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CALR exon 9 mutation w/translocation of chromosomes 10 &13
I'm 57 (58 in February 2026) and was diagnosed with essential thrombocythemia about six months ago, after genetic testing it turns out I have a genetic mutation CALR exon 9 with the translocation of chromosomes 10 &13 which is apparently unusual. Up until April of 2019 I have always had normal platelets, between 100 to 250, up to 2019 I'd have five spinal surgeries (last on in April 2019) along with a fall in 2017 where I broke 10 bones (left collarbone, seven ribs on left side, punctured lung and two bones in my left foot) and was hospitalized for 15 days...entire time normal platelets. About six weeks after my next to last back surgery I was kicked by my owner Reno (he's a paint gelding...horse) and broke my leg and had to have an ankle repair, again normal platelets. At the same time I was also in perimenopause, then COVID 19 hit, in 2021 I started not feeling well and had swelling in my neck which turned out to be my parathyroid which exploded my calcium numbers resulting in me having a parathyroidectomy in 2024 and during the procedure my calcium levels dropped instantly. At the same time my platelets started going up to the 600k however it wasn't noticed as it seemed it was connected to my hyperparathyroidism. In the fall of 2024 my left side started hurting and I had a backache I couldn't get rid of (after 30 years of back pain and five spinal surgeries I had a lot of experience) so I went to my primary who ordered regular blood work and an ultrasound of my abdomen specificallylooking at my kidneys for kidney stones (due to high calcium), the blood results came back in the 700k and I was referred to hematology oncology and more blood work was ordered along with genetic testing. The Ultrasound of my kidneys, liver and spleen all came back normal but the genetic testing showed this CALR exon 9 mutation with translocation of chromosomes 10 & 13. I did also have the bone marrow biopsy which confirmed everything but something strange happened: when they checked my clotting time that morning it was around 16.4 and when the person doing the biopsy called my oncologist they both said that was bizarre considering my ET diagnosis so the test was repeated two hours later and it was about 4....there was speculation that maybe the lab tested someone else's blood which meant maybe someone else might be in trouble but as far as I know there is no explanation of the clotting time discrepancy. The other fun thing was I highly sensitive to a number of opioids that would be used for mild sedation especially their drug of choice Fentynal so they ended up injecting lidocaine all around the biopsy site. The technician was only able to take a sample of my platelets and could NOT get a core biopsy. My current "treatment" is baby aspirin and iron due to me being anemic. For added fun my migraine and cervicogenic headaches have increase (under the care of two neurologists for both: emgality every month, amitriptyline every night and botox in my neck every three months) so I'm going to be starting magnesium this week. There's been some conversations about the cancer drug hydroxyurea but my oncologist is not wanting to start that immediately until absolutely necessary due to the potential long term effects and my age... too young. I also am trying to control my platelets with OTC, diet and lifestyle changes: control diet, water, exercise, etc.
I'm of the mindset that since this was caused by a genetic mutation (always knew I was a mutant 😉😆) I'm not stressing about it, I have decided to inform my half siblings (mother's side/father's side, minus one) and their kids just so they know it's something to pay attention too, I have no children of my own.
I find it interesting that I've always had normal platelets up to 2019, never had a problem with blood pressure, etc until after COVID 19. I did have four moderna COVID vaccines, and may have had mild COVID (even though I tested negative) when my boyfriend had COVID (we live together). I had severe back pain (my skin hurt) and it hurt to breathe almost like when I broke seven ribs and punctured a lung...lung spasms are HORRRRRRRIBLE!!! At the same time I was in perimenopause and then menopause and my thyroid and parathyroid were going crazy. My belief is that this CALR exon 9 mutation was "activated" (for lack of a better term) due to COVID or a combination of COVID/vaccines/menopause/hyperparathyroidism all due to the timing of everything.
