Hello, I hope everyone in here is doing well with high spirits!
Let me start by saying this diagnosis had spiked my anxiety to the point where it’s out of control. It sadly feels like I’m waiting for the next negative thing to happen and I’ve completely lost connection with the world, my kids and mg husband.
I’m finding it hard to lead a normal life after receiving the diagnosis at a young age 😔.
I wonder if I’ll make it to see my littles grow up..
Anyways, after 15 months of testing, I now have a diagnosis of triple negative pre-fibrotic primary Myelofibrosis. I would love to connect with those who are in the same boat as me!
A bit of back ground: healthy 35 year old female with unremarkable health, I went for a routine blood work a day before giving birth, and they found my platelets at 1200. I’m asymptomatic, and feel normal with no changes to my health.
I have had blood work a month prior my due date and my platelets were within normal range so this high spike was quite shocking.
After months of testing and two BMB, it was determined that I was triple negative for driver mutations, BMB shows Hypercellular marrow with granulocytic and megakaryocytic hyperplasia and fibrosis of 0 not more than 1 with no collagen fibrosis.
At that point, (12 months into testing ) my platelets came down to 600 without medications and are floating around that number up until now.
Given my over all profile and the TN for driver mutations, the hematologist I’m seeing wrote the following on my report :
”From a pathology perspective, the lack of leukoerythroblastic reaction in peripheral blood, absence of dysplasia, and previously negative JAK2/MPL/CALR testing could point toward autoimmune myelofibrosis”
As a final investigation, he decided to run an NGS panel for other mutations.
The NGS panel revealed a loss of function in the SH2B3 mutation. He then changed the diagnosis to prefibrotic Primary Myelofibrosis.
I’ve done so research on the mutation specifically and the outcomes with it, and the research is limited and still all over the place.
Some reachers state that this mutation leads to progress only if a driver mutation was present, while others state that this could be a new driver mutation for MPN diseases.
I wonder why I didn’t receive and ET diagnosis or autoimmunal Myelofibrosis if the NGS wasn’t run, we would have never known!
For now, I’m slowly accepting the diagnosis and adjusting to my new normal.
Written by
Dekou
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While it sounds like your hematologist is knowledgeable, can you access an MPN specialist? These diseases are very rare and difficult and the patient usually benefits from the experience and expertise of a doctor dedicated to MPNs.
The diagnosis between ET and pre-PMF can especially be difficult. I too have had my initial diagnosis vacillate between ET and pre-PMF. You don’t mention any of the minor criteria for pre-PMF (according to the WHO diagnostic criteria must have all of the major criteria and at least one of the minor - in my case had all major and two minor (persistent leukocytosis and an LDH level above normal)..
It can be overwhelming at first (and second and third)…but the good news is that, if needed, there are treatments that might help either stall progression or even reverse (thinking about the interferons)…but if you are healthy otherwise and have low symptom burden try to keep it in perspective and know that you and your medical team is keeping on top of things and any changes you will be able to respond to quickly. As I had to go the cytoreduction route, I wound up on Pegasys with fairly good results so far. So I take my injection every two weeks and try to stay active, eat better, get more sleep (not easy) and believe I am doing everything I can to make sure I’m around for my kids growing up, getting married and grandchildren
As you rightly put it, it is adjusting to a new normal but it can be an OK even good new normal (given the hyper focus on our health we probably tend to catch any other potential health issues super early which is always better)…
I’m not sure how I’ll be able to access an MPN specialist in my area as we don’t have private practice here in Canada ( you’ll have to be referred to see a specialist ) but I would love to connect with one.
I’ll mention it in my next appointment and see the steps needed. My Dr is great but most of his answers were “ I’m not sure” as he didn’t see many patients my age with my specific mutation.
In regards to the diagnosis criteria, you’re correct, I didn’t cross all of them, and during my last appointment, I had my dad ( who is a surgeon ) attend with me and asked those questions, and the answer was again, I’m not sure, but still made the diagnosis above.
