It’s taken me a while to gather my thoughts and to introduce myself properly, I’m Joe and I’m 42 years old. My story feels like a bit of a long one, despite only being diagnosed with the JAK2 mutation in May. I’d been feeling very under the weather for at least a year before, visiting my GP initially with intermittent pains in my feet and hands, it felt a bit like frost bite and was painful enough on occasions to prevent me from walking. The first GP I visited as good as asked me if I was a hypochondriac and so my symptoms continued and changed over the next few months. Then, in April, I presented with massive chest and abdominal pain, a different GP told me to come in to the surgery straight away and then sent me to A&E, where they gave me an ultrasound scan that showed very little, due to gas in my abdominal cavity. They sent me home with Buscopan and Ibuprofen, I think. That just made my symptoms worse and a few days later I was admitted to hospital in excruciating pain. By this this point I hadn’t really eaten or slept at all in over a week because of the pain and as a result, I’d lost 2st in weight. An MRI scan rang some alarm bells, enough for my consultant to push for an immediate CT scan which showed the gravity of the situation. My spleen and liver were massive and I had a scattering of small clots throughout my liver. The bigger problem however was that my Portal vein, Splenic vein and Superior Mesenteric vein were all completely choked with blood clot. This must have been going on for some time as a network of veins had rerouted around a small part of the clot. This extensive abdominal thrombosis had caused liver failure, sepsis and the onset of mesenteric ischaemia, so I spent the next 3 days in critical care and 10 days in hospital altogether. In short, I am very lucky to still be here and I know it. The hospital staff did an amazing job for me.
After being discharged from hospital and a little wait, my blood test results came back showing a JAK2 mutation at 24%. For 3 months I injected myself twice a day with Heparin (2 x 80mgs) and have now transitioned to 14 mgs of Warfarin and 75 mgs of Asparin. My blood numbers had all been heading back down to near normal since leaving hospital, but last Monday I had a haematology clinic and my haematologist told me that several are beginning to rise again, particularly my platelets. If they continue to rise between now and my next clinic in 7 weeks, I’ll be starting on Hydroxy.
Mostly I still just feel incredibly lucky, but the reality of actually living with this may get me down yet. In the meantime, it’s a pleasure to join this community.
Joe
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cabinetmaker
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Welcome and thank god you are here. This is the most important and thats what you have to keep in mind. I believe that future treatments in MPN's will be very good and meaningful for us all. You may now get down by the idea living with an MPN, but i believe it can get a lot better
Hello joe - gosh! many on this forum had a long haul to get symptoms taken seriously + get diagnosed (though not with such serious complications) - you will find invaluable support here and if you have not already done so, look on MPN voice which has loads of information - you will see there are many who have, with good management been doing fine for many years with this condition. Hopefully you have a good haems team who will get your counts under control. There is always someone on the forum that can help with any questions. All the best Anne-Marie (ET JAK2+)
I can relate to a lot of your story, as will others on this site. The positives are that things will improve, maybe not get quite back to normal but better than now. It took me probably almost a year to get my head around things and recover enough from the total portal vein thrombosis, small bowel ischemia and multiple splenic infarcts , I had no liver damage and hope yours will recover. I've been on warfarin for 18months now and hydroxycarbamide for a year, since the bone marrow biopsy confirmed ET. Have you got a diagnosis apart from JAK 2? hydroxycarbamide is just another drug that's there to do a job, it doesn't agree with some people but a lot have no problems whilst taking it, I think of it as something there to help stop any other clots(really don't want any more) there are other treatment options, mpn voice is a good website to get a lot of information from. I have always been a very positive person, never had anxiety or low moods but the first year after the clot and diagnosis was really hard mentally, partly due to fatigue and physical weakness, partly because it just takes time to get used to constant INR checks etc, still suffer from abdominal discomfort, just waiting for a ct to confirm it's just the damage from 18 months ago and not anything they need to sort out.
Keep positive but it's ok and normal to have down moments
Thanks for your reply Karin, it sounds like we’ve had very similar experiences. My haematologist says she is pretty sure I have PV, as yet though, it hasn’t been confirmed by a bone marrow biopsy. I guess that will be happening sometime pretty soon, my haematologist was waiting for my blood to start acting up before giving a definitive diagnosis. I think that I too am a pretty positive person but you’re right, it does take some getting your head round. It has left me very weak and the fatigue means that I struggle to work, but my perspective on life has changed and for the moment, I’m ok.
