I have not yet been diagnosed with ET but platelets increasing over last 3 years now over 600 x 10 to the 9th. I am JAK2 positive. Started myself on low dose aspirin which was later okayed by my family doctor. Waiting for hematology appointment. Father had ET and his brother PV so seems likely that is the cause of my elevated plts.
My question is whether all over body pain at night (muscles not joints) is a symptom? My C reactive protein is not elevated therefore not likely an inflammatory condition. When I am up and about I have almost none of the nighttime pain.
Thank you.
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The short answer is likely "yes." The JAK2 mutation causes the body to overproduce inflammatory cytokines which can cause a host of issues with systemic inflammation. This is the source of many of the secondary symptoms people with MPNs experience.
It sounds like you are waiting to determine whether you have ET or PV? It is not always clear, particularly early on. There is also the "Masked PV" that can look like ET on presentation.
Hope you and your care team get it figured out ASAP. DO be aware that not all hematologists have the skill set to provide optimal diagnosis and treatment. Be sure to consult with a MPN Specialist. Here is a list mpnforum.com/list-hem./
Hi hunter, Thanks for replying. Unfortunately I live on the large island off the west coast of Canada (Vancouver Island) in a smallish community with no hematologist at all. I will ask the haematologist I am scheduled to see (via Zoom) in October if he is comfortable with diagnosing and treating, if necessary, MPNs. I discovered, somewhat inadvertently that I was JAK2 positive on autosomal dna data from 23andme and confirmed with another sample from Ancestry run through Promethease. I have been in communication with a Dr. Logan in the UK who mentioned that it was likely to be a true positive (23andme tests on saliva). I have been putting up with the aches for a couple of years, somewhat relieved by gabapentin at hs. I am glad to have discovered this forum. Lauren
I would say that confirmation is likely, but a necessary step. You will also want to know what your JAK2 Mutant Allele Burden is.
Suggest being very specific in what you ask the hematologist. How many MPN patients have you treated? What specific training and expertise do you have regarding MPNs? Most hematologists have little or no experience with MPNs and just do not have the KSAs to provide optimal treatment.
There are actually three MPN-epxert docs reoccmended by MPN patients in Vancouver. Here is a link to finding them. mpnforum.com/list-hem./ ..
The generalized aches and pains you describe are very common with MPNs. Often linked to the overproduction of inflammatory cytokines caused by the JAK2 mutation. Systemic inflammation is a real thing. I experience: osteoarthritis, plantar fascitis, GERD, insomnia, eczema and more. Inflammation if not out friend. I am pursuing some complimentary health approaches with some success. I consult with an Integrative Medicine doc as past of my treatment team.
Hi hunter, Well it is more complicated than I have noted. You raise excellent points as the hematologist I will see has also seen my brother who is also (again because I ran his raw Ancestry data through Promethease) JAK2 positive. He has had an unexplained mild anaemia for several years and that hematologist has not investigated him for possible MF (I did relay the information from Promethease and I am a physician myself albeit just a psychiatrist, but I can read studies). Now my brother has a different haematologist/oncologist because he has bowel cancer and at 63 yo this is his third cancer, my father had ET, bowel cancer and lung cancer and my niece has had 3 neoplasms (oligodendroglioma, pituitary adenoma, desmoid). Brother and his daughter now referred to a familial cancer research team. I hope that they will follow up on the JAK2 connection (due to the association of JAK2 abnormality and multiple cancer diagnoses) and do the quantitative testing.
I will indeed ask the questions that you suggest. I took a look at the MPN symptom questionnaire and so far I have few of the symptoms, though I lost about 2 stone (in UK terms) last year without trying and do have early satiety occasional night sweats and numbness/tingling, particularly with cold and one small peripheral thrombosis in a hand vein after an iv (this was after my 5th screening colonoscopy and never occurred before).
You have a lot of symptoms, when/what was your diagnosis? Is the eczema onset only after your MPN dx? Is your osteoarthritis independent of 'overuse arthritis' so often blamed for individual joint disease?
I would love to hear about your complementary treatment experiences.
