MDS diagnosis with DDX41 Germline and Somatic

Hi @asarnesejr, From what I’m understanding, your doctor is recommending a Allogenic stem cell transplant (SCT) or called a bone marrow transplant BMT)to treat your MDS which may be progressing.
With an allogenic transplant, you’d be receiving stem cells from a donor, essential getting yourself a new immune system with the goal of preventing further proliferation of the MDS. It does come with risks but many of us have gone through this process for AML, MDS or other blood cancers and have been given a second chance at life with this amazing gift

The one thing I would like to mention, from my understanding from a discussion with my transplant doctor, a SCT may not always be the appropriate treatment for the DDX41 variant; It’s uncommon with limited studies. So it’s highly important to have a consultation with a hematologist oncologist who has expertise in this. It might be worth a 2nd opinion.

I’m posting links below from two fellow members who also have the same DDX41 mutation regarding the potential for a SCT.
They were both seen by a specialist at Mayo Rochester.

The entire discussion is here: Does anyone else have AML with ddx41 genetic mutation?
Does anyone https://connect.mayoclinic.org/discussion/aml-with-ddx41-mutation-anybody-else-in-the-same-boat/

From these conversations with @fortuitous https://connect.mayoclinic.org/comment/1089183/

@sherbs https://connect.mayoclinic.org/comment/1218733/

If you are able to go ahead with the SCT, I’m here along with many others who have gone this path. We’ll help guide you along. There is a lengthy recovery time…being slow and steady. But there is life after the transplant! In June I’ll be celebrating my 7th re-birthday with a BMT. So try not to live in fear…instead, look forward to a future!
Do you live near your transplant center? Is this a larger teaching/research hospital?

I believe I've advised this before and I'll advise it again...

Get an appointment with Mayo ASAP and get their recommendation. Stop screwing around.

As Lori said, DDX41 isn't something that is all that familiar to most Hem/Onc. DDX41 is complicated and encompasses a wide variety of different mutations. Some of those mutations warrant moving quickly to BMT, other variations do not.

On the advice of Mayo, I found that my particular variety of DDX41 mutation allows me to postpone BMT for now. Your case may be similar, or may be different. My original hem/onc wanted to rush me to transplant ASAP which didn't sit well with me or with the research I was able to do on my own. I'm very, very thankful that I went to Mayo for a second opinion and can't stress highly enough how important that is.

Before you do anything else, gather as much information as you can from the most knowledgeable people in this area (Mayo). The more information you have, I think the less helpless and frightened you'll feel.

It is likely that you and I both have a BMT in our future at some point. It's really just a question of 'if' you choose that path, and 'when' your body is at that crossroads. However, there is much to consider and having knowledge makes it easier to know what the right decisions might be.

-sherbs

@loribmt I am currently dealing with Penn Medicine in Philadelphia. It is about a 2-hour drive to get there from our home.

@asarnesejr @asarnesejr I wanted to make sure you’ve seen the reply from @sherbs regarding their experience with the DDX41 mutation and having a SCT. . Here is their reply: https://connect.mayoclinic.org/comment/1476612/

Because you have time before requiring the SCT and it is a procedure to consider carefully, it’s not a bad idea to get a 2nd opinion in cases that aren’t cut and dried.
If you’re interested in a 2nd opinion from Mayo here is a link to get you started. http://mayocl.in/1mtmR63
This may not necessarily mean a trip to the clinic but the possibility a tele-conference with one of the specialists.

As for the procedure and recovery for the transplant it can vary per person. I was 65 at the time of my bone marrow transplant for acute myeloid leukemia. Age can be a consideration but at 61, if warranted you’re still considered young enough for a transplant. I personally know patients who were in their middle 70s, now into their 80s and still doing well, active and enjoying life. However, before doctors consider a transplant other factors come into play, including age, co-morbidities, whether the patient is healthy enough to withstand the rigors of the pre-conditioning and transplant itself and mental assessment. There is the requirement usually to stay within a 30 minute radius of the facility for around 100 days. So there’s a time commitment and the requirement for a dedicated caregiver. You can read a number of stories, including mine, here:
My bone marrow transplant story; Will you share yours
https://connect.mayoclinic.org/discussion/my-bone-marrow-transplant-bmt-story-will-you-share-yours/
Do you have any specific questions about the transplant? Do you have siblings or children that might qualify as a stem cell donor if needed?

My typo, my current Platelet count is not 192, but 92.

Also, additional data that I thought I should share with you. The MDS doctor I saw at Penn Medicine told me that when my platelet count trends below 50 (currently 92) or my Hemoglobin level goes below 9-10 (currently 14.3) that it is time to perform a stem cell transplant. Her position is that I would have a better outcome if performed before it progresses to AML.

She is not overly concerned about my blast count with the DDX41 mutation, or my WBC and ANC level. She feels my body has compensated for those since I rarely catch a cold.

Do her views seem legit?

From the limited past data that I've kept, she feels that my numbers started going down in 2011 when my platelet count was at low normal of 153. And again at 120 in 2018. Most of my blood work never included a CBC.

Update: and better understanding (i didn't want to start a new post)

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?

Good morning, @asarnesejr! Let’s take a walk…I’m a walker and love to chat while doing so. By the way, just to let you know I had a bone marrow (stem cell) transplant (BMT) almost 7 years ago. Tomorrow, will be 7 years to the day that I was diagnosed, rather abruptly with AML, with about a day left on the planet. 4 months later I had my BMT and was 65 at the time.

Hopefully I can reassure you that you have time to make these decisions because you have a great team of blood/genetic specialists who are monitoring your health…which is a huge advantage for you. With follow-up labs your doctors will look for trends (in either direction) in your blood numbers which can help detect any progression. They’re holding stable now so that’s very encouraging. AML isn’t subtle.

You should be able to take comfort in the fact that you’ve been diagnosed with low grade MDS. That would indicate it has a lower potential for progression to AML. But even if it does, you have treatment options ahead of you that may or may not include a stem cell transplant.

Now, as to the stem cell transplant. You are 61. That’s still young in the world of stem cell transplants for adults. I was 65 and I have personally mentored patients (for my local hemo/oncol) who were 75 and had just completed their chemo for AML. These two guys are now in their 80s and still doing great! I recently turned 72 a couple weeks ago, I’m super active, still walk about 7 miles daily, exercise, have many hobbies, travel, etc. My 2nd chance at life has me “living life like they left the gate open”.

We have countless stories in Connect with other members who are, let’s say, in our golden years with amazing post transplant stories! @g4c had AML and he is out there, two years post transplant, hiking to some of the higher mountain peaks in the US! We have marathon runners/bikers, golfers, I have another acquaintance who is a triathlon participant. Life doesn’t have to end with a diagnosis. Sometimes it’s only the beginning of new life. One where we don’t take a moment for granted.

Right now, you basically have no symptoms but have a diagnosis in a holding pattern. Like you’re waiting for the other shoe to drop, right? Well, other than not taking up knife juggling right now with the lower platelet level, there’s no point in worrying over something you can’t control. IF things change, THEN you will deal with them at that time. To dwell on a ‘what if’ scenario will just result in stress you don’t need! And that, my friend is a waste of precious time.

What are you going to do with the 30+ years you have left?