It makes me realise just how lucky I am to have been picked up on a random blood test.
I would advise you to get a second opinion from an MPN Specialist, especially with your presenting history, and you’re so young too. It may well be an expert would advise Pegasys over hydrea because of your age.
Hi welcome. What an awful time you’ve had and such dangerous health situations. My diagnosis was similar but not as bad. Both my lungs filled up with blood clots and I couldn’t breathe. After being rushed to the hospital in time to save my life, I was in intensive care for many days. When I left the hospital my lungs were so weak I could barely walk, even with a walker. My husband would hang onto a tight strap wrapped around my waist & wheel the oxygen which I needed 24/7. I managed to improve enough to get off it during the day but unfortunately there was enough permanent damage that I have to sleep with oxygen & use it 24/7 when sick. But my come back was probably much easier than yours. Your body (& mind) will need awhile to recover from this. It’s even hard emotionally, especially to then learn you have cancer. Then, if you need Hydroxyurea it takes time to get comfortable about that. I was on Warfarin but if my levels fell out of the therapeutic range I’d develop blood clots in 2-3 days. So I’m on Eliquis instead. But you will adjust to it all & within a year you’ll probably think of it as perfectly normal. I agree that you should try and see someone who specializes in MPNS. That person can come up with the best treatment plan and probably then work with your hematologist with a few face to face visits a year. In the meantime this forum is filled with wonderful people who understand. We post questions, we post when we’re needing emotional support & a sympathetic ear and even just to express frustration. I’m telling you this so you realize that we’re here to help you in anyway we can. And the first year can be really hard. I admire your strength and hope things continue to improve. Katie
Thank you Katie for that wonderful message of support. It sounds like a truly horrendous situation to find yourself in and makes me think just how lucky we’ve been to have the care and support of family and partners. Clots in the lungs sound particularly problematic and dangerous and I admire your strength in coping with the situation that you find yourself in too, but I guess it’s what we do because what else is there. Life still seems pretty good to me, if somewhat different from the life I expected.
I wish you all the very best too and I’ll get that second opinion.
Katie, I had no idea that you had all those terrible difficulties. You are always so supportive and kind to everyone else when you've been through so much, yourself. When did you first get diagnosed?
I was diagnosed in January of 2014 but suspect I’d had it a few years. They’d found blood clots in my lungs a few years earlier but thought they were caused by my getting IVIG treatments monthly for my Primary Immune Deficiency. So I switched to sub-cutaneous infusions and no one thought to check to see if I still was getting blood clots. I consider myself fortunate. My son’s mother in law was diagnosed with lung cancer & died 6 months later. There are many MPNers on here who have much worse effects from their MPN &/or treatment than I have. But believe me, I’m not a saint. I’ve resented the weakness in my lungs a few times because I know it was all avoidable. But I thank you a lot for your very kind words. They really touched me. Katie
Hi, hope you feel better soon. I am new to this community and was diagnosed in July this year, with ET jak2 positive. I can relate to the pain which you get in your hands and feet . I have been advised to elevate my limbs, and it does help . I hope you find lots of support on the forum . Best wishes to you . Stay strong !!
Hi Joe, welcome to the group. Your story is shocking. It took a while for my doctor to diagnose me with about a year of GP appointments and hospital visits with various ailments before they realised that my blood counts were the cause.
Anyway enough of that, I’m so glad you’re now diagnosed and can be treated appropriately. It’s not the end of the world to have a MPN. It can just take a bit of time getting your treatment right and finding a drug that suits you and controls your blood cells. I’ve been on Hydroxy since 2008 and remain well controlled. So stay positive Joe you have survived and now everyday ahead is a bonus. Remember this group is always here to help x
That’s good advice and I’m going to try and approach every day with that thought in mind. I think this group will be a great source of support for us and I’m so glad I’ve found you all.
Hi Joe, welcome to the group. I was also diagnosed with ET Jak 2, although I have not experienced what you've been through with all the pain but I can relate to how you feel, and I couldn't agree more what other suggested that finding a MPN specialist is very important and have a bone marrow biopsy which is the only proper way to diagnose (I believe you already had one). You'll have lots of support here with lots of knowledgeable members. Hope your conditions will improve and will have less pain.
