First I would like to thank everyone who contributes to this forum. I've only been a member for a couple of days, but already appreciate the helpful knowledge conveyed by others.
I was diagnosed with polycythemia vera in late 2021 after a blood clot in my small toe led to blood tests ( HCT 62.9, RBC 7.7, platelets 1109). Further genetic testing confirmed PV. I had multiple phlebotomies and was started on hydroxyurea but had severe reaction including dizziness, fever, difficulty breathing, and uncontrollable shaking. I ended up in the ER, with fever, gasping for air and shaking so bad they couldn't get an EKG reading for almost an hour. I was admitted for 2 days, and stopped taking HU at which point my worst symptoms improved.
I have been unable to work since then due to regular dizziness, shortness of breath, severe fatigue, hypertension, and difficulty concentrating. I was referred to a cardiologist and had a brain scan looking for other causes, but both tests showed no abnormalities. Currently only taking 81mg aspirin daily, but my hematologist wants me to start Besremi soon.
You do have a really clear answer on the HU tolerance, none at all. Anyway Besremi has advantages over HU. That is why I am on Besremi after a year + on HU. I tolerate both ok but the Bes is overall a better experience for me and it has long term benefits that HU does not.
Did you get an allele burden(AB)? This is roughly the % of your Jak 2 marrow cells that are mutated. With your HCT value, AB may be over 50% which is not unusual for PV, but only the test can say. Your Dr likely told you HCT should be under 45.
You can get AB from a blood test. You also should ask about nexgen testing which looks for other mutations. We should know our genetic results at the start as this is likely to be esp useful info for the future.
You do want to have at least AB before starting Bes since Bes will usually reduce it over time, possibly by a lot. This is a good thing even as some Drs are unsure about its value. I say lets reduce it and find out how useful that was rather than not and wish later that I had tried.
Are you and Dr getting the Besremi application started?
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On your Jak 2, you list v617f and exon 12. These are usually exclusive, v617f is known to occur on Exon 14; this is the more common mutation. Did they say you have both types?
The initial blood tests when I was diagnosed last November show allele burden is 33%, and I am positive for both JAK2 v617f & the EXON 12 mutation. My MPN specialist also thought this was unusual.
My MPN specialist advised that I start Besremi back in May, and ordered a bone marrow biopsy including cytogenetics and NGS tests. I had the BMB done locally, and when I saw my regular hematologist a month later, she could not find the results of the genetic testing. She was unsure why the remaining test results were not present and said she would check on them and call me. We discussed starting Besremi, but she wanted to speak with my specialist first.
Weeks later at my next visit with my specialist, he asked how the Besremi was working. I told him I hadn't started it because my hematologist needed to speak with him. He also said he had not received the additional BMB genetic test results. It has now been over 10 weeks and I still don't know those results. It's been 6 weeks since my last blood test, when my HCT was high and I had a phlebotomy.
So.... I have repeatedly tried to schedule an appointment with my regular hematologist, but the scheduler says there are "no orders in the system" so I cannot schedule. Supposedly a message was sent to the hematologist regarding my request, but still I wait. No information was given to me yet about applying for Besremi.
You do need to get louder, bureaucracy is not a legitimate medical treatment.
You do seem well qualified for Bes and to have decent access to your MPN Dr. Is there a reason your can't get Bes Rx directly from the MPN Dr? I see only an MPN specialist for my MPN, is that an option for you?
You are 1st I've heard of both Exon 12 and 14, your MPN Dr likely is curious too. 33% AB is not so high for PV. I'm at 19% but with a more ambiguous Dx.
The Exon 12 portion of your Jak2 could be keeping your AB lower:
<<Moreover, JAK2 exon 12 variation is generally detected at lower level than JAK2V617F.>>
Good points! I just contacted my MPN specialist to see if I can see them for regular virtual visits. They are several hours drive away, but I'm hoping they can manage my care remotely with lab tests and phlebotomy done locally. I will also seek the Besremi Rx from my specialist.
Thank you for the article on EXON 12 mutations. Hopefully my NGS results will yield further info.
If the Bes works you can hope to quit the phlbs at some point, leaving only the CBCs CMPs... But some here find the HCT moves down slower than the other counts.
You might get added attention from your MPN Dr with your unusual Jak2 mix, could be helpful as Dr could be curious. Hope it works out.
Dual driver mutations do occur but they are very rare. Very little is known about them. This makes it even more important to have your care directed by a MPN Specialist. You are correct to think that this office can be your primary care provider with labs being done remotely. Nearly all providers can work this way, doing most appointments via telemedicine, provided your are in the same state or in some cases in contiguous states where permitted.
It is ridiculous that a scheduler would refuse to help arrange an appointment when one is needed. You are highly symptomatic and follow-up is clearly indicated. I do not know if this is an issue with your insurance provider or with the hematology practice. The lack of follow up from the hematology office merits a formal complaint. I would fire that provider/practice and move on given what you described. That kind of care (the lack thereof) is unacceptable.
NGS results may take as long as 8 weeks in my experience. Hopefully the lab is just a bit backed up and the results are just late. That also merits follow-up and an explanation of when the results will be available. A certain amount of persistence may be needed.
There is no reason to wait on anything for the Besremi to be ordered. Either doctor can order it. The sooner the better. Besremi is very expensive and can take multiple efforts and appeals to get approved. You have a very clear and compelling case for Besremi approval, but approval may not be automatic. Best to get it moving of that is your intent.
It is a fundamental truth that assertive patients receive higher quality care. Passive patients do not. We have to be our own best advocates, This means being educated about our conditions and about how our healthcare systems work.
Wishing you rapid success and timely access to the care you need and deserve.
First a disclaimer- while I really am a physician assistant, in the area of MPN's, that only means that I have experience reading and understanding medical research, and have a pretty good grasp of medical terminology, because I have no hematology experience.
I have also been working in and around healthcare and medicine for 30+ years.
All that was background was just to say that EPguy and Hunter5582 are entirely correct, and it is well past the borderline of negligence for you to be left hanging because no one has taken the initiative to follow up on your work-up and treatment.
Given what you told us thus far, even with aspirin on board [and BTW, more than 81 mg/day is often recommended, even if just to decrease itching], you are at significantly increased risk for developing more thromboses as long as your Hct is >/=45%, and if you aren't being monitored and having therapeutic phlebotomy scheduled to respond to your Hct levels, it has to be assumed that it continues to be high.
God bless you and please remember, he helps those who help themselves, and often only the squeaky wheels that get greased- so speak up as loudly and as often as needed to get the care you need.
PhysAssist, thank you for your encouragement and thoughts.
I have made a decision to switch to a hematologist who is knowledgeable of MPNs and is not associated with my current provider or their practice. I had hopes that my care would be coordinated between the two, but the continued negligence of my local provider has made them an impediment to care.
De nada- I'm only here to help and be helped, and so far, it's mostly been the latter.I lucked out into being referred to a general heme/onc MD, who communicates well, even though she's not anywhere near the cutting edge, but more importantly openly stated that she would be very willing to take direction for a "super-specialist" MPN consultant, if I requested a consultation- which is still pending, because I want to go over the results of my BMB with her prior to going out west to Roswell Park where the nearest vetted MPN "super-specialist" is located,
Stay positive, stay focused [hard at times], and stay safe and healthy!
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