Recently diagnosed with MDS with a DDX41 variant, need support from others and shared stories

Recent diagnosis
, ,
1

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 don’t 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 won’t 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?

1 Like
2

Hello @twohorsepony, and welcome to the Forum - though of course I’m sorry about the diagnosis and the fear you’re 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 ‘Myelodysplastic syndromes (MDS) prognosis’. Also if you don’t 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 we’re waiting for other community members to hopefully reply, I’ve also had a look for some previous forum discussions that might be helpful to you (you can do the same via the ‘Related’ feature at the bottom of the page, or just by using the search bar at the top). There are quite a few members who’ve been where you are now - living with Myelodysplastic syndrome (MDS) and naturally worrying about the future:

  1. Being diagnosed with MDS - someone at 42 facing transplant and feeling scared
  2. 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 they’re best placed to help you understand what’s happening. Could you ask them to help you make sense of the different opinions you’ve been given?

If you’d 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

3 Likes
3

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 → 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 ‘blowing up’ as one Myelodysplastic syndrome (Myelodysplastic syndrome (Myelodysplastic syndrome (MDS))) patient described it to me. IT will settle, but I’ve been there and right now it feels like it won’t.
  • taking bits of advice from others who have walked the road before me - one of the best things I heard was to try and ‘put it in a box’ 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! I’m walking as much as you! And my Hb is the best it has been in 2 years so can make it up hills again!

I’m 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

4 Likes
4

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. I’m 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 wouldn’t have known anything was wrong with me if it weren’t 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!

That’s 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 don’t 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

1 Like
5

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?

1 Like
6

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.

3 Likes
7

Hi @twohorsepony

It’s a really worrying time for you but you’re 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 I’m 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?

2 Likes
8

Just to give you an update on Tuesday’s visit with my primary hematologist. I outlined for him what I told you of the discrepancy between up to 10 years, as he suggests, ‘not months but years’ as my Myelodysplastic syndrome ('MDS') hematologist suggests, and 1 maybe 2 years if you’re 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 hasn’t 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 wasn’t 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.

1 Like
9

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.It’s 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 it’s worth, I don’t think this recent observation means you have “used up” the 10 years that one specialist suggested. I’m 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 didn’t 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.

2 Likes
10

Hi @twohorsepony

I’m 58 and have a very similar case, but at a more advanced stage. I’m now in Acute myeloid leukaemia ('AML') phase (was diagnosed with it 10+ month ago. Similar to you, I have both germline and somatic (also R525H) DDX41 mutations + couple other somatic ones. Similar to you, I have myeloid blood sell lineages affected. And similarly, it is very indolent and, to these days, I have no any symptoms and continue my life almost as BAU (including work, sport and travel) - other than regular doctor visits and blood checks. However, given my more advanced stage of the disease, I now consider to start treatment in the next few months.

Bad news is that it will develop into Acute myeloid leukaemia ('AML') at some point and it will require HSCT from an unrelated donor, but you are lucky to have germline DDX41 subtype of Myelodysplastic syndrome ('MDS')/Acute myeloid leukaemia ('AML') as it typically takes years to develop - rather than weeks or months for other Leukamea cases. So, your haematologist is right about the indolent nature, but not sure about 10 years. The key consideration here is your white blood cell levels - something to watch closely. You have a slightly better level of neutrophils than me (and still sufficient to protect you against infections), but slightly lower level of platelets (but still OK). I’m not a doctor, but this level, while no urgency or panic, equally does not suggest another 10 years wait and watch.

Good news is that the science is now developing very quickly with more treatments developed every year. There is unfortunately no targeted DDX41 treatments yet, but there are some more traditional ones that have shown good record. If blood readings continue to remain stable and no additional mutations acquired, you might be able to wait for couple more years - in time for even more efficient drugs.

What chemo treatment does your doctor recommends for you?

1 Like
11

My Myelodysplastic syndrome ('MDS') Hematologist told me she wasn’t going to treat me with chemo. As soon as my platelet counts went below 50 or my hemoglobin went between 9 and 10, she would send me for a Stem cell transplant.

1 Like
12

Interesting. This is not very common based on my readings - my doctor though did mention about such instances when I enquired on a similar topic recently. Normally, either IC or RIC (and there are ones with good track record for DDX41) is administered first and then, right after the CR/CRi, it is followed by HSCT. If MRD is not achieved, then doctors often do a second round or different treatment.

What was the argument in favour of skipping the chemo? Which hospital are you treated at?

Anyway, given very indolent nature of your Myelodysplastic syndrome ('MDS'), you are likely to have some time before reaching more severe levels in platelets, neutrophils or haemoglobin that would require treatment.

1 Like
13

I’m being treated at Penn Medicine in Philadelphia, PA. I should point out that I have not met with the transplant team. Perhaps my Myelodysplastic syndrome ('MDS') doctor meant that once those numbers hit those levels that she wants to proceed with the Stem cell transplant (which maybe includes chemo as part of the process).

1 Like
14

Hematologist encouraged me to live my life as normal as possible. Platelets at 92, white blood cell at 1.9, Hemoglobin at 14.2, he has told me to go to Disney World and enjoy myself. I don’t understand why since 6 months ago my numbers were the same and he told me not to be around crowds.

