New and undiagnosed

[Atlasthedog]

Hello 30M I am waiting for my first appointment with a hematologist. Unfortunately every one of them around me has been booked until October. To my understanding and all my research signs point to ET. I tested positive for v617f. All levels on cbc with Auto/dif are completely in normal range except for platelet count. They seemed to have spiked sometime in the last 3 years. Looking more into it tonight I am seeing a lot of percentages but on my JAK2 test under value it just says “comment” I’m wondering if anyone has seen this or has any input. Platelets are between 450k to 550k.

[RoundTheWorld]

Hello. I am quite new here too. Well done for finding this forum and hopefully the main MPN Voice website. It helped me to read up so that I went into my first haematology appointment with prior knowledge of likely diagnosis and some of the treatment options.

While you are waiting for your appt. regular gentle exercise, staying hydrated and avoiding long sedentary sessions (e.g. long haul flights) are helpful. If you are concerned re. platelets perhaps see your GP and ask if a low dose antiplatelet is in order ('baby' aspirin is most common as the first approach).

Re. the percentages - that's likely to be allele burden (percentage of the disorder, which can vary a lot). Not all labs include the percentage in their testing (yet) so they may just not have a percentage result to tell you.

Are you in the UK? My electronic patient listings (rather than within a document) have occasionally shown 'comment' - that seems to mean there is additional info. that I can't see but the GP can. Whenever I've asked the surgery has been happy to let me have the extra info; I think it is just an admin thing in my case (perhaps the other info. is stored on another system and they haven't copied / attached it).

There is one aspect which they intentionally keep from me for a short time. My monitoring blood tests are requested by the Haematology Consultant at the local hospital. Results are loaded to their Haematology IT System and not routinely coped to my NHS app or local area health app for me to see. I queried this as I wanted to be able to track response to treatment easily. I was told that it is the Consultant's remit to explain any changes to me and they don't want patients to see the results before this has happened. Once the Consultant has spoken to me I can request a printed copy of the results from the GP's surgery and collect it there. I think the GP can see the results straight away (if they know to go and look for them) but as a lookup on the Haematology system rather than having had them pushed to their own system.

It's clunky but aims to prevent the patient getting worried by results that they haven't yet had explained to them. Ideally I'd like these to be routinely copied to my general NHS record once the Consultant has spoken to me but as the NHS is under a lot of pressure (and they are consciously avoiding timing mistakes) I figure I have a workaround.

Hope that helps.

[Hbm1 in reply to RoundTheWorld]

A quick comment on this. I too was frustrated at not being able to see my blood tests results on the NHS app but I’ve got round this by having the bloods done at my surgery. These go automatically to the hospital but the surgery are quite willing to request that a copy comes back to them and it then goes on to the app allowing me to look at the results before I have my appointment with the Haematologist. I like to be prepared and have my questions ready so this method suits me.

[RoundTheWorld in reply to Hbm1]

Thanks Hbm1. I tried to book at my surgery last time but timings didn't work- will try your approach this time round.

[Mazcd Partner MPNVoice]

hi Atlasthedog, welcome to our forum. I am sorry that you will have to wait until Oct for your first appointment with a haematologist so that you can find out what these results mean for you and whether or not you do have ET.

As RoundTheWorld has said, I would suggest that you have a look at the information on our website about ET, there is lots on there which I am sure will help you.

With best wishes, Maz

[hunter5582]

Hello and welcome. Glad you found your way here.

Sorry there is such a long wait to see the hematologist for confirmation of your diagnosis. Now would be a good time to start looking for a MPN Specialist for consultation. MPNs are rar disorders and most doctors, including hematologists, have little experience with them. Here is a list mpnforum.com/tsr-the-list/

You might be able to see the "comment" if you log into your patient portal. It is worth checking. As RoundTheWorld noted, the JAK2 test can be either qualitative or quantitative. The % = the variant allele frequency (AKA mutant allele burden), which is the percentage of hematopoietic stem cells that carry the JAK2 mutation vs the Wild type (normal) cells. This number does matter as it is related to disease status and symptom burden, but it is not a purely linear relationship. It is more complex than just that one number.

Given what you describe, it is reasonable to think that you may have Essential Thrombocythemia. As Mazcd suggests, it would be worth learning more about ET so you are prepared for your appointment and can ask the questions you will want answered. A few facts in advance include that properly managed, people with ET can expect to live a normal lifespan. You are more likely to die with ET than from it. You are going to hear that ET is a blood cancer, but be aware that it is a chronic condition, not an acute disease. Consider it to be cancer with a little "c" rather than cancer with a big "C".

In the absence of thrombosis, PLT>1 million, or high risk co-occurring medical conditions, someone age 30 with ET would be on an aspirin and monitor protocol. I was on this protocol for many years after I was diagnosed with ET over 30 years ago.

There are excellent resources to learn more about MPns. MPN Voice is a great place to start, In addition, these presentations provide a good base of knowledge. Suggest starting with MPN Molecular Biology. mpninfo.org/conferences/202...

Wishing you all the best.

[william-Indo]

Platelets 450-550 is okay.

While awaiting your appointment, you may take baby aspirin and keep hydrate.

Write all the simptom you experiences and questions to ask to your doc.

Cheers

[Atlasthedog]

Thank you everyone for the replies. I am in the US and luckily have a Simon specialist at a somewhat local hospital. I have been doing as much reading as possible. And will update when I hear more.