Hi everyone, I’ve recently been found to be JAK2 positive and have a referral to a specialist in December. I’m 38 and my GP said it’s outside of her field of expertise to make a comment on in good faith.
I have 500-620 platelet levels for the last 3 years prompting the initial check and high ferritin.
I guess I don’t know what to expect, but was a little curious to hear what happened to anyone in a similar situation in the early stages of diagnosis for you and get a range of what my journey might look like.
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Superchur
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Hi, well my JAK2POSITIVE ET started with an appointment with a haematologist who prescribed Hydroxycarbamide, one a day. I had regular blood tests and six weekly appointments to start with. Once platelets were down my appointments were gradually spaced out. This was fine for a few years then platelets went up again and Hydroxycarbamide now 9 a week and platelets ok again. I am much older than you but hope this helps. Good luck
Thanks for sharing KentBee - that does help a lot. Just hearing your journey puts my mind into a bit of perspective instead of racing into the unknown and imagining all kinds of possible outcomes.
Was their anything positive or impactful that stood out for you when your platelets returned to ok levels?
Wishing you all the best for the future - glad to hear they are in ok ranges now too
Hi, to be honest I took the diagnosis well and have never worried about it apart from when Covid arrived in the U.K. I have had 6 Covid vaccines, flu and recently had the first of two Shingles non live vaccines. I have worn a mask for longer than most but otherwise all good apart from fatigue but keeping occupied helps as I live alone. Once again, hope your journey goes well.
Hello and welcome to the forum. Glad you found your way here. This is a great place to get information and support from others with MPNs.
I was diagnosed with ET about 30+ years ago. It progressed to PV about 9 years ago. I have lived a great life and at age 67 continue to do so. There can be some challenges in managing a MPN, but they can often be managed quite successfully.
By now you will likely have read that MPNs like ET are a type of blood "cancer." While this is technically true. many of us look at this as cancer with a little "c", not cancer with a big "C". ET and PV are akin to a chronic condition like diabetes. Something that has to be managed, but not something immediately life threatening for most. It is a truism that you are more likely to die with ET than from it.
Like you, I also have the JAK2 mutation that is the driver for my MPN. I also have another condition, Neurofibromatosis Type 1 (NF1 mutation), that is a potential non-driver mutation for MPN progression. It is important to understand what it is that the JAK2 mutation is doing in our bodies. There is more to it than making too many platelets. Our bodies also make too many inflammatory cytokines, This causes a host of other related inflammatory symptoms. At the core, MPNs are inflammatory disorders.
The good news is that you will have plenty of time to learn all about this. More good news, treatment options are improving and there are ways for many of us to successfully manage a MPN. Still more good news, the standard treatment protocol for someone your age with no history of thrombosis or other risk factors is aspirin + monitor. I did that for decades and did just fine.
The most important thing at this point is to ensure that you consult with a MPN Specialist. MPNs are rare disorders and most hematologists have little experience with them. It is important to see a MPN-expert doc to ensure optimal MPN care. Here is list of recommended MPN-expert doctors. mpnforum.com/list-hem./
I live in New Zealand and luckily we have a really good public health system (its so good in fact that when my wife was diagnosed with a germ cell tumour 4 years ago, she’s good now, her private doctor referred her to public, saying they were the best for her case) and I’ve had Private Health Insurance, so coverage is pretty decent.
I think key for me from your advice (and repeated by others) is to find an MPN specialist after we’ve got the initial diagnosis sorted.
Your story gives me all kinds of hope for the future too - so humbled and proud of you for making the most of life so far! You’re still young by my books.
so true. People here have been nothing but welcoming and patient - yourself included.
Will definitely take things in stride and consider shifting consultants if needed. Fingers crossed! But now I think that is just good advice across the board for finding medical professionals for whatever lands.
Thanks for taking responding, all the best to you too.
It’s daunting news to take in. Try not to dwell on it or fight it which is what I tried to do for the first 4 years. Work with it. You will get even what you think are trivial questions answered on this site.
Are you in the UK? For me prior to diagnosis I had various tests whilst waiting to see if I’d got a mutated gene.
