Likely facing ET diagnosis at age 30. Possibly had it for many years prior. Worried sick about not living normal life expectancy. Have a young family. Looking for support from those diagnosed young like me.
Need perspective from people diagnosed with ET a... - MPN Voice
Need perspective from people diagnosed with ET at young age
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cmc_ufl
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Hi there.
I’m really sorry to hear that you’re ‘worried sick,’ but totally understand. Diagnosis is a worrying time.
You can make a request to the forum administrator (Maz) for a ‘buddy.’ This will be someone of a similar age and diagnosis as yourself to offer you support at this critical time.
See ‘Contact us’ Mazcd, Administrator to the right of this post.
In light of your young age, if you haven’t already done so, I would suggest that you consult with an MPN Specialist.
There are many young people on the forum, so hopefully someone will reach out soon. There are also older people who are still living with the condition 30+ years too.
Be careful how you source information. There are a lot of unreliable sources. I’ve attached a link below to MPN Voice, which is a professional and reliable site.
Mary
Hi, I was diagnosed at 38, now 51 so i've had it for some time now and like you probably had it a few years before that because I had 'out of range' blood tests results which wasn't acted upon until I had a small stroke and became very symptomatic. When I was diagnosed I was put on Hydrea and Aspirin straight away but now on Clopidogrel with the Hydrea after another subsequent stroke but i'm classed as high risk. Most people can have a normal lifespan and lead a normal life and some are asymptomatic and more than likely to die of something else or of old age! You don't say whether you have been diagnosed with a gene mutation, ie, i'm Et jak2, also do you have any symptoms? By the way,I had a young Daughter when I was diagnosed,now Married with 2 Children of her own! Sending hugs. Tina.xx🤗
Thanks for your perspective, Tico. Very frightening to get this news. My thoughts continually turn to the welfare of my wife and children if something were to happen to me. I am still awaiting the specific genetic results for my ET, but all other causes have been ruled out and all other blood counts are in the normal range.
Thats the best thing you can do, to keep things in perpective. I also noticed your other post on Leukemia progression, please bear in mind this is fortunately very rare and the % is very low and you will more than likely lead a very near normal life. Wishing you well. Tina.x🤗
So by now you don't have results from genetic testing and you did not have a BMB? And you were diagnosed with ET though?
I'm 36 and waiting for a diagnosis. As you can imagine I did a lot of of research during the last weeks and I've found a paper from an MPN specialist who stated that there is (near to) normal life expectancy and there is only a small chance of progression when diagnosis was made based on the WHO guidelines.
Nevertheless I can totally understand your feelings and concerns. I'm just trying to tell myself that no one on earth knows how much time is left. Fully understand this won't comfort you, I do have 2 small children and I'm worried sick too.
Thanks, JaneWayne. Was this paper specifically focused on young patients? The worst part of this for me is knowing the reality this could bring for my young family. My thoughts continually turn to the welfare of my wife and children if something were to happen to me. Did you have any prior indications of elevated platelets before this point?
Yeah, it was a paper about young adults with MPN. I wanted to show you, but I couldn't find it anymore. However, if I do I'll forward it to you.
I've found some blood counts from 2018 and there was one with elevated plateletes in September (403). I initially thought that may have been the first sign. However today I've found 2 more, one from August and one from September 2018. Both were normal. I became then pregnant in Dec 2018 and all my blood counts were totally perfect until my baby boy was born in Aug 2019. I didn't have any blood work done until Sept 2020, so not sure what was happening in the meantime. My platelets came back with 440 then. Next time 409, 509, and it again dropped to 423 then. Not sure what's going on, but I'm awaiting results of genetic testing.
But as far as I understand, it's not relevant for statistics how long you've had this condition before diagnosis. That's speculation and therefore can't be used.
Hi Really sorry to hear about your diagnosis and totally understand that you are worried
I was diagnosed with ET at 22 and now 41 and now have 2 young children. Happy to help anyway I can. There is so much info out there now about MPNs and different treatment options depending on platelet count and symptoms. This group is amazing to find support and advice , take care x
Thank you very much for your kind words. My main concern is the long-term risks being diagnosed so young... everything I seem to read says risks of transformation exponentially increase with each decade. Not sure if this is accurate, but it is scary nonetheless.
Yes it definitely is a worry but your consultant will give you regular blood count checks to look for progression and treat you as to how symptomatic you are and also as to how high your platelets are? I think a lot of people still diagnosed a lot older so the statistics are based on that and my consultants often tell me they expect me to have normal life expectancy as long as everything is well controlled. I do remember at one time there was discussion around pegulated interferon helping regression as well which you might want to ask about if you are going on any treatment. At the moment I am having blood checks every 8 -12 weeks so they do keep you well monitored and you obviously have the opportunity to let them know if you feel any different so if they are concerned they can investigate further. Take care
Thanks for all the information, I will definitely ask about pegylated interferon.
