Jak2 V617F Positive

[Jakgal]

Good morning everyone! My name is Melis. I'm a 38-year-old female who found out I'm Jak 2 positive. I have an appointment with the hematologist on 06/11. Does this mean I have MPN, and should I ask for a bone marrow biopsy? I don't know much about MPN yet, and I'm worried. I have a platelet count of 800 and several high counts on various parameters in my latest bloodwork. I'm experiencing severe fatigue, headaches, dizziness, shortness of breath, pale skin, abdominal pain, bloating, and night sweats. Thank you so much for all your support in advance

[gdpone]

Given your symptoms and jak2 positive test I would say yes you have an MPN. Without having any other blood parameters than platelet I couldn’t even guess which one.

Welcome to the club no one wants to be part of but this is a pretty great community for support. For reference I’m almost same age as you, male, and also recently diagnosed PV.

I wouldn’t worry given our age we are considered low risk unless you’ve had a previous clot or bleeding event. I would do yourself a favor and don’t go googling unless you are good at parsing data and reading studies. Most data is sourced from high risk older groups as this disease normally affects older populations.

But to surmise from available data median life expectancy is 37+ years from diagnoses in those below 40 years of age. This will vary slightly depending on several factors that will be independent to your case. With newer drugs like besremi, Pegasys, and jakafi if you’re a good responder then likely will live a normal life and pass on WITH this disease NOT from it.

I understand this sounds scary but it’s very treatable in the vast majority of patients. There is no cure but there is hope for remission with drugs listed above ranging from 10-20% chance. Sounds low but that’s nearing a 1 in 4 chance, meaning 1 in 4 will go into remission of some degree. Even failing that most people (about 60-80%) will positively respond to those drugs and achieve complete control over their red bloods cells, white, and/or platelets. Even failing that worse case scenario for response is partial response which means it will control your parameters to some degree.

The most important and by far likely adverse outcome from this is either getting a blood clot or bleeding. So don’t focus on the very small chances of something else happening like what’s described below, instead do everything you can to prevent this. Which will include taking your medication or getting your blood drawn when needed. Reduce risk from lifestyle factors like diet and exercise.

There is a very small chance for some that this evolves into leukemia and/or what is called myelofibrosis which is scarring of the bone marrow. I wouldn’t worry about that as it’s a very small chance until usually you’ve already progressed after having had this for a long time, went untreated for a long time, or are older. I only mention it now because at some point you will come across it mentioned and don’t want you to freak out without knowing the context first. Even if you were to progress to these states there are treatments, and the younger and healthier you are the better the outcome.

I would very much push for a bone marrow biopsy. It’s the only way to know what’s really going on. To gauge your personal stage and what treatments will work best. Your Dr will go over everything but if I were you I would find an MPN specialist Dr to get a primary opinion as they are far more versed in this disease than normal hematologists. You will see them probably once or twice a year and your local hematologist will be your primary contact for day to day issues. Of which there will be very few after getting settled.

[Jakgal in reply to gdpone]

Hi! Thank you so much for taking the time to respond. It means a lot, especially since I’m a nervous newbie at the moment. Your help in answering my questions has certainly made me feel much better

Below is my lates blood results - the ones that are abnormal(I have been under observation since 2021, and when my levels kept rising, finally my PCP referred me to a hematologist.

WBC: 16.33

RDW: 15.1

PLT: 805

LYMPHS: 21.2

Neutrophil: 11.46

Eisonophil: 0.5

Basophil: 0.09

My Ferritin is normal, and she also had me done FISH analysis BCR/ABL1 which was negative. The pending test is the Calreticulin Mutation Exon-9. I doubt it will make a difference, though. I have a 9-year-old son with special needs, so the first thing I thought about was him and him needing me longer. You made me feel so much better. I appreciate you. I have found 2 MPN Specialists in the area. After my appointment with my hematologist on 06/11, I will go see one of them. Thank you for all your advice and encouragement!

[Anouchka in reply to gdpone]

Thank you @gdpone for a most insightful explanation of a MPN. An excellent read. (I’m JAK2 positive, OV diagnosis).

[Skyehope]

Hi Melis. Welcome to the forum.

I was diagnosed with PV at 38 and I'm now almost 46. I was petrified to begin with as I had a 3.5 year old at the time of diagnosis but I've calmed down a lot about it since then! I was diagnosed only using blood test results and the genetic test for JAK+ so I've never had a bone marrow biopsy.