I do have osteoarthritis in many joints in my body confirmed by a rheumetologist by x-ray. Worse in the hands and feet, but present in knew and shoulder too. Knees and shoulder are exacerbated by injuries and meniscectomy. Also have calcific tendonitis in the shoulder and spinal deterioration - lumbar, thoracic and neck. Certainly there is age related wear and tear. I am after all 65 years old. However, I am firmly convinced that the systemic inflammation coming from the JAK2 mutation is a real and significant issue. All of the current thinking regarding MPNs now include the fact they are at the core inflammatory disorders.
You are fortunate in that being a medical professional you have a solid foundation in biochemistry, cell biology, genetics, physiology, and proteomics. All of this is necessary to truly understand the consequences of the JAK2 mutation. The kinase systems are quite complex and ubiquitous in what they do in our bodies. The JAK-STAT pathway does way more than drive hematopoeisis. It is also involved in immune responce, inflammatory cytokine and hormone production and more. Deregulation of JAK-STAT increases tumorigeneses and interferes with apoptosis. My own situation is more complex in that I also have Neurofibromatosis Type 1, which is of course a RASopathy. The RAS-MAPK pathway is downstream from JAK-STAT and unfortunately, the NF1 gene that is in my case impacted (down-regulated) is an important tumor suppressor gene and part of what modulates the impact of JAK-STAT up-regulation. There is a lot of information on JAK-STAT in the professional literature. I am confident you will find the information you need on this as you need to.
Regarding the family members with MPNs, Familial MPNs are a real thing too. The current thinking is that there is a JAK2 haplotype that predisposes us to acquire the JAK2v617f mutation. My daughter is also JAK2+ (currently ET, but likely PV). We are participating in Dr. Angela Fleishman's familial MPN study. My duaghter also has NF1. Have a brother who recently underwent treatment (successful) for a high-grade non-Hodgkin B-cell lymphoma, which is known to be associated with NF1 (which he also has).
Regarding the eczema, it has become worse as I have aged/MPN has progressed. I was actually diagnosed with ET over 30 years ago. It "progressed" to PV about 7 years ago. Suspect it may have been masked PV all along. My eczema is not chronic, but is a very reactive form. I have known triggers that I now avoid. I have almost eliminated outbreaks by maintaining a healthy skin moisture barrier with ceramide based cleansers and cream. I also use Eucrisa to manage outbreaks as soon as they begin. It is amazingly effective.
Regarding complimentary health for inflammation, I currently use: Curcumin (a bioavailable form), SPM Active (a fish oil derivative w/ concentrated anti-inflammatory agents), and L-Glutathione. This is done under the direction of an Integrative Medicine specialist. My fabulous PCP does not know much about complimentary health agents and recommended her. She is great. I also take methyl-B complex for severe Vit B/Folate deficiency and Magnesium for that deficiency. I have shifted my diet into Mediterranean style, with emphasis on flavinoids and anti-inflammatory foods. Also decreased meats and increased plant-based foods. Finally, I practice Qigong in various forms. ALl of the above does really help.
Looking at your symptom list certainly appears to be classic MPN Presentation. Given your family history, and JAK2 positive status, it seems certain. The only thing I can suggest is to be aware of what masked PV is and have that discussion with the MPN Specialist if needed.
You give me more credit in the knowledge department. I am 65 too and went to medical school in the 1980's when cytochemistry research was booming but little translated into basic medical education. I also had to look up KSA as I had never come across that term before. You are far more advanced in your understanding of these pathways. Is your expertise in a personal or professional capacity?
You seem to have been handed a world of difficult health issues. I wonder if you also have the genetic folate metabolism defect/s? My brother and I both have the homozygous MTHFR (C677T ) defect so we supplement with extra 5-Methyltetrahydrofolate form along with a B complex that includes the methyl form of cobalamin. This information also from running raw dna data through Promethease. Brother now has normal MCV as it was elevated and unresponsive to B12, he is still anaemic though iron stores are normal and he is several weeks post op from laparascopic R Hemicolectomy.
Thanks for mentioning Eucrisa. My brother also has eczema (since infancy) and often has to resort to topical steroids when his hands flare which has had an impact on his skin as I guess you are aware. Eucrisa was only okayed by Health Canada in 2018 so his PCP may not be that familiar with it and my brother probably doesn't bother to mention it in the midst of all his other things.