It looks like my situation might be similar to yours. My platelet counts:
2008 (age 17) - 380
2011 (age 20) - 464
2021 (age 30) - 437, 495
I'm not sure what the likelihood would have been that I had ET in 2008 with a count of 380, which was declared normal even though I understand lots of labs say 350+ is elevated at that age. But definitely a jump between age 17 and 20.
You are correct that some labs use a lower reference range to determine thrombocytosis, but the convention is to consider 450 the top of the normal range. It is normal for platelets to cycle by as much as 100k in a single day in response to stimuli like bleeding, injury or infection. What matters is the trend over time. The numbers you are citing are very low with no evidence of progression in 10 years, That is very good news. You have also not reported any significant symptoms other than some slightly abnormal lab values. That is also very good news. I just posted a nice summary of ET risks presented by Dr. Spivak (my former MPN Consultant) on another post. You may want to watch it to get a better overview of ET risks.
You have noted your concern about progression, which can be to either Myelofibrosis or Acute Myeloid Leukemia. While this is a risk, the vast majority of people with ET do not progress to these other MPNs. In my own case, I did "progress" to PV about 7 years ago. I was originally diagnosed with ET about 30 years ago. It is quite possible that I have had masked PV all along. My old hematologist missed the "progression" to PV when it occurred. He actually fired himself when the missed diagnosis became evident. I now see a local hematologist for my on-going care and consult with a MPN Specialist who advises me and my treating hematologist regarding my care. This is a great arrangement and ensures I receive optimal care.
Do know that there things you can due to reduce risks. When managing a MPN it becomes more important than ever to take good care of your body and proactively manage your own health. Diet, nutrition, exercise, cardio-vascular health, stress-management, and controlling inflammation are very important. Note that there is evidence that controlling inflammation is a key factor in minimizing cancer risks across a large number of cancers. This is highly relevant for those of us with MPNs. I have had great success using a biologically active formulation of Curcumin for this purpose. I also follow a Mediterranean/anti-inflammatory diet, which has multiple benefits. There is some evidence that N-Acetylcysteine can be helpful. (I use L-Glutathione as an alternative).
The key thing to know is that you do have the power to manage the ET effectively. It requires that you educate yourself about MPNs and then use the information to make good choices. Consultation with a MPN-expert doc is absolutely critical to creating an optimal care plan. Do whatever is necessary to include a MPN Specialist on your care team. Also know that assertive patients receive higher quality care. Passive patients do not. Be prepared to become your own best advocate as you negotiate the healthcare system to get your needs met.
All the best.
I've read that NAC should not be taken if you have a blood disorder. Does that include those with MPNs?
Not according to Dr. Angela Fleischman who specifically recommends it based on her research on MPNs and inflammation. My Integrative Medicine doc agrees.
NAC is mildly blood thinning. People with bleeding disorders would need to use caution. This seems to be the case with most anti-inflammatories.
Hunter,
Thank you for your very kind words and for all the information you have provided me both in this message and in your reply to my other post. I will certainly look into all of your suggestions.
A couple specific questions I have for you:
You mentioned that the fact that my platelets have been low and stable for 10 years is good news and that there is no evidence of progression at this point. Is there usually a correlation between increasing (or absolute) platelet levels and risk of transformation to MF or AL? Do physicians use platelet trends to assess transformation risk?
When you say the vast majority of people don't transform, does that also apply to younger patients like me who will have the disease over a much longer period of time than the average patient?
Thanks for your inspiration and help!
You are actually asking some rather complicated questions. I will attempt a KISS answer from the perspective of a non-medical professional. Bear in mind, I am just another guy with a MPN just like you. I have just had it longer.
Disease progression can be accompanied by an increase in thombocytosis. This can be just progression of the ET, not necessarily a progression into MF or AML. To use the JAK2 mutation as a specific case in point - JAK2 mutant allele burden [% of hemopoietic stem cells (HSCs) with the JAK2 mutation] correlates with disease burden and progression. People with ET tend to have the lowest allele burden, people with MF the highest, people with PV somewhere in the middle. The JAK2 mutated HSCs have a clonal advantage over the Wild-type (normal) HSCs and tend to increase over time. The rate of increase in allele burden can vary widely. The fact that your level of thrombocytosis is stable is a good sign that the ET is not progressing. The fact that you are not experiencing thrombosis, microvascular events, hemorrhage or other symptoms is also a good sign that your ET may be relatively indolent.