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Not applicable to your situation, which might be a broken blood vessel in the eye. But general info for ET patients: My eye doc is the brother of a friend and interested in ET. He suggested a yearly exam just to check for clots with that too-bright scope gizmo. Often clots are not visible to the naked eye. He doesn't do the whole eye exam if I'm seeing ok, just checks for clots. My husband got the broken blood vessels in whites of his eyes from blood thinners after his heart attack. They were scary but not life threatening.
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3 ReactionsGood morning kids and hope you all had a Merry Christmas!
So a small update: As I'd indicated before my headaches had increased especially in the morning and when I contacted my neurology nurse she recommended I start taking magnesium, I also contacted my oncology nurse and she was intrigued by the idea especially since magnesium also decreases platelet counts so I started with 250mg. My headaches did decrease intensity however they were still there, my neurology nurse suggested I take 500mg originally but I started at 250 for two weeks. A week ago I increased to 500mg and not only have my morning headaches decreased I'm also sleeping better. My oncology nurse ordered more bloodwork to check my platelets after a few weeks of being on magnesium and I'll be getting the bloodwork done in about a month (due to the initial start at 250mg and then increasing to 500mg).
I see a lot of you on the hydroxyurea even though you're under 60 years of age and even under 50 with platelets at 600k, my hematology oncologist (the first one and now the second) did not want me to go on hydroxyurea due to my age, at 57 they both said I was "too young". My last platelets were in the 700k.
I'm hoping the magnesium is helping lower my platelets and for now I am feeling really good especially first thing in the morning with a decrease in headaches. My BP is still high which still blows my mind as I've never had a problem with my blood pressure until the last years when I started having issues with my parathyroid, etc.
(Now if I could get rid of my annoying static tinnitus!!)
Hoping 2026 brings us all better health!!
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1 ReactionNow I'm in a bit of a panic. Just received an message from my oncology nurse and she wants me to get bloodwork this week to check platelets and if they're high she wants me to start hydrea....
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1 ReactionHi @daelitesmom,
I prefer to decline Hydrea as well and have never taken it. I take daily low dose aspirin as I do have high platelets, but I cut back when I had surgery on my Melanoma insitu the dermatologist found recently on my facial cheek on December 4 and then had more removed December 19. That second procedure had good result which came back clear of any cancer cells thankfully. I have CALR1 mutation. Please let me know what you find out about your platelet level after more magnesium. I just take a daily multiple vitamin which I assume has a small amount of magnesium. No one ever suggested magnesium to me. Did you have lab work first for magnesium level that found it low? My O/H did lots of blood work on me but no vitamin level checks on me. I am changing to a new insurance January 1 as I am not happy with what I chose at 65. They diagnosed me January 2O25 with MPN but changed which one February 2025 when I asked how they knew and they did bone marrow biopsy. I have no symptoms still and feel fine. My pelvic CT scan they ordered showed my spleen size normal. My BP is normal daily as my current primary doc has me take it each morning, but my systolic BP spikes at doctor appointments. After my terrible choice for a first primary doc who canceled four appointments with me and never saw me but prescribed hypertensive meds for me without ever seeing me, I found this different decent primary doc who diagnosed me with White Coat syndrome. I hope I made a good choice for my new primary doc with the new insurance I chose for 2026. I would just like to start over and hope they address my nonpainful right ring finger very large proximal phalangeal joint which was my chief complaint when I started with my former insurance. I figure no insurance plan could worse that what I chose formerly. I guess they were decent in the sense they ordered tons of tests on my that were covered and not out of pocket. They just did not listen to what my chief complaint was and found other things to focus on.
Thanks for reading my complaints.
Wishing you and all others in this group as the best in 2026!
