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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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Good morning @daelitesmom. Glad I had my cup of tea in hand to read through your post…twice! I didn’t want to miss anything. Goodness you’ve had a lot going on the past few years with surgeries, illness, and oy…perimenopause! Not sure what’s the worst!!
Love your sense of humor through all of this, though. Personally, humor has gotten me through all of the worst moments in my life. I think it’s vital to our positivity and longevity to make light out of dark subjects. The reference to Reno, being ‘your owner’, had me nodding in agreement! We delightfully become peons to our pets, large or small…☺️
A little about your ET diagnosis. Mutations, such as the CALR mutation which is behind your diagnosis of ET, isn’t inherited. It is an acquired mutation that ‘happened’ along your life journey somewhere. ET is one of several blood conditions in a group of blood disorders referred to as MPNs or myeloproliferative neoplasms…a mouthful! Here is a good tutorial article to get you started:
From Very Well Health: https://www.verywellhealth.com/myeloproliferative-disorders-5209654
~And this about the CALR mutation; From Biology insights:
https://biologyinsights.com/calr-mutation-associated-diseases-and-prognosis/
You mentioned not having any issues with your blood platelet levels previous to having Covid. Whether or not it played a roll in your diagnosis of Essential thrombocythemia (ET) most likely will never be confirmed. Research is ongoing for long term side effects of Covid and other viruses because evidence already shows some viral infections, such as Epstein-Barr virus (EBV)can create lifelong issues. As an example, EBV can contribute to various types of lymphoma, autoimmune diseases, and specific types of carcinoma.
Source:
https://ashpublications.org/blood/article/146/13/1527/547312/Epstein-Barr-virus-sequence-mutations-cause-human
I’m sorry to read that your headaches are increasing. Headaches can be a symptom of ET but with all your back surgeries this may all be linked. Have you tried any alternative therapies such as massage or acupuncture for your ongoing headaches?
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2 ReactionsYeah... I do tend to get long-winded (my MOM used to call me motormouth) however some details needed to be explained. I started getting migraines once "Aunt Flow" decided to make regular visits when I was maybe 11 however I didn't know what they actually were at the time. Apparently migraines have a genetic component as both of my biologicals (mother, father and my fathers twin) have lived with migraines from a young age (although I can confirm my biological father and his twin never had visits from "Aunt Flow" which simply confirms the genetic component). I had a headache once for three solid months, 24/7, went to sleep with it and woke up with it before my MOM (maternal grandMOM) realized what it was. I blew out a disc in my neck in 2001 at work (along with another disc in my lumbar) resulting in ADRs in 2007 (L5/S1) and cervical in 2009 at C6/C7. My neck went untreated for several years before my surgeon (who's done all five of my spine surgeries over 28 years) decided the disc needed to be removed. Sadly because it was forgotten the damage to my neck as a whole caused my cervicogenic problems. The headaches are my "What Came First, the chicken or the egg?" question: Are the increase in headaches caused by my pre-existing neck injury or my ET?
I have read a few study abstracts connecting COVID and the CALR gene/protein/whatever seeming to indicate that the virus likes to...manipulate CALR however it also could be that due to the number of injuries and surgeries I had in a short period of time (2017-2019) could've also sent "message" to my bone marrow "Hey!! Need some major healing here!", I'll never know I simply find the timing of everything very interesting. I also failed to mention that I also, in 2023, I "folded" my left ankle and I'm pretty sure I broke it (based on the extreme pain and the eggplant 🍆 coloring while it healed) but I never went for treatment and then in August of 2024 in the middle of my thyroid/parathyroid troubles (exploding calcium) and treatment I broke my right wrist slamming it against a stone pillar, I did eventually get that looked at after I finished my deliveries. Again, the timing of everything is interesting to me.
Thanks for the information, I research everything so I am thankful and grateful to you for taking the time to read my "story", providing feedback as well as sharing information.
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1 ReactionWhich symptoms are caused by ET and which are caused by co-morbidities or aging is a crap shoot. I am 71 and have a bad heart valve and severe scoliosis. I have learned to ignore symptoms or take a Motrin. Docs are largely unresponsive unless they can see something on a lab test or imaging gizmo.
I used to get massage, which was VERY helpful, but Medicare won't pay and I can't afford it out of pocket. Yoga I do at home helps a lot.
I have had ET x 17 years. My dad had it (mutation isn't inherited but researchers think the tendency to mutate might be), and ET and ET meds complicated things tho he died of COPD at 82.
The driver mutation often occurs decades before symptoms occur. We've all got theories about what caused it, and it seems common for folks who were diagnosed after having covid or getting an mRNA vaccine to blame that. Likely it was caused by something much earlier, but not worth arguing about. We're all sick no matter what it was.
I am also CALR with deletion. My preoccupation at diagnosis was with the odds of progression to MF or full-blown leukemia. Doctors hedge, partly because there are a lot of factors. Progression may be affected by mutation type, allele burden, and how long you have had ET.
CALRs do have fewer clots than JAK2 patients. So there's that.
Best of luck to you!
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3 ReactionsSo the day after I received my "official" diagnosis (on paper) I had an appointment for my botox injections in my neck for cervicogenic headaches and my neurologist noticed I had a blood clot in my eye, can't even tell you how long it's been since I'd had one of those. Last night I realized I have another another one, what are the chances of having two blood clots in an eye in six months?? Is this "normal" or is this just an (in the tone of my MOM) "Andria you're so weird!" thing??
@daelitesmom having blood clots anywhere isn’t ‘normal’. I don’t want to alarm you but it also raises the possibility of a stroke.
Since you’ve been diagnosed with ET (having too many platelets) and you’re only taking baby aspirin at this time to avoid clotting, your hematologist may want to re-examine your treatment plan.
Has your hematologist been notified by you or your neurologist that you have had 2 blood clots in your eyes within 6 months of each other?
@daelitesmom Just a follow-up question to my last reply https://connect.mayoclinic.org/comment/1457690/
Regarding the blood clots in your eye. You mentioned your neurologist noticed a blood clot in your eye at a previous visit. I’m curious how he discovered this. Did he look into your eye using a Slit lamp or ophthalmoscope? How did you notice you had a 2nd one within 6 months? Did you have a vision disturbance or lose sight in the eye?