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Hello

I was diagnosed yesterday with ET JAK2 Positive. I'm 49 years old. I'm having a bone marrow biopsy next Friday. My specialist is Dr Stylian on the Gold Coast.
I'm feeling so drained by the whole situation. It's been a long road getting to this point.

Thank you for making this forum available.

Hey there Mia Grace...

Lovely to be making your acquaintance... & very glad that you have found us here too...

Myeloproliferative Neoplasms (MPNs), are NOT well known in Australia, as I am sure you are beginning to learn for yourself. However, there are quite a few of us here to try to assist you where we can etc.

Please excuse my tardiness in responding, as I'm feeling a tad under the weather myself these last couple of days...

My name is Steve, I am Post ET/MF, (Myelofibrosis). My driver mutation is CALR Type2, (Like JAK2), all the Driver mutations are what activate what's called the 'JAK-Stat' pathway, where the mutation causes the over abundance of cell proliferation, (hope that makes some sense?).

In your case, they have said you are "Essential Thrombocythaemia" (ET), which usually indicates that one's Blood Platelets are very high, (normal range 150k-450k).

The good thing is that you have become diagnosed at a reasonably young age MiaGrace, and usually at 50yo and younger, all you might require is Low Dose (100mg) of Aspirin daily for many years to come... However, your medical team's advice will be best followed. Some people who are diagnosed early are also asymptomatic...

The Bone Marrow Biopsy (BMB), you are about to have will shed any further light upon whether or NOT there is any scarring to your bone marrow. They have a BMB scale that is measured from 0-3, where 0 is the least affected & 3 the converse. Mine was (2) and that indicated that I was possibly "Pre-fibrotic' and I later started taking Ruxolitinib (Jakavi), which more or less returned my life almost back to normal. I still have bad fatigue days most of the time, aches & pains, cold sweats, even brain fog, but generally speaking, I do seem to function much better than Pre-Ruxolitinib...

Hopefully, you will not have to worry about any of those sorts of complications for quite some time MiaGrace... (fingers crossed).

We all have mostly very similar (MPN) conditions but with a twist or turn here & there etc. Meaning that many of us suffer from a similar symptom burden, to a lesser or similar degree... But many people live almost completely normal lives while managing their MPN, and you may too...

Anyways MiaGrace, I am guessing that you are feeling a tad overwhelmed right now, and if so, that is completely normal. It is all a tad overwhelming at first... Learning a bit about our MPNs does help some of us come to terms with it all a little sooner, so please feel free to ask as many Questions as you like, and I and other MATES members (who will chime in over time), will do our best to help where we can... ok? Just feel free to ask whatever you want...

Everyone here is an MPN Patient, so we all understand how you might be feeling, at least to a certain degree...

Very best wishes Mia Grace,

Steve
MATES Admin

PS. BTW, I have had a couple of BMBs and generally I didn't feel much of anything until after the procedure, when walking was initially a little uncomfortable for the first day or two. I used the "Inhaler" method & made sure to breathe it in very deeply... Worked for me...

PPS. MiaGrace, just found an Avatar pic for you, hope you like it? But if you'd prefer something else, just let me know...

PPPS. We also do a CAFE CATCHUP (Virtually Online), using Microsoft TEAMs if you'd ever like to tune in let me know, you will also receive an invite automatically when the next one becomes due etc. Great place to meet others w/ an MPN to listen & share each other's journeys...

Hi Steve

Thank you so much for your reply

I'm still feeling overwhelmed by it all. At the same time I'm relieved to finally know why I have had exhaustion to my very bones over the years. I have night sweats, itching hands and feet, rashes and aura migraines but the exhaustion has been debilitating and has had me in some dark places. I quit my job last November as I couldn't cope.
To finally know that it's OK to be tired is a relief.

My platelets have been slowly increasing since 2017 but I was only told this in January this year. My doctors always told me I was fine.

My Oncologist spoke about ET second stage where there is scarring on the bone marrow. He thinks I may have that because of my symptoms. The BMB will tell, though I'm not looking forward to it! Did you have laughing gas for yours? (I'm not sure of the correct name!) I think they are going to give me a local anesthetic. I wouldn't mind being asleep for it to be honest!

Thanks again for the reply.

