Very scared for life. Need assistance

[Xuzy]

Hi. I'm 23 year old male. I've been known to have polycythemia since 2018, records showing high hb since 2016 itself.I made several trips to the hematologist. Initially I've been suggested just jak2v617f and exon 12 mutations and epo level that came 10.5 m/iu

I changed the doctor because he wouldn't give me answers and just wave it off saying " so what will you do" because it doesn't require immediate treatment than donating blood.

Anyways this new hematologist sent me for bone marrow biopsy, cytogenetic study, ruling out all secondary causes too, my bmb is normal so she said it's nothing probably could be a rare cause we don't know, but asked me to keep visiting the hospital with CBC reports.

Over time i developed rashes and my WBC count was rising. This time our hematologist was not there so we went to another oncologist who gave me hydroxyurea

I was shocked. Because why would you put me on pv medicine when i was negative for everything regarding pv. He scolded yeah literally shouted at me saying do you think everything fits criteria? So I asked him to suggest a test if any for further ruling out other causes. So he suggested myeloid panel NGS. Which also came negative subsequently.

Following this my old hematologist came back she said there is a methemoglobin gene which found recessive so not sure if it is causing the polycythemia but suggested we just go for phlebotomies.

Over the years i have developed intense fatigue, red hands, rash itching, Erythromelaglia, tinnitus all classic symptoms of pv.

I don't get phlebotomies regularly either i keep checking my CBC and it's been hovering in the same levels as it has 4 years ago. Hb 17.5 hct 50.4

My recent doctor now suggested hydroxyurea again. This has put me in a severe anxiety and thinking abt my life span, abt the expenses the future of this disease will take me, the cost that is needed to keep me alive, and what future should i look forward too. Also does developing symptoms mean I'm having aggressive mpn?

I don't want to take hydroxyurea i want interferons, even hydroxyurea seems not required for me because i want to start regular phlebotomy and see how my levels are..?

If possible i want to start interferons, i live in India btw, a population where you are likely to find more studies on many pv patients but no one enthusiastic enough.

I find it sad there are no mpn specialist here. I'm sorry for this long rant but I'm very clueless and lost. I've stumbled upon this group and I've seen kind people who are willing to put time than most doctors so my humble questions are

1. Do you have jak 2 negative pv. anyone who has been diagnosed with it? Please share your experiences

2. Are there chances of a full life for me, for instance any success stories of diagnosed young and living old.

I'm very scared of my future.

[Mazcd Partner MPNVoice]

hello Xuzy, I am so sorry that you have had such an awful experience, and completely understand how scared you are feeling about your future and how difficult it obviously is for you to discuss treatment options with your current haematologist. I will contact a patient advocacy organization based in India to ask them if they can offer any assistance to you with regards to finding another haematologist, once I hear back from them I will send you a private message. Best wishes, Maz

[Xuzy in reply to Mazcd]

Thank you so much Mazcd. I'm very glad for your assistance.

[Mostew]

Can't offer any advice as I have JAK2 POSITIVE. glad you find this site and do hope you find good hematologist.

Please let us know how you get on.

Warmest wishes

Carolyn

[ainslie]

sorry to hear about your troubles, if you have PV it’s essential to keep Hct below 45 at all times if male and many say 42 for female. Above that the thrombotic risk increases exponentially. The main cause of death with PV is thrombotic issues. I don’t wish to worry you more than you are already but better safe than sorry, this is basic and essential knowledge for anyone with PV and any doc should know and insist on that.It’s clear you need a good new haematologist and hopefully Maz can help with that. If possible try to see a MPN. Expert even once or twice who can diagnose you properly and set you on the right course and write or call your local Haem to keep them going in the best direction. If finding a expert is difficult in your area you might be able to consult a expert virtually, some experts do that but may want to see you the first time, maybe not.

