Connect
← Return to MDS diagnosis with DDX41 Germline and Somatic
Discussion
MDS diagnosis with DDX41 Germline and Somatic
Blood Cancers & Disorders | Last Active: May 6 9:50am | Replies (32)Comment receiving replies
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?
Replies to "Update: and better understanding (i didn't want to start a new post) Hello to everyone. I..."
Connect
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?