Hi Mia Grace
Welcome to the group. As what Steve said, MPN is not common. I was also diagnosed with ET Jak2+ 3 years ago, though it was initially MPNU - unclassified MPN. My Haem told me that I was ET. Had BMB. I’m on 100 mg aspirin. My platelets are creeping up now on the 800 mark last blood test. My symptoms include tiredness mostly towards the end of the day, tinnitus, pressure in my sinuses and I get breathless easily.

I felt the same like you the first time I learned about my condition. It’s been 3 years now and I’ve learned to cope with it. Still working, went part time for a year now. I try to walk every day and control my diet I’m a food lover, love my sweets… I also notice that my symptoms flare up when I’m stressed or when I worry…

It’s really good to have a forum like this though I should apologise to Steve and the others as I have not been so active…

Welcome again!!

Hi Mia Grace,

Welcome to our forum as I am sure you will find great support and encouragement when you need it.

I am like you and have ET and am Jak2 positive. I have had this condition for nearly 17 years now and have been on a number of different medications, I am now on Peg interferon and have to inject myself once a week. This is not however too much of a problem and my platelets are at last stable.

I have had several BMP’s over the years but as Steve says it is not too bad a procedure. Don’t worry about it as they can always assist you if you are uncomfortable.

It is so worrying when you are first diagnosed and they tell you ET is not curable and also quite rare. Ignore all this and be assured that you can lead a relatively normal life. We all have some challenging times but most of us come through them with the help of a good haematologist and forums like this one that Steve set up.
He is very helpful and I have been very grateful for his assistance as I moved from the UK to Australia, five years ago and was extremely nervous as I did not understand the system.

Let us know how you progress and hopefully you can join our next coffee catchup.

Best wishes,
Katie

Evening again MiaGrace...

No problem at all... Always happy to answer what questions I can etc...

No, it's not a laughing gas as such, it's an inhaler that one simply holds in one's mouth, and proceeds to breathe very deeply... They told me that it would NOT render me unconscious, however, I can attest to not knowing anything much about the procedure, and there were definitely blank spaces in my recollections of the whole event etc...

Hence, this equation for me equals "Inhaler" Good!

Anyways, do let us know how everything goes, please stay in touch and never be afraid to ask questions MiaGrace...

You may find, as many of us here have done so, that being assertive in our own best interests is the best way to manage having an MPN...
Too many doctors in Australia are simply ignorant to the world of MPN.

It's a problem of scale mostly, first we, (Australia), are such a small population, (in global terms), and MPN conditions themselves are so very rare. Myelofibrosis (MF) is 1-100,000. And that's only if diagnosed too... There must be a great many undiagnosed people out there because GPs do not always acknowledge "High Blood Platelets" or other inconsistencies in Full Blood Counts (FBCs)...

Anyways, welcome again and hopefully you'll join us for our next Cafe Catchup, (Online).

Best wishes

Steve

Thank you so much for all of your replies I really appreciate it. This forum is making me feel less alone.

I have been doing a lot of reading on the internet trying to understand how the three MPN's are diagnosed. My specialist thinks I may have scaring on my bone marrow because of my symptoms. If that is true does that then make me PV instead of ET?
Does being JAK2 positive make a difference in which condition someone is diagnosed with?
My WBC is normal as far as I'm aware and I am not anaemic. I did find some medical papers about it but I found it all very confusing!

Im feeling pretty rotten at the moment. Lots of symptoms but the fatigue is the most debilitating. I am very keen to begin some kind of treatment so I can start setting goals and get back to work.

Hey evening MiaGrace...

It's gratifying to learn that MATES is helping you feel a tad less alone in all of this etc... . I promise MiaGrace, it will become clearer in time, and I understand that being patient with oneself is not so simple at times like this. However, staying calm & open to learning more is what helped me most, after my diagnosis...

Funny really, I mean the range & gamut of turbulence I put myself through in those earlier stages of coming to understand & accept my MPN.

First, it was total disbelief, (Denial), and really at that juncture I set out to prove a mistake had been made in my diagnosis... and that my Thrombocytosis was simple caused by some other ailment, (virus, infection etc...?) Unfortunately however, & after a few weeks of trying and failing to create an alternative theory... I was eventually proved wrong, and then I became quite depressed...

