First post from a newbie awaiting JAK2 result

[Inan]

Hi, First post from a 69 yr old newbie nervously waiting for my JAK2 result [so far 12 days].

I emailed my doctor as I was having off the scale pins and needles around my midriff ,red hands and feet ,headaches and feeling generally in pain. I also have tinnitus and ocular migraine .He sent me for a blood test ,two days later the receptionist phoned and said doctor needed to see me that same morning .I got there,he was in PPE due to the pandemic and I thought ,There's something wrong here for them to call me in as it's all been done online or on the phone since Covid19.

He said he had phoned haematology at the general hospital as my haemoglobin,haematocrit and red cell count were all above high ref range.Haematologist told him with those results alone he would diagnose Polycythemia and that I needed a JAK2 test which I had done the next day. Doc examined my abdomen which felt quite tender but said my spleen felt normal.The rest of my bloodwork was normal . I'm a non drinker ,liver and kidney results normal,no thyroid or diabetes problems at all just these raised levels.He seems to think it's probably secondary and smoking related so I start tomorrow on a course of Champix. I only started smoking again l9 months ago after a 7 yr gap to try and lose the weight I gained when I quit.[I lost 4 stone]

Looking back over previous blood tests since 2016 ,I was surprised to see that the same three results have been consistently high,not as high as they are now but higher than the numbers in brackets yet they were all marked Satisfactory,No further action.So now I'm even more worried because in 2016,2017 and most of 2018 I was a non smoker and making me think my doc must be wrong about it being smoking related. Of course I will stop again whatever the outcome of the JAK2 ,done it before so I'll do it again ,for good this time.

I'm checking my online records several times a day to get this JAK2 result ,just to know either way although it's all happened so quickly there's an awful lot I don't know or understand.By Googling I found you guys so "Hello ",I hope you're all living life to the full as much as you possibly can and thanks for listening

[Hidden]

My dear Azaelea

It is highly unlikely that your PV is as a result of smoking. I had a husband who was in his final stages of life due to a rare blood disorder, Amyloidosis. As a result of his illness he had a condition called cardiomyopathy essentially inflammation of the heart muscles. The Doctor in charge of the emergency ward that night came up to us and said words to the effect of 'well if you spend your life smoking this is what can happen, I don't understand why you don't go home and spend your final days there". WOW! I saw RED. I looked at him straight in the eyes and said this man is 50 and has never placed a cigarette in his mouth and nore does he drink alcohol. You may have given up on him but he is not quite ready to die. Please attend to him. I don't think I have told many people that story, I still get a gut reaction.

With regards to you being Jak2 positive, I think it is more probable than not. Over 90+ of PV patients are Jak 2 positive. I am too as are many of us MPN patients. Enjoy your life, take a tub of Vaalia yogurt daily (better than probiotics) and may prevent you getting infections. I wish you heart felt thought and all the best. One day at a time. Play some Ella Fitzgerald, Aker Bulk, Pavarotti and let their brilliance take your concerns away.

Love from a stranger in Australia - Anna X

[Inan in reply to Hidden]

Thanks for your reply Anna ,I hope you are doing well x Just to be clear,so far I have only been diagnosed with Polycythemia not PV . My doctor said the JAK2 is a definitive test for PV and I'm still waiting for the result so I have not been diagnosed with PV. Thanks for the Acker Bilk tip ,I'm definitely a stranger on this shore !

[Ovingite]

Hi Inan

Welcome to the MPN club - you will get lots of helpful advice and support here. We've all been through it.

Because MPNs are such rare diseases many doctors are not familiar with it, so it's important to build up your own knowledge bank so that you can (tactfully) guide them.

The MPN Voice website (mpnvoice.org.uk/) has a huge amount of verified and trusted information and is the 'go to' source for most of us. It has an excellent section for people who are recently diagnosed and a section on PV.

The early stages are always worrying because it's all so new and often just pops out of the blue, but I assure you it will settle down quite quickly once you become more familiar with it.

All the best, and don't forget there is no such thing as a silly question - if you are uncertain just ask and there will always be someone on this site who can help.

All the best

John

[Inan in reply to Ovingite]

Thank you John , it's good to find so many knowledgeable people on here .Hope you're doing well x

[Ebot]

Welcome! (Though you’d probably rather not be here!)

The key thing is that your doctor is on the case. And worth waiting until you get your results and have a chance to chat with the haem team about smoking / primary / secondary PV. Though stopping immediately has got to be a good thing.

