Need help newly diagnosed with a high platelet count and the JAK2 gene

Hi @lindagualtieri, Welcome to Connect. Looks like you’ve been dubbed with a new diagnosis and have lots of questions. You came to the right place! There is a quite a robust Essential Thrombocythemia support group in the forum and members are more than happy to help you out in your quest for information. Until they chime in, I can help get you started with some basics of ET.

As you’ve already discovered, ET is a condition that causes the over production of platelets. Though it can include other blood cells and is part of a group of blood disorders referred to as MPNs or, myeloproliferative neoplasms. The acquired mutation of the JAK2 gene can cause a disruption in the metered production of cells, allowing the bone marrow to churn out an over abundance of one or more types of blood cells.

Your aunt had PV, which is another disorder also in the group of MPNs. Her situation involved the over production of Red blood cells. While MPNs aren’t necessarily hereditary, from my understanding, there can be some familial genetics at play which allow for more susceptibility for the JAK2 mutation.
But you don’t have to live in fear of this condition. It is generally treatable and manageable.

I have a couple of go-to articles which can be helpful in learning more about your blood condition. Here are 2 of them:

Very Well Health.com
https://www.verywellhealth.com/essential-thrombocythemia-2860907#:~:text=Essential%20thrombocythemia%20is%20a%20rare%20blood%20cancer%20that,potentially%20life-threatening%20complications%20like%20heart%20attack%20or%20stroke.
Leukemia & Lymphoma Society
https://www.lls.org/myeloproliferative-neoplasms/essential-thrombocythemia
I found this nice “Cheat Sheet” from our Mayo Clinic website for patients with Thrombocytosis (ET) with questions to ask:

For thrombocytosis, questions to ask include:
What tests do I need?
Is my condition likely temporary or chronic?
What treatment do you recommend?
What follow-up care will I need?
If I have other health conditions, how can I best manage them together?
Should I see a specialist?
Do you have brochures or other printed material that I can have? What websites do you recommend?.
You can also ask if you should see a MPN specialist!
~~
What to expect from your doctor
Your doctor is likely to ask you questions, such as:
Have your signs and symptoms worsened over time?
Do you drink alcohol? Do you smoke?
Have you had your spleen removed?
Do you have a history of bleeding or a lack of iron?
Do you have a family history of high platelet counts? (In your case, you mention your aunt had PV)

It’s understandable to feel scared when you know nothing of this condition. But education is power and you’ll see by visiting this site that we have so many members with ET who live healthy, active lives, such as @nohrt4me @1995victoria @mamsgirl1998 @debhammel @janetbender @dkmitchell, just to name a very few!

Another discussion that might be helpful and encouraging to read through is this one: Essential Thrombocythemia: Making treatment decisions https://connect.mayoclinic.org/discussion/essential-thrombocythemia-4/
(More can be found by typing in ET or Essential Thrombycythemia or JAK2 Mutation in the top search bar. Tons of discussion will pop up for you)

Good luck tomorrow with your appointment. You may have more questions after your consultation. We’re here to help you out…
Is this your first time meeting the hematologist?

Thank you so very much for the information....I am so appreciative.

Sorry, I forgot to answer the question regarding the number of visits. I have seen him twice, tomorrow will be my 3rd time as we are going over the results of my bone marrow biopsy. I love this guy, but he is leaving the Cleveland Clinic on Friday to go to another hospital in Virginia...bummer for me. Anyway, I have no idea what he is going to tell me, I will let you know tomorrow. Thank you again for your response, I just joined this morning, and it is much appreciated.

Hi, diagnosed with ET (CALR) mutation ) age 60, but onset about age 55. My dad also had ET. He died at 82 of unrelated COPD. I am 70 now, and I take daily oral chemo (hydroxyurea) to keep platelets in 400s. I tolerate the hydroxy very well. Most people do.

Fatigue/stamina is sometimes a problem, but my teeth (ugh, crowns), scoliosis, and hearing are bigger daily quality of life problems than the ET.