Blimey Joe, you have gone through so much yet been so lucky. No matter if you are diagnosed with PV or ET, you are now “in the system” and can get the appropriate care.
Your experience with the GPs was, unfortunately, what a lot of us have experienced. They have so little knowledge of what these conditions are about that they can be quite blasé about it. This can be very frustrating because most health care professionals do not like the patient knowing more about the condition than they do.
If I have to go and see a new doctor about anything I always carry a printed list of symptoms associated with PV and the possible complications. The MacMillan cancer website is also a valuable source of info.
I hope you get your answer soon so that your treatment can commence. I have been on Hydroxy for 4 years and I think it’s a Godsend. There are side effects which affect some more than others and I take it at night as it can make you sleepy but the pro’s far outweigh the con’s.
Finally, any questions at all, please just visit us here. One of us is bound to have the answer or has gone through what you have. Just do not GOOGLE!
That’s quite a journey to go on! I’m so glad you’re doing better and on the road to helping ensure you don’t go through something quite so dramatic again.
Being diagnosed with a MPN is a lot to get your head around especially on the back of such a scary time. You’ll have good days and bad days mentally but a positive attitude does wonders. I was also diagnosed (ET CAL-R) at 42 earlier this year and we’re still working through the best treatment programme for me. I’m taking both peg interferon and Hydroxy and find I have little side effects from either. It’s so specialised, each of us are unique so what works for one doesn’t necessarily work for another.
Take good care of yourself and I wish you a speedy recovery.
What a story!! You are lucky to be here. I think you are at the top of the leader boarder regarding the lead up to diagnosis. Even though it’s one we don’t want to be part of. I actually think you’ve been through the worst. Hydroxi is ok to take, although it’s still a daunting prospect for newcomers. In my case I couldn’t wait to take it because I felt so rough. The difference is I’m retired and a lot older.
Hi Wyebird, and thank you for your support. I couldn’t agree more, I am lucky to be here and so very glad to be alive. I have a weird mix of emotions going on, mostly I feel thankful, happy and strangely strong because of it. I now have a much better idea of the trials that life can throw you and I’m not so scared of them as a result. The daily grind of living with an MPN and earning a living is something that worries me still, but life goes on and I’ll cope.
Hi, Joe, so sorry to hear about your terrible ordeal. I was diagnosed in 2008 with ET Jak2 when I went to my GP because of constant headaches. There has been much research into mpns and various treatments. Finding an mpn specialist is the way to go. I wish you the best in your new journey.
I can’t help thinking that my GP’s could have diagnosed me in 2013, as I also had constant headaches for best part of 6 months. The doctor put it down to stress at the time.
It’s very possible. My GP did some blood work and my platelets were almost 600,000. He then referred me to a hematologist who did a bone marrow biopsy and that’s when I found out about my ET. I was put on hydroxyurea and my headaches went away. Unfortunately my disease has progressed and I have a new hematologist who has told me I will probably need a bone marrow transplant in the next 2-5 years.
Thank you. This site has been very helpful to me. Several people on this site encouraged me to see an mpn specialist when I started feeling worse this year. I'm so glad I did. I feel very confident with my new doctor no matter what the future may bring.
Please continue to keep us posted. We are here for you.
Sorry to hear that you have had such a rough go of it. Your situation is definitely one of the more serious adverse events that can occur as a result of JAK2+ PV. With a mutant allele burden of only 24%, a milder course of the MPN would be more common. I would wonder about the non-driver mutations and whether they are playing a role in the symptoms you are having. There is some research on the role these other mutations play, but not everyone is up to date on this. Examples include PV – ASXL1, SRSF2, IDH2, TET2 ET – SH2B3, IDH2, SF3B1, U2AF1, EZH2, TP53. I would suggest discussing this with the treatment team to see what they think.
While chemo for cytoreduction is not indicated for a low-risk case in your age group, you are clearly high-risk. If I was in your shoes, I would definitely opt for chemo. I would encourage you to explore all of the chemo options. Many docs prefer to use peg-interferon or Ruxolitinib (Jakavi) for a patient your age. Hydroxycarbamide (aka hydroxyurea) is tolerated by many, but not by all people. Per the NIH "hydroxyurea is a highly toxic drug with a low therapeutic index." It is fairly common for people to experience toxic effects since some level of toxicity is to be expected to gain the desired benefits of this medication. Having said that, ALL of the chemotherapies come with risks and benefits. You will need to pick the approach that offers max befit for you with the lowest level of risks/adverse effects. Just be sure to understand all of your options - how each of the medications work and what is the best match for your profile.
