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Essential Thrombocythemia: Looking for information and support
Blood Cancers & Disorders | Last Active: 3 hours ago | Replies (703)Comment receiving replies
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.
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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.