I was watch and wait for a while, started aspirin before I was 40 and last year started on peg interferon because my risk factors changed and my WBC started to increase alongside my RBC and PLT. The interferon seems to be working for now although I am at the highest dose after gradual increases since starting. Honestly, I really can't grumble about where I am health-wise and am more active than ever, probably partly because I'm so aware of my health and risks etc.

Getting a diagnosis will be your first step and only your consultants can do that for you, but I would say that if you are diagnosed with an MPN, you have found the best place to come for support, reassurance and some great links to medical research. There are some very knowledgeable people here and although I'm not one of them, I do quietly cheer people on from the background!

There are people in this forum who have been living with an MPN for years and years and many get on absolutely fine with it. So, good luck with getting a diagnosis and I hope you can be reassured that an MPN can be a perfectly manageable condition.

Do come back and let us know how you get on x

[Jakgal in reply to Skyehope]

Hi Skyhope! Thank you all for the warm welcome. I am grateful to have found this platform and to have had the chance to meet all of you wonderful people. My appointment is a week away, and the waiting period sucks, so I'm glad I found this forum to answer all my questions. I will definitely keep you posted on the outcome.🙏

[Emmyroos]

Good morning! Jak2+ and the symptoms you're describing sounds like you could very well have an MPN. If so, do not fear - there are medications that can help relieve those awful symptoms. You've done the first step and that is getting seen and tested. If it is confirmed MPN, there are treatments that not only relieve symptom burden but will slow progression of disease (and in some cases can even reverse it!).

I was also diagnosed 5 years ago during pregnancy. I was very worried at the time. Since then, I have found an MPN specialist -this is MOST important if you are confirmed to have an MPN. Standard hematologists are not MPN specialists. A hematologist may be the doctor to diagnose you, but an MPN specialist will be needed to sketch out the best treatment path forward. Seek one out if MPN is confirmed.

Long story short - as many here will inform you, MPNs are typically well managed throughout our lives. I have young children also - we don't have time for disease! Don't be afraid to get on medication and get those symptoms under control and get your energy and your life back. I started on Pegasys a few years back and what an absolute game changer that has been for me. I used to struggle to get out of bed in the mornings - Now I'm back, happily at the gym at 6AM every day and have more energy than I have had in years.

I see that you're in the US also - what part? I see an incredible MPN doctor at University of California, San Diego. She is an MD / PhD and directs a stem cell clinic and research lab dedicated to MPNs.

Your question re: bone marrow biopsy? Yes - I would definitely recommend one if MPN is suspected. According to my doctor, that is the only way to get a complete diagnosis. It also serves as a baseline to reference later on down the road.

I'm happy you are getting answers and it sounds like you are heading in the right direction. Your hematologist seems to be running all the right diagnostic tests. Please feel free to DM me if you have other questions - I was the same age and had similar symptoms when I was diagnosed.

BTW this forum is VERY helpful. I'm glad you stumbled upon us. All the best to you while a more complete diagnosis is uncovered.

[Jakgal in reply to Emmyroos]

Hi Ennyroos! Thank you so much for your response and support. I'm thrilled to hear that the treatment can restore my energy levels. I dread waking up every morning. The symptoms I've been experiencing for years now make a lot more sense. Yes, I live in Clearwater, Florida, and I have found 2 MPN specialists at Tampa Moffitt Cancer Center. I am going to schedule an appointment with one of them. I wish I were closer to your doctor. Thank you so much for all the support. 🙏🥹I feel so much better. 🙏I will keep you posted on the outcome!

[Emmyroos in reply to Jakgal]

I also went undiagnosed for years... I was told repeatedly that my symptoms were "just motherhood" 🙄

I am glad you have a great facility locally that treats MPNs. I had a quick peak at the dr's on staff and found this one. He's currently part-taking in several MPN clinical trials. There's others too. Sounds like you'll be in good hands.

moffitt.org/providers/andre...

The waiting for test results and getting appts can feel like torture. Hang in there. Please keep us all posted.

[Jakgal in reply to Emmyroos]

Yes! I am grateful that Dr. Andrew Kuykundall is one of the best in this field and I'm only 25 miles away from him I called his office this morning to schedule an appointment, and they are currently verifying my insurance. I hope to schedule an appointment with him soon. Thank you for all your support. 🙏

[hunter5582]

Hello and Welcome. Glad you found your way here. This is a great place to find support and information.