Your heamo will establish which MPN you have. No doubt you will have a blood test done at every visit in order to monitor your blood. I suspect because of your age you might be on a closely monitored road or offered an injection. If the latter don’t despair it really is simple and I’m the most sqeemish person out. Just place an ice pack on the site prior to injection. You won’t feel a thing. Tablets are another form of medication. We are all so different
Do pluck up the courage and ask if your heamo is an MPN specialist if not try and get transferred to one.
Google MPN voice.org.uk. It provides a wealth of information and support.
Hi Wyebird, if I may ask - what did fighting it look like to you? For me I’m cycling through denial, uncertainty and an innate desire to protect my current lifestyle… but ultimately, I’m logical most of the time so know it will be an adjustment.
I’ve had a fair amount of shots in my time, but the ice pack trick I might keep in my back pocket if it gets too much.
I think I’m reassured knowing there are both options and the likelihood of increased monitoring in the short-medium term.
Will definitely take a peek online and report back after the first consult.
hi when I was diagnosed about 7 years ago literature said nothing about diminished quality of life although it did say reserve your energy for things you like to do. I was lucky enough to be able to afford a cleaner two hours a week. Apart from that I told myself I could still do 3 1/2 mile swims each in 221/2mins
2 yoga classes one being really challenging, 1 Mile brisk walk with dogs daily and 1 x4 mile brisk walk with a friend.
Along with other things, on numerous occasion I’d almost collapse unable to breath and paramedics out or a trip to a and e.
A visit to fatigue clinic approx 4 years in was a god send and proved I was doing too much.
Now I still get fatigued but recognise the signs.
So all I can say is look for short cuts in your life.
If you invite people round to eat then casserole and bought pudding will be fine. If I have a really busy day the next day it’s a sofa day.
Work with the illness. Don’t waste valuable time trying to pretend you can go on as normal. Some people can, I can’t.
I was diagnosed Jak2+ ET over 3 years ago at 51yrs. My platelets were mid to high 600s.
On confirmation of diagnosis I was prescribed Interferon injections (started on a fairly high dose weekly & am now on 45mg every 4 weeks). Platelets very quickly came down & have remained down since.
I have regular check ups with my consultant team and earlier this year had a bone marrow biopsy to set a base level reading.
It’s great that you are seeing a specialist as it is important you receive the best advice and medication moving forward.
Well managed, the condition will hopefully not have too much of an impact on you.
I was a bit concerned when initially diagnosed & thanks to the fantastic group on here, my mind was quickly put at rest, knowing there was people I could turn to for any advice, questions or support. Bearing in mind the rarity of the condition this has been a god send.
You’ll hopefully find you have a similar, straightforward initial journey & as your journey progresses you too will be in a position to reassure and assist those that find themselves in this group.
If you have any further questions you’d like to ask just let me know in a reply.
hi Superchur. Firstly our condition sounds scary but really it isn’t if managed so please try not to worry, although easier said than done.☺️A lot of people are on low dose aspirin 75mg daily to make the platelets less sticky. It might sound like there is a lot to learn but give it time and it will all sink in. I have et jak2 and am on Pegasys, an injection of a form of interferon. Works very well for me. Am asymptomatic apart from some tiredness. My life hasn’t really changed much since I was diagnosed apart from taking medication. In the uk we get blood tests usually every 3 months followed by phone call or occasionally face to face appointment with nurse or haematologist. There is alot for you to read up on and this site is marvellous for advice so ask any questions you want. We are all here to help and good luck with your appointment
I’m sorry to hear of your diagnosis, and welcome to this site where you’ll find a lot of information and support. As several have said above, this is manageable and you’ll likely live a full life for many years.
I was diagnosed with PV (JAK2 related) at 44 and am now 60. For those first 16 years, I was treated with a daily aspirin and periodic phlebotomies. Other than a little fatigue due to low iron, my daily life didn’t change.
Here are my lessons. I had a very good doctor, but he wasn’t an MPN specialist. Doing it over again, I would be treated by an MPN specialist from the start. I don’t know that it would have made a difference, but an MPN specialist might have talked to me about going on an interferon (Besremi or Pegasys) prior to age 60. These have the potential to slow (maybe stop) disease progression.
