Update 3 on appointment

[LittleLuna]

Glad to see my Haematologist is being proactive. I wonder if it is being firm in mentioning MPN Specialist and learning so much from everyone here before my appointment. I felt armed with some knowledge. I have learned so much from you.

She has emailed me again today to say she has emailed a colleague who is MPN Specialist for his opinion. Says there are some odd features to my results, my EPO is normal and this is normally low in PV. She wants to do more molecular tests on my prior samples. She is considering a bone marrow and next generation sequencing.

So this is good news, progressing faster than expected so happy enough. Roll in next week. Its the waiting game and uncertainty that is frustrating. Once I know what I have to deal with, MPN or something else, i can deal with it.

Thanks everyone

Hi Folks.

Another update as of this evening:

So just got email from my Haematologist “

“ I phoned the lab today to clarify the JAK 2 result. The test result has nothing to do with the sensitivity of the test but it is related to the allelic burden. I will give you a call next week to discuss this further. ”

I am thinking this confirms JAK2 mutation therefore likely PV. Am i right in this re allelic burden? Its all so technical and confusing to me.

I hope she calls me soon

Adie

I have just had my second appointment with another Haematologist in Fife following my second JAK 2. Still no further forward. Apparently my JAK 2 V617F is still an equivocal result so they don't know what that means. They have to speak to someone in Edinburgh who is on holiday at the moment to find out, could this be PV or not.

There appears to be no MPN Specialists in Fife but I am not pushing for referral (yet)as I still do not know if I have PV or not. The Locum advised, if it is PV she will start me on aspirin and venesection. Not wanting to do V yet as once I am on it, I am on it apparently. They would not be looking at any other treatments if it is PV due to my age (52 year old female).

It has been quite a stressful time which is extended with the unknown continuing.

My HCT this time was 48 (down .5 from last test) and HBG 167. All others seem to be normal.

Have any of you had a JAK 2 equivocal before? Not sure why this cannot be resolved when it was the exact same as my last result and hoped they would have done some research.

[DonaldOrr]

Probably waiting to getting Mark Drummond. 48 is still high. I was not much older when I was diagnosed and it was venesections till I was under 45 then Hydroxycarbomide. I arranged to see a London Specialist myself and he said I shouldn’t be on that medication at my age. However it’s worked fine for me so far. Hopefully you’ll get sorted soon.

[LittleLuna in reply to DonaldOrr]

Hi Donald. It is a Victoria Campbell in Edinburgh. Hope she works with Mark.

Thanks again for info

Adie

[DJK12 in reply to LittleLuna]

Someone else may be able to correct me but I gathered Dr Mark Drummond works for the NHS at the Beatson in Glasgow but also does private consultations in Edinburgh.

[LittleLuna in reply to DJK12]

Thanks DJK12

[Aime]

Hi, sorry don’t know what is meant by your jak2 result. I am jak 2 and Xeon 12 negative and was originally diagnosed with PV. Saw Mark Drummond privately, as I live in north east of Scotland, and after loads of tests, rediagnosed with idiopathic erythrocytosis, which still means I have too many red blood cells and still need venesections. I found Mark really helpful, patient, thorough and just a nice bloke, wanting to help folk. Some other consultants (not from haematology), I have met have had awful bedside manners and off putting.

Would definitely recommend Mark to you. Take care, E hugs, Aime.

[LittleLuna in reply to Aime]

Thanks Aimee. Appreciate that. I will see what comes and if needed get a referral to Mark Drummond.

Adie

[hunter5582]

Venesection + aspirin would be standard tx for someone your age. Typically do not start cytoreduction until age 60 unless there are other risk indicators. There is research out about the benefits of starting with interferon sooner rather than later. The potential for disease modifying benefit from the IFNs is promising.

Hope you get answers to your status soon. I would suggest contacting a MPn Specialist sooner rather than later.

All the best.

[LittleLuna in reply to hunter5582]

So just got email from my Haematologist “

I have phoned the lab today to clarify the JAK 2 result. The test result has nothing to do with the sensitivity of the test but it is related to the allelic burden. I will give you a call next week to discuss this further. ”

I am thinking this confirms JAK2 mutation therefore likely PV. Am i right in this re allelic burden? Its all so technical and confusing to me.