As others have stated, with a JAK2 positive finding and thrombocytosis evident along a variety of common MPN constitutional symptoms, it does sound like you have a MPN It also appears that you are experiencing leukocytosis. You did not list your HCT/HGB, so cannot say whether erythrocytosis is evident. There are several types of MPN possible, including Essential Thrombocythemia (ET) and Polycythemia Vera (PV). You will need to review your findings and possibly get a bone marrow biopsy to get a clear diagnosis.

You mentioned that you have identified two MPN Specialists in your area. Consulting with a MPN Specialist is essential to ensuring optimal MPN care. MPNs are rare and most doctors, including hematologists, have little experience with them. Just in case you need to look for more, here are two lists.

mpnforum.com/tsr-the-list/

pvreporter.com/mpn-speciali...

It is worrisome when you learn that you have a MPN, a type of "Blood Cancer." It is important to understand that MPNs are chronic conditions, not acute illnesses. Many of us look at it as cancer with a little "c" not cancer with a bog "C". Due to the advances in treatment and with proper management, people with ET/PV can expect to live a normal lifespan. Moreover, many of the symptoms you report can be managed and improved with treatment.

I was diagnosed with ET over 30 years ago when I was in my 30s. It progressed to PV about 11 years ago. Now age 68, I have lived a good life and continue to do so. I raised two children and am now a grandfather. Due to my current treatment plan (Besremi) I feel better now than I did 10 years ago. Despite some issues to manage, some related to the MPN and others not, I am doing great. You can plan to do the same.

There is a lot to learn about MPNs and plenty of time to learn it. There are excellent resources available. The MPN Voice website is a good place to start. mpnvoice.org.uk/ There are also excellent webinars available. This set is particularly good. mpninfo.org/conferences/202... Suggest starting with MPN molecular Biology.

There are also upcoming live forums. There is one August 22 in Asheville NC that I will be attending. lp.constantcontactpages.com...

The 10th Annual Women and MPN Conference will be held September 27 in NYC. lp.constantcontactpages.com...

Wishing you all the best as you move forward.

[Tattycoram in reply to hunter5582]

Good morning, Hunter. I'm newly diagnosed with Jak2 ET (age 57), and am very reassured to hear your statement that 'with proper management, people with ET/PV can expect to live a normal lifespan'. However, one of the previous respondents in this stream mentions that 'there is hope for remission with drugs listed above ranging from 10-20% chance'. Have I misunderstood something? In principle, do I have a 10-20% chance of remission (as the other respondent states), or much higher (as you imply)?

[hunter5582 in reply to Tattycoram]

The reference to remission regards the possibility with some of the treatment options reducing the JAK2 variant allele frequency. Besremi has proven able for some to reduce the JAK2 VAF to the point that it can no longer be detected. A larger number have the JAK2 VAF reduced to less than 10%. This is referred to as a molecular remission or a complete molecular remission (at 0%). Recent data shows that Jakafi may have a similar impact. I have seen a reduction in JAK2 VAF from 38% to 10% taking Besremi.

At this point, it is not entirely clear what the significance of reducing the JAK2 VAF will be. Many MPN Specialist and most of us patients believe that it is a good thing. We just do not know how good it is yet. This is a good summary article. ashpublications.org/blood/a...

It is known that the JAK2 VAF tends to correlate with disease status. People with ET tend to have the lowest, people with MF the highest, and people with PV somewhere in-between. Symptom burden also tends to correlate with JAK2 VAF. The emphasis is on "tends" as there is not a totally linear correlation as there are other factors that influence disease status and symptom burden.

Treating MPNs successfully involves several different goals. The short-term goals involve prevention of thrombosis. When thrombocytosis is evident, the preventing hemorrhage is also a priority. (Note that there is increased risk of hemorrhage at higher PLT levels). Other short-term goals include symptom control for issues such as fatigue, night sweats, pruritus, headaches, TIAs, erythromelalgia, etc. Note that some of these symptoms are microvascular in nature, while others involve different mechanisms of action. Long-term goals include overall survival and progression-free survival. The risk of ET/PV progressing to MF or AML is one of the most important issues to address. This is where some of the newer treatment options (e.g., Besremi, Jakafi) may offer greater hope than the the older treatments (e.g, hydroxyurea, anagrelide, venesections).

While it is not yet the standard of care, I expect that monitoring JAK2 VAF will become standard practice for monitoring disease status and treatment efficacy. Some are already doing this. I have my status checked annually. My MPN Specialist does believe that it matters.

