My Heamatologist said I most likely have ET and mutation tests showed I have JAK2

[Pachena]

Hi to you all and thank you for this forum as I’m learning so much from the chats 🌸

I was involved in a sleep study last year which was trialling larger doses of Lactobacillus to see if it helped the sleep hormones in the gut.

Maybe I had the placebo 🤷‍♀️ as I didn’t find any difference. I received full health checks at the beginning and end of the tests.

Then sometime later I received an email with an attachment from them saying their physician strongly advised me to see my GP to have more blood tests done as my platelets were too high and going up.

So I saw my Doc who asked for tests and also wrote me a referral to a Haematologist here in Brisbane, Australia. This all happened less than a month before we were to leave on a 3 month trip to South Africa on the 1 Feb. Then less than a week before we left I told my doc I was getting a lot of pressure in my chest, into my throat and jaw and down my left arm. It sounds like heart attack tho it would come and go so I thought maybe I needed some Meds for angina. Well my doc flew into a panic to get tests done before I left in case I needed surgery. It was all a whirlwind. Thankfully my heart was completely healthy. (I still get pressure come and go and I wondered if it was a symptom of ET…?)

I saw the haematologist 2 days before we flew out and she said that the mutation tests had not come back in time. She wrote down the following for me.(Pic above)

She started me on Aspirin straight away. I wasn’t too concerned as I had looked up high platelets and had seen ET mentioned tho thought it was something trivial. As I have Hashimotos, Lichen Sclerosis, arthritis, anaphylaxis and Post menopausal at 60, I just thought well I have enough inflammation in my body so it’s likely reactive.

Life was so busy I didn’t look up anything from her list…

My doc has told me to get some pads (similar looking to tens but works differently) that go on the back of your calves which push the blood around to keep any worry of DVA’s away. However I wasn’t able to find them before we left. So I just wore stockings and moved around a bit in the plane.

My haematologist phoned us here in South Africa 3 weeks later and said that my results had shown I was JAK2 positive and that I had ET. She said that it is usually not treated except by aspirin until the age of 65 unless I’ve had any TIA’s/stroke/heart issues in the past.

(I have had 2 TIA’s in the last couple of years tho my GP said there is nothing you can do about them. Just warning signs to take good care of myself.)

So she said she would follow that up with my GP and if I had still be in OZ she would have started me on Hydrea and booked me in for a Bone Marrow Biopsy, she said it only takes a week to get in. She said she would see me as soon as we were back for more blood tests and a bone marrow biopsy a week later.

She asked if we had any questions and we said no. We really had no idea what it all was.

So the next day after her phone call, I decided to look up Hydrea and was stunned to find it was a chemotherapy drug. That got me going and I thought, oh really, what is this Essential Thombocytosis? That’s when Google told me it was the same as Thrombocythemia and it was a blood cancer. I was stunned !! I’m actually quite a well person with lots of niggly things going on, so it was hard think of what was happening inside 😲

Then I saw on Google that it was a Myleoproliferative Neoplasm… 😯 So I looked that up and I thought I think I’ve heard that name before… My sister in law (42yrs) found out she had blood cancer 2 years ago. She takes anti organ rejecting drugs for her ulcerative colitis so was floored to find out she had blood cancer tho she said it was the best kind to have if you have cancer. They have 5 year old twin girls. Anyway, so sorry for the long write up. I contacted my SIL and asked if this what she had, ET and she said yes tho she doesn’t have a mutation. I thought wow, for a rare disease and to find out I had the same as her… 😲

My SIL suggested I join the Australian MPN FB group and then I found this group online for which I’m grateful.

So I have a lot swirling around in my head atm. I’m not so worried but it doesn’t stop my mind tossing it around.

My husband’s first wife died very quickly of lung cancer (didn’t smoke) and his jaw just dropped when I told him what I had found out online. I know we shouldn’t put too much faith in Dr Google as it can put one in a spin.

The thought of going on chemo does make me hesitant/questioning…. Is this the only option?… if I don’t take them, 🙈 how risky is life… Silly questions tho I’m guessing most people go through this stage when they find out 😯

Also I had heard a long time ago that bone marrow biopsies were painful but my Heamatologist told me she would put me under for it so not to worry. I’m guessing the bone marrow test confirms the diagnosis?