Allele fraction estimates how many of your cells carry the mutation. A bone marrow biopsy will show the degree of fibrosis in the marrow, if any. When I was diagnosed, researchers were not sure how any of that might be important, but it might be helpful down the road as more is known about MPNs.

Best questions:

1. What are the treatment goals for ET?

2. What meds do I need to control the ET now or in the future?

3. How often will I need blood checks and appointments with a hemo?

4. Are there any "danger sign" symptoms should I report to you?

5. What is my long-term prognosis?

6. Do you recommend any diet/exercise changes?

Write these q's down, let the doc give his spiel, take notes, and ask if the above are not covered after the spiel.

Since yr doc is moving, ask whom he would recommend that you see and ask if his office can arrange that.

Breathe, breathe, breathe. Chances are you will live long and prosper!

Thank you great advice!!!!

I was scared to death when I learned I had ET.

Learning from this forum helped so much.

And after almost a year on low-dose aspirin and hydroxyurea, I am doing great.

Others here are going strong decades after their diagnosis.

We’re all rooting for you!

Hi everyone and thank you for your support. I went for my follow-up today and was officially diagnosed with ET. Doctor would like me to go on hydroxyurea immediately. Have no idea what to expect. Doctor said I may have several side effects, however, I wanted to reach out to everyone and see what experiences everyone else has had on this drug (because I have heard good and bad), before I start freaking out. Dose would be 1 pill seven days a week for the rest of my life (have no idea what the dose is yet), because this is all being put through insurance as I speak. I will have to get bloodwork every week for the first month. Any advice on side effects...I still work full time and just don't have a clue as to what I should prepare for or tell my employer. Doctor mentioned: rash, ulcers in the mouth, nausea, diarrhea, fatigue (any insight would be most helpful) thank you!

Hi Linda. Hydroxyurea is a standard first line treatment for some blood conditions such as ET. The hydroxy can help curtail the over production of white blood cells associated with essential thrombocythemia. I know the thoughts of taking a new medication, especially one that’s classified as a chemotherapy drug can stir up the anxiety. The side effects for most people seem to be minimal with fatigue being the more common among the experiences shared on Connect. I’ve found three related discussions you might want to scan through. More can be found by typing in Hydroxyurea for ET or Hydroxyurea or HU in the search bar at the top of the page. You’ll see a huge list of conversations about the medication.

Here are the links…don’t hesitate to pop into any conversation! 😉
What are most common side effects of hydroxyurea?
https://connect.mayoclinic.org/discussion/hu-side-effects/
~~
How fast do you start to feel hydroxyurea symptoms? https://connect.mayoclinic.org/discussion/how-fast-do-you-start-to-feel-hydroxyurea-symptons/
~~
Any suggestions on what time of day is best for taking Hydroxyurea? https://connect.mayoclinic.org/discussion/any-suggestions-on-what-time-of-day-is-best-for-taking-hydroxyurea/

I’m not sure if you really need to say anything to your boss or not. Under the HIPPA laws, that’s really not necessary but certainly your prerogative. There is a recent conversation started by one of our members who had a bone marrow transplant several years ago. She asked the question about whether or not she needs to inform her new supervisor of her medical history. This might be interesting for you to read through too:
Do you share your medical information with your boss?
https://connect.mayoclinic.org/discussion/do-you-share-your-medical-information-with-your-boss/
Was your doctor helpful in explaining about ET?

Hi Linda,
I am 80 and have been dealing with ET JAK2 for over two years. The standard dose of HU (Hydroxyurea) is 500 mg capsules. I have taken one at different timeframes. I started one daily…had a little lightheadness, slight headache, but generally okay. Eventually I dropped to one every other day. Now taking one four days a week. I get some headaches and fatigue. I already had arthritis so some fatigue came with it.

Hello Linda! I take 10 500-mg capsules of HU a week.

Although I freaked out at first about "chemo!", after 11 months I've had no side effects whatsoever.

From others here I've learned to always take HU with food, and to drink plenty of water during the day.

HU can increase our vulnerability to sun damage, so find yourself a fetching sunhat!