Wishing you all the best.

[Tattycoram in reply to hunter5582]

Thank you so much for all this insight, which I shall continue to reflect upon / act upon. You're very kind to share your knowledge so fully and helpfully.

[Jakgal in reply to hunter5582]

Hi Hunter! Thank you so much for your response. These are great resources. I'm so happy that I found this platform. I'm learning so much about the disease and feel more in control now. 🙏

[patriciapugliese in reply to Jakgal]

Hunter5582 walked me off the cliff when I was first diagnosed. A book of knowledge

[william-Indo]

All of your simptom indicate to MPN.

Pls do the bone marrow biopsy to confirm the diagnose and find the MPN specialist to take care your treatment.

It is huge different quality of treatment and outcome between hematologist and MPN specialist.

Cheers

[Tattycoram in reply to william-Indo]

Hi William-Indo. Thanks for your reply. I've recently had a BMB and seem to have a good MPN specialist, for which I'm very grateful.

[Jakgal in reply to william-Indo]

Hi William, thank you for your response. This platform has already taught me so much about this disease, so I will advocate for BNB.

[LeoTravels]

Hi,

Your Haematologist will manage all of that, my platelets were 1050 before I started Hydroxyurea. I felt much better when I started the medication, take all of your questions to your Haematologist. You will be fine, many of us have this - and yes, it is an MPN.

Best wishes.

[Tattycoram in reply to LeoTravels]

Thanks, LeoTravels. My diagnosis is now becoming the 'new normal' as I return to getting on with my life. 😐

[Jakgal in reply to LeoTravels]

Hi LeoTravels; thank you so much for your response. I didn't want to admit that I have MPN, but now I feel grateful to hear that it is pretty manageable. Thanks for all your support 🙏

[Threelions]

Hi

My lovely bunch of informative friends have, as usual, already given some top advice & information.

The only thing I’ll add at this stage a huge welcome to the group from me.

I’m ET J2+ & was diagnosed about 5 years ago with some similar symptoms to yourself.

Let us know how you get on with your further analysis & try not to worry too much. We’re all here for you, wherever we are in the World 👍

X

[Jakgal in reply to Threelions]

Hi Threelions! Thank you so much for your support and well wishes. I feel blessed to have found this platform and have already started learning so much from all of you. I will keep you updated for sure. 🙏

[ainslie]

you have had a lot of good answers already, all I will add is although current treatments for MPN are reasonable I am fairly confident they will get a lot better and would say there is a fair chance they will find a cure hopefully in the not too distant future, it’s a shock to begin with but that fades and it just becomes something to keep an eye on. From 14 years with PV I would advise anyone (if possible) to find a really good expert who you can see to set direction and see that expert from time to time to check in, they can advise your local Haem. Forums are useful if you find the good ones. Good luck.

[Jakgal in reply to ainslie]

Hi Ainslie! Thank you very much for your response. I've realized how important it is to continue treatment with an MPN specialist instead of a regular hematologist. I'm truly hopeful for new treatment options in the future.🙏

[KLCTJC]

Welcome! There are many of us who were diagnosed young and many who are living with this for many years. I like others was diagnosed with PV at 38 with a 2 year old. 4 years later I am on Besremi and just trying to live every day. I feel so much better now than I did years ago. This site is wonderful! Everyone is so supportive. All of us are always here to answer questions or just be there for you.😊

[Jakgal in reply to KLCTJC]

Hi KLCTJC! Thank you very much for your support. This group of people is incredible. The support is tremendous, and I feel so blessed. Thank you so much.🙏

[Mishie14]

Not much I can add to the comments posted already. Excellent information to help start your journey. What I have learned in 2 plus years since diagnosis of ET JAK2+ is 1) you will likely become more knowledgeable about this disorder than most of your medical providers as it is so very rare--you are your best advocate and need to speak up and don't assume anything about your treatment; 2) do not be afraid of drugs not working out and having to change drugs (standard drugs are hydroxyurea (chemo drug), anagrelide and interferons like peginterferon) as they are all different just as you are and so their side effects may get in your way; and 3) don't be afraid to try supplements like milk thistle extract--per #1 above--your liver enzyme blood test values may go up well beyond normal as each treatment drug has toxicity, milk thistle does wonders to detox liver and bring those values back down again. This is an example of being able to learn from others on this site whose journey is farther along and who will share what works and what doesn't for them. As someone noted, this journey is not a sprint. Good luck to you.

