Hello to everyone. I am a 61 year old white male. During a routine blood test CBC it was discovered that my white blood cell, Platelets, and B12 levels were low. After weekly B12 injections, 2 bone marrow biopsies, I was diagnosed with the following:
Low grade Myelodysplastic syndrome (MDS) with a germline DDX41 (R339C) (53%) and somatic DDX41 (R545H) (11%) variant. Blast count of 5-7. white blood cell (1.9), Platelets (92), Neutrophil (1.1), Hemoglobin (14.2) and B12 (153). My numbers have remained like this for the past 6-months. I feel fine and donât have any symptoms.
I am beyond scared that this is a disease that will likely progress to Acute myeloid leukaemia (AML) and require a stem cell transplant. My hematologist (is my point person) believes that my variant is indolent and that my numbers could remain the same up to even 10 years.
My Myelodysplastic syndrome (MDS) specialist also believes this variant is indolent in nature and is looking at a stem cell transplant in terms of years not months.
However, my Gene specialist believes that because my white blood cell and Platelets are as low as they are, I am realistically looking at about a 1 to 2 year period before needing a Stem cell transplant.
I have convinced myself that I only have a couple years to live and that I wonât survive a Stem cell transplant. Can anyone help me come to terms with all of this, or help me put all of this into perspective?
Hello @twohorsepony, and welcome to the Forum - though of course Iâm sorry about the diagnosis and the fear youâre carrying right now. Having different specialists giving you different timelines must be incredibly confusing and worrying on top of everything else.
The way Myelodysplastic syndrome (MDS) develops over time varies a lot from person to person, and there are a number of varying factors that come in toplay. You can read more about this here on our webpage âMyelodysplastic syndromes (MDS) prognosisâ. Also if you donât yet have our Myelodysplastic syndrome (MDS) booklet you can order it from our website here (for free): Myelodysplastic syndromes (MDS) booklet | Blood Cancer UK Shop
Whilst weâre waiting for other community members to hopefully reply, Iâve also had a look for some previous forum discussions that might be helpful to you (you can do the same via the âRelatedâ feature at the bottom of the page, or just by using the search bar at the top). There are quite a few members whoâve been where you are now - living with Myelodysplastic syndrome (MDS) and naturally worrying about the future:
- Being diagnosed with MDS - someone at 42 facing transplant and feeling scared
- New MDS diagnosis 45yo - about low risk Myelodysplastic syndrome (MDS) and anxiety about transplant
It sounds like you perhaps need to have another conversation with your team about why there are different views on the potential treatment timeline? Your medical team knows you best and sees you most regularly, so theyâre best placed to help you understand whatâs happening. Could you ask them to help you make sense of the different opinions youâve been given?
If youâd like to talk this through with our clinicla nurses before approaching your own team, please do reach out to them on 0808 2080 888 or support@bloodcancer.org.uk.
Take care,
Ceri - Blood Cancer UK Support Services
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Hi @twohorsepony @Ceri_BloodCancerUK
I am very sorry to hear about your recent diagnosis and the shock and worry you are experiencing.
My name is Paul and I was the then 45 year old that reached out with a similar post 2 years ago - this one that Ceri mentions â New Myelodysplastic syndrome (MDS) Diagnosis 45 yo
So I can understand how you are feeling right now. As Ceri mentions, every disease and every person is different and you can become overwhelmed with all the information and become frightened with some of the horror stories.
Please feel free to reach out to me via DM also if I can be of any help in any way.
Here are some of the things that I think helped me at the time in case any resonate with you:
- reaching out, as you are doing, to communities such as this one - I received so much help and support from this community and all the volunteers and staff
- having a good team you have trust in - sounds like you have that
- re the uncertainty of everything - I reluctantly engaged with a Cancer Psychotherapist for this and completed 6 or 7 sessions, this really helped me and gave me a space to process and reflect, and break down a bit (as I was trying to stay strong the rest of the time for my wife and small kids). I found this, along with time and support from family, friends, communities such as this and looking after my mental and physical health got me through the initial shock and my life âblowing upâ as one Myelodysplastic syndrome (Myelodysplastic syndrome (Myelodysplastic syndrome (MDS))) patient described it to me. IT will settle, but Iâve been there and right now it feels like it wonât.
- taking bits of advice from others who have walked the road before me - one of the best things I heard was to try and âput it in a boxâ and open up the box a little every now and again - easier said than done and depends on personalities, but for me the counselling really helped with this.
- Keep up the walking!
My own journey has progressed since my post this time 2 years ago, and today I am 100 days post transplant! Iâm walking as much as you! And my Hb is the best it has been in 2 years so can make it up hills again!
Iâm a bit more Carpe Diem than I was and have a different blood group and DNA, but pretty much the same old Paul! Fingers crossed my 100 day biopsy will be all good.
Happy to share any information on my journey with you / all, with the qualification that every disease, diagnosis and patient is different as Ceri says - important to remember that I think.
Best of luck, welcome to the forum, keep the head up as much as you can,
thinking of you and others,
take care,
Paul
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Hi @twohorsepony
So sorry to hear of your recent diagnosis. I do not have this mutation myself but I did know a lady who had the DDX41 mutation and I have to say that her experience has affected me greatly. Nobody can help you decide what to do regarding the stem cell transplant - except I would say that if your haematology specialists are telling you that you have an indolent type, it is probably a good idea to listen to that prognosis. Iâm aware that some DDX41 mutations do have an indolent course.I got a good AI explanation today!