I hope she calls me soon

Adie

[hunter5582 in reply to LittleLuna]

I would be sure to review this when the doc calls so you can be sure. It may be that the allele burden is so low that the result is uncertain. Hard to say without more info. There is the tendency for ET to have a lower allele burden than PV, but I can't imagine why the lab would try to address that issue.

I think you will just have to wait for the doc. Please let us know what you learn.

[mark382 in reply to hunter5582]

Interesting about age and HU. I'm 66 and still on venesection and aspirin. Alternative medication has never been mentioned and I I haven't requested it.

[LittleLuna in reply to mark382]

Hi Mark. Are you seeing an MPN Specialist. It seems important that those with an MPN have a good specialist to work with

[mark382 in reply to LittleLuna]

No, not MPN Speacialust - assume she isn't. I've been seeing consultant haematologist for 13 years. She did mention about medication at my first appointment, but nothing since. Thanks Mark

[hunter5582 in reply to mark382]

Standard protocol is to initiate cytoreduction at age 60 with PV. Not all hematologists follow the age-based risk protocol. Some take a more individualized approach looking at each patient individually. That makes sense to me as we do not all age the same. My doc said to me "65 is the new 35." I like that doc!

When I did initiate cytoreduction with interferon shortly before turning 66, it was due to actual symptoms. I did not tolerate hydroxyurea and it did not work very well for me. I had to do venesections every three weeks. Eventually I became too iron deficient. I went to an occasional venesection-only protocol after I discontinued the HU, Eventually the iron deficiency symptoms became worse than the PV symptoms. That is why I opted for Pegasys (then switched to Besremi). Ithe IFNs have worked much better for me. More effective and much easier to tolerate.

Hopefully you will continue to find the venesection + aspirin effective for you. If you do end up needing cytoreduction, there are now multiple options and you can choose which approach you prefer. Suggest consulting with a MPN Specialist about this rather than a regular hematologist, mpnforum.com/list-hem./

All the best.

[mark382 in reply to hunter5582]

Thanks Hunter. I would like to think my Haematologist is looking at it as an individual and not just age. As I can tolerate venesection and aspirin I guess best to stick with that for now - not so many side effects. Take care.

[hunter5582 in reply to mark382]

It does sound like your doc is taking an individualized approach. I agree that is better than blindly following a protocol based solely on age. I also used a venesection-only protocol for a couple of years. It worked well for a while, but over time the side effects of the iron deficiency were more bothersome than the PV symptoms. This included fatigue and increased thrombocytosis +200K. My reason for switching to Pegasys was actually to achieve better symptom control and quality of life. I later switched to Besremi when it was approved here in the USA.

The underlying decision point for someone still relatively symptom free is whether the putative benefits of reducing the risk of progression, and modifying the disease by reducing the allele burden justifies the intrinsic risks of IFN tx. The jury is still out on that, though I think the evidence is promising. Still, it is an individual choice with no clear answer at this point.

All the best.

[EleanorPV]

I’m also in Scotland and saw Mark Drummond privately in 2016. I was 49 when diagnosed with PV. The appointment answered all my questions and reduced my stress.

[LittleLuna in reply to EleanorPV]

Thank you Eleanor. See my update, confused a bit still but gut telling me its PV now

[EPguy]

If you have Jak2 V617F this is the more common Exon 14 type. It is surprising they are having so much trouble. As Hunter says, a very low burden, for example less than 1%, can be complicated and sometimes is best studied by different tests than for higher counts.

My take (just my opinion) is the lab knows you have Jak 2 mutation but can't nail the burden (AB) So it might be low and the type of test they are using might be relevant. But it could also be something quite different. Have your Drs been using the same lab for all your tests?

Hope to learn what you find.

[LittleLuna]

Hi. Yes, I believe JAK 2 is tested in Edinburgh but all other tests will be at local lab in Fife

[EPguy in reply to LittleLuna]

If I were getting such prolonged unresolved answers to an important question I would be inclined to seek other sources. (Not different Dr but different lab) Is it possible your Dr has access to other genetic labs? Is Guy's in London an option?

I got mine at a major university which I'd guess is a good place.

[LittleLuna in reply to EPguy]

I will ask this when I speak with her next week. Thank you for the advice. I expect there will be other labs in Scotland with facilities to do labs too.