I learned earlier this year that, slowly but surely, my disease had been progressing; even though I felt fine. I’m on an interferon now, but I sometimes wonder if starting that as soon as possible after diagnosis would have been a good move. (I’m not sure an interferon was available back then, but it’s a good question for you to explore with your specialist.)
There has been a long standing debate about how to best treat a young, newly diagnosed Jak2 positive ET patient that has a platelet count under 1.0 million. A small camp of MPN specialists believes treatment with the immune system boost drug Pegasys interferon should begin at or near the time of diagnosis because that’s when the number of mutated cells is still small, hence low weekly doses of interferon that have minimal, if any side effects, have the best chance of reducing that mutated number to near zero.
In other words, this camp believes in using interferon to reduce or eliminate the chance of further disease progression, plus normalize the platelet count to reduce or eliminate the chance of a high platelet count induced blood clot.
Another, larger camp of MPN specialists rejects “thwarts disease progression” claim on the basis that it hasn’t been proven via a randomized 30-50 year long clinical trial. But, of course, such a multi-decade trial would be too logistically and financially challenging to conduct. So the matter remain unresolved.
Bottom line is if you want to try the early intervention with interferon treatment path you’ll need to find an interferon friendly MPN specialist because most specialists are still interferon skeptics and/or only willing to prescribe it for blood clot risk reducing purposes in which case they usually want the ET patient to delay beginning treatment until the malignancy grows enough to cause the platelet count to reach 1.0 to 1.5 million.
I am Jak2 positive however it was my wbs, rbc, HCT and all the sizes of the blood cells that were off. Journey started November 2017(I was 51 at the time, figured I had the mutation for about 2 years by time I came in, I thought it was just menopause so ignored the symptoms). At first HemOc doc just had me do Therapeutic Phlebotomies (TPs, blood lets) about every other week, then has my HCT came down (my wBC and RBC never came down) he let me go to 3 weeks, then a month then every other month. When my WBC kept climbing he told me no more waiting, I was going to have to go on Hydrea (hydroxyurea) because even though I was young, now I was high risk for DVT or Pulmonary embolism. I was reticent but agreed and I had no issues or side effects. My counts came down to where I could do TPs every 3 months. Then covid hit and finally WBC were in the normal range and he took me from 2 500 mg a day to 1 500 mg a day). Then recently my wbc was up to 18 and he decided time to go back to 1000mg a day. I seem to know when counts are up, headaches get worse, flushed face, itchy skin, exhaustion etc.
As long as you stay up with your blood counts and get TPs when your HCT is 45 or above you should be fine.
Some great help and information here, I learn every time I come on it and I too am Jak2 positive. I have been on Hydroxy now about 15 months so still monitoring. I too am in a much older age group, but there is a lot of help to be had and some very knowledgeable people contributing on here which I am sure will help and reassure you. Glad that you found your way here.
As you can read on the forum, some Drs are ok with PLT up to 600, so it's not automatically an urgency. But details matter and your specialist will guide you on your best next steps.
Your specialist should recommend a "quantification" of the Jak2 if you don't have already. This is how many of your Jak cells are mutated in %. The Dr should also plan NGS (nexgen sequencing) This looks for other possible "non-driver" mutations beyond Jak2. This info is only just starting to be useful, but you want to have it for future reference when it's likely to be very useful to know where you started.
I had 600+ PLT for about 5 years before my Dx when it was 1,000. I didn't feel anything till it got that high (and long covid too)
jak 2 positive as well platelets and whites always a over range diagnostic 11 -21 due to age and previous dvt put on hu last year but refused to take it due to covid and having previous dvt refused clot shot as well. After have a year and a half groin pain finally found kidney stone this year. And also a lesion on mylivers ao I decided to take hu at yiur age watch and wait and baby aspirin is probably protocol unless other history
Find a specialist to add to your team but with God's help you should probably live a some what normal life hydrate and eat healthy join mpn web sites as well for info
I reckon the best MPN specialist in NZ is Dr James Liang in Auckland. I travelled from Welly to see him a few years ago. How is the high ferritin going? (that's a bit unusual, but i get it too). All the best.
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