It is very forward thinking that your primary doctor is willing to refer to integrative medicine practitioner and that your health maintenance efforts are paying off. Being active is so important, something I need to take to heart, though taking care of two puppies and living alone on over 3/4 acre seems to get me off my feet, despite needing a good 10 hours of sleep per night. I can't blame that on anything as I come from a family of dedicated long-sleepers. That made on-call particularly onerous and odious too.
My knowledge is mostly self-taught as my professional background is a MA in Clinical Psychology. Was on my way to a PhD in clinical neuro-psychology, but life sidetracked me. What I did learn way back in the 70s was how to review and evaluate research. Along with a basic understanding of physiology, and more background in neurology, knowing how to research has been very helpful. I have had to do a lot of supplementary reading to understand much of what I read. I am slowly trying to build a more solid foundation so I can grasp what I need to understand to make good decisions.
Understanding the impact of two kinase-based disorders (JAK-STAT and RAS-MAPK) with cross-talk between the two and one being downstream from the other has been a challenge. I have asked some really fabulous docs on my team about this and they all say the same thing "That is a really god question" and "I don't know." What is known for sure is the JAK2 + NF1 mutation = increased risk for leukemia.
The Integrative Med doc mentioned the MTHFR mutation, but we did not test for it. I did do the 23&Me test and it did not flag there. Not medical grade testing of course, but did not opt to pay for a NGS to look for yet another mutation. I suspect the Vit B/Folate deficiency is related to my long-term use of Nexium and/or the apparent damage the hydroxyurea did to my intestinal endothelium. Will likely never know. I just take the supplement, which has addressed the deficiency. Also need to take Magnesium and Vit D. the Vit D is deficiency is known to be associated with NF1. Nutrition is a critical element of many disorders and is often overlooked. Integrative Med doc are great about paying attention to that sort of thing.
I have the exact opposite sleep issue - chronic insomnia. I rarely sleep more than 6 hours and never without interruption. The only thing that has ever helped is Belsomra. It is the only thing that helps with the sleep without disrupting sleep architecture. Ambien was a terrible med in that it was sedating, but did not produce quality sleep. I am very firmly convinced that the insomnia is related to the deregulation of the kinase systems, likely due to increased cytokine production. I am am familiar with Cognitive Behavior interventions for insomnia and good sleep hygiene, but in my case they do not really help. I know that what I experience is biochemical. Wish it was not so, but it is what it is.
I hope your brother is able to try the Eucrisa. It has made a huge difference for me. When I catch an outbreak early, it stops it dead in its tracks. Larger outbreaks don't occur much anymore with the regimen I maintain, but when they did, the Eucrisa worked great.
Again you have introduced me to a medication that I had not heard of, Belsomra. I did not know that they approved it last year. I knew that they would be targetting the orexin/hypocretin system to make a drug that one hopes doesn't produce tolerance. I did not know they had patented one, good to know it works. Of course one can get psychologically dependent on something that works. Insomia is very debilitating and CBT doesn't work for everyone (many). I mainly saw teens for the last several years of my psychiatric practice (retired middle of last year) and it doesn't work for them at all, I could recite the sleep hygeine 'rules' in my sleep but didn't do much good.
A few years ago I did a routine blood test on a girl who came with depression, about 12 or 13 yo. Came back with seriously elevated platelets with moderate elevation of RBCs so I insisted her referring doctor refer her to a hematologist and was copied on subsequent lab tests, she was JAK2 positive. I did not get to ask about family history and never saw her again as she associated me with her diagnosis of PV.
My uncle with PV was a colonel in the Canadian air force and died age 62 in about 1982, which is when I had just finished my BSc majoring in animal neurophysiology with a minor in neuropsych. He had told me lots about his illness as he had seen specialists all over the world and had an inquiring mind. They did wonder about exposure to cosmic radiation from all his flying. When my dad was diagnosed with ET a few years later, the penny dropped that they were the same disease, as it was only a theory that all blood cellular elements came from one pluripotential progenitor cell in the marrow. And it was obvious, to me anyway, that there was most likely a genetic link as it would be awfully rare for two sibs who had been raised and lived on different continents from when my dad was 13 to have developed the same illness because of environmental exposure. We have epigenetics to thank for the fact that there are not more familial cases, Lamark would be happy.
