Jak2 Detected, Healthy otherwise, What's next?

My doctor has attributed my historically borderline high blood count to Obstructive Sleep Apnea (OSA) and has been recommending the use of a CPAP device.

Welcome to Connect, @lostmonk.

High/borderline hemoglobin and hematocrit sometimes can be attributed to asleep apnea or other medical conditions which bring about a lack of oxygen to the body.

So your doctor may not have been in error with that diagnosis but there are tests which can be done to make sure that’s the case and not something underlying going on. In your case, the culprit is most likely the mutation to the JAK2 gene.

To answer your question about this being a false positive…probably not. Polycythemia is a chronic disease that can take years to develop and progress.

I know this sounds scary but if I can be of any reassurance to you, most people with PV get along just fine with treatments. Because there’s an overproduction of red blood cells in your body it can cause some issues. So a basic treatment is to have a phlebotomy where a technician removes a designated amount of blood to bring your level down to a normal range. If this isn’t enough to do the job, there are medications which can be given to help your body control the over production of the cells.

I’m going to put a couple of links in this reply for you to check out online. These are good, informational articles which explain how Polycythemia Vera develops and potential treatments.

From Verywellhealth: https://www.verywellhealth.com/polycythemia-vera-disorder-overview-2252550

Healthline: https://www.healthline.com/health/polycythemia-vera

We have quite a few members such as @jerrlin, @cindy316 @inevanmac, @albertedward and many others in the forum who also have PV and are here to answer any questions you might have.