I have experience of being diagnosed with Chronic myelomonocytic leukaemia (CMML) which was once classified as a sub-type of Myelodysplastic syndrome (MDS). Literature I read in 2009 stated that median survival of this disease was 12-18 months and a stem cell transplant was in the frame. Siblings tested for matches etc! Very depressing but I decided to continue with active monitoring as, despite low white cell and platelet counts, I actually felt well and wouldnât have known anything was wrong with me if it werenât for the blood tests! Interestingly, when I was first diagnosed my consultant said that he thought mine was an indolent type and, sure enough, here I am 17 1/2 years later, still not having had any treatment and with stable blood counts!
Thatâs my story but let me go onto the lady with the DDX41 mutation. She first came to the Myelodysplastic syndrome (MDS) support group I ran in September 2019. In a terrible state as she was only in her 50s and had been diagnosed with high-risk Myelodysplastic syndrome (MDS) - despite her feeling fit and healthy. She agreed to immediately start a clinical trial. In the first round of treatment she had neutropenic sepsis twice and was in RESUS. The same happened with the next round of chemo - meaning she was pretty much permanently in hospital for several months from September to December. After Christmas it was decided to go ahead with a stem cell transplant which she had in around February - just before Covid struck! Even though the transplant was technically a success and she was 100% donor, she remained in hospital for many months with untreatable Graft-versus-host-disease of the gut which made her life very miserable with feeding issues, vomiting and diarrhoea. Ultimately, they sent her home in July and she died 10 days later.
I often wonder how many more months (or longer?) of a good quality life she might have had if she had not started on that trial which ultimately led to early hospitalisations and the Stem cell transplant having to be carried out earlier than it might have been needed and when she might have been in a fitter state than after many months of illness through the trial chemotherapy?
I donât write this easily or intend to alarm you but until you know how your particular disease is progressing, might it be better to enjoy the good health you have now until the point where the benefits of transplant might outweigh the risks? Stem cell transplant specialists are experienced in helping you know when or if that point is reached.
Good tips have been given about dealing with small bits of worry at a time but I know myself how easy it can be to catastrophise! Some hospitals offer counselling after a cancer diagnosis and others (men particularly!) have said it helps them and is not a sign of not coping or weakness. You need support in this life changing diagnosis.
Take care
Hi @twohorsepony
Sorry for long post previously but as a PS I presume you are discussing genetic screening for family members re the germ line mutation?
I went this week to have a skin punch biopsy done to determine if the ddx41 (r339c) (vaf 53%) is germline or somatic. The doctors feel that anytime there is a 50% mutation, it came from a parent and therefore hereditary. The results of this test will take approximately 6-8 weeks.
However, due to emotional anxiety, I made an appointment for next Tuesday to meet with my monitoring Hematologist to try and get clarity as to why he feels I could go up to 10 years without intervention, while the Genetics Doctor is saying 1 year.
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Hi @twohorsepony
Itâs a really worrying time for you but youâre doing the right thing to have a specific check with your haematology consultant. Presume you are aware that you can ask for an additional opinion from another haematology specialist so it might be worth seeking out a referral from either your GP or current haematologist - if you are not already at a specialist centre? Though Iâm not sure if you are UK based? But the Myelodysplastic syndrome (MDS) Foundation website has an international list of specialist Myelodysplastic syndrome (MDS) clinicians. Centers of Excellence | MDS Foundation
Personally, I would want to monitor how my disease is behaving for a while before jumping into a very challenging treatment which does not have a guaranteed successful outcome?
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Just to give you an update on Tuesdayâs visit with my primary hematologist. I outlined for him what I told you of the discrepancy between up to 10 years, as he suggests, ânot months but yearsâ as my Myelodysplastic syndrome ('MDS') hematologist suggests, and 1 maybe 2 years if youâre lucky as the genetics doctor told me.
He is going to reach out to the Myelodysplastic syndrome ('MDS') doctor and the genetic doctor for clarification to their diagnosis. He told me he feels that my numbers have been stable for the last 6-months, my MCV hasnât increased, I have no symptoms, I feel and look great. He says that looking at me overall, that my body has adapted to the lower numbers over the last 10 to 14 years.
I had taken with me a printout of my last 15 years of bloodwork. The lab has a feature where it graphs your numbers over time to show any trends. I copied and pasted these small graphs in a MS Word document, to show him how my numbers have been steadily declining since 2012.
I asked him point blank, was this decline the 10 years you are talking about. Did I already use them up? He said that he did not feel that was the case.
Since this appointment was initiated by me, there wasnât any new blood work involved. I feel I accomplished making him aware of my steady decline over the years, and for him to reach out for clarification from the other two doctors. My next official visit with bloodwork is March 16.
Hi @twohorsepony
Lots of us have looked at historical blood test results and noticed a downward trend over time but nothing rang any alarm bells historically if we were still feeling in good health.Itâs usually only when people start noticing things like fatigue, many frequent infections or easy bruising that they start to ask questions and get tests done.
For what itâs worth, I donât think this recent observation means you have âused upâ the 10 years that one specialist suggested. Iâm pretty sure there were signs of my Chronic myelomonocytic leukaemia ('CMML') for around 5 years before it all kicked off but they were comparatively minor issues -frequent cellulitis on lower legs -and I didnât even see a doctor about them. Prognoses are done from the time of diagnosis regardless of what has happened before. Hopefully the discussion between the 3 of them will soon result in some clarification but, both from my own experience and working with Myelodysplastic syndrome ('MDS') patients in a support group for 13 years, I would caution that these estimates are not set in stone.
Hope the next appointment brings some clarity.
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