Just a mini-update. More good news to report. I saw my local hematologist today and have an updated CBC. HCT=44.8%, HGB=14.7, RBC=5.63. I remain at target on 175mcg Besremi. NEUT=1.44 (low), LYMPH=0.51 (low), WBC=2.52 (low). I am still mildly leukopenic but the range is acceptable.
The plan I have made with my MPN Care team is that we will monitor at 8-week intervals. if my HCT goes above 45% and stays there, i will either do one of two things: 1. Increase Besremi to 200mcg if NEUT/LYMPH levels are acceptable, or 2. Do a therapeutic phlebotomy if the leukocytes are looking to low to risk a dose increase. Either plan is Ok with both docs, so I will decide which option to use in collaboration with my docs if the occasion arises.
As you may recall, my daughter (AKA Fluffylittle) is diagnosed with a JAK2 positive ET. She is currently doing well. My son was also seen at our local hematologist today. He sees the same doc I do and usually asks me to come to his hemo appointment. He has what presents as an idiopathic erythrocytosis. He is JAk2 negative but has HCT as high as 54.9%. There is no diagnosed cause for the erythrocytosis. He has a heart condition but his cardiologist states that it would not cause the erythrocytosis, so it is a mystery. He is having a more sophisticated JAK2 NGS study done that will look for a possible noncanonical JAK2 mutation. He will also be consulting a pulmonologist to see if the cardiology issues that involve the pulmonic valve is responsible. While it may in fact be a secondary polycythemia, in the context of two first-degree relatives with the JAK2 mutation, we are going to check out all possible variations of a PV diagnosis.
We are still waiting to hear back from the research study on Familial MPNs at Johns Hopkins. This looks like it would be very interesting, looking at the possible role of telomere dysfunction in the genesis of acquiring the JAK2 mutation. Telomere shortening is known to lay a role in other cancers so it makes sense to look at this possibility. The three of us along with my brother, who had a Non-Hodgkin's B-Cell lymphoma, will all likely participate. We are looking forward to learning more.
Wishing all of you all success on your MPN journeys.
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hunter5582
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Sending positive vibes and pray for your family. Hoping everyone weathers this storm. I believe one day, we will solve the mystery that causes all this. Thanks for taking time to update us!
Thanks for sharing Hunter. I was wondering if your son is taking a SGLT2 inhibitor for his heart condition. I am asking because this class of drugs stimulates erythropoietin and increases Hgb / Hct, especially when predisposed.
Good question. No he is not. He is taking no medications that would increase erythropoiesis. He is awaiting heart valve replacement for the pulmonic valve that was removed at age 6 months due to a heart defect. He is now 42. His O2 levels stay WNL and there is no apparent reason that the heart problem would induce hypoxia and trigger the release of EPO per his cardiologist. The local hematologist is still thinking secondary polycythemia despite what the cardiologist thinks. While this seems possible, I would not rule out an undetected JAK2 mutation variant given that his sister and I are both JAK2 positive with a diagnosed MPN.
I would like to see the cause of the erythrocytosis determined before he has to have the heart valve replaced, which may need to be an open heart procedure in his case. It will be necessary to go through a process of elimination to make the determination. We are going to do some more assessments locally then go to Johns Hopkins for further assessment as needed.
We will get this sorted out, but it will take persistence.
As ever,thank you for sharing Hunter. I thought the Jac2mutation was non hereditary so I will mention that this is not so to my children. Delighted you are well. Xx
The JAK2 mutation is an acquired somatic mutation, not a germline mutation. It is often acquired in early childhood but takes decades to manifest as a MPN. Some have the JAK2 mutation without having a MPN, known as Clonal hematopoiesis of Indeterminate Potential (CHIP). It is known that MPNs can cluster in families along with other blood cancers. It is thought that there is a predisposition to acquiring the JAK2 mutation due to an inheritable JAK2 46/1 (GGCC) MPN-predisposing haplotype. The study at Johns Hopkins will be building on some existing research into the role that telomere dysfunction may play in the Familial MPN phenomenon. Very interesting topic. hopefully we will learn more.