Regarding age at diagnosis, this is an area that is under active study, Pediatric/Young adult MPNs are not common, but do occur and there are MPN experts looking specifically at this issue. While I have not delved deeply into this topic, what I have seen does not include any indication that your risk of transformation into AML or MF is intrinsically higher. If you want to look for more information on this, know that Pediatric and Young adult MPNs are often lumped together in the research. Here are a couple of links to get you started.
mpnresearchfoundation.org/P...
pediatric-mpn.weill.cornell...
I do understand that your primary concern at this point is the risk of progression, particularly into AML. As you stated, there are different numbers cited in the literature. There are multiple issues with interpreting these numbers. You cannot try to convert these statistics into an individual prognosis. It just does not work that way.
What is known is that there are non-driver mutations that can increase the likelihood of disease burden and progression into MF and AML. You have likely already heard about the primary MPN driver mutations (JAK2, CALR, MPL). There are also a number of non-driver mutations that can increase risk for MPN disease progression (as well as other cancers). TP53, ASXL1, NF1 and more. There is a way to test for these mutations. The test is called a MPN Myeloid Panel. This is one example. (This is the one I recently had done for myself)
integratedoncology.com/test... .
A bit of a side note: I am positive for the JAK2 mutation. Between 2019 and 2020 my mutant allele burden only increased from 25% to 26%. When I ran the MPN Myeloid Panel, I was negative for all of the non-driver mutations except for NF1. I already knew I had this mutation as I also have a co-occurring condition - Neurofibromatosis Type 1. My PV is relatively indolent. The fact that I have the NF1 mutation does increase the statistical probability of progression to AML. I simply do not worry about it. I focus on the things I can control and try to make good choices to reduce my risks.
At this point, I would suggest the following if you want a more specific analysis
1. Consult with a MPN Specialist, preferably at a MPN Clinic (like the Johns Hopkins MPN Clinic where I go) - Do this no matter what else you do.
2. Find out what your specific mutation and mutant allele burden is.
3. Run the MPN Myeloid Pane
4. Consult with the MPN Specialist about the value of a bone marrow biopsy in your case. Some docs always do them. Other do not. After 30 years with a MPN, I have never had one. I do not feel the need, but others do feel it is important.
Hope that helps.
I was diagnosed at age 40 but actually had my first blood clot at age 18. I’m 65 now. I take Hydrea 500mg every other day (for 18 yrs. now). I have had several basal cell cancers (from taking Hydrea), get migraine headaches and heart palpitations related to ET. Overall I am doing well and consider myself lucky. I really do not have any life limitations related to my diagnosis.
That's interesting. I am only on aspirin, watch and wait, diagnosed at 74. Before I retired from teaching I used to have frequent disabling migraines and had seven BCCs. I get palpitations on a daily basis, but all these things happened well before diagnosis except the palpitations have increased in the last year. I'm wondering whether Hydrea is responsible as it clearly can't be in my case.
Read:
mayoclinicproceedings.org/a...
Gosh! These patients have developed a huge number of BCCs, though I note they are very small but probably discovered due to there being some expectations that they might occur.
My haematologist upbraided me for not mentioning that I had had surgery for these (I didn't think skin lesions counted as "surgery") so having read this, I guess that it would point to her choosing not to treat me with these medications in the future in view of the fact that I already have a propensity for them.
My old hematologist knew about my history or having them and still put me on Hydrea. I only found out about the connection between Hydrea and BCC since finding this group and then doing follow-up research. I've had about 7 BCC removed to date.
I wonder whether your haematologist hadn't done their homework. I've had seven removed but not all surgically. With the surgical ones I discovered that my body would not absorb the stitches, which caused more problems than I would have guessed.
This was 18 years ago. I wonder that myself... all the more reason to see a MPN specialist.
I still don't know whether my haem is an MPN/MDS specialist. Proper diagnosis was some months delayed and it seems a bit late now to start questioning. She seems to know her stuff, but mostly asks questions and says my bloods are hovering. I have the exact results and they are not hovering; red is dropping and platelets are rising.
Thanks for sharing, your story is such an inspiration. Since you had your first blood clot at 18, do you think you had ET since that point and they just missed the diagnosis until 40?
Hi there, Really sorry to hear how worried you are, I can totally relate. It’s a horrible scary time.
I was diagnosed with ET when I was 25 ( on my birthday) I still remember it so clearly. I had been feeling poorly for quite some years. I was put on HU straight away due to my counts being so high. I remember looking at the figures on life expectancy and feeling overwhelmed.