[Jakgal in reply to Mishie14]

Hi Mishie14! Thank you very much for your support. It's true that I will probably become more knowledgeable about this disorder than most of my medical providers. I've already learned so much. I appreciate the advice that I'm my best advocate and need to speak up and not assume anything about my treatment. That is absolutely crucial! Thank you.🙏

[Jsb45]

Everything is confusing at this stage. If you know you are Jak2 positive then you definitely have an MPN, most likely PV. My oncologist recommended NO biopsy as all it would do was confirm the blood testing already done. I followed his suggestion and after six years have no regrets about it. In my case my numbers fluctuate all over. I have learned to accept that fact. I have also worked my hematologist/ oncologist on different strategies to stabilize my numbers without me meds. I'm on hydroxy and aspirin. Good luck in your journey. It affects us all differently. So when you're exhausted rest as best you can, and when not do the things you like to.

[Jakgal in reply to Jsb45]

Hi Jsb45! Thank you so much for your response. I’m still in a state of shock, but as I review my blood work since 2013, I realize that my numbers have consistently been high and low, all over the place, without being properly addressed. I'm sure it's going to get easier with time!Thank you so much🙏

[junebuggy]

Hi Melis- I (41, F) was also diagnosed (3 years ago) age 38 with ET jak2+. The waiting period before diagnosis was the hardest part, and the diagnosis actually came to me as a great relief after months of worrying and uncertainty and lots of disparate and strange symptoms. I am now only on daily baby aspirin (81mg) and found that has greatly relieved my symptoms. I still get occasional fatigue and headaches and odd symptoms, but mostly just getting on with living life. Try not to worry- as others have said, it's more a matter of learning to live with it (and unlikely to die from it...). Sending you all the best

[Jakgal in reply to junebuggy]

Hi junebuggy! Thank you so much for sharing your story. It’s certainly a relief to see there are so many young individuals with this disease. I appreciate your support 🙏

[Solyesh]

Welcome! Glad you found this site - sorry you have to be here....I too was diagnosed fairly young with 4 kids in tow...have been on this journey for about 10 years now - officially diagnosed 4 years ago (before that just consistently high and rising platelets) - finally refereed to an MPN specialist - who did the Jak2 test and a BMB - yes an MPN classified as either ET or pre-fibrotic PMF.

My MPN specialist stressed from day 1 that I would be more likely to die with my MPN than FROM my MPN (in fact he had to educate two life insurance companies on this as well). For my MPN specialist, a BMB is standard of care. He believes that more info is better and it also provides a baseline for future comparison (if needed).

The good news about MPNs now being classified as cancers is that a lot more attention and resources have started to flow toward research. Today there are multiple medications available if needed and given the overall heterogeneity of our diseases this is good. We all react somewhat differently to different medications - good news is that today we have options with more under development.

[Jakgal]

Hi Solyesh! Thank you so much for sharing your story. It's such a relief to hear that multiple medications are available now, which certainly makes me feel better. I'm sure it's going to get easier to accept this and learn to live with it. I appreciate your support. 🙏

[Jakgal]

Hello everyone! I had an appointment with a hematologist/oncologist today. She brushed me off, saying that my symptoms are not related to MPN and that I don't need a bone marrow biopsy. After looking at the JAK2 positive result and the high platelet count in my blood work, she diagnosed me with essential thrombocythemia. She didn't even mention my other high ones: WBC: 16.33. RDW: 15.1. HCT 45.2 PLT: 805. LYMPHS: 21.2. Neutrophil: 11.46. Eisonophil: 0.5. Basophil: 0.09

She said she ruled out polycythemia vera because my red blood cell count is normal. Unfortunately, she didn't allow me to ask questions, and I'm disappointed. She ordered an abdominal ultrasound for the spleen and lower extremity venous Doppler to investigate my leg and ankle edema. When I asked for a BMB, she said it wasn't necessary and suggested I see an MPN specialist if I'm still concerned. I scheduled an appointment with MPN Specialist Dr. Andrew Kuykendall for 08/14, which is two months away, but better than nothing, I guess Thank you all for your support

[hunter5582 in reply to Jakgal]

You made the right decision following up with a MPN Specialist. Some cases do not fit neatly into the standard MPN categories. Masked PV is a real phenomenon. There are also those with MPN-U or in transition from ET to PV. The distinction will be involve knowing your EPO level, iron panel levels, and bone marrow morphology. I am sure that DR. Kuykendall will be able to help you sort it out.