Anyone living with Essential Thrombocythemia with JAK2?

Hi What is Jak2.

@nohrt4me
The bit about miscarriages is very interesting. I am not really sure how long I have had ET (tripple negative) but I also had a miscarriage with no explanation, in my early 30's. Have 2 daughters. Now 75 in July, going back on to Anagrelide from one year on HU. See hematologist next week, currently on both tablets, hopefully can drop HU then.

@biggermike3

For many of us with ET, the cause is a mutation in one of the three proteins that govern blood cell production.

Those proteins are JAK2, CAL or MPL.

So if your bloodwork shows an abnormality in your JAK2 protein -- you have JAK2-driven ET.

Does that help?

@janemc
I had a different question. My daughter was 24 has been off interferer and Beyer for a few weeks. She’s allergic to be Remi. Can’t take that and interferon is closer so much so many side effects. We’re going to Mayo Clinic in a week or two to see what other things are going on, however, she has severe nausea and severe fatigue. I understand fatigue is a part of this, but nausea is not really a part unless you’re already on medication she’s unable to eat anything without throwing up and she is having a hard time even staying out of bed because the knowledge and fatigue we went for an hour on car ride day and that’s all she can handle this is so debilitating and so upset and just feel like I’m secured not a loss. I’m putting all my eggs in the mayo gasket and it’s frightening.

@loribmt

I guess for older people a lot of people are taking hydroxy, but for the younger people, they don’t recommend that so my daughter it’s not recommended for her and we had our first intake at the Mayo Clinic and now they call back and I guess they set up a team according to what your record say a 24 she’s just so sad and depressed right now she’s pretty strong girl, but this is really taken over the edge. I’m glad to hear you’re doing better and there might be some hope.

@dmcj

What your dear daughter is suffering is indeed frightening.

The horrible truth is, it's when we (or our loved ones) most need help that we discover the limits of what doctors know and can do. This is especially true when the problem is rare and poorly understood.

Taking your daughter to Mayo is your path to getting the best help possible.

Of course you feel scared and desperate. But as you say: "there might be some hope."

Hang on to that hope! And please remember, we're here for you.

Hi @dmcj Oh gosh, I’m sorry to see that your daughter is so sad and depressed right now with the changes in her health. That’s very understandable when she feels like crud. Words will mean little to her right now. But there is always hope!

If you’re heading to Mayo-Rochester, that is my home away from home with the amount of time I’ve spent there. Whether Rochester or one of the other campuses, I know your daughter is in the best of hands! Mayo’s hematology departments are second to none. I’m living proof of that!

The collaborative team approach at Mayo is also an incredible experience. Your daughter will be seen by a specialist and then the team takes over from there. If other doctors from different areas are required they just magically pop up on her team. You are most welcome to go along with your daughter to her appointments to be an extra set of eyes and ears. Take a small notepad or phone to make notes.
Also make sure her Patient Portal is set up. That will be the lifeline between her team and herself. All her tests results, appointments and notes will be on that portal.

Are you visiting Mayo Rochester?

Does anyone know if we can still donate organs with ET/Jak2?

Hi, @dewz13 You pose an interesting question! “Does anyone know if we can still donate organs with ET/Jak2?”
After reading several articles I’ve gathered that the risk of transmitting the JAK2 V617F mutation through organ donation is considered low, particularly if the donor has a well-controlled condition. However, the mutation can be present in the blood and may affect the recipient's health, especially if the recipient is already at risk for blood disorders.

There are several clinical papers discussing liver transplants with patient who receive livers from donors with ET -JAK2 V617F mutation.
One such paper is of a woman who had Essential thrombocythemia who passed away and could potentially be an organ donor. The recipient of her liver was a 68-year-old male with a history of end-stage liver cirrhosis secondary to alcohol consumption. He was given all the facts regarding the possibility of acquiring ET if they went ahead with the transplant. The doctors felt they could treat this condtion post transplant, if necessary. The patient was willing to accept the risks.

The transplant was a success, the JAK2 Mutated genes did show up in the patient’s blood test the day after transplant. But dissipated with subsequent blood work.
This led the doctors on the case to report, “We believe that it is reasonable for organ procurement organizations to offer organs from donors with JAK2 V617F mutations for transplantation into informed willing recipients within programs that provide appropriate follow-up, and in particular in situations in which the benefit from the transplant may supersede the potential and theoretical risk of MPN transmission.”
Here’s a link to that particular article from Hepatobiliary Surgery and Nutrition: https://hbsn.amegroups.org/article/view/23618/html

There are also research papers wondering:
Is it time to revisit contraindications to organ donation from donors with a JAK-2 mutation?
https://pubmed.ncbi.nlm.nih.gov/25778631/
Whether this is accepted across the board that’s hard to say. Not being a medical profession but just talking off the top of my head, I think with the demand on organs being high and availability low, that the transplant team would assess the potential side effects of going ahead with the donation if someone has a mutation with the JAK2 gene.
I think a reasonable team would weigh the long term success of the transplant against the risks before offering to the patient receiving the organ.

In my Allogenic bone marrow transplant, I received the stem cell donation from a donor. I was informed that my donor carried a latent virus in his system which I did not have. But that after the transplant I would most likely carry this virus as well. And I do! But my immune system is strong enough to prevent the virus from resurfacing. This donor was my 1 in 22,000,000 chance for life! I wasn’t going to toss that away for the potential of carrying a latent virus.
It think sometimes when it’s a choice between life and death, our ‘2nd hand’ organs or cells may come with a little baggage. But if the baggage can be safely ‘stowed’ away then I’m expecting the organs may be used. I know that I cannot donate organs because I carry 2 sets of DNA and that would be unpredictable for a recipient.

Bottom line, it would be best to consult with a healthcare professional or transplant center for personalized guidance regarding organ donation eligibility based on specific health conditions! How’s that? ☺️
.

@loribmt that is a pretty good response. I won’t take it off my driver’s license yet but will stay in contact about it with my Doctors