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

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@loribmt

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?

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Replies to "Hi @lindagualtieri, Welcome to Connect. Looks like you’ve been dubbed with a new diagnosis and have..."

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.