It's a longer story later I suppose, but the concise version... You see, I had been studying for c. 5-6 yrs at Uni' for a Post I hoped to take up overseas in SE Asia; just a final standard medical test to pass & I would've been jetting away three (3) days later. However, I received a late night call from the Chief Medical Officer on the Sunday night, who informed me of irregularities in my Bloods, & stated further Tests would be required prior to my departure... Fast Forward... My diagnosis was confirmed & I lost my Posting... VERY ANGRY!

After, a prolonged period of self-loathing, bitterness & remorse... I asked myself a simple question: Am I giving up now, or do I want to "Live" for as long as I can?

Shortly after, I learned to accept my illness, and soon after started this website, that then became a Registered Charity, and I started seriously cycling for MPN Awareness, Research, & my fitness & health of course, (include diet spec's here too). Anyways, I am possibly fitter today in many ways, than I was prior to diagnosis... (?) Definitely feel fitter most of the time... But... I would be false if I said it was all easy as saying than doing... The doing required really hard work, on my part...

Anyways MiaGrace, you have loads of questions, & yes... that is exactly the right thing to do... (in my view...). By learning more about your MPN you will eventually become a lot more comfortable etc... And don't worry, it's all overwhelming and confusing at first... It's like learning to walk all over again really...

Let me see if I can't answer a few of your questions for now anyways...

What symptoms are you experiencing MiaGrace?

MG1. Does being JAK2 positive make a difference in which condition someone is diagnosed with?

A1. JAK2, can be present in any of the Three (3) MPNs. However, one of the other "Driver" mutations, CALR is usually never present in PV. Not 100% sure about MPL, (I think it can be), and there is also a diagnosis known as "Triple Negative" & that is when none of the known "Driver" mutations appear to be present. Finally, there is also one other known as "Unclassifiable" MPN. This is extremely rare however...

Your BMB once completed will possibly answer some questions for you... It might show that you have some scarring of the bone marrow... (?)
As I mentioned previously, they use a scale to measure the scarring, from 0-3 (4 levels) 0 being the most benign & 3 being the heaviest of scarring.

Scarring does not usually indicate PV so much as it may MF. However, true MF would also show up in your WBC, and you said that's normal... so that is a good thing...

It's also important to recall when thinking about MPNs, that they are generally all considered as "Chronic" illnesses, and most of them graduate quite slowly... Obviously, there are some exceptions...

On our website there are a few Links that will help you understand more about each of the three (3) MPNs, and what helps identify them...

Click on the Menu: "MPNs What Are They?"

Then you'll see a Drop Down List of the Three (3) MPNs:

https://www.mpn-mate.com/mpns-what-are-they/

Scroll right down on that page & keep reading to learn much more about the Three (x3) known "Driver" mutations, of which JAK2 is one of. The other Two (2) are CALR & MPL. All three mutations activate what is known as the "JAK-Stat" pathway,. and thereby stimulating the JAK2 protein which in turn creates an over abundance of mutated copies of our Blood cells.

Generally speaking, (very generally), PV usually shows up because of a High Red Blood Cell (RBC) count. ET a High Blood Platelet count. MF can have a mix of both issues but generally larger immature cells are released into the Blood stream, and these are called, "Blasts Cells". The presence of Blast cells & scarring of the Bone Marrow might indicate MF. However, your MPN specialist will know best once those test results are known etc.

Are you still awaiting a BMB at present? Or have you completed that & now waiting on your results? If so... you will know more very soon MiaGrace...
How was the procedure for you, (if you've had it of course)?

Try not too worry too much, it usually does absolutely no good to do so... Just serves to make oneself more anxious, and for no good reason. When you have your results, you'll know where you stand etc... And that will be very soon now...

From all you have shared thus far, it sounds like you have ET to me. ET can have many unwanted symptoms too... But most of them will disappear by simply taking 100mg of Low Dose Aspirin daily...

Please do stay in touch MiaGrace, and I'm happy to send to my Mobile number by your email if you'd ever like to call... Just let me know ok... It helps to talk at times, and after all... That's why we are here really... . Katie another MATES member is also usually ok to give out her number if you'd prefer to speak w/ a female etc. I won't be offended in the least should you wish to do so... promise...

Let me know what your specialist says after your results return...

Some times... they may want to start patients on some harder drugs... and if that's the case... There are a few options, and you need NOT be limited to just the one that they always seem to want to roll out first...

Anyways, more about that after you've received your results...

