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

Recent diagnosis
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Hi @twohorsepony and thanks for the update as it’s good to hear how you’re getting on.

No one here can give you medical advice or tell you what your numbers mean, but from what your own team has already said it sounds, in context, reassuring. A cold really can knock counts around temporarily, and the fact that your haematologist and Myelodysplastic syndrome ('MDS') specialist are actively consulting each other and keeping a close eye is a good thing. And the 7th isn’t far away.

Living with the ‘waiting and watching’ aspect is understandably unnerving. @paulstass mentioned early on how much working with a cancer psychotherapist helped him with exactly this, not because anything was wrong, but because having some tools to manage the uncertainty makes it easier to sit with. Might it be worth asking your team if they can point you to someone, if you think it would be helpful? I know that I found it incredibly helpful during my own treatment.

As you’re based in the US our Support Line is probably less convenient for you, and there are likely to be differences in the healthcare system, but if you’d ever like to talk things through with someone from our team, you’re very welcome to reach us by email at support@bloodcancer.org.uk.

Take care, and keep us updated,

Ceri - Blood Cancer UK Support Services

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Went today (April 7th) to my Myelodysplastic syndrome ('MDS') specialist to review the results of my genetics test and routine bloodwork. Unfortunately, after 9-weeks the results of the genetics test have not arrived.

However, since my post Disneyworld stomach virus (2nd number), are listed today’s numbers (3rd number):

RBC: 4.04 to 3.48 to now 4.05
Platelets: 92 to 67 to now 83
Hemoglobins: 14.2 to 12.2 to now 14.4

white blood cell: 1.9 to 1.6 to now 2.2
Neutrophils 1.1 to 0.8 to now 1.0
Lymphocytes: 0.7 to 0.7 to now 1.0

For those that have been helping make sense of all this I have been diagnosed with Myelodysplastic syndrome ('MDS') with a ddx41 (R339C) (VAF - 53%) mutation and a somatic missense ddx41 (R525H) (VAF - 11%) variant.

Can anyone help me make sense of all this?

Thank you so much in advance…

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Hi @twohorsepony, sorry to hear that the results of your genetic test haven’t arrived yet. Is your specialist chasing them?

Although I completely understand looking for answers, especially when you’re now having to wait longer for those results, I’m afraid it goes against the Forum’s Terms of Use for anyone here to interperet your results as it is classed as medical advice.

If you’d like to talk to our wonderful @BloodCancerUK_Nurses on the Support Line, they may be able to offer you some broad advice or guidance on what questions you might want to ask your specialist and haem team. Please do feel free to reach out to them (for free) on 0808 2080 888 (option 1) or support@bloodcancer.org.uk.

Of course, the best people to speak to about your results are your team, as they know your case in detail and are familiar with any specifics that might need to be taken into account.

Take care,

Ceri - Blood Cancer UK Support Services

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Very good advice.

I just asked similar questions through the NHS cancer nurses email at my local hospital and got a full answer although I’ve been about 6 months trying to figure out the questions to ask because there seems to be such a wide range of classification for Myelodysplastic syndrome ('MDS')/Myeloproliferative neoplasms ('MPN') combination. They were very helpful and, in my case, the prognosis is quite encouraging

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As an update, today I went to see the Transplant Team at the Hospital. My Myelodysplastic syndrome ('MDS') doctor scheduled it as an informative initial visit. Apparently, this visit is needed, as they are the group that searches the donor database for possible matches. Much information was thrown at me during our 90-minute meeting. Needless to say, I am very overwhelmed by how much my life will change and how much can go wrong during this process. I suppose I always thought that once I get through the long recovery period, and the new stem cells take, I would be able to resume my life with minimal complications.

According to the Transplant Team my IPSS-M score is at -2.3. Even lower if you take into account that my Myelodysplastic syndrome ('MDS') is ddx41 driven and that the IPSS-M scoring system does not take into account ddx41 mutation. However, I was informed that the original paper for the IPSS-M scoring system DID consider the ddx41 mutation as well. They did not know why it had been omitted. They feel that if you consider the ddx41 mutation, my score would be even lower, proposing possible -3.3.

This is all so confusing and upsetting to me. On the one hand they say I’m lucky that I have a ddx41 mutation and that I’m at very low risk. However, on the other hand, they say I will eventually need a Stem cell transplant and that my life will never be the same again. Also, donors are NOT checked for the ddx41 mutation, so I could get the same mutation again, but someone else’s.

They couldn’t speculate as to how slow progressing my Myelodysplastic syndrome ('MDS') is and when I will need a Stem cell transplant. How does one even begin to cope and not think about it while ‘waiting and watching’?

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Hello there @twohorsepony, apologies for not welcoming you to the forum sooner. I’m sorry you had reason to find it here in the first place and how upsetting it’s been. I see we both live with myeloid types of blood cancer and are both in the US, although in my case it’s Polycythaemia vera ('PV') and California rather than Myelodysplastic syndrome ('MDS') and Pennsylvania. Howdy over there!

