits in the Mideast conflicts. Other ETrs have a history of working with industrial chemicals.

It's likely numerous triggers spark the mutations that drive ET.

Hello, I was wondering about research done on the possible environmental causes of essential thtombocythemia. I tested positive for JAK2 three years ago and have been on Hydroxyurea 500mg pills for the last two years. I notice a steep decline in my platelet count each time I am overseas for more than a month. At first, I thought it sheer coincidence, but this is the third time it has happened. Has anyone had a similar experience? I've come across some research on the possible connection between radon and essential thrombocythemia. Has anyone looked into other types of research on the impact of the environment, such as water quality and ET?

@garyr443 Cancer is where cells grow out of control - as such MPN's are cancer as cells/cell products are out of control. We are fortunate in some ways as we do not look like we have a disease and typically will not die from this as long as appropriate treatment protocols are followed. After three stints in the hospital as I was starting a trial, I really feel fortunate; I was on the blood disease floor (BMT, leukemia, lymphoma). I was able to freely walk the floor and getting glimpses in the room of others really made me thankful, as our journey, while not great, could always be much worse.

@garyr443 LLS is now Blood Cancer United ( https://bloodcancerunited.org/ ). And it does have a large number of resources available. There are a number of resources available such as booklets, financial support, dietary support, events (such as conferences, light the night, Shred the Red, and many more), and one that is good as a peer-to-peer discussion ( https://bloodcancerunited.org/resources/patients/peer-to-peer-support ) where you can visit with another that also has ET (or at least an MPN since we are a rare animal).

@nohrt4me
Could you cut and paste the Washington Post article here? Can't click and read it unless you subscribe to the Post. Thanks!