But please let me reassure you. I’m now 42, I’m okay and feel well. 2 weeks after my diagnosis I flew out to Greece and got married. 2 years later I had my daughter, then 18 months after that my son. They were classed as high risk pregnancies, I was on interferon injections, apart from my daughter being on the small side we were all okay. I have worked as a nurse since I was diagnosed and have been back to uni last year to do a specialist degree. I don’t know how old I will live to be, but I don’t think there are any guarantees in life for anyone and I will carry on getting my bloods checked every 3 months and actually trying not to think about the ET in between those times.
I’m not saying I haven’t been affected by ET, I’ve been through some times when I’ve felt robbed of my health and worried about the future of myself and my family.
My advice would be arm yourself with as much information as you can. Be aware of your symptoms and how you can manage them. Talk about how your feeling. This group is great for that, but also talk to the people around you, don’t bottle things up.
Honestly, 17 years on from that diagnosis, it’s okay, I don’t feel my life has been affected particularly. ET is part of me, it’s not what defines me. I hope it’s made me into a kinder more understanding person, especially in my career, with my children a and family. Life is never straightforward and this is one of those moments.
Take care of yourself
Nicky x
I was diagnosed at age 37, my platelets were in the 800s and I had felt unwell for at least a year before. I went to my doctor with fatigue and stomach problem and I was treated for depression, it was only after 2 months that a blood test was taken and the platelets recorded. I have the jak2 mutation.I had three young children at the time and can relate to your fear, I did not think I would see them grow up. Forward 21 years, I have two gorgeous grandchildren that I hope to see grow up. It hasn't always been an easy journey with ET but I hope my story will ease your mind a little. Take care, you will find support and advice on this site.
Hi am 33 was diagnosed last year similar to yourself following
Along with MPN Voice you might want to sign up for MPN Research Foundation . You can get a lot of useful information and support from both sites. There are probably others but those two are the only ones I know. I think there is a site called MPN Hub that has a lot of information about MPNs. Get a good MPN specialist, do what they say and you are gonna live a long and prosperous life. Best of luck to you always. I can't always do it but what I try to do is go to my appointments, do what the doc says, and then go out and live life as if I did not have this disease. Best of luck always.
Hi there I was diagnosed at 25 with ET and I'm now nearly 47 in a few weeks, my advice would be to not give up and don't listen to much to all the problems and woes, just keep thinking positive and live a healthy livity....Take is easy
Nick
Thanks for your kind words. When you were diagnosed, was there any bloodwork in your past (prior to 25) that showed high platelets? Only asking because my records showed missed high platelets at least 10 years prior to now.
I do think I had it for for longer before as I was unwell for a while before, I noticed a strange headache when I used to ride mtb and gp sent me for a blood test, next thing the doctor rung me that night to get me in as my platelets were over 3k, lucky really but I'm still here. Yes I think alot of us had it for a while prior to diognosis....
Take it easy
Nick
Hi there cmc_uflI got diagnosed with ET a few months ago aged 35 (looking back at my blood tests it seemed I’ve had it for at least 7 years! Went through a whole pregnancy which is so risky without anyone noticing or giving me any treatment for it!)
Have a little girl aged 2 years old
The Diagnosis was very shocking for me
Especially as I was told I was young compared to others
When I joined this forum I hadn’t stopped crying for days as I really didn’t know what I meant.
But thankfully I got a lot of reassuring messages from people and it stopped me crying in the first instance! And helped me feel
Like I wasn’t alone! I hope you are able to find comfort in this community
Lots of people messaged when I posted something similar to what you have written and said they have managed to try and live normal lives and for many normal life expenctancy
Hi cmc_ufl, I was diagnosed with ET, Jack2+, in 2019 and haven’t been on treatment yet. I can totally understand your feelings, I was so afraid for my little girl when I found it out, I believe I have it from the pregnancy (2017). Thankfully after one horrible year (2019) I was having panic attacks or I thought I had, I was diagnosed with ET and I’ve been monitored every 3 months. I try to think positive and I’m so glad that I have found this forum. You are not alone. Best wishes
Hi , I was diagnosed 20 years ago at the age of 42 , have been on hydroxyurea since then with no ill effects . There are times when exhaustion takes over however for the most part I feel fine. The one piece of advice I would offer is plan for your future financially if you possibly can , a lot of our community have taken early retirement or dropped to part time in their fifties so if you can pay a little more into your work pension or savings account that may be beneficial at a later date. I’m sure you have a long and fulfilling life ahead of you .....so enjoy.
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