Hoping the new year finds you all well and looking forward to happiness and success in the coming year. Decided it was time to post an update on the ongoing saga of managing PV along with various and sundry other issues.
History - The current saga starts back in January 2018 when I had a god-awful Green Laser PVP/TURP. The docs were not very honest regarding the actual surgery and amongst other negative effects, I ended up with significant reactive thrombocytosis, which put me back on hydroxyurea for a year. This all emerged when I was in the hospital in April 2018 for what turned out to be paroxysmal atrial tachycardia. June 2018 – successful surgery for the tachycardia which was curative.
Started up with phlebotomies in July 2018 when it became clear my ET had progressed to PV. A few months later I started showing signs of toxicity (mouth ulcers, constipation) from the HU. The toxicity grew steadily worse over the next several months (thrush, leukoplakia) despite dropping the dosage steadily back to sub-therapeutic levels. I finally went to a true MPN Specialist who saw that the ET had actually progressed to PV at least 6 years ago. He was very clear that HU was not an appropriate med for me based on my profile. He also recommended that I discontinue the aspirin as I tended to bleed/bruise to much and have never had any thrombosis over the 30+ years with a MPN. He rather prophetically stated “you really do not want to get a brain bleed.” Two weeks later I was diagnosed with a hemorrhagic brain tumor. That was April 2019. I was really glad that I followed his recommendation and got off the aspirin. Aspirin is not a good thing when you have bleeding in the brain. His recommendation for me was phlebotomy-only, which is the treatment regimen I am following now.
For those who have not heard this part of the story before, the tumor turned out to be a pilocytic astrocytoma (Grade 1 tumor). This tumor is related to another genetic condition I have – Neurofibromatosis Type 1. June 2019 – another surgery – this time a craniotomy-resection. The most recent update on this as of November 2019 is that the surgery may have been curative. The tumor was negative for all 27 cancer genes tested for. The edema from the tumor and sequalae from the surgery have abated and I have recovered quite well. Due to the NF1, there is an increased risk of tumor recurrence, but we will be watching and monitoring with MRIs every three months.
Back to the PV – care. A few weeks prior to the brain surgery, the new hematologist who sees me locally called to say “we have been over-phlebotomizing you.” I was so iron deficient that they could not even measure my ferritin levels. Took the iron pills for a few weeks prior to the surgery but discontinued afterwards as the iron pills were worse than the anemia. So since June 2019 I have been monitor-only for the PV. The iron deficiency resulted in erythropenia, where normally I have erythrocytosis. The thrombocytosis continues as usual, cycling between the 500s and 700s. I am totally asymptomatic for all of the primary PV risks – no thrombosis, hemorrhage, splenomegaly, etc. The erythrocytes are gradually returning to “normal” and I will resume phlebotomy when my HGB=14 (HCT approaches 45%). We will be much more careful with the phlebotomies going forward, seeking a better balance between HCT and anemia.
I recently started seeing an Integrative Medicine specialist, who is working with me to see if we can better manage the systemic inflammation that results from the JAK2 mutation. We will be trying some different things to see if there is a way to deal better with the increased load of inflammatory cytokines and decrease their negative impact. If I find something that really helps, I will let you all know.
As if this was not all interesting enough, back in December I was diagnosed with a rather large bone mass on my mandible. At this point we do not know what it is. The maxillofacial surgeon I saw referred me on as he could not deal with it on an outpatient basis. The bone tumor is likely something benign but it is doing some damage due to its location.
So, 2020 will be another interesting year of new medical learning. I am truly fortunate in that I will be going back to Johns Hopkins for this care. The MPN specialist I consult with, the neurosurgeon who did the brain surgery, and the NF1 specialist/neurologist who follows me are all based out of Johns Hopkins. When managing multiple conditions, it really is helpful to have a comprehensive team provide your care. Not looking forward to dealing with this, but it will be what it will be, and I will deal with it as I must.
My newest medical challenge will be just one more thing to overcome. I will be working to better understand the implications of having two kinase-based genetic disorders. NF1 is a RASopathy (RAS-MAPK pathway). The JAK2+PV (JAK-STAT pathway) is a separate kinase system, but the two pathways have crosstalk and impact each other. The interactions are quite complex and none of the docs I consult with really understand how it all works and what the implications are (no one does). I can’t help but to think that this has something to do with the issues I have been dealing with. However, the data base of people with my profile is vanishingly small. Rate of occurrence for all MPNs = 1/300,000 – NF1 = 1/3,000 – adult pilocytic astrocytoma = 1/60,000. Put that all together – there is only a small handful of similar cases. I love being unique, but no so much in this way!
All in all, I consider myself blessed. I have wonderful support from family, friends, faith community, medical professionals, and the members of this MPN forum. I have learned a lot in the last couple of years about the importance of creating a support network for yourself, educating yourself, and taking a strong assertive stance in managing your own medical care. 2020 looks to be an interesting year. I would have preferred something more boring – but oh well, so it goes.
Thanks to all who took the time to read this rather length tale. Thanks to all of my MPN brothers and sisters for your support throughout all of this. We are truly stronger together. All the best to all of you all.
PV Haematologist Discussion**UPDATE**
Diagnosis update - PV - in limbo 
UPDATE: FIRST HAEMO APPOINTMENT. NO PV. 