If your haematocrit is high you’re most likely to have a venesection and fingers crossed as your numbers come down you’ll get some relief from your symptoms. They may suggest drug interventions too. All tried and tested and with good outcomes. What’s also critical is that you see a haem with MPN expertise. Again, worth asking for an appropriate referral if you can.

Wishing you well.

[Inan in reply to Ebot]

Thanks Ebot , taken my first Champix this morning ,12 week stop smoking meds .It will be worth suffering a few side effects to be a non smoker again. My doc seems to think it's the cause of the high numbers and that they will come down when I stop yet he requested the JAK2 immediately so obviously he suspects PV .Be good to know one way or the other. If the JAK2 is negative will he ask for a BMB ? Sounds very nasty ,maybe I'm crossing bridges before I see the river !

[IrishSarah in reply to Inan]

Hi Inan,

So glad you’ve found your way here this early in your diagnosis! It might seem unbelievable that any corner of the internet could be so full of knowledge, support and caring - but this one is, welcome 💚

It’s an awful shock to the system to get a diagnosis for something you’ve never heard of, it must have been quite frightening for it to happen so suddenly for you? I’m really pleased to hear that your doctor is on the ball and didn’t let covid restrictions get in the way your care.

It took me a couple of weeks to acclimatise and when I did it was actually reassuring to have a label and diagnosis for all of those symptoms I’d been experiencing. It actually felt strangely empowering! I also felt unlucky to have an MPN, but lucky to have discovered it rather than continue living unaware of my high thrombosis risk (ETJAK2+ with history of thrombosis). I now have a great team of haematologists looking out for me, and my risk is being managed as best it can be.

Well done on committing to kicking the cigs for good! It’s the single best thing you can do for your health, and a great confidence booster when you can control the controllables. You’ve succeeded before so you know yourself that the first 3weeks are the hard part. You’ve got this 💪🏻

The best advice I can offer to you is to take your research and learning in baby steps. I understand what you mean about feeling like you might be “crossing bridges before seeing the river”! It can be overwhelming and google is mostly full of research papers that are easy to misinterpret and potentially redundant/out of date. The MPN voice website and experienced folks on here will tell you everything you need to know right now.

Sending you a big virtual hug and lots of love,

Sarah

[Inan in reply to IrishSarah]

Bless your heart Sarah [also my daughter's name !]

I'm like a drone flying above these rivers and not knowing where I'm going ! Terra firma is the best place for me I think and tiny baby steps as I'm getting way ahead of myself .I've learnt so much on here in just a day !Been reading about your BMB ,sounds awful,I so hope you're over it now x

[IrishSarah in reply to Inan]

Was absolutely fine a week later! Not the most enjoyable experience but really glad I’ve had it done to know exactly where I’m at (better than expected!) and to have a baseline for future.

[Ebot]

Take one step at a time. Get to the river first! The next thing would most likely be an assessment by the haematology team. Most primary care docs / GPs (where are you based?) haven’t a clue about MPNs so you’ve done well!!

Really don’t angst about a BMB. They are not necessarily routine. But if it is proposed bear in mind that a) they are very useful in getting a really clear idea of the disease and also providing an all important baseline for future review and b) they sound a lot worse than they actually are. Although not my leisure activity of choice (I’ve had two) they are certainly entirely manageable and over and done with pretty quickly.

Let us know how you get on.

[Inan in reply to Ebot]

Thanks Ebot ,I'm in Suffolk ,think the JAK2 is being done in either Addenbrookes or N&N. I know I'm "what iffing" far too much and could really do without having to quit smoking at such a stressful time !! It's a matter of having to but not wanting to but I will do it. I look after my 4 yr old granddaughter so she takes my mind off it ,takes a lot of my energy as well mind.

[Ebot in reply to Inan]

Good luck with the quitting. What with the possible PV, COVID - and of course, your gorgeous granddaughter - lots of sound reasons and impetus to do so.

Am sure others here will have some knowledge as to local haematology expertise.

[Inan in reply to Ebot]

Thank you so much for your great advice

[Wyebird]

Welcome- I love this site. People are so supportive. They have had interesting experiences and have found ways/remedies to cope with their symptoms. Some are extremely informative.

If the doctors are looking for a mutated gene then it could take a few weeks for your results. Good luck with quitting smoking . You’ve done it once you can do it again. It will have a huge positive impact on your blood results. Although it is highly unlikely it’s the cause.

Keep us posted.

[Inan in reply to Wyebird]

Thank you so much,people are so lovely on here.It will be 2 weeks tomorrow since my JAK2 test so let's hope it comes through soon,stay safe.

