Today I received confirmation of a positive JAK2 mutation.
Unfortunately, the consultant's letter is a bit vague and has written that I have a blood problem - yes that is how they describe it. They also said my ferritin levels are at the lower limit of normal and my iron studies indicate a 'subclincal iron deficiency'.
The letter hasn't actually said that I have been diagnosed with Essential Thrombocytheania however the consultant did request that information on this topic be sent to me. The information that I received was on 'Myloproliferative Neoplasms'. with no covering letter.... I appreciate that ET is one such MPN.
They also said that I would be starting 'some treatment' which will be discussed with me at the next appointment.
I do feel a little let down receiving such a vague letter - or am I overthinking it?
In the meantime my case will be discussed with the MDT so hopefully I will get a better understanding of what this all means for me by my next appointment.
Thank you for reading my post.
Written by
bluebird567
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Thank you for responding Mostew. I live in the South of England. After receiving the booklet on MPN's and a leaflet on hydroxycarbamide four days before receiving the letter from Haematology, I tried to phone the department but after an hour of music and ringing tones, I decided to give up. My appointment is 12th November so not too long to wait. 🤞
High again Mostew, Thanks for your kindness and attention. As I have so many questions which I don't believe will have a quick or a one line answer, I have written a letter and asked if the team can go through my questions before or after my appointment with the haematologist. I didn't want to burden the haematologist with so many questions at my next appointment - appointments never seem to be long enough. Can I ask? Do you have a key worker or specialist nurse for general contact? I have requested for one. 🤞Many thanks.
I can understand why you are feeling let down. Seems pretty impersonal and vague way to be treated. You are right to expect more. This is a safe place to let off steam. Hoping your next appointment goes much better, yielding meaningful information about test data and what to do about it. Good luck!
Thank you Mishie. After receiving the letter I did feel a bit down so reached out to you guys who are so knowledgeable, kind and made me feel less lonely. Thanks.
I would agree that you are not overthinking this. This does not sound like a particularly helpful nor informative letter. Given what your describe, your assessment that this is likely ET seems reasonable. You do need the final confirmation that you meet all criteria for ET rather than another MPN. The issues with your iron levels is relevant and part of the overall diagnostic picture. Amongst other things, iron deficiency can mask PV, making it look more like ET. That is not to say that this is your situation, rather that a comprehensive look at your profile is needed.
It sounds like you may be seeing a regular hematologist rather than a MPN Specialist. MPNs are rare disorders and may doctors, including hematologists, have little experience with them. Optimal care requires MPN-expert providers. Here is a list. mpnforum.com/tsr-the-list/
MPN Specialist consultation is also important in deciding on a treatment plan. There are several options for cytoreduction if that is indicated in your case. The best providers make a point to review all options with the patient then engage in shared decision making to select the treatment.
Thank you Hunter for your advice. Dare I say it, you seem to me to be more knowledgeable than the haematologist. At my last appointment I wasn't able to ask questions as the results weren't available, however I have decided to write to them with my questions so they can be addressed at my next appointment, including asking for a referral to a MPN specialist. And many thanks for the valuable links you provide. They are very well appreciated. Thank you.
Going into all appointments with a list of questions is a very good idea. I go to all medical appointments with a written agenda. I give a copy to the provider at the beginning of the appointment. This is the structure of the agenda.
Treatment goals:
Define for your doctor what your priorities are. Can be very specific at times.
Treatment Approach
Define what your approach to treatment will be. Make this specific to your treatment preferences. ALWAYs tell your providers about all the interventions you use.
Updates/Issues/Questions
Write out the symptoms and issues you are having and a list of your questions. Always include a holistic review of what is going on, particularly with specialists. Only give updates/changes to an existing provider. Do focus on what is relevant for this appointment.
Treatment
Review all treatment options – let the doc know what you are doing now and seek input about what to do next. Ask about ALL options, not just the one the doc recommends. Ask the doctor why the recommended option is better than other choices. Ensure that it is your goals and preferences that drive the decision about your treatment. This includes your risk tolerance and what risks you prefer to take to achieve your treatment goals.
I also go to the appointments with written copies of any relevant labs or reports from other sources. I never assume the provider has them. I also cross check the medication list in the record since it is often wrong.
My doctors appreciate the approach I take since it allows us to work together efficiently and effectively. Being organized and focused in how we manage our own cases works best for everyone.
Hmm - 'blood problem' and 'some treatment' do sound vague. It is possible the MTD will have a specialist who can help your Consultant narrow in on the flavour of MPN better.
My Jak2 test was not organised by haematology, so I received the positive result in an email and then had a wait for haematology follow up and explanation. Initially they just said it was an MPN; narrowing down to PV came later (I think once my (experienced but general) Haematologist had discussed my case with input from the specialist in the adjoining geographical area at the MTD they suggested PV. I then made a private appt with the Specialist and he was clear based on my history of blood results).
I think the starting point is ET (mainly showing as raised platelets) and then if things like HCT, WBC and RBC have had a tendency to be raised it would be re-categorised and perhaps further tests run (EPO, blood smear, maybe more genetic tests or Bone Marrow Biopsy). The HCT seems to be a particular deciding factor, but that could just be my experience.
As well as the huge amounts of useful information and shared experienced on this forum I found it helpful to look at the main MPN Voice website.
Thank you Round the World for your reply. I am slowly getting my head around all the acronyms. I have so much to learn and feel so grateful for this forum. Thanks.