Since you have done 23andme, you could, if you were curious about MTHFR take your raw data and put it through Promethease, the cost would be about 13 Eu. It analyses whatever SNPs that particular chip tested for and links it to SNPedia. Hours of fun! The interface is not that friendly and of course, you can have all sorts of genes that are not happy ones, but again, they might not be expressed so you can take it all with a large helping of salt.
It is a rainy day today and though it is tempting to dig into some of the literature on the JAK-STAT and other things, instead I have to pack and prepare to take a trip to the south of Vancouver Island for my nephew's wedding on Saturday. It is a little nerve wracking to think of going to an event, albeit outside, with 40 odd people many of them young. We did very well with 'flattening the curve' but now our numbers are spiking. Not so much on the Island but there will be several guest from areas with much higher case counts. I worry mainly about my brother and his daughter who both had bowel operations this year. My niece had a Whipple procedure and a right hemicolectomy becasue of a sizable intraabdominal desmoid tumour.
Belsomra is the only sleep med I have ever taken that actually worked without problems. I am not fond of long-term meds for insomnia, but also do not really have a choice. I remain firmly convinced that it is related to the JAK2 mutation and the impact on the JAK-STAT pathway. Add to that the impact of the NF1 mutation on the RAK-MAPK pathway and I get a double whammy in the sleep department.
Diagnosis of a MPN in the early teens is a tough one. There are a few teens on the MPN forum, one of whom I have become friends with. This young man is quite resilient and is dealing with some significant concurrence as well. He is lucky to have a very supportive family.
The evidence for familial MPN is quite good at this point. It certainly makes sense that a JAK2 haplotype could predispose family members to acquire the mutation. I expect there could be a wide range of triggers that target the vulnerable area in the genes.
Do look into the literature on the JAK-STAT pathway and how the JAK2 mutation affects it. It helps to inform decision making when you can at least grasp the basics. The ability of JAK2 mutated hemapoietic stem cells to self-phosphorylate is the key to understanding myeloproliferation.
The curcumin blend I take contains CurcuWin, which is the proprietary blend my Integrative Medicine doc recommends. She had a more expensive form available, but I found it at my local WalMart - Spring Valley brand. I take 550mg/bid. I may at some point try boron, but am already taking SPM Active and L-Glutathione. My CRP is also WNL; however, that is only one indicator of inflammation. There is ESR and other indicators as well. I do have elevated TF Growth Factor Beta. Getting ready to run a cytokine panel to see what else is elevated. TNF-a is a likely candidate - often associated with MPNs. Some of the Interleukens as well. That is not standard clinical practice (yet) for MPNs, but my Integrative Med doc is willing to order it as she does think systemic inflammation is a part of the picture.
I will look at the 23&Me data again when i have time. I know it is not "medical grade" data, but it does point the way on some things. No matter what the cause, I know I need to continue with the Methyl B complex supplement.
I hope you enjoy the wedding. Stay well and stay safe.
Hi, I had assumed that you were in the UK but your local Walmart tells me that you are perhaps a bit closer. There are various ways of making curcumin more bioavailable and the other curcuminoids are important too. I will look into what makes CurcuWin special.
23andme will report things but not in depth. In fact in Canada we were not permitted to get the health reports even after they were reinstated in the US. That is what prompted me to go to a third party anaysis and at that time Promethease was only 5 USD.
There is no lab here that will do an ESR as it is so nonspecific and I understand it is fiddly. When I worked in NZ we had to do some of our own lab work at night as the lab staff went home. So I have done ESRs, blood cell panels, and microscopic analysis of urine and stuff like that. I also worked in various labs as a summer job and one was for a natural products chemist. So I am still very interested in natural products chemistry.
I will be very primed with questions and requests when I see the hematologist but I know that testing such as a cytokine panel would never be approved unless you were in a study. Is that testing part of the study you are a part of?
I am indeed closer - Harpers Ferry, WV. CurcuWin is special only in that it is one of the bioavailable formulations. Various brands use it. I found it by chance before I saw the Integrative Med doc who recommended it. There are also blends that include piperine and liposomal forms. What matters is that it passes into the bloodstream so your body can use it.
I am fortunate in that I have good insurance. It appears that the Cytokine Panel will be covered. Otherwise it would cost $560 out of pocket. I am also going to look into a genetic myeloid panel that assesses some of the common non-driver mutations (TP53, ASXL1, etc). I have not really pushed the additional genetic testing since my PV is so indolent. I likely will test negative. Of course I am positive for NF1:c5425C>T so I do have increased risk for leukemic progression and other types of neoplasms.
