MPN Voice
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Specialist 2nd visit

As many know I was diagnosed about 6 mo ago with ET & mild MF. I’m TRIPLE NEG. and my haem sent me to an MPN specialist at Columbia in NYC. 1st visit specialist ordered a full genetic panel, because she wanted to find MPN cause.

2nd visit was Oct 16th. The results given were flattering because it seems I’m genetically perfect, lol...but with regards to our disease, not so great. Without a mutation it seems my risk of potentially developing leukemia go up exponentially. As a triple neg I was 3.9% of MPN population. Now I’m in the unfortunate few with no obvious cause at all - less than 2%.

The most difficult thing is that the specialist said there’s nothing to do but watch and see. She couldn’t answer my questions: how long have I had this? Prognosis and potential progression? Timeline? What does near or close to normal lifespan mean?

Seems with MPNs it is so individual to each patient and studies are so limited that nothing can be accurately predicted. Yes, I’m at a much higher risk but it may take 5,10,20yrs or never. My MF may progress slowly or quickly. ( I KNOW ALL OF US HERE FEEL THE SAME FRUSTRATION 😑). To just watch and wait doesn’t seem proactive.

My real frustration was that she wouldn’t discuss options should the disease morph. Said there was no point. But for me there is. I feel less anxious if I know there are options. So if the worse happens I already have at least a mental outline and sense of control. Something we are sorely lacking with our MPNs. So information helps me adjust and pivot when needed, giving me some semblance of sanity

That’s why I so appreciate everyone on this forum. You offer not only support, but a critical information source and useful suggestions. I thank you for that...so valuable!

Any thoughts are always welcome. I do appreciate your listening. Feeling heard really helps

Xo

Christina

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Hi Christina

I too am triple negative Polycythaemia, producing too many red blood cells, diagnosed 4 years ago. My platelets are normal. My PCV (Packed Cell Volume, also known as heamatocrit) is controlled by venesection as soon as it reaches 0.45. The need for these is now between 6 - 12 months. My diagnosis was called Polycythaemia, then Polycythaemia - undetermined cause, then, without any further tests, it was changed to Secondary Polycythaemia - undetermined cause. I’ve not had a Bone Marrow Biopsy so the possibility of MF has not been checked. There was also no secondary cause found in the usual investigations.

At first I wanted to investigate the cause further but it seems that the treatment would be the same anyway all the time I am well and my PCV and ferritin levels are kept low by the venesections. I’m told this is what helps to restrict the red cell production as well as preventing blood clots. I think it contributes to the fatigue that most of us seem to get and I also suffer from silent migraines and mild tinnitus but I’m lucky that all these symptoms are mild and haven’t got any worse.

I have learnt to accept that a cause will probably not be found and am grateful that whatever it is it doesn’t seem to be progressing. As you say, wait and see is not an ideal situation but is really only a problem if the condition progresses.

I don’t know if triple neg. ET and the mild MF can be compared to my triple neg Polycythaemia but I thought my experience so far may give you some hope. We’re a very exclusive group!

I hope all works out well for you.

Jackie

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Hi Jackie, I so appreciate your sharing your story. We are all definitely in a very exclusive club and I am glad we are all in touch and able to talk and listen to each other.

The one good thing that came from my appointment was that for now I am not being prescribed any stronger treatment than my aspirin therapy. As for dealing with my symptoms I’m taking my cues from our fellow forum members. The doctors seem want to know symptoms but do little to acknowledge or treat them.

Thanks again for being here

Christina

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Dear Christina. There is information out there to give you a better idea of your own individual prognosis , and the Mayo clinic has done a lot of the research on myelofibrosis prognosis. Why not get a consultation with them.

I was diagnosed with MF in January this year, and am now taking ruxolitinob, have had a couple of blood transfusions and have started weekly erythropoietin injections to see if I can reduce the fatigue and improve life quality. There is also pegylated interferon which can do the same thing. Hydrea ( called hydroxyurea in Europe) reduced my platelets but made me feel dreadful: anxious and awful. But it works fine for some people.

So far as a cure goes if you are relatively young and fit you may be a good candidate for a stem cell transplant, and you could explore the pluses and minuses of that.

I’d get myself a referral to the Mayo PDQ and rattle the bars a bit. There is indeed a time and place for sitting back and just accepting that there is no more that can be done to give you a better quality of life, and that there is no statistical information available as to how long that life might be. But it sounds as tho you aren’t there yet. Keep on hacking. And keep in touch.

Lots of love

Rachelthepotter

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PS. Forgot to say in the earlier reply: if you want to have the best choice of clinical trials to enter ( and that can be hugely important in terms getting the best quality care and access to drugs) then don't rush to start any medication until you know what the options are. As a “clean-skin” who hasn’t had any other treatments you might be extremely desirable research fodder.

All the best.