The answer to the question is complex and likely involves a variety of factors. The theoretical predisposition to acquiring the JAK2 mutation due to the JAK2 haplotype is only part of the story.
Here is a bit of what is available looking at multiple driver mutations.
The study we may be participating in will be looking at another potential mechanism. This will be looking at the potential role of telomere dysfunction in familial MPNs. This is an example of prior research.
I would hypothesize the the predisposition to acquiring MPNs is multidetermined. it takes more than one factor for the driver mutation to be acquired. Some of the factors for JAK2, CALR, and MPL may or may not be the same. I suspect that some, but not all, are the same. It seems clear that the pattern of inheritance is not autosomal dominant like we see with other disorders. There more likely needs to be a cluster of genetic and environmental factors for the predisposition to be inherited and then for the mutation to be acquired. Adding additional complexity, the driver mutation can be acquired without the MPN disease process being manifested (e.g., CHIP). Understanding what triggers the MPN to manifest is another factor we need to better understand. We can hope that a deeper understanding of the epigenetics of MPNs could lead to curative or preventative approaches.
That's really good news that your blood counts are looking "so normal". Well done, you have worked so hard to get to this point. But I am sorry to hear about your family's health problems. It's fortunate that you are so knowledgeable about MPNs and blood diseases to help them, I sometimes wish you were my doctor. Your family must be so interesting to the medical researchers so thank you to Hunter's family for sharing their medical histories, because I think we have all been told at diagnosis that MPNs and Jac2 mutation is not genetic.
We do seem to be interesting family vis-a-vis our medical histories. We also have Neurofibromatosis Type 1, which is an inheritable condition. While it is a separate condition, NF1 is also a non-driver mutation for MPNs. I told my care team that my goal is to be "The World's Most Boring Patient." I was told "The ship has already sailed on that goal." Sigh.😔
Pleased to hear your condition is good at the moment but sorry to hear of your son’s problem. The familial link is very interesting and it will be good to know what the study reveals . Sending good wishes for you and your family and thank you for sharing this information.
I'm sorry for your family's troubles. I found it interesting in my own case where half my brain was fascinated with the physical mechanics of my disease at the same time as the other half was verging on the edge of panic that this was actually a bad thing.
We are all different in how we deal with the stressors involved in managing a MPN. One approach is not right for everyone. I find that empowerment in managing my health is essential to my mental wellbeing. Knowledge is power. The better I understand MPNs or any other health condition, the better I can manage my care. I find it reassuring to understand all of the decisions I make in collaboration with my care team. I have had a number of unique health learning opportunities. It is far better and less scary to approach them with knowledge than ignorance.
That is what works for me. Wishing you the optimal path to peace and success on your journey.
Thank you for your update Hunter and good. Red for you. Good vibes sent to your family members that all goes well moving forward.
As gilded said we learn so much from your posts. Thank you always for your input and feedback.
Fascinating to read the familial links. (Once my HAK2 PV diagnosis came i. I advised my twin to get himself checked for some similar symptoms to mine he was going thru at the time. Lucky guy is clear….).
Thanks as ever for sharing your knowledge and fascinating information regarding your family too with possible familial links to MPNs. It makes me think as my brother, who was 5 years older than me, was born with a malformed aortic valve and as this was 52 years ago they were unable to operate until he reached adulthood. Sadly he passed away from a heart attack at just 10 and my mother, had had a blood clot on her leg, and then died recently from pulmonary emboli. I often wondered over the years if their deaths were related to an MPN, as I have ET, and I recently had our two children's blood checked for high platelets but nothing unusual so far. It's hard not to worry when you have something so rare that few people know much about. It is wonderful that you are so knowledgeable and able to share your medical expertise to get to the bottom of your children's and brother's diagnoses and that you are all partaking in the Johns Hopkins Familial MPN study - thank you. Please keep us updated on how it goes and best wishes to you and all the family on your journeys and thank you for sharing them.
thank you for again adding so much to my understanding of MPN and how to live with it. Reading about what you have achieved is inspiring. Sending along best wishes for continued positive treatment results and blazing a new trail for family MPN. Your efforts are greatly appreciated. Stay safe!
