@birgitr
Birgit, I'm not as experienced as Lori and some of the others as I was only diagnosed with JAK2 ET in April 2025 (from tests; no symptoms so far), but I'll share what my hematologist/oncologist said to me in hopes it will provide some reassurances. (If I've already done this please excuse. I've replied to several different discussions of ET on the Mayo forums!) Of course everyone's bodies are different but from the many things I've read about ET my doctor's comments seem reasonable and in line with others'. Hopefully you have good communication with your specialist.

He said the cause of the gene mutation is not known and they don't know how to prevent it. He said it is not passed to my children and I didn't do anything to cause it. They can't cure ET but it can be managed. He said many people live normal life spans with the disease. He also said in rare cases it can change into a form of leukemia, but there is no known way to affect that and if it should happen we'll treat that at that time. I think he said the chance is only about 5% for eventually progressing to leukemia. ET occasionally also progresses to the marrow condition (fibrosis?) some have mentioned but it usually does not. (I'll cross those bridges if I ever come to them. In the meantime I'm not worrying about them.) Also, he said ET is technically a form of blood cancer (because it involves uncontrolled growth of cells), but it is not a cancer that spreads to other parts of your body nor forms tumors. He said he prefers to call it a blood disorder, and I do, too. I think until fairly recently it may have been classified as a blood disorder.

He told me the main danger from ET is that a very high platelet count might cause blood clots which can cause a stroke or heart attack, so preventing that is the goal. He said the focus is on keeping the platelet count in an acceptable range. He also advised me to take a low-dose 81 mg coated aspirin daily to make the platelets more slippery and less likely to clot. He said because of my age (77 at the time of diagnosis) and family history I'm already at a higher risk for strokes and heart attacks. Often younger people with ET are only monitored for awhile with no intervention.

He also said if my platelet count got above 600,000 he would prescribe hydroxyurea (HU) to lower my platelet count. This month my count reached that for the first time and I have been on HU, one 500mg capsule daily, for almost two weeks. I'm not experiencing any side effects from it so far, although it's early in my treatment. He told me this is a chemo pill, but one that is tolerated well by most people, so not to let "chemo pill" scare me. It doesn't make all your hair fall out nor cause nausea and vomiting in most people, especially at the doses commonly given for ET. (Many children with sickle cell disease take it safely for decades.) He said for most people it is simply "a pill you take."

I'll go back in a few weeks for another blood count. He said HU can also decrease red and white cell counts, which I don't need because those are fine, so dosing may be a balancing act. I asked him if I could start with a low dose, and he said 500mg a day is a low dose.

He is very patient, answers all my questions, and has presented my new disease in an optimistic light. I'm thinking of it as an unwanted chronic condition that will have to be managed from now on, such as things like high blood pressure, kidney disorders, etc. I wasn't happy to get the diagnosis but I'm very thankful that I can live my daily life with no detectable symptoms so far. I feel very blessed and am thankful treatments exist to help with controlling this condition. My faith in God is also a huge comfort and strength for me. I go about my daily life as usual and don't dwell on my ET. I focus on positive things and all my blessings.

In all the research I've read, HU seems to be the accepted first line of treatment for ET and the one with fewest side effects for most people. Therefore I have no reason nor desire to ask him about alternate medications at this point. If a problem develops later we can discuss that then.

My primary care physician increased the aspirin to two low-dose a day because of another health concern. The only other change I've added is that I am taking a low over the counter folic acid supplement, after reading that several hematologists recommended to others with ET that folic acid can help protect red blood cells. I forgot to mention that to my doctor but I will.

Of course healthy lifestyle habits such as good nutrition, drinking lots of water, and exercise help our health overall, but I've run across nothing that is going to be a treatment or cure for ET, unfortunately. It needs to be managed by a competent doctor if platelet levels are too high.

Sorry for the length of this post, but all these things are why I'm not overly worried or stressed about my diagnosis. I hope the information will be somewhat helpful and comforting to you as well. As suggested, it may be good to ask your hematologist about your concerns.

Prayers and best wishes for a good outcome for all of us here!