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Thanks Rachel for your suggestions. I have done a bit of research on the Mayo Clinic and they are cutting edge. And I agree that being amongst the rarest of the rare I may be the perfect guinea pig, lol

If you read my earlier posts you’ll see that the specialist note to my haem suggested possible transplant, yet when I mentioned it the specialist said that the studies were too limited to support a conclusion of transplant treatment. I definitely have been thinking about another opinion and traveling to the Mayo is not a bad idea.

Think of anything else, please let me know

Thanks much!

Christina

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Hi Christina,

I’m so sorry to hear of your understandable sense of frustration. I think a second opinion is definitely required.

I realise none of us can predict with any accuracy our MPN journey; however, our mutation status provides us with ‘some’ knowledge of how things may progress.

Reading your post has made me realise how ‘lucky’ I am to know the cause of my ET; something I hadn’t considered before! This has at least allowed me to be proactive in my research on the Jak2 mutation. As they say, knowledge is power. I have learned quite a lot. I’m well aware nothing is set in stone - but I have a sense of empowerment in the knowledge that I have gained.

I hope that you get some answers, so you can be as proactive as you possibly can be in your MPN journey.

Mary x

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Mary, I really appreciate your input. You are so right that knowledge is power. Unfortunately, the specialist would not discuss my options if things were to change. She seemed to feel it would be an exercise in futility since nothing is certain. For me it would help manage my anxiety if I know that there will be treatment options for whatever might occur.

She actually told me to stop researching and to simply live a healthy lifestyle as things would or wouldn’t evolve and there is no sense supposing. I just couldn’t seem to make her understand that having information empowers me and provides a sense of control to know I have options.

I left that appointment feeling frustrated & defeated.

I also find it frustrating that the doctors inquire about symptoms but don’t offer solutions and in some cases such as the fatigue seem to deny it’s even connected.

I will seek a second opinion and the Mayo Clinic though not close to me is at the top of my list. The fact that they have accepted and conducted studies regarding MPNs and fatigue gives me a sense that they listen to their patients.

Thanks for understanding

Christina

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Hi Christina,

I agree with Rachael . The Mayo Clinic Arizona is in the forefront of MPN research.

I wish you well,

Wyebird

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I understand that your desire to know 'what if' is very strong as it probably is with most of us. However, I can understand that your haematologist's view that there would be no point in discussing it is valid too. As you have been told progression could occur even twenty years from now or not at all. Just think of the progress that is happening with working with genes right now and where that could lead in time. Who knows - in ten years from now they might be able to snip out and replace all our faulty genes. There is so much hope out there right now with the research into causes and treatment that a hypothetical discussion of what might take place in five, ten years or longer could be completely irrelevant.

I was diagnosed with ET 23 years ago and although I have now progressed to MF there is SO much more knowledge about our MPNs now that I still live in hope that a new treatment might be found in time for me

Getting a second opinion can sometimes be reassuring and it is always a good thing to talk to the people who are well up to date with the MPN story. However, we are all such individuals with this disease that nobody can accurately predict the future for any of us.

Live for now and make the most of life. Worrying is a fruitless occupation- although we all know that not worrying is a difficult state to achieve!

I really wish you all the best, Jan

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Hi Jan, I appreciate your writing and agree that progress is being made every day with potential treatments. Unfortunately, due to the fact that the majority of existing treatments and scientific break throughs are targeting specific gene mutations, I am not a candidate. I am negative for all possible mutations. This is why I’ve come to understand that my risk of potentially developing leukemia is 50/50. Not great odds. Thus my desire to better understand my options should the worst happen. It would be a comfort to know that something could be done should the need arise. My thought is that a medical institution such as the Mayo Clinic might have clinical studies for patients with my genetic profile making the odds a bit more in my favor.

Best

Christina

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I understand your concerns about non mutations but some of the evolving treatments appear to be effective even in patients without the specific mutation. e.g. Ruxolitinib.

An American named Harvey Gould died recently from an MPN. A foundation has been started in his name to specifically look at the root causes of MPNs rather than developing drugs to cure/alleviate symptoms. They will be particularly interested in folk who fit an MPN profile but without the known mutations I am sure.So you see there is a lot happening worldwide that makes the future look a lot brighter for all of us.

I personally chose not to go down the what if route but I fully respect the fact that we are all different. I hope you can find some answers to your worries and wish you all the very best

Jan

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Thanks Jan, that’s a great piece of information. I’ll look into the foundation.

This is why I am so glad I found our forum. You and everyone here has so much valuable information to share. Everyone is so generous with their support and knowledge.

If you come across anything else please let me know.

Christina XO

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Hello Christina

It's amazing how different we all are and great to get so many opinions. I myself have MF for three years now having progressed from PV. Although it was a bit of a shock at the time, I take Rux and honestly feel heaps better than I did three years ago with the PV. I am definitely one of those who never looks too far ahead, am not very curious and content to listen to just what the Haem tells me. Mind you I go to Guy's Hospital in London and they are the best. I work on the principle that they see the whole picture and tell me what I need to know. I also don't read the internet unless I am told of a specifically relevant article like those from the Mayo Clinic for instance. Try not to worry too much about what is ahead other than the possible cures which I am sure will happen in the not too distant future. Best wishes to you anyway.