[Hannah52]

I was diagnosed with ET and JAK2 four and half years ago, and I have never had a BMB.

[Inan in reply to Hannah52]

Thanks Hannah ,good to know it's not routine for every case ,hope you're well.

[Inan]

Thanks Hannah ,good to know it's not routine for every case ,hope you're well.

[Hannah52]

Yes I am keeping well

[hunter5582]

Welcome to the club no one wanted to join, but we are all glad to be a member of.

I was diagnosed with ET over 30 years ago. It progressed to PV about 7 years ago. I am still alive and kicking and have a good quality of life, despite occasional challenges and unique learning opportunities. It can be a big shock to learn that you likely have a "blood cancer" but do not let that throw you. Many of us live normal to near-normal life spans and find that we can manage the symptoms that accompany a MPN.

Given what you described, I suspect you will find your JAK2 mutation will come back positive. It seems likely that smoking alone is not the cause for the erythrocytosis, though anything is possible. If the JAK2 test does come back positive, be sure to find out what your JAK2 Mutant Allele Burden is. This is the % of hematopoietic stem cells with the mutation. The test is called a JAK2 Mutant Allele Quantitative Analysis (or similar).

If you are positive for JAK2+ PV, the next step will be to consult with a MPN-expert doc. Be aware that most hematologists do not have the level of KSAs needed regarding MPNs to provide you with optimal individualized care. Here is a list of MPN expert docs mpnforum.com/list-hem./ . Consulting a MPN Specialist will be one of the best things you can do for yourself. It is worth doing whatever is necessary to make sure that this happens.

Do please let us know what you find out. Meanwhile - do please stop smoking. None of us with MPNs can afford to do that. It is not just the erythrocytosis - it is also the elevated risk for secondary cancers that we face.

All the best to you.

[Inan in reply to hunter5582]

Thank you so much for a very informative reply ,I really appreciate it. I checked out the list and it looks like Prof Green at Addenbrookes is the closest to Suffolk although it's just as quick to get to Guy's in London by train too.

From what I have read and please correct my very limited knowledge ,Erythrocytosis and Polycythemia are just terms for too many red blood cells ? It can be primary PV usually with a +JAK2 or secondary Polycythemia which is not PV and caused by external factors like smoking ,high altitude ,alcohol consumption and obesity . Now Suffolk as I'm sure you know is flat as a pancake ,no high altitudes here ! I don't drink and just slightly overweight but not obese so that leaves just smoking for the secondary. As I was not a smoker for 3 of the years when I had high Hematocrit,Haemoglobin and RBC then that would also tend to rule out smoking .I'm puzzled why those results were marked as Satisfactory when all 3 were above the high ref point for 3 successive years ,perhaps not high enough to ring alarm bells but surely I should have been informed or some action taken ?

I am determined to stop smoking again and will do my utmost to kick the disgusting dangerous habit once and for all.

I agree that it points more towards a positive JAK2 and a diagnosis of PV but I must be patient until the result comes and not try to diagnose myself in the meantime . I will post the result on here when it comes.Thanks again

[hunter5582]

Erythrocytosis = too many erythrocytes (red blood cells). Can be caused by different things.

Polycythemia Vera = erythrocytosis caused by a mutation that impacts the JAK-STAT pathway. 95% of the time, the JAK2 mutation. May also be accompanied by thrombocytosis (elevated platelets) and/or leukocytosis (elevated white blood cells).

Secondary Polycythemia - erythrocytosis caused by another disease state or factors like high altitude.

It sounds like you are taking a reasonable approach to what you know so far. While PV seems likely, you really just do not know yet. Results of the JAK2 test will be revealing, but are just the start of the process of figuring things out. Please do follow up with a MPN Specialist. It really is worth doing whatever it takes to make this happen.

All the best to you,

[Inan in reply to hunter5582]

Thank you........I have so much to learn .

[Inan]

Got my JAK2 & Exon 12 results this morning ,negative for both .My doc will check the blood again after 6 months of not smoking ,if still high he will refer to a haematologist and in the meantime send me to a sleep lab to check for sleep apnoea which is also a cause of secondary polycythemia.

I sincerely wish you all the very best for the future x

[IrishSarah in reply to Inan]

Great news Inan! Best of luck with the investigations. Will be keeping fingers crossed for you 🤞🏻

[Inan in reply to IrishSarah]

Thank you Sarah .You have all been so kind on here ,I'll kind of miss you xx Love to Dublin ,used to be a ward clerk at St Vincent's University Hospital once upon a time ,lots of happy memories of the Fair City.

All the very best for the future x