I have found it helpful to read others questions on here about how they have coped with the intrusion of an MPN into their lives.

I did wonder if I could treat this condition by changing my diet as I’ve heard of many who helped their cancers by juicing and modifying what they ate. However for this one, it doesn’t seem like that would be the case…

I’m rambling now, I just wanted to share how my mind has taken me on a journey in the last month since my haematologist’s phone call.

We arrive back home in a month. I see the specialist on the 2 May.

My husband said to have a heap of questions ready to ask.

Can you suggest what would be handy for me to ask please?

Thank you for your time 🌸

[hunter5582]

Hello and welcome to the forum. This is a great place to find support, and information and experiences from others with a MPN

We certainly can all understand the shock of finding out you have a "blood cancer." It is important to understand that ETis a chronic condition, not an acute disease. Many of us look at it as cancer with a little "c", not cancer with a big "C". Most people with ET live a normal lifespan. You are more likely to die with ET than from it.

I was diagnosed with ET 30 years ago. It progressed to PV 9 years ago. Now age 67, I have lived a good life and continue to do so. I have had to learn to manage some MPN-related and non-MPN issues. I have learned to manage them successfully. You can certainly do the same. You will have plenty of time to do so.

There are some things you will learn as you are on this journey.

MPNs are at the core, inflammatory disorders. Deregulation of the JAK-STAT pathway does more than make too many blood cells. The JAK2 mutation also causes the overproduction of inflammatory cytokines. This is thought to cause many of the secondary symptoms we experience. Controlling systemic inflammation is an important part of managing a MPN. You correctly identify that diet is one of the helpful interventions. The best evidence is for the Mediterranean Diet, which some of us follow. Some of us also use anti-inflammatory supplements like curcumon and N-Acetylsistiene.

Familial MPNs are a known phenomeum. The predisposition to acquiring the driver mutation does run in families. My daughter also has the JAK2 mutation, She has ET that may be progressing towards PV. There is some interesting research on this topic.

Hydroxycarbamide (AKA - hydroxyurea - HU) is only one of the treatment options for ET. The current other primary treatment option for ET is Pegasys. You are correct that HU is a form of chemotherapy. It is a cytotoxin that interferes with DNA activity, reducing hematopoiesis. Pegasys (PEGylated interferon alpha 2a) is an immune modulating treatment. It also reduces hematopoiesis. The interferons appear to more specifically target the mutated hematopoietic stem cells that harbor the JAK2 mutation.

We are each different in how we respond to these medications. Some do better on one than the other. There is no way to know in advance how anyone will respond. You just have to try one and see how your respond. Note that many healthcare systems prefer to use hydroxyurea due to the cost (month supply = $25.00/60 tabs vs $4,177.00/4 syringes).

There are also second-line treatment options such as anagrelide and ruxolitinib. There are also medications in clinical trials that may be available by the time you need to consider cytoreduction such as Besremi and bomedemstat. You will have plenty of time to learn more about your options. Here are a couple of articles that may help.

mpnjournal.org/how-i-treat-...

legeforeningen.no/contentas...

These are some good presentations.

mpninfo.org/conferences/202...

It is very important to consult with a MPN Specialist, at least periodically. MPNs are rare disorders and many hematologists have little experience with them. It is worth travelling if necessary. Here is a link that includes docs in Australia.

mpnforum.com/list-hem./

All the best as you embark on this journey.

[Pachena in reply to hunter5582]

Thank you Hunter for all the information you have shared. A lot is over my head but I’ll certainly investigate it and I’m sure in time I’ll become more familiar with the terms.

This is what is written about my Haematologist-

Rebecca has a diverse interest in the diagnosis and management of both malignant and non-malignant haematological issues, including:

 Diagnostic work up of abnormal full blood counts

 Multiple Myeloma

 Chronic Lymphocytic Leukaemia (CLL)

 Chronic Myeloid Leukaemia (CML)

 Myelodysplastic Syndrome (MDS)

 Myeloproliferative neoplasms including polycythaemia and essential thrombocythemia

 Lymphoma

 Haemochromatosis

 Iron deficiency

 Thrombosis including deep vein thrombosis

Dr Rebecca Cleary MBChB, FRACP, FRCPA

I’ll also look at your list of MPN specialists here too.