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I appreciate your sharing your experience and the support...thank you.

I suppose my main concern is that the meds available are designed to switch off and target the genes that have mutated, such as JAK2. Because I have no mutations I don’t have the same beneficial options as over 90% of MPN patients.

So the possibility of my MF evolving are much higher. Knowing my options should it happen would ease my mind because Id have a game plan. As long as I have a game plan I’m able to set it aside and settle into the everything is okay because if it happens I can do A, B or C...

Thanks again

Christina

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Hi Christina,

First, I’m sorry to hear of your troubles. It’s a lot to deal with. Have you had a BMB? I did, and although they classified it as low level fibrosis I’m told that’s meaningless. I saw the person, Dr Syrdan Verstovsek, at MdAnderson Clinic whom I consider the ‘ guru’ of MPN’s. He knows every trial therapy out there, when to enroll base on your unique situation & he oversees tons of them & his clinic may have involvement in almost everyone.

But perhaps most to you is what he said about scarring or fibrosis which is what often results in the label of MF. If that’s the basis of your label the following info is helpful.

The amount of fibrosis when categorized as mild is not a measurable or quantifiable level. And many people who don’t even have MPN’s will have scaring described as having mild fibrosis (which simply means scaring). He told me that I shouldn’t worry about it progressing.

Ruben Mesa, who was the main star at Mayo Clinic just switched jobs & moved to one of the clinics in Texas. If it was my money I’d go to Verstovsek because he knows everything and can get you into trials if you are ever at that stage.

I hope you realize this is just my opinion and I hope I correctly described his conversation to me. There are many hotels there but The Rotary House is connected by skywalk you walk or take a tram, it’s reasonable & nice. I know seeing him was really valuable for me & eliminated many of my fears Good luck! Keep us posted. Katie

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Hi Katie,

I just had an appointment with MDA Dr. Pemmaraju, Dr. V's colleague. I was totally blown away by Dr. P and the whole team approach, felt very reassured. Waiting for my next visit to find out what my new diagnosis is. I was diagnosed with ET, but it appears it is progressing to something else, perhaps myelofibrosis.

Definitely, everyone should see the specialist! I know when I go back I will have a treatment plan, which brings a lot of solace.

Take care!

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Hi Christina, I am also ET triple negative. I was diagnosed about 2 years ago (started on anagrelide but couldn't tolerate it. I moved onto Hydroxy and also suffered side effects though they have, for the most part, lessened and are tolerable!). My platelet levels go up and down and can be anywhere between 400 and 1200. Anyway....

The triple neg diagnosis never really bothered me until the last few weeks when I became aware of the potential higher risk of progression. I started researching to try and establish facts and solid research evidence. Unfortunately I have been unable to really find anything that is understandable (scientific papers only, which I find difficult to interpret fully). So I did a search here and found your post.

I agree with you, I would like to be more informed in order that I can make choices based on evidence. I did read in one paper that there is evidence to suggest that there is little point in ET triple negs taking Hydroxy, which is something I will bring up with my Haemotologist at my next appointment, particularly due to my sporadic platelet levels and the side effects I experience from the Hydroxy.

Nevertheles, this is one of the options and choices I would like to make, along with others (if there is a higher chance of progression and thus a potential reduced life expectancy, then I am most certainly off on a GAP year), with as much knowledge as possible.

So if you acquire any clear and understandable findings I would much appreciate feedback.

And I will do the same if you would like?

Otherwise, take care, Sue

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Hi Sue,

Thanks so much for writing. Like you my research has said we as triple negative are at higher risk in part because our treatment options are limited. I did however receive a message from Maz a bit ago that I’d like to think is true, because it’s the first positive bit of information I’ve received though I haven’t found any medical journal confirmation. I’ve copied/pasted below.

“Hi Christina a similar question was asked at our recent Living with MPNs Day, it was:

Would it be possible for the panel to bring everyone up to date on the latest research findings regarding 'Triple Negative' (ET). Is it correct that 'Triple Negative' patients have a greater risk (up to 30% more) of developing MF than people with JAK2, CALR or MPL and would the length of time since initial diagnoses of the ET condition have any bearing on this possible outcome?

the reply from one of the panel was:

TRIPLE NEGATIVE ET APPEARS TO BE THE MOST BENIGN OF ALL THE MPN THERE ARE MANY INTERNATIONAL GROUPS EVALUATING THIS.” Maz

Sue let’s hope that this is the case. Meanwhile I’ll be sure to share any information I come across.

Warmly,

Christina

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Did Maz say from who this comment was from and from what evidence/research groups are evaluating? It would be good to follow their findings, as it contradicts (in a good way for us) the current predictors in terms of progression to MF.

I did also read something the other day (I will send it when I find it again - I think it was on the Mayo research site) that said that there is a small percentage of triple negative (yes more rare) that are hereditary. The scientific jargon got the better of me so I stopped reading and am not sure if there is any different treatment or outcome of this off shoot? I will forward the link if I find it again.

Thanks for your reply and take care

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