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3 Reactions@1pearl My oncology nurse wants me to get new bloodwork soon due to me taking the magnesium which I've increased to 500 mg. Funny you should mention your your pinky joint!? Maybe six weeks ago I noticed the first joint on my left pinky (I'm right hand dominate) swelled up, was warm to touch, painful, itchy and a slightly different color now the joint is more purplish with a small bump. My thinking, based solely on researching the "symptoms" is it's gout but it doesn't have white "dots" or pearl like bumps . I sent a photo of it to my oncology nurse because initially I thought it was a blood clot.
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1 ReactionHi @daelitesmom ,
I just had blood work with the insurance I am leaving on January 1. As usual I have my high platelets but not the highest they have been. I feel fine and just hope the biopsy wound from second one done by surgeon that came back clear margins heals decently on my face. I thought he was going to do Moh’s as my first biopsy came back melanoma insitu but he said it was very superficial. He did not do Moh’s which is fine if it heals decently on the side of my face.
My right ring finger proximal phanalgeal joint remains huge but does not hurt at all and is not red and not warm or itchy. It has a huge mass of “gushy” material under the joint towards my hand on the front which I hope my new insurance will do a needle biopsy on to see what it is. If it would be drained out it would be so much better but insurance I am leaving just could not do that for me. I even brought them a recommendation to do that from my former insurance after MRI. They did their own MRI and disagreed. So I will try another insurance soon.
Hope you get an answer from your oncology nurse soon.
Happy Almost New Year 2026!
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1 ReactionSmall silver lining????
Since my dx of ET I've had an increase in my headaches (migraines & cervicogenic) especially in the morning however it could also be a "chicken or the egg" scenario too. About two months ago I contacted my neurology nurse and she recommended one of two things: increase my amitriptyline to 75mg or try magnesium 500mg, I do not want to increase my amitriptyline because of the weight gain (when on 75 my weight blew up to almost 200#) so zi opted for the magnesium but I started at 250mg at bedtime (wasn't sure what magnesium would do to me). However before I started I researched and noted magnesium also is supposed to decrease platelets so 🎊 BONUS so I contacted my hematology oncology nurse and she agreed with the magnesium. I started with 250mg and noted my headaches (both types) decreased slightly. After a few weeks I increased to 500mg and within a few days I noticed I started feeling so much better1 and I wasn't waking up with headaches. A few days ago I changed from just 500mg of magnesium to a 12-in-1 of magnesium (different forms of magnesium) elementals and 🤯: NO HEADACHES, I'm sleeping better and overall feeling so much better! My hematology oncology nurse has ordered more bloodwork to check my platelets but I'm waiting to be on the magnesium a bit longer and then I'll get the bloodwork done.
Having no headaches of anytime is a major bonus for me because for a long time I've lived with headaches bit for right now I am THRILLED!!! If it helps my ET then BONUS!!! I just now I am feeling so much better.
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2 Reactions@daelitesmom I have ET with the JAK2 mutation and suffered from monthly migraines after having them stop when I hit menopause 15 years earlier. When my platelets fell to within normal range, the migraines stopped and I have not had one since. I was diagnosed in October, 2023. I agree totally that the elimination of migraines is the silver lining to treating ET.
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3 ReactionsEvening kids...
Well...Had bloodwork done yesterday and my platelets increased from 788k on November 5 (2025) to 830k January 5 (2026). I am obviously shocked, discouraged and sad because I was hoping the magnesium would've helped to reduce even a little bit.
This morning my hematology oncology nurse called and she says with them increasing the doctor recommended I start on hydroxyurea "baby dose" of 500mg, must be a big "baby". I will start tomorrow night. I am continuing the magnesium 500mg daily because, at the very least, it's helped with my headaches. I am very discouraged, I don't want to be on a chemotherapy drug for the rest of my life!!
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3 Reactions@daelitesmom
Of course you feel discouraged! It's awful when our own blood turns against us.
It's really hard to take that first capsule of HU.
I can only hope that, through this forum, you'll see that many of us have found HU to be really helpful.
For me, it's brought relief from the debilitating headaches and fatigue of ET.
Here's to getting those platelets under control!
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