Thank you for your input and I’m defiantly taking the steps to find an MPN specialist.
sounds like you have a great plan (and good support). Hopefully your hematologist, who sounds good, will be happy to refer you to an MPN specialist ( I had to have my family doctor refer me and his point was “I’m not a specialist in this area and you should see someone who is and hopefully we’ll both learn something”) - good doctors usually have no problem referring patients as they want their patients to get best care, recognize “they don’t know/aren’t sure” and might actually end up learning something that benefits their own knowledge base and their future patients). There is a list of MPN specialists on the site (can’t access right now) - so You might want to check which are closest to you and perhaps even reach out prior to your next appt with your local hematologist to see if they could take/share your case - that way perhaps you could approach the local doctor and be like - “!they are willing to work with you on my case all they (I) need is a referral from you”
Definitely let us know how you get on - the whole pre-PMF area is very unknown even within rare diagnoses like the MPNs so the more info we share the better.
I am sorry to hear you are struggling with your diagnosis but it is to be expected . Whenever we receive news like this it can take a few months to get your head round everything and adjust . Everyone reacts differently but please don’t lose hope .
Like you I was first diagnosed with MPN -U . The U meaning unspecified but the likely diagnosis was Myelofibrosis . A year later at the age of 67 I had stage 2 myelofibrosis and was luckily offered a stem cell transplant which I had 9 months ago . I am so pleased I had it . It’s not been easy , tough but do-able , the road has been bumpy but I am a lot better now and I am looking to the future . I was given my future back .
I know how daunting it can be when you are given news and updates but hang in there ! You are young and there are lots of available and new drugs coming onto the market which can slow the process down .
My advice to you would be to
1, Get yourself a good MPN consultant . I’m not sure where you live ? It is essential that you do this . I had a very good one which made all the difference and was a great comfort . If you go to a hospital that specialises in MPN’s they usually have support nurses too that you can contact about any concerns . They are a fantastic support .
2. Take one day at a time and be kind to yourself .
3 . Live your life as best you can . Try not to waste the time you have whilst you felt well .
4. Don’t give up hope . Just keep going . You are young and advances in medicine are being made all the time .
5 Get help and support from family and friends where you can . They will help you through .
Where I live the Stem cell clinic is full of people young and old who have had stem cell transplants , some many years ago . They are alive and living .
Always remember you have age on your side too . You can’t change the situation but don’t give up hope and keep going .
Hello and welcome to the forum. This is a great place to find information and support.
You have already received excellent recommendations from others, so i will just add support to the importance of consulting with a MPN Specialist. Getting a second opinion when dealing with any serious medical condition is always essential. Here is a list of MPN expert doctors. mpnforum.com/tsr-the-list/
Thank you so much for the list Hunter, I was able to find one in my city from your list! He actually does research at the same institute where my hematologist does research as well so I’ll be connecting with him.
If your current hematologist is not a MPN Specialist, he/she may have already consulted with this more knowledgeable colleague. There should be no issue with seeking a second opinion with the MPN Specialist of your choice. Some choose to seek the second opinion from an unrelated party to ensure complete objectivity.
Understanding the technical side of the differential diagnosis between a triple-negative ET/MPN-U/Pre-PMF/Autoimmune MF is important. Sometimes, it is not altogether clear. It does have a bearing on how you think about your treatment options.
Your treatment choice will need to be based on your treatment priorities. There is more to managing a MPN than preventing thrombosis. Many now place emphasis on quality of life and preventing progression of the MPN. Given your young age and desire to be around for your littles, preventing progression may be a primary concern. Having this discussion with a MPN Specialist is a very good idea.
Please do know that it is possible to plan to be around for a long while. Treatment options for MPNs have improved in recent years and there are more promising options in development. I was diagnosed with ET over 30 years ago. It progressed to PV about 11 years ago. I raised two kids and now am a happy grandfather. I have lived a good life and at age 68 continue to do so. There have been some challenges with managing the MPN and other MPN-unrelated issues. I call these "interesting health learning opportunities." All of these challenges have been met successfully. I am using Besremi to manage the PV, which is the optimal treatment plan for my case. I feel better now than I did 10 years ago.
Hi Tortina and thank you for taking the time with your input ❤️
I’m glad that you’re doing better now and yes, looking for an MPN specialist will be my next step!
I live in Canada and I would need a referral to see one but I’ll speak to my hematologist to help me sort this out.
My family has been the best support system, I sadly find my self avoiding them though, I’m always making an excuse that I’m busy working or cleaning the house when none of it is true 😔
I did decide to go back to work though now that my maternity leave is over and hoping this will keep me busy.
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Triple Negative --- MPN
triple negative ET
reticulin fibrosis
Possible ET but triple negative