I feel better having found this forum and for the advice and support given here.

Thank you so very much. My husband is also very relieved to hear that I can live a good life not shortened by the cancer 😊

[hunter5582 in reply to Pachena]

When selecting hematologist, I ask several key questions.

1. How many MPN cases have you treated? ET? PV?

2. What recent training/conferences about MPNs have you attended?

3. What research/publications have you done? (I actually look this up myself).

4. Are you willing to collaborate with a MPN Specialist?

Your husband is very fortunate that he will have you around for a long time. You both can enjoy a good life together.

BTW - If it turns out that Dr. Cleary is a MPN-expert doc, please add her to the MPN Forum list. Others in Australia are looking for a MPN Specialist too.

[Pachena in reply to hunter5582]

Many thanks Hunter for so much help and support. Are you by chance a medical doctor yourself? Your knowledge and answers in this forum amaze me 😯

I appreciate having those questions to ask and I will add Dr Cleary to the Forum

List if I find out she is an MPN specialist 👌🏻

🌸🌸🌸🌸🌸🌸🌸

[hunter5582 in reply to Pachena]

Thank you for your kind words. I am not a medical doctor. My background is actually in clinical psychology. This taught me how to do research. Once I realized how little I knew about MPNs, even after living with one for decades, and what the cost of not understanding the condition could be, I decided to learn what I needed to know. We have to understand the conditions that impact us in order to make informed decisions. My old hematologist misdiagnosed me back in 2013 when I had clearly progressed to PV. In hindsight, the progression is obvious just by looking at the blood work.

Lessons learned = Educate yourself so you understand your conditions. Consult with an expert in MPNs (or any other rare disease). Partner with your provider(s) and actively engage in shared decision making ensuring fully informed choice.

Wishing you all the best as you move forward.

[Pachena in reply to hunter5582]

thank you, I will research it as the more I’m learning here, the more I realise how little I understand about ET.

Many thanks, grateful for you in this forum, Hunter 🤩

[Myers75]

We've all been there. I completely understand your fears and worries. I am also a newly diagnosed with ET. Lots of fears and doubts at the beginning. Hunter told you all the info you nned to know about it. For me it actually was a good wake up call to totally change my life. I began living really healthy and it's all we can do. Got to say you found the best place to talk about it and to know the people that are also living with it and keep it under control Good luck.

[Pachena in reply to Myers75]

Thank you, Myers 🤩

It certainly is a wake up call. A blessing in disguise 😊

We have been sort of following a low carb diet for the past year as my husband wanted to lose weight. I have been following a menopause course which encourages the Mediterranean diet and also highly recommends Prof Longo. I watched a video of his yesterday on YouTube and I felt much better about the chemo tablets after listening to him. The power of food! He said that chemo and good foods together were a very powerful combination to combat cancer. I felt we weren’t eating enough veges and had cut out fruits except berries so I’m looking forward to more variety and hopefully we can maintain a healthy weight. I have a wheat allergy which has been a help as it cuts out a lot of processed foods.

I’m looking forward to getting a healthy routine into our lives. One day at a time 😃

Thank you both 🌸

[Catherine04]

I remember feeling the same exact way as soon as I got diagnosed about 8 years ago age24. I remember being so worried about the future. And so scared. Reading the book “The power of now” really helped me live in the present moment and try to relax after feeling like I was panicking inside. After having a BMB I was diagnosed with ET and Jack2. And ptsd from being terrified to think my son would grow up with out a mom. I am on baby aspirin twice daily. Thankfully, I was able to have another baby and do my check ups ever 6 -months.

Will be trying DR.Sebi intercellular cleanse and alkaline diet. Hopefully that will help my platelets go down. I’ve heard this is the best thing for people with blood disorders. I never loose hope!

[Pachena in reply to Catherine04]

Thank you, Catherine 🤩 I can only imagine what a fright it would be to get that diagnosis at your age 😯 🫢

Thank you for the thumbs up on that book 👆

I’m glad for you that aspirin is all you need to take and that you could safely have another child 🤩

I haven’t heard of Dr Sebi and his cleanse. I’ll look him up.

After reading through the links that Hunter so kindly shared, I feel much lighter and positive for our futures. I am very thankful for this forum 😊🌸