ESR is OK for what it is, but you are correct about its limits. I am quite convinced that systemic inflammation is a real and significant issue to those of us with MPNs. The impact is so broad and diffuse that the impact can be hard to measure. Hopefully the folks looking into this will be able to provide better insight in the near future. Here is one good example of the work being done.
Hi Hunter, I had to look up your town and it looks absolutely beautiful. We have a great deal of natural beauty here but none of the historical infrastructure.
I ran my brother's dna through Promethease again and incredibly it came back as positive for Lynch Syndrome (with a proviso of possible false positive). Not that it is a good thing but it explains why he has had 3 separate diagnoses of cancer at age 63.
I recall my dad having a lot of problem with pruritis of which I have none. But I have cold-induced (just going into an airconditioned space) numbness of the tips of fingers and they go white, this is new. It is not like Reynaud's which has the other colour changes and it is not every finger. Warming them up in hot water does the trick and I suspect that this is a symptom that I will have to report when I have my Zoom visit with the hematologist.
He ordered an EpoE test with the CBC. I have a bit of trouble understanding why that test? He is also asking for liver enzymes. With my family history why not go for the gold which would save on health care dollars.
Your opinion and reflection is very appreciated, Lauren
Harper's Ferry is a lovely historical town. Much of it is actually a National Park now. Very interesting US history surrounds the town. It used to be a Federal Armory. There were iron smelting furnaces upriver that supplied the iron for the armory. The remains of one of those furnaces is near our cabin by the Shenandoah River.
The genetics that accompany MPNs are quite complex. There is more than just JAK2 that drives our outcomes. Of course, I also have the NF1:c5425C>T mutation which is a known risk factor for leukemic progression. Also increases chances for other neoplasms above and beyond the JAK2 mutation. I am looking into getting a myeloid panel done to get a better picture of my genetic risk factors (e.g. IntelliGEN Myeloid Panel). Will have to look in the 23&Me data more as well to see what else I can find since I know what to look for now.
The cold hands could be a number of things, but I would be suspicious of iron deficiency. With the JAK2 mutation present, your body may be metabolizing iron differently. PV can be mistaken for ET. The line between the two is not always clear, hence the term "Masked PV".
Testing Erythropoietin is part of a standard MPN workup. EPO is a glycoprotein cytokine that stimulates eythropoiesis. Normally, the EPO ligand binds with the EPO receptor, causing phosphorylation (activation of the erythrocyte progenitor cell) - essential to normal eythropoiesis. (Note: JAK2 mutation allows self-phosphorylation of receptors - hence erythrocytosis) Abnormalities in the EPO balance are one of the minor diagnostic criteria in the WHO diagnostic protocol.
The JAK2 mutation can also impacts the thrombopoietin pathway in the megakaryocytes - causing thombocytosis. It is not clear why the MPN phenotype of the JAK2 mutation can result in erythrocytosis, thrombocytosis, leukocytosis or any combination of the three. Perhaps the role of the non-driver mutations has something to do with it. Mutant allele burden almost certainly does.
Checking liver enzymes would be part of a CMP, which he definitely should be doing as part of the assessment process. Prothrombin times / INR should be done as well. He should also be running a von Willebrand Panel if platelets are above 800K (most docs do not do it until well above a Million). Can't recall if we have talked about all that before, so I included it.
I am about to do some additional testing myself. I am weighing the decision to begin treatment with PEGyated Interferon due to the possible progression of my PV. I am now having occasional ocular migraines and the one episode of hallucinatory palinopsia I wrote about in another post. The best theory so far is that a PV-related silent migraine stimulated the vulnerable area of the brain (occipital lobe tumor/surgery) and caused the palinopsia. No proof that is the case, but something caused focal cortical over-stimulation. The Neurologist is concerned about the incident cascading into something bigger and was thinking about prescribing Topamax. Due to the side-effects (cognitive dysfunction, dysgeusia, tachycardia, etc) I do not want to take it. I would prefer to treat the underlying cause. The MPN Specialist conforms that PEGyated Interferon is effective for PV-related migraine.