So glad you are doing well! Hopefully they will figure out what’s going on with your son’s issue soon. My daughter will need to have some genetic testing when she gets older with me having two weird things and seeming to be an anomaly on both sides of the family,(lucky me). I bet when she gets old enough they are going to have even better genetic tests. Keep us posted!
Glad to hear the Besremi is working well for you, Hunter.
I'm very interested in the familial MPN aspect. I was diagnosed with PV 4 years ago -- high platelets, high RBCs/hematocrit, and JAK2 positive. A paternal great-uncle passed away in the 1970's from myelofibrosis -- limited treatments at that time. A deceased cousin of my father had PV. My own father, now in his late 80's, appears to have idiopathic erythrocytosis like your son -- JAK2 negative, but has been going for phlebotomies every 2-3 months for the last 20 years due to high hematocrit levels. WBCs and platelets are always normal and stable. I'm going to attend his next hematologist appointment for the first time to ask some more questions about his situation. The hematologist has told my parents that my father does not have PV, but he doesn't know what is causing the erythrocytosis. One thing I'll ask is if an NGS test can be done. It would be good to know I think for family medical history.
There are other tests, but not all hematologists are aware of them. I identified this test and verified with my MPN Specialist that it was an appropriate option.
In the absence of a family history of MPNs, I would think a secondary polycythemia is more likely for both my son and your father; however, with a known Familial MPN cluster, I think it makes sense to do more sensitive testing for the presence of the JAK2 mutation when someone presents with idiopathic erythrocytosis. It may also be that further testing is warranted, possible a bone marrow biopsy or checking for additional myeloid mutations. We are going to take the assessment for my son one step at a time.
Wishing you success in finding the cause of your father's erythrocytosis.
I have been injecting 75mcg of Besremi for about 2months now and every so often as I pull the needle out of my skin(following instructions closely) I notice a small amount of liquid escapes onto my skin. My husband and I are both concerned that because of such a low dose I may not be receiving the amount of medicine that is needed. Has anyone out there had a similar problem with Besremi? I would appreciate your input. I intend to mention this with my care team as well. I did once mention this to PharmaEssentia and they did not have an answer. Thanks!
Out of curiosity, do you keep the needle in for a short time after pushing the plunger all the way in? I was instructed to count to 5 before I pull the needle out, and I *think* that was the reason why I was told to do it that way.
Yes, in fact I keep it in the injection site for about a half minute. The last two times everything went well. This most recent injection there was liquid that seeped out after pulling needle out. Thanks for your input.
Yes, I have had that happen too. This can be prevented by leaving the needle in for about 3 seconds after depressing the plunger. I also release the pinched skin prior to removing the needle. These two steps eliminated any backflow of the medication.
I had this issue too. However, I figured out the problem. There is a little cup around base of the Besremi needle. When I discarded the excess fluid, some made its way into that cup. When I turned the syringe over to inject, some of that excess that remained in the cup leaked onto my skin. For a while I was wondering if I was getting the full dose. My blood counts reflected that I was getting the medication. It took a while to figure this out. Now, I take a tiny piece of paper and soak up any excess in that cup but it's not necessary.
Thank you Hunter for sharing your journey with us and also your family's. Your posts are always so interesting. All the best to all of you in the future.
dear hunter I am sorry to hear your daughter has E T also It is something that I worry about. My younger daughter. 33. Is very much like me and Has some women bleeding problems. Is it. Hereditary do you know. Best regards. Instow1
It is thought that the predisposition to acquiring the JAK2 and other driver mutations may be hereditary but that actually acquiring it not. There are also environmental factors that likely play a role as we see with the Pennsylvania cluster of PV cases. It seems likely that there is an array of factors, including genetic and environmental, that lead to both the acquiring the somatic driver mutation and then later having this mutation progress into a MPN disease state. The epigenetics of MPNs is complex and we need to learn more before we can draw more firm conclusions.
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