Here are a couple of current discussions you might find helpful:
JAK2 Mutation: Effects and Questions
https://connect.mayoclinic.org/discussion/jak2-mutation-effects-and-questions/
With members @chadknudson @ettap @sregiani @mags17

~~~~~
~Polycythaemia Ruba Vera, Jak2 mutation & link to Sleep Apnea

https://connect.mayoclinic.org/discussion/polycythaemia-ruba-vera-jak2-mutation-link-to-sleep-apnea/ @mags17

Your next step should be getting an appointment with a hematologist. This is a doctor who specializes in blood disorders. And yes, a bone marrow biopsy might be ordered. This allows a sample of tissue right from blood manufacture site in the body and can give your doctor an overall picture of the health of your bone marrow and its ability to produce healthy blood products. It sounds much worse than it is.
This is not the end of your happy life. ☺️
The good news is maybe you won’t need the CPAP device.

Will you let me know what you find out from the hematologist? Do you have an appointment set?

Thanks Lori. This is very comforting and helpful guidance. I have got tomorrow’s appointment with Hematologist. I will keep you all posted.

Thank you Lori.
I think there is a misunderstanding here, you appear to have misunderstood me with regard to my diagnosis as if I was attributing mycondition to sleep Apnea alone! NO I did emphasise in my post that blood test CONFIRMED Polycythaemia Ruba Vera with a Jak 2 mutation, full stop.
Although not confirmed that I also suffer from sleep Apnea as I hadn't had it monitored & havn't yet got around to doing so, I can only conclude that Sleep Apnea may have escalated the & triggered off the PV condition which had been working away inside my blood stream for decades. This I linked to my experience of not having to take any medication or venesection for 2 months earlier this year when all my blood readings were within the normal range. Bruised muscle which I had didn't permit me to lie down normally in my bed, the sitting up position during sleep resulted in normal breathing during sleep, consequently I didn't wake during the night with dry mouth from snoring with an open mouth! & felt perfectly rested each morning.
This was hardly coincidental that I got relief for a couple of months during normal breathing during sleep!

When I read this reply today, I became very depressed again when I read your description of Polycythaemia to be a Chronic condition. Yes blood cancer is blood cancer no doubt, but at the same time, the fact that Polycythaemia can be controlled with venesection & medication & from various articles I read about it, people can go o to live normal lives + doesn't always cut short the lifespan of most? People. Now I feel an invalid again! chronic has put me back on my box. I hadn't been going out & about, I went to Church to try to get back into a normal routine, felt a bit lightheaded, didn't go back until last week & again yesterday. I felt confident I was fighting my lack of confidence. I begun to attend the opening receptions in our local art galleries, coffee with friends, thought I have to get in with life, now after reading the word 'chronic' describing Polycythaemia, I just feel what is the point in trying to put such a chronic condition into the backround & try to ignore it as if I just had a minor treatable disease.
I just don't know. Take to the bed I suppose & wait until I'm called from this life.
I have a relation a surgeon who explained to me that a lot of people who were living in high altitudes suffered from this condition & their only means of treatment was venesection prior to Pharma produced meds which came on market later. Venesection is so safe with no side effects. At least a lot of them seemed to get by.

Thank you for the links which I will go through when I am in a better frame of mind.
I forgot to mention that I am on warfarin for blood clot prevention for almost 3 years, as had clot in my leg. The duration of warfarin intake was for 6 months .Then a couple of months later I developed clot in lung . Blood test was carried out in A&E for Polycythaemia due to this lung clot. I was Polycythaemia positive.
I did ask my Consultant if it was necessary to be taking warfarin & hydrea concurrently when it evidently was the PV kicking in which led to both blood clots I assume. He didn't give me a direct answer as to whether I should be taking warfarin medication when the main culprit was Polycythaemia, & am on Hydrea as well!! Two different lots of medication for a confirmed Polycythaemia condition. The mind boggles, to be honest & am receiving side effects from both medications.

Hi @mags17 I’m sorry if there was some confusion but my reply was written to @lostmonk regarding their recent diagnosis of PV. They had also mentioned the possibility of having sleep apnea as a correlation.

As we do in Connect to bring other members together who have common experiences, I tagged you, along with others, because of previous discussions where you mentioned that you had PV, the JAK2 mutation. We also talked about sleep apnea being a possible cause of increased red blood count and hematocrit. So I provided those informational links to @lostmonk so that they would have some idea of what is taking place when they go to see the hematologist tomorrow by reading conversations with other members. I never meant to imply anything about your health nor did I misunderstand your conversations.

I’m really saddened if I brought you any undue stress regarding your health. My use of the word Chronic wasn’t meant in any way to be negative or to even describe your personal situation. It simply is a description of a condition that is ongoing. It doesn’t mean a condition is fatal. It just means ongoing. There are millions of people with chronic conditions like dandruff or ingrown toenails, autoimmune disease…the list goes on. So I feel horrible if you are now feeling like an invalid for something I said!

My gosh, I’m the last person to ever want anyone to not feel positive about life and going forward. I have had a very serious and aggressive blood cancer that I’ve overcome, so I know what it’s like to live with a possible specter over my shoulder.

To be honest, it never bothers me!!! I refuse to live in the world of ‘what ifs’ because I did that for too many years in my earlier life. Always worried about ‘what if the worst happened’, without even knowing what the worst is! It was a nebulous, vile thing I cooked up in my imagination with self talk. Having faced ‘the worst’…my fate, head-on and survived I now own the feeling of invincibility and possess a super power of always being positive. So I’m gutted to feel that I’ve somehow turned your life upside down with a reply I made for someone else.

Your surgeon friend is right, people with PV can live long and healthy lives with treatment. It’s certainly not something anyone chooses to happen, but life hands us things we don’t expect sometimes. We have to meet it head on from that point and always look forward. So please, focus on what your life was like this morning before you read my reply. Grab your self confidence from where you tossed it aside today and get back out in public, go to church, visit art galleries and have lunch with friends and family! Every day is a gift and it’s simply a sin to waste one moment of it worrying! ☺️

Good morning, @lostmonk! I know you meet with a new doctor today. That’s always a little nervy when you don’t know what to expect. Just be make sure you jot down, in advance, anything you’d like to ask the doctor. If you’re like me I have all these things to say or ask but totally blank out when it comes time to say anything. Having notes helps keep the conversation on task.

Good luck today and don’t forget to exhale with that breath your holding! ☺️
Do you have any specific questions?

Hi Lori
Thank you. I intended to reply to you earlier, am very tired, very early start this am, so will get back to you Many thanks for your help.

Hello Everyone, Met with Hematologist today. Expectedly so, based on Jak2 detection and blood counts level, doctor has officially stamped diagnosis for PV. Further blood tests, spleen ultrasound and bone marrow biopsy are ordered and will be scheduled over next couple of weeks. I am holding strong and hoping for the best while prepared to tackle it bravely whatever way it comes. Thank you all for your support and guidance.

Hi, I was just reading your thread and feel your anxiety. I was recently diagnosed with PV in January. I just turned 57 this summer and am a fit and healthy person so this was a shocker! Long story short, it took about 6 months to get the hydroxyurea dose right and I get phlebotomies about every 8-9 weeks. My numbers are good now and I’m hoping we got it under control. I wanted to let you know that it’s completely up to you to do the bone marrow biopsy. PV can be diagnosed with it. Your treatment will be the same with or without it .a My hemo/oncologist said
Unless there was a sign of something else, he was comfortable sparing me the bone marrow test. Please just do your research and you can make an informed decision. Some people need to have it for their own piece of mind and final confirmation of the disease and it is what ever makes YOU comfortable. Best of luck and things will get easier…

I meant PV can be positively diagnosed WITHOUT a bone biopsy. Sorry for the typo above 😉