Once again I have "War and Peaced" a response in a post. I do hope to bet up to British Columbia someday. BC mandates CARF accreditation for some Behavioral Health programs, which is the work I still do in semi-retirement. I hope to get out that way on business and stay longer for recreation.
Well we all have lots of time to read interesting and well thought out communications. I was wondering if the town was featured in the movie that they made out of Bill Bryson's book A Walk In The Woods? I love reading him and though the movie was not as laugh out loud funny it was still watchable. How fortunate to live in that sort of history and beauty.
My last blood panel was in June and iron stores and RBC indices all in the middle range so not suspecting iron deficiency. I can see why they might test for EpoE if RBCs were high but I would think spending a bit on an US of the spleen or a confirmation of the JAK2 would be more cost effective. I have been taught to consider doing the least number of tests in all the years I have practiced. I do understand that EpoE might be suppressed if there was runaway RBC production but maybe not with normal RBCs. Well that is what I think, go for the major criteria. Interestingly the same hematologist saw my brother and he ordered tests for haemochromatosis and they were refused by the lab authority as being inappropriate for what my brother's labs were showing. We do have some oversight here on what we can order and some of the more expensive testing can be refused.
I had to look up palinopsia and is it the same as what is referred to as 'strobing'? I have had patients complain of that when I was reducing their SNRI antidepressants. I have had occasional central scotoma and one incident was significant enough to tell my FP about.
My JAK2 research has been postponed for research on Lynch Syndrome.
I read Walk in the Woods a longs time ago when I was still into backpacking. I have actually hikes a good bit of the Appalachian Trail from Virginia to Pennsylvania. One of the Potomac Appalachian Trail Club headquarters is in the town of Harpers Ferry. There are lots of great day hikes around the area to. The AT runs along the ridge line above my house. It really is a great place for a walk.
I am wondering that JAK2 needs confirmation. Did the doc not do that first of all? A positive should be followed by a JAK2 mutant allele quantitative analysis to determine the allele burden. (e.g. JAK2v7617f Mutation Analysis by Realtime PCR). Some docs are not doing more comprehensive Myeloid Panels that look for JAK2 - CALR - MPL and additional non-driver mutations (e.g. IntelliGEN Myeloid Panel). I am looking into doing that now to look for additional non-driver mutations that may or may not be a part of my clinical picture.
Many docs do not routinely do abdominal ultrasounds in the absence of symptomatic splenomegaly. With nothing palpable and no symptoms, chances are enlargement is minimal. It still seems like a good idea, at least initially just to rule out something atypical. I did get one as well as a CT. With all the other stuff going on, I have been scanned every which way from Sunday with just about every device in the lab. At last scan, my spleen shrunk a bit.
Palinopsia is very different than strobing. It is also different than flashers or the scintillation you get with ocular migraine. What I experienced was hallucinatory palinopsia. Images in visual memory being projected into the active visual field. I experienced all four forms: formed image preservation, scene preservation, patterned visual spread and categorical incorporation. The latter was the strangest of all. Here is the best resource I found on Palinopsia eyewiki.aao.org/Palinopsia . The kind of scotoma you describe is similar to what I have experienced with apparent ocular migraines. These are associated with ET and PV.
I do hope you get to the JAK2 research ASAP. I will be interested to hear what you learn given your stronger foundation. The operation of the JAK-STAT pathway (a tyrosine kinase system) is quite ubiquitous and complex. The role of mutant allele burden is important, but not as well understood as we would hope.
I also hope you can tilt the windmills of a large healthcare system to get the care you deserve. It can be a real challenge sometimes.
Your experiences with palinopsia must have been extraordinarily confusing. I can only imagine. Brain surgery is not a trifle. I have heard lots about my niece's deficits. And amazing to me is the fact that people cope. How did you cope? Was it through finding information?
My niece and I are all about information. She learned to drive again, despite losing position sense in her right foot. Fortunately she had driven lots before the surgery so some of the overlearning had already taken place. She uses her left foot on the brake.
My JAK 2 result came via my doing my own direct to consumer testing with Ancestry then feeding it through Promethease. That was in 2013. I told my family doctor who might have lifted an eyebrow when I reminded her of my family history and that was that. I corresponded with a Dr. Radek Skoda at that time who was studying MPNs but knew of no family studies of JAK2 positive people who were relatives of people with PV or ET as in my father and uncle. So that was that, until this spring when routine panel for this muscle pain that I can not figure out came back with platelets of almost 700 and a normal CRP. I asked at that time to be referred to a hematologist. So no one has confirmed what I found myself on that DTC dna test. And the hematologist has not asked for that either.