I looked back at your earlier posts and notice you have one sided deafness. I have ‘profound’ one sided hearing loss (since childhood) and like you had briefly read about NF2 as a possible link (various MRIs have never shown an acoustic neuroma though). My grandmother had a neurofibrosarcoma so I vaguely wondered about common genetic mutations when my PV was diagnosed earlier this year but the MPN Specialist didn’t think there was a link.
Thank you for your reply. Sorry for the long post. I am no expert in cell biology and feel that there is so much more research needed.
My son has NF1, first discovered at age 7, after failing a school eyesight test. The family were tested at that time and it was considered he had a mutated gene, on chromosome 17 rather than it being inherited.
.... Chromosome 17also affects the BRCA1 gene (indicator to early on-set breat cancer), the DNA damage (TP53 damage response to P53 protein) as well as NF1....... In NF1 the mutated gene causes a loss of nerofibrorim (which regulates the production of cells) and causes the cells to grow without control. .....This goes way above my head.
With an acoustic neuroma, also know as a Vestibular Schwannoma, it has an over production of schwan cells - very much like NF2 - both effected within chromosome 22. Also NF2 is usual bilateral and an AN just one sided.
Regarding TP53, I have heard this muted when talking about MPN's but again, this is way over my understanding.
With your Grandmother's neurofibrosarcoma, believed to be affected by chromosome 17- it does sound that there are conections. We need the experts!
Well that's clear as mud (on my part)and if you got this far thanks for reading the post.
Thanks bluebird (and sometimes there is just a lot to say!). Hope your son is doing well. The genetic side of things is very interesting but very quickly goes over my head too.
I know I don't have any acoustic neuroma (have had a few head MRI over the past few years). I'm waiting for results from some additional genetic testing (don't know what it will include and am obviously hoping it will show no other mutations or only unimportant ones. I have previously had BRCA1 testing and was negative for that)
Your story caught my attention as I've noticed NF1/NF2 mentioned more than once here - very possibly coincidence, but we're all keen for answers or to help provide clues to researchers and obviously both NF1/NF2 and MPNs are rare in the first place so a few familial trends may be of note.
Hope it all goes well for you in your appointment next month and you get some clarity and a plan.
from what you have said, I think they are not doing a very good job and should be doing better. They should be explaining more about which MPN you have or doing further tests.
You’re not overthinking it. I don’t think low ferritin or other iron defiency indications are caused by ET, there may be other reasons for low ferritin etc but is very common when diagnosed with PV. It would be interesting to see your CBC if you have one.
Thank you Ainslie. It would seem the haematologist that has looked at my results is perhaps not a specialists in this field. Hopefully, once the MDT get together, I will get more answers. I am definitely feeling less stressed. Thanks to all the support on this forum. 👍
I was also diagnosed with ET recently. I had to have a bone marrow test which was painfull. I'm 66 and pretty fit, and the first letter said I had a platelet count of 730 and I would just need a daily aspirin (CALR). Then after a phone call a second letter said aspirin + hydroxycarbamide. I routed around the i/n and found paper on New England Journal of Medicine , vol381no22 and did some extensive research. I've decided to wait 'till my platelets reach 1000, then embark on HU.
Hi Nathan, It's interesting to read you are delaying your medication. I haven't yet been asked to have a bone marrow biopsy and believe it can give a more in-depth view of your MPN. Were you diagnosed with ET after your biopsy?
Yes, the blood test didn't find it. The bone marrow was about 10secs of pain, but at least it was over (detected CALR). I have read a detailed paper on the New Engl Journal (vol381, 22) and decided to put off the HU till the platelet count reaches 1000.
Do you have a local branch of the Macmillan charity? They can be very supportive in all kinds of ways. I owe so much to them. They have a desk in our oncology/haematology department, which is how I was referred to them. I guess you would probably need a diagnosis before they can help, but worth asking.
Thank you Leveret. After a little research, I do indeed have a Macmillan branch in my library. Once I have more of a handle on this I'll check out when they are 'open for business'. Thanks again.
Well you have found a really good site here to help you. Everyone is lovely and polite and really helpful and knowledgeable. Your experience is a little similar to mine. The booklet was my main source of info and the internet which can often be a bit frightening. It’s not as bad as it sounds and there is quite a choice of treatments for us with jak2. This site will be able to help you with that info when you are ready. Just ask. We are all here to support each other. Let us know how you get on
Thanks for your reply Hopetohelp. In actual fact I have found this forum a great place for detailed information on this subject. People's openness and sharing of their actual life-living symptoms, hurdles and positives along the way are much more meaningful than the literature provided in the booklets. You could say it's that human touch. And how informed and knowledgeable you all are. Thank you. Needless to say, I very much appreciate all the information provided by MPNvoice, Blood Cancer UK and the Macmillan Cancer Support too.
sorry to hear that you’re having issues with your doctor , I really hope you manage to get it sorted out as quickly as possible.. You should have been given an information pack on ET along with a list of your doctor’s and also a specialist nurse with their name and contact number. They are the ones who are fantastic at putting your mind at ease and helping you to understand your diagnosis. I’m lucky as many of us have been in that the hospital recognise ET for what it is.. my GP in the other hand has very little knowledge about it.. that’s why your nurse is crucial … take care and I hope this was helpful
I had similar experiences with my diagnosis. They told me that I had a Myloproliferative Neoplasm called Essential Thrombocythaemia. My other half was there. She is a nurse and said, oh my God, that's blood cancer. I said of course it isn't, they would have said of it was. But of course, the doctor nodded and confirmed that it was a type of blood cancer. Why don't they just come out and say it straight? There was a campaign called 'Just say cancer.' Stephen Fry was one of the speakers. I totally agree. 'Just say cancer.'
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