Please keep in touch here in this forum. We will all be rooting for you!
Thank you for your message, it contains so much useful information and gives me something to inform my future questions with. I’ll certainly investigate all that you’ve talked about. I wish you all the very best too.
Welcome Jo, you’ve been through so much but you’re in the right place now to get all the support you need from your new family! Kindest regards Aime xx😻😻
Hi Joe. You have already been through a lot. Give yourself time to take it all in and let things settle. I was diagnosed aged 46 last year after a stroke. The people on this site are wonderful and answer any questions. I’m on hydroxy and don’t worry about it. My mum has been on it for 20 years or so and is fine. Are you actually a cabinet maker? I am sure having such a talent and hobby can help you focus on the good things in life. Jacquie x
Hi Jacque. I am a cabinet maker, or maybe woodworker is more accurate as it covers all the bases. I do carpentry, joinery, architectural restoration and furniture. Pretty much anything to do with wood really. I have been advised to stop anything that includes heavy lifting unfortunately and at the moment I’m really unsure where that leaves me. I need to find a new direction, or at least aim my skills at smaller work.
Wow! What a story. So sorry for all you've been through but you are here thank goodness. It's fascinating how these diseases present so differently in different people. And how different their paths are. I hope yours responds well to treatment.
You have definitely come to the right place... We all have our stories to reveal about what being diagnosed, and of the actual lived reality of having an MPN means, and how it can impact upon our lives, in one way or another ...
From what you have described, it is sounding as though you might have been diagnosed as Essential Thrombocythaemia (ET), but you haven't said so as yet. However, rising Platelets might indicate that possibility etc...
One of the greatest pitfalls of having an extremely rare form of blood cancer, is the accompanying level of ignorance that is too often displayed generally by the medical fraternity...
Joe, my name is Steve, and I am Sydney-based and I have another MPN FORUM their called MATES. Recently, I made a Post there of a group of MPN patients in the States all talking about what it can be like to suffer from an Myeloproliferative Neoplasm (MPN), it goes for just over Six (6) hours, so I suggest that you break it down over shorter periods:
While gaining such a diagnosis can be overwhelming in the first instance, once we we learn more about our MPN, many of us learn that we can still carry on and live a mostly normal style of life, with a few modifications to our lifestyles etc...
Like you, I found that this diagnosis did create much retrospective reflection in me, it also showed me that I was very lucky to have been diagnosed by accident when I was... For like yourself, I too am lucky to still be here ...
Welcome Joe, and know that the good people here are very knowledgeable about their MPNs, and ever empathetic towards helping each other come to terms with this new adventure...
Hi Steve, it’s good to hear from you and I thank you for your insight and pointing me in the direction of MATES, I’ll definitely check that out. The good will and knowledge that I’ve already found in this group is incredibly empowering and means so much to me.
Wow what a year you've had but well done you and the hospital for getting you through it. Glad things have calmed down a bit and you are steady on the warfarin etc. If you do end up having to go on the hydroxy don't panic as it is usually well tolerated and pretty good at sorting the bloods. I'm your age and have PV and have done 18 months on the hydroxy. Wishing you all the very best with your results etc at your next appointment and keep us posted.
Sounds like you’ve really been through it. All I can say, having been diagnosed ET earlier in the year, is that it can take a while for the medical staff to get your meds’ right. Hopefully in a short while, all being well, you’ll have your numbers in line and be able to move on with things.
I’ve found the members on this group fantastic and I think we can all help each other by sharing our experiences.
Thank you for your reply, it’s much appreciated. I am finding that this group has such a strong generosity of spirit. I am very grateful to be a part of it now and wish you all the best too.
My story began similar to yours and I tried to go through the motions of GP and general cancer treatment centers with no real success. It wasn't until I saw a true MPN specialist that I actually began specific treatment for PV. I would suggest seeing a Heme Onc that specializes in MPNs, and I would say definitely get a bone marrow biopsy. It is not perfect, as most things aren't with MPNs, but it will give you a much better picture of your prognosis and may offer you some comfort by gaining a better understanding of where you stand. If you are here in the states there are quite a few specialists that could help you and many other options than just HU. I just don't have any knowledge about other areas of the world.
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