Here in Canada the family doctor is tasked with controlling patient requests for tests and referrals to put a cap on burgeoning health care spending. We are not allowed to pay for services that we could, as that is called a two tiered system and highly criticized. So our health care limps along with mediocre service for all.
So when my niece, who has had two primary cancers by 43 and a family rife with members who have several primary cancer diagnoses and MPNs asked for genetic testing, they said no. Hence my excitement that my brother has finally been referred to a genetics clinic after 3 primary cancers. And my suspicion that the DTC testing that I suggested my family have done is not a false positive for the MLH1 Lynch variant though it was flagged as being possibly that (in Promethease).
Yes you have to be very persistent in our health care climate. I was therefore gratified that the oncologist that saw my brother for this most recent cancer was receptive to this same DTC testing result that my brother has the homozygous deletion of the folate metabolizing gene and hence might have a more adverse reaction to the Capecitabine which metabolizes to 5-FU which in turn works though depleting folate.
Well as you can imagine, I have too many balls in the air. In addition I am the sole physician in my extended family so tasked with explaining to people why they might not be getting the care they feel they need and pressing them to advocate for themselves without just, hmm, spinning their wheels or getting themselves labeled as difficult. That is as inoffensively as I can put it.
Well now I am getting close to the length of the Shorter verion of the OED. Thanks for listening and enjoy the fall We don't get much colour as our forests are overwhelmingly evergreen and have not the climate to make our fewer deciduous trees put on a display. Do stay well.
The limitations of healthcare you describe are truly appalling, Testing for JAK2 in the presence of an apparent MPN should be automatic. It is a part of the WHO diagnostic protocol and part of standard practice all over the world.
The genetic testing for the Ancestry or 23&Me genetic testing that are run through Propmethease is actually looking at germline mutations as I understand it. The JAK2 results here are showing the presence of the JAK2 haplotype, that predisposes people to the acquired JAK2 mutation found in hematopoeitic stem cells and the derivative myeloid blood cell lineages. The JAK2v617f mutation is not present at birth. This mutation is acquired in the hematopoeitic stem cells for reasons that are not clearly understood. The mutation can only be confirmed with peripheral blood or bone marrow biopsy results. Failing to check for the JAK2 mutation in the presence of thombocytosis is malpractice. In the absence of a positive JAK2 finding with someone who has thrombocytosis, then CALR and MPL need to be tested. That would likely not apply to you as you almost certainly have the JAK2 mutation based on what you describe.
I must confess to having an OMG reaction to the fact that you have yet to have the most basic of diagnostic testing done. What you really need is a JAK2 Mutant Allele Quantitative Analysis. This is basic diagnostic information and bears on symptom burden and MPN status. Ideally, you would get something like the IntelliGEN Myeloid Panel that looks at all of the primary driver mutations and the known non-driver mutations as well. I must confess, I just do not get it. Testing for JAK2 is just basic competent MPN care.
I expect you already know that we are more prone to secondary cancers when a MPN is present. It sure sounds like Familial MPN is present in your family genotype, along with the related risks. This is very well understood, so I just cannot fathom a systemic failure to provide appropriate medical care to someone presenting with thombocytosis.
I do believe in all health care systems that assertive patients receive higher quality care. Passive patients do not. This is particularly true in large healthcare systems. I think is is vital for patients to advocate for what they need when the system is failing to provide it. Quite frankly, who cares if the healthcare agency "raises eyebrows" or precludes a "two tiered" system, People have no choice but to do what is needed when the system fails to provide them optimal care.
OK, I will get off my soapbox. Perhaps if you were to fire the current docs and seek care from one of the Vancouver-based MPN Specialists you would get proper care inside the system. If that did not work and had the resources, I would take a healthcare vacation to somewhere I could private pay for appropriate medical care.