Stay happy, safe & well MiaGrace...

Talk more soon...

Steve

Hi Steve

Thank you so much for all of the information and also for the link explaining the three MPN's.

I really feel for you and how you were diagnosed. That must have been such a terrible shock and a hard thing to go through. You are very strong to have turned your situation around, particularly regarding your fitness and for building this foundation. This forum brings light to the end of a very frightening tunnel.

I have my BMB this coming Friday morning then I see my specialist the following Friday. I've spent the past few days in shock then in complete denial and am still hoping there has been a big mistake, but I know there is something wrong.

For the past few years the main symptom I have experienced is extreme fatigue, but last year I began feeling faint and having night sweats, itching palms and soles of feet that would turn bright red, aura migraines and my asthma has returned after 25 years. I get a rash that looks like lupus across my nose but it also travels to my chest and legs. The rash started in January this year and was when the GP started to think there was something wrong. I have been tested for autoimmune diseases but everything came back negative. My specialist still thinks I may have a connective tissue disorder as well as ET and has ordered more blood tests for Friday.

My platelets have been gradually increasing each year since 2017 but I was not told about this until this year. I have been to the doctors so many times trying to find out why I am so tired. Last year was awful, I was so tired that I could barely keep my eyes open while driving. In the mornings I would wake up and feel like crying because I didn't know how I would have the energy to get through the day. I told this to my GP and he said that I must be depressed and wrote me a script for anti depressants and advised me to see a therapist. Meanwhile he is looking at my blood test results showing increasingly high platelets and didn't think that could be the reason! He tested my hormones to see if I was in menopause. When I phoned him for the results he told me that my bloods were fine (they weren't) and that I had finished menopause (my last bloods showed that I haven't even started menopause). I honestly don't think he was even looking at my blood test results. I could go on and on. I have seen 4 different GP's over the past 18 months to get to this point. When I tested positive for JAK2 the GP said they didn't think I had a blood issue and referred me to a Rheumatologist. I took all my test results to another GP who immediately referred me to an Haematologist/Oncologist who saw me the next day. Getting this far has been a long, frustrating and humiliating experience.

My specialist logged on to my blood test account at Sullivan Nicolaides and saw that in 2017 I tested positive for the Prothrombin Mutation. I had no idea! no one told me. I wonder if this mutation is linked to MPN's? Both of my parents have had DVT's.

My specialist mentioned aspirin but I cant take it as it makes me terribly sick, he said that there is a new aspirin that I could try. Have you heard about it?

I was very much in to health and fitness. I was a professional dancer until I was 32 then became a ballet teacher. I also trained as a yoga instructor. I absolutely LOVE teaching and miss it terribly. As soon as I have a full diagnoses and direction for treatment my first short term goal is to get back to teaching. At the moment I walk for an hour every day and practice gentle yoga. That's about as much as I can mange at the moment.

Thanks again for all your help

Evening MiaGrace...

Quite the converse from my point of view MiaGrace... I can assure you that it is I who feels for you, especially at this early juncture of coming to terms & having to realise and accept so much about what some of the ramifications are concerning having an MPN... & there are so many really...

Firstly, and this is a big one, GPs & Specialist in Australia know so very little about MPNs! Accept this fact please... I also had so many GPs before I finally found an understanding English guy who being very honest w/ me simply stated, "Steve, I must tell you I know nothing about MPNs, and that I am the only patient ever through this large medical practice of over some 12,000+ people who has been diagnosed w/ one of these MPN conditions."
My reply, was in acknowledging his honesty, (as even that was refreshing & new to this point), I said, "Paul, we shall learn about MPNs together!"
Every so often I have provided him w/ academic (peer-reviewed), articles concerning MPNs from places like the USA, Europe & the UK, because in those larger population demographics, they simply know so much more than the Australian medical fraternity...

However MiaGrace, all is not lost... There are a couple of what I call knowledgeable MPN specialists here in Australia. One on the NSW Central Coast, and her name is Dr Cecily Forsythe, Many of MATES members in NSW are being treated by Dr Cecily, and they are very happy w/ things generally...

Recently, I did a cycling charity fundraiser where we donated the proceeds to the Peter MaCallum Cancer Foundation, (Peter MAC), in Victoria, where a Dr Kate Bradbury heads up research into MPNs. Both of them are dedicated practitioners who know more about MPNs than most other specialists in their fields, in my view of course...

