MDS diagnosis with DDX41 Germline and Somatic

Good morning, @asarnesejr. It sounds like you and your hematologist had a productive conversation this week. That goes a long way with feeling that you’ve been heard!
Having the spreadsheet with 15 years worth of bloodwork stats is impressive! I’m sure your doctor appreciated your thoroughness! I know my doctor would have been all over that!
Doctors tend to look for trends in blood work and yours shows a slow, downward trend. However, it also allows for a pattern of predictability. From what I’m gathering, nothing is changing rapidly, plodding along at an anticipated rate. These stats are what your hematologist is using for his long term assessment, which is reasonable.

In my opinion with experince with a SCT, the stability in your blood results, plus the fact that you have no symptoms and not on any treatment plan at this time shows there isn’t any urgency in making the decision to rush into a stem cell transplant (SCT). If advisable, with the consensus of your doctors, you might wait a few years until 65. If you do require a SCT at that time, you’re still young enough and you’ll have had another 4 years where maybe you needed no treatment or just started taking medication. You could find that’s all you might need if you’re in a lower risk MDS classification. Also, another consideration, if you wait til 65 you’ll be on Medicare. I was 65 at the time of my SCT and had very little out of pocket expense.

I think right now, you can breathe a little easier. You have time, nothing is immediate. So please, try not to have this be the central focus on your life right now. If I may share this with you…it’s one of my favorite quotes from an unknown source. But it was so impactful in my life when I needed it the most and hopefully it will help you:
Fear does not stop death. It stops life.
And worrying does not take away tomorrow’s troubles.
It takes away today’s peace.

I hope you have a delightful weekend. Please keep me updated my friend. ☺️

Went today (Monday) 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 WBC went down from 1.9 to 1.6. My Neutrophils went down from 1.1 to 0.8.

He consulted with my MDS specialist. Their conclusion is that I got a cold while on vacation at Disneyworld sick the last day in bed with nausea, chills and diarrhea) (last Tuesday) 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 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?

Hi, @asarnesejr Oh dear, nothing like getting ill on your vacation. Well, if I can help you at all, it’s normal for blood values to change when there’s been an illness. The immune system kicks into defense mode when it senses an invader or to a reaction from foods, stress, environment, etc.. There can be large increases in white blood cell production while the illness is in full swing and then they can drop dramatically. It may take a couple weeks for everything to be back to normal.
Most people aren’t even aware of the fluctuations because this is all taking place, unnoticed, within the body.

Those of us who have blood cancers or conditions tend to have frequent labs which can leave us privy to these changes which would otherwise go unnoticed. As an example, for almost 2 months I had labs daily, sometimes twice daily while recovering from my bone marrow transplant. There would be dramatic swings just within a 24 hour period!

The important thing to note is that doctors look for trends. A one-off lab doesn’t usually trigger an alert to them as it would to us patients. The fact that you had both of your doctors conferring and coming to the same conclusion about your labs should give you a level of comfort. To this point you’ve been relatively stable so your doctors aren’t anticipating anything untoward. If they were, you’d be having follow up labs much sooner than your April 7 appointment.
That should be time enough for your immune system to recover and return your labs to normal. ☺️

I hope you’re feeling much improved! Did you have a good vacation otherwise?

@loribmt I did follow my Hematologists advice and went down to Disneyworld for 6-days, returning last Wednesday. All went well for the first 4 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, although my hematologist thought that my voice sounded hoarse and my blood counts took a dip.

Hi @asarnesejr I’m glad you have been trying to get out more and just enjoy life! Distraction can be some pretty darned good medicine. It’s important not to sit and dwell on things. While you did have a little setback on this trip with getting sick at the end, try not to let that discourage you from more outings in the future.

After reading your adventures at EPCOT, if it’s any consolation, I’d probably have been having the same reaction you did! I can no longer endure oppressive heat and humidity nor intense motion such as amusement park rides. A day of that would have left me recovering for several days. So, I’d say you were a real trooper to handle all of that!
Hopefully you continue to improve daily and get your guts back in order again. It can be helpful to put some pre/probiotics back into the diet. Not supplements…at least from my doctor’s orders, they don’t want me taking any gut supplements. But there are so many foods available that help our gut biome flourish and our intestinal wall heal. If you haven’t you might try a daily serving of fat free, plain Greek yogurt. (I add a little honey or tiny bit of jam, etc. to flavor it).
Keep me posted, ok? Hugs.

Hi @asarnesejr - given your anxiety, why don’t you ask for a sooner appointment and do another blood check sooner than April 7th?
Indeed, blood readings can fluctuate a lot - not only due to objective reasons, but also due to the test accuracy. I had some blood tests last year when my neutrophils doubled and halved if I were to believe those readings. Such “phantom” fluctuation might easily explain your latest results. However, I would say it is better to be safe than sorry.
What is your RBC and lymphocytes (the latter is obviously also on a low side)?
Have you also discussed the treatment plan with your MDS doctor? Whether the potential transplant donors have been identified? It might be not on your immediate radar, but you rather have all future steps articulated and aligned in advance.
Did you stay with the same doctor during your MDS history or also got an independent second opinion?

@igorp My April 7th appointment is with the MDS doctor. I don't want to move it sooner because the results of my genetics test will be back for review on that date.

When I first started this journey I was seeing a hematologist and Anderson Cooper with all blood drawn at Labcorp. My second opinion was with the team at Penn Medicine with all blood drawn right on their campus. I have found that Penn Medicine has given me a sense of confidence in their professionalism.

My RBC went from 4.04 down to 3.48 over the last 2 months

My lymphocytes remained at 0.7 over the last 2 months

I will confirm on April 7th if a donor has been identified yet.

Any thoughts?

Hi @asarnesejr - yes, I have some thoughts:
1. Your low grade MDS with only germline and somatic DDX41 mutations looks very favourable in terms of prognosis and treatment.
2. However, for your level of blasts, your blood readings look low. I have comparable ones for neutrophils, monocytes and platelets, but I’m at a more advanced stage - AML (and more mutations too).
3. Moreover, in your case, not only myeloid lineage is adversely affected, but also the lymphoid one. So, both parts of the immune system - innate (including neutrophils and macrophages) and adaptive (including T and B cells) - are somewhat compromised. And now (hopefully temporary) reduction in RBC and haemoglobin (which can lead to mild anaemia) - this though can be also related to your levels of B12, folate and iron. These observations brins me to the next 2 points.
4. As mentioned before, you need to get clarity about your chemo treatment and HSCT (most likely unrelated donor given germline). You may or may not need it soon, but such clarity and readiness are important at this stage.
5. Given point 3, you might also need to rethink whether such endeavours like holidays in Disneyworld is a good idea. I have to say though that, to these days, I lead a normal life, including a number of very long distance trips. However, in my case, it was against my doctor’s advice (but he still was very helpful and provided me with the right antibiotics and other medicine given my need to travel).

Went today (April 7th) to my 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

WBC: 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 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....

@loi just want to put in my 2 cents worth here .
My husband drinks a small cup of miso soup every morning . It has helped him a lot with his GI tract . He is also on sourdough bread .
Hope these hints help some patients . These are real foods and not supplements .ribmt