The priority right now is (assuming you have PV) to get your Hct down probably using venisection until it’s under 45. For someone your age hydroxycarbimide is not a good idea. Most haems prefer not to use it on such young patients, even any drug at that age is maybe not ideal but you really need to discuss that with a expert.

Standing back a bit the good news is that medicine for MPN is moving faster and young people tend to do better generally, even recently Ruxolitinib was approved for PV and There is another more benign drug in phase 3 trial , so there are positives. Try and stay calm , be very persistent until you find a doctor or MPN. Expert in your country or any country that you feel comfortable with. Keep posting on here for help.

Wishing you luck 😀

[hunter5582]

Sorry to hear about your struggles with accessing MPN expert care. Unfortunately, this problem is all too common. This makes it a particular struggle for someone diagnosed quite young and negative for both types pf JAK2 mutation. 95% of people with PV have the JAK2 mutation. A very small percentage have the CALR mutation. The rest, have PV with no known mutation. If all other causes have been ruled out, then you may fall into this very rare group.

You are quite correct that hydroxyurea is not the medication of choice for someone your age. Most doctors would opt for Pegasys or Besremi (the PEGylated interferons). Unfortunately, these drugs are much more expensive and many doctors have very little experience with them. If this is the course of treatment you wish to pursue, you may have to assertively advocate for yourself.

One part of self-advocacy is to educate yourself. Here ar some resources you may find helpful.

ncbi.nlm.nih.gov/pmc/articl...

ashpublications.org/hematol...

researchgate.net/publicatio...

youtube.com/watch?v=Oc8ujrS...(Not working as expected?)

You may also find it helpful to know a bit more about the MPN-related mutations. This is an excellent presentation.

youtube.com/watch?v=zHwTIJb...(Not working as expected?)

All the best to you moving forward.

[katiewalsh]

Hi. I’m so sorry to hear about your situation. Fortunately MAZ is now going to try & help you. She’s wonderful. I just wanted to say hello & let you know you can always post comments or questions on here and get support from us. You’re part of a large group of people who care about each other. Wishing you the best of luck & sending you a supportive hug. Katie

[Hidden]

Dear Xuzy it is possible to have a wider international consultation about the issues your struggling with. Please don't give us there is plenty of work to be done and pepole on this site to help you. There is much fear for those of us with PV and ET in the early days of our diagnosis and treatment. Continue to use this website and you will find help about moving g forward. 🙏 My heart is with you and you will find the help and courage you need,lm sure of that.Stay strong buddy.

[Hidden]

I have been told I have “double negative” PV and that they probably just haven’t found the gene that is causing PV for me. I’ve been diagnosed since 2017 and until recently my only treatment was phlebotomy. My doctor prescribed Hydrea which sent me to the ER with intractable vomiting. I’ve been scheduled for a bmb

I understand your frustration and fears. Having a rare disease is very unsettling and not being able to pin down the cause just adds to the concerns. Finding a doctor you have confidence in is very important. Integrative Medicine can be a big help with symptoms. If you can find a practitioner who can advise you about nutrition and natural supplements that won’t interfere with your RX that can provide relief. Best wishes and please don’t despair. We have to become our own best advocate when we don’t get answers from the doctors.

[Confusingdisease in reply to Hidden]

do you have a low EPO is that why you have that diagnosis?

[Ovidess]

As a much older person with PV, I can really sympathize with your concerns as a young person facing these problems, and hope you can perhaps find at least a video appointment with a specialist who can advise and perhaps find a way through the financial blocks to the medicine that you prefer and which is best for you. May it all go well with you!

[Confusingdisease]

I’m in the same spot right now too. Negative for the JAK2 mutation.. I suffer from burning feet / numbness, but don’t have itching, night sweats, tinnitus, red hands, etc. not sure where to go at this point as my heam highly doubts the burning feet are related to my counts

[Xuzy in reply to Confusingdisease]

Do you live in the us?Consult an mpn specialist.

[Confusingdisease in reply to Xuzy]

do you have high red blood cells even after a phlebotomy & your hematocrit is at 45?