There is also a caution on our website concerning the dangers of people being treated for an MPN by GPs & specialists who have little or no idea about what the MPN patient is going through... Here's that Link:

MEDICAL RELATIONS WITH GPs & SPECIALISTS

https://www.mpn-mate.com/mpn-doctor-relationships/

Being depressed is a part of the symptom burden when one must confront & realise that they do indeed have a "Life-Threatening" and very serious illness... Having an MPN is a huge learning curve MiaGrace, and you must learn to become patient w/ yourself & others, (even the ignorant medical fraternity that you have already experienced for yourself...).

You do not need therapy, just understanding from those who know what you are going through... FATIGUE!

MiaGrace, when I was first diagnosed, I was put on an oral chemo' drug called Hydroxyureacarbimide (HU), for short... It was dreadful for me, and has been so for many other too... If a doctor mentions that you might need this drug, then realise there is another option, called Pegasys' Interferon. Most of the MATES members w/ ET are on Pegasys'. I am taking a drug called Ruxolitinib, (jakavi), which is an immunosuppressant, and you should not have this drug unless you have MF because it subjects the patient to being highly vulnerable to any & all types of infections...

However, and that said, this drug has recreated a sense of normalcy to my life these days, and I am extremely cautious about how I stay safe, (especially so given the advent of COVID-19 etc).

MiaGrace, there are many other alternatives to Low Dose Aspirin that your GP should be able to provide. I have also used one of them called "Clopidogrel" to help control my "Out of Control" very high Platelets.

Platelets being this way can cause all manner of symptoms from red rashes, fainting, headaches, Tinnitus, to flaking & discoloured finger nails, bleeding gums, internal haemorrhaging, blood clots and what are known as "Transient Ischemic Attacks" (minor brain strokes), and I have already had a few of those too... Not much fun...

Hence, it is absolutely essential that your Blood Platelets are brought back under control ASAP, and Aspirin usually does that most effectively... But if you can't have Aspirin, Clopidogrel may work for you too (?)

Remember MiaGrace, you MUST become assertive in order for you to achieve the very best care you can for you to be able to manage well w/ your new MPN.

MiaGrace,

"Do NOT put up w/ GPs & so-called specialists who do not know or understand what the MPN patient must contend w/..."

If you cannot find a good doctor on the Gold Coast, at least give Dr Cecily a call... I am sure that you will feel so much better after having spoken w/ her yourself... Hopefully, into the future, we will eventually have many more GPs who do know what an MPN actually is, and how best to treat it... (fingers crossed).

Remember, I am happy to chat any time if you ever want to call, I will send you an email w/ mine & Katie's numbers very shortly if you like... (?) Just let me know ok?

Best wishes MiaGrace, stay strong, safe & well...

Steve

PS. Dr Cecily's website & Ph: https://www.centralcoasthaematology.com.au/. Ph: (02) 4324 8488. E: blood.doc@healthemail.com.au

PPS. On our MPN Australia Services page, we have listed a service for MPN Specialists: https://www.mpn-mate.com/services-4/
https://mpnforum.com/list-hem/

Hello MiaGrace

Katie here again. I would be delighted to talk to you on the phone if you would like to.
I am a patient of Cecily Forsyth and most of my consultations are done by phone. She is a very kind and helpful MPN specialist and I am sure she could help you.

Over the years, I have had so many of the symptoms you describe as I have ET too. I still struggle on some days but I am still around after 16 years of meds.
I am sure I had the disease several years before it was diagnosed too. I had burning feet, dizziness and eye disturbances but thought it was the menopause.

I was like you, very active and ballet has always been very close to my heart. I went to the gym three times a week and loved skiing. I am now too old to cope with these activities but still do a little yoga and meditation of course.

Good luck with your BMB on Friday. Don’t worry the ‘Whistle’ as they call it is amazing. It’s an inhaler and it does work.

All the best,
Katie

Hi Steve and Katie

Yes, it would be so helpful to have your numbers. Thank you so much

Im going to contact Dr Forsyth for a second opinion once I get my results from my BMB biopsy back. It would be great if my haematologist here on the GC could connect with her as well.

Thank you for the heads up about HU & Pegasys.

I don't think I'm having the whistle for the BMB. My haematologist said I would get a local anesthetic.