1 Like
15

Hi @twohorsepony, thanks for keeping us updated, and that’s an understandable thing to feel puzzled by.

I would say it’s definitely worth going back to your haematologist with exactly the question you’ve raised here. Most clinicians are happy to explain their reasoning when a patient asks.

In the meantime, as you’re in the US, the MDS Foundation may be a really valuable resource, as they’re dedicated specifically to Myelodysplastic syndrome ('MDS'), offer patient support, and can connect you with Myelodysplastic syndrome ('MDS') specialists. Blood Cancer United also has good Myelodysplastic syndrome ('MDS') information and a free helpline if you ever want to talk things through. We also have information about Myelodysplastic syndrome ('MDS') on our own website here, though it’s written with the UK healthcare system in mind.

Hope you get some clarity soon, and enjoy Disney if you do go!

Take care,

Ceri - Blood Cancer UK Support Services

3 Likes
16

Hiya,

I had a stem cell transplant 15 months ago and I’m living just about a normal life.

I did get GvDHD in my liver but I wouldn’t know it as I have no symptoms and it’s being managed by medication.

You won’t even know you’ve had a transplant as its just drip fed into you,a bit of a non event really. Obviously you’ll be in hospital for a while,3 months in my case,but all things being well you should recover.

Stay strong.

2 Likes
17

Hi Ceri -

I did follow my Hematologists advice and went down to Disneyworld for 6-days, returning two days ago. All went well for the first 5 1/2 days, till I got sick. Not sure exactly happened. Normal temperatures in Orlando should be in the mid 70’s this time of year, however, a heat wave came through and Orlando broke 60 year old records with temperatures reaching 95 degrees daily.

Midday on day 5, I went on an intense ride at EPCOT which immediately made both my wife and me nauseous. After leaving the ride, we had to take the Disney Skyliner (cable car) back to the hotel. This made me even more nauseous as it swings and sways in the breeze. Also, it stops often for families with strollers to board, leaving us in a glass cabin with no air flow.

Upon, returning to the hotel, we went to the cafeteria to get lunch. Choices are limited, and I got a grilled chicken sandwich with some sort of spicy cream sauce and french fries (everything in Disney comes with french fries). After eating, we went back to the room for our afternoon nap.

After about 15 minutes, I became very nauseous, and got the chills even though my legs felt warm. I did not have a temperature. I did not throw up. I did however, lay in bed for the next 24 hours exhausted and tired. By that time the nausea had subsided, but I developed diarrhea.

After returning home on Wednesday evening, my appetite was back, though I still had lingering diarrhea.

As of today, I feel better.

I guess my question is if this happened to me because of my Myelodysplastic syndrome ('MDS'), or heat exhaustion, or food poisining. Remember, prior to noon on day 5 I felt perfect, it wasn’t until going on that ride that started this downhill spiral.

Does anyone have any helpful thoughts or opinions to help calm my anxiety from taking control.

I have my 2-month appointment with my hematologist along with routine bloodwork this coming Monday.

Thank you all for your support thus far….

2 Likes
18

Hi @twohorsepony Just to add my experiences of going to Disneyworld about 5 yrs before my blood cancer diagnosis if case it is of any interest.

My son and I went on as many rides as we could in could.

Then in the evening I went to a business dinner with my husband. I was starting to feel rather dizzy, feint and sick before we went. By the time we got half way through the meal I have never felt so dizzy, feint and sick in all my life. I remember somehow getting myself to the loo and just sitting down and wanting to be beamed back to the hotel. Somehow I got through the evening.The weather was hot but not excessively. My 15 yr old son was fine and enjoyed an evening of TV, burger and chips via room service.

For me it is the disorientation.

Really look after yourself and let us know how you are doing

3 Likes
19

Sorry to hear that you had some challenges towards the end of your trip @twohorsepony

I’ve found that when I have some out of the routine days I really notice it and take time to recover.

Maybe the 6 days was just too much especially with scary rides thrown in.

@Erica sharing her post seems to reinforce fact that it can be challenging to deal with a big change to our routine.

Hopefully feel better now.

In terms of anxiety maybe just a case of taking things easy for a bit and not over thinking about what happened.

3 Likes
20

Went for my bi-monthly visit to my hematologist along with routine bloodwork. My platelets went down from 92 to 67. My hemoglobin went down from 14.2 down to 12.2. My white blood cell went down from 1.9 to 1.6. My Neutrophils went down from 1.1 to 0.8.

He consulted with my Myelodysplastic syndrome ('MDS') specialist. Their conclusion is that I got a cold while on vacation at Disneyworld and it is reasonable that my numbers went down some. They continue to agree that there will be fluctuations in these numbers, and that I shouldn’t spend time worrying about this latest lab result.

I go back to the Myelodysplastic syndrome ('MDS') specialist on 4/7 to review my genetic profile results along with another set of routine bloodwork (I wonder if the numbers will trend back to their previous values?).

My hematologist concluded by saying that this shows that I can still continue to lead a normal life, and that getting a cold on vacation is not the end of the world.

Obviously, those that have been following my story know that I am a very anxious and worst-case scenario type of personality, always projecting out with negative extremes.

Can anyone help with their thoughts on all of this?

1 Like