I see dear @Ceri_BloodCancerUK has pointed you towards Blood Cancer United which is similar to Blood Cancer UK but has more information localised to the US and is also great. They have some useful information about Myelodysplastic syndrome ('MDS') that may be of interest: https://bloodcancerunited.org/blood-cancer/myelodysplastic-syndromes-mds/diagnosis

I wonder, have you checked out BCU’s information and support? Like here they also have blood cancer information specialists who can be emailed and called free Monday to Friday 9 am to 9 pm (Eastern Time) on 1-800-955-4572. BCU hold free conferences around the US which are very informative and we get to meet other folks there also living with similar conditions and hear from experts at lectures. Highly recommended, you can read more here: https://bloodcancerunited.org/resources/educational-resources/blood-cancer-conferences

BCU also has a community like this forum where there’s lots of interesting blood cancer-related information and other survivors sharing experiences, you’ll find that here: https://bloodcancerunited.org/resources/patients/community

Have to say, looking at the various test results and gene mutations you’ve shared I’m not surprised it’s confusing you—it is very confusing! That’s why we need experts with these complex diseases. I’m 3 years in from my diagnosis and would say it takes time but following along your blood test results each time will help them become more familiar. I’m definitely still learning.

From my non-medical understanding, at a cellular level the BMBs you’ve had will show any transformation of disease, maybe you could compare results from those? These questions are best asked of your specialist who did the testing, they’ll explain why they did them, what they found, and what to expect going forwards.

If my haematologist explains something new or beyond my understanding I just ask him to explain in plainer language! I also ask my nurses questions about my test results when I see them as they often have great practical tips, maybe yours too when you pop in for CBCs?

As for your final very poignant question @twohorsepony, it’s really tough living with something in the long-term that is also low-risk. The Polycythaemia vera ('PV') I live with is considered a chronic type of blood cancer, is incurable, and currently has no way to gain remission. It could be worse, it could be better, and of course I’d love not to have it at all. Acknowledging the reality of it does help though, I hope it does for you sharing these difficulties here.

Something I practice, but have yet to perfect, is reassuring myself that despite the slow dread of having a chronic, slowly developing illness it is less risky than an acute, fast-changing one. Polycythaemia vera ('PV') can in some cases change into Acute myeloid leukaemia ('AML') so I can likely empathise with a similar sense of threat to you of watching and waiting. Isn’t it vile?!

I try to see the slowness of the disease progression as offering more time for further treatments to be found. It helps me at least, but is easier said than done. You have options for further treatments so they are something to research with your doctors. Don’t forget, stay away from Dr Google and AI, they do not know your unique health history.

Do let us know how you get on and do consider giving Blood Cancer United a call, I bet they have resources available for you too @twohorsepony.

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Oh and just to add @twohorsepony look at all these great responses from others living with and understanding the complexities of Myelodysplastic syndrome ('MDS'). I might be tempted to reach out to more people around the forum by using the search box at the top or Related Topics below. If you use an @ before a member’s username then they should get a notification.

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Hi @twohorsepony

The initial appointment with Transplant team is as you say exhausting.

I can remember feeling absolutely exhausted after it.

I had about 15 months between that first appointment and transplant

My strategy was just to take things a day at a time and enjoy life as much as possible.

We all handle things differently and find what works for you would be my advice

Take care

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Duncan - May I ask how your transplant went, how long before you felt that you were getting back to your normal life?

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Hi @twohorsepony

I had a donor transplant rather than using my own cells as my primary diagnosis was Myelofibrosis.

Transplant was challenging for sure. I had a few setbacks along the way and ended up in hospital longer than expected.

Recovery process tough too. It probably took about 3 months after transplant to get to a stage where walking for a bit became normal.
It probably took around 6 months to get to a point where I was walking a fair distance and exercising regularly.

Life changes after diagnosis in my experience so probably more a case of a new normal.

Hope that helps

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The transplant team did not discuss other options besides stem cell transplant. Honestly, it was 90 minutes of everything that will probably go wrong with the Stem cell transplant. They told me they perform 150 Stem cell transplant a year and I’d have a 50% chance of survival. Besides the chemo killing me, the stem cells may not take, I may have GVHT. Even if the Stem cell transplant team considers it a success, I could end up on kidney dialysis, liver damage, heart damage (or attack), retina damage, and always more susceptible to colds and recovery from such… just to name a few I could remember.

They really did not say anything positive about the Stem cell transplant process or outcome. My wife was with me as a second set of ears.

Is this the reality of it? That once my numbers go low the Stem cell transplant is prolonging my death sentence. Or is this the doom and gloom speech they have to give to cover themselves?

I’m even more scared than I was initially, and did not sleep much last night

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Hello again @twohorsepony, I’m sorry to read that your sleep has been affected by your recent appointment on top of how upsetting it has all been.

If I may be so bold, if this sort of healthcare concern wasn’t scary then that would be stranger still. It is scary stuff dealing with a cancer diagnosis. It’s great that your wife was also at your appointment, have you compared notes to see what you each heard? That might help take the edge off some of the more doomy aspects.

As @Ceri_BloodCancerUK and others have said, forum members can’t give medical advice like speaking for how positive the information in your recent appointment was. Your questions are so important to ask of the doctors treating you as they have all your test results and are specialists in blood disorders.

It’s also worth bearing in mind that the NHS in Britain, which provides most people with their blood cancer treatments, is not the same as the many healthcare systems around the US. For example, the cost of any treatment is not usually a consideration for Brits as most healthcare is free to patients. My experiences of healthcare in the US suggest that some treatments might not be offered due to their cost to the provider, which may factor into why your doctors seemed “doom and gloom” to you.

I’d really suggest talking this through with Blood Cancer United information specialists as they will know what resources are available to you in your region and covered by your healthcare. They’ll be best placed to suggest resources you can access in your time zone. Blood Cancer United’s free number is 1-800-955-4572.