Regarding brain surgery, a craniotomy and resection of brain tumor is definitely not a trifle. I am blessed to have had a fabulous neurosurgery treatment team at Johns Hopkins, with my surgeon being the Director of Neurosurgery at one of the best hospitals in the world. It was a scary, but amazing, experience to receive such high-quality neurosurgical care. The palinopsia was a very strange and unsettling experience. The apparent ocular migraines are not much fun either. The treatment team at Johns Hopkins on my case now includes: Neurofibromatosis Clinic/ Neurology, MPN Clinic, and Neuro-Ophthalmology. I really could not ask for a better care team. We will get it all sorted out and a plan in place.
As to coping with it, here is the list of coping strategies.
1. Support from my family, friends, and faith community.
2. This forum (my friends and MPN Family)
3. Maintain your sense of humor and find ways to have fun no matter what.
4. Surround yourself with things that are positive and lift you up.
5. Mindfulness practices - I practice Qigong.
6. Say the Serenity Prayer every day and take it to heart!
7. Educate yourself about your condition(s). Knowledge is power.
8. Create a high-quality treatment team who you trust.
9. Advocate for yourself. Assertive patients receive higher quality care. Passive patients do not. Remember that you are in charge of your care. It is your goals, priorities and preferences that must drive your treatment. Empower yourself to deal with the MPN.
I will close yet another War and Peace length entry with one of my favorite quotes, that I often find helpful to recite when things get hard (Frank Herbert, Dune) "I must not fear. Fear is the mind-killer. Fear is the little-death that brings total obliteration. I will face my fear. I will permit it to pass over me and through me. And when it has gone past, I will turn the inner eye to see its path. Where the fear has gone, there will be nothing. Only I will remain."
Oh and can you tell me which curcumin/curcuminoids you use? I assume that you have found one with adequate bioavailability. Do you do anything special with it, like take it in milk? How much do you take per day? Have you tried the other natural products that are said to have antinflammatory activity, like NEM, Boswellia, boron, quercitin? I followed a multiple myeloma support group for a while and was very impressed with the use of high dose curcumin to delay progression from MGUS to frank MM. My dog had multiple myeloma, and I put her curcumin Biomore brand, in coconut wafers, she lived 2 years after the diagnosis, she was almost 11. Can't begin to tell you the things my dogs have induced me to learn.
I am very puzzled with my doctor's comment that I can not have significant inflammation with an hsCRP <1.0 (0.6). There must be other pathways that don't elevate CRP but I am having trouble getting that information.
Oh and any papers you have that you feel are particularly good I will be happy to see.
Hi Planti, welcome to our forum. I am sorry that you are experiencing these pains, I am afraid that a lot of people with MPNs do suffer with these pains, talk to your doctor about some suitable pain relief to help you. I would also suggest that you have a look at the information on our website mpnvoice.org.uk, there is lots on there about MPNs, symptoms, medications, hopefully you will find it helps and answers many of your questions.
Let is know how you get on when you see your haematologist. Take care and best wishes, Maz
Thanks for replying. I take 900mg of gabapentin at night which helps somewhat. I am a little familiar with ET as my father had it for a number of years and died of a massive pulmonary embolus. My uncle also shared his expreriences with PV, he died age 62 of leukaemia. I think at this time, if I have ET or PV I am pretty symptom free apart from one peripheral blood clot. Time will tell, and I will confirm with the group if I do get the diagnosis. I will dig around the link you sent.
I was diagnosed in 2008 at age 52 with ET Jak 2 which has now morphed into post Et MF. I’ve been on this site about 2 years now and I didn’t realize the inflammatory connection until then. When I was in my early 30’s, I was diagnosed with fibromyalgia, and I have suffered with body pain, fatigue, and brain fog, pretty much for 30 years. . In my 40’s, I was diagnosed with arthritis in both my hips and my shoulder. I was teaching back then but I had to quit because it was just too much for me. It seems like ET was just the natural progression due to my history of inflammatory conditions.
I’m glad you found this site. Hunter is a wealth of information and there are many kind and supportive people here.
Hi Cja, If I have ET or PV I feel I have definitely been fortunate so far. This site is amazing, such a supportive group and yes Hunter definitely knows his stuff.
I will have to play catch up on cytochemisty and inflammatory pathways. My PCP (I think that is what we call Family Physician or FP) says I can't possibly have inflammation because my C Reactive Protein (CRP for short) is in the lower end of reference range.
I have read that keeping active is key to controlling inflammatory symptoms and have definitely found that to be true. Hard to push through but worth it.
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