MDS diagnosis with DDX41 Germline and Somatic

Hi @twitt1949 There is no actually cut off age for a BMT though they usually aren’t performed on patients beyond 75. And at that age the patients have to be in relatively good health with no other medical issues.
I’m not going to go through all the particulars of a bone marrow transplant for you because it’s not germain to your situation.
There are many other treatment options available for patients with MDS. You watched the really informative video you provided. So the questions you gleaned from the video will be a great starting point of conversation with your doctor.

@loribmt The stem cell team just got back to me today. They told me that the only matches they had were 7/8 match. I'm not sure what that means. Is this good or bad?

Hi @asarnesejr Donors for a stem cell transplant are chosen by how closely certain markers, called Human leukocyte antigens (HLA) match up to your current immune system. With the transplant, you’d be receiving that donor’s immune system as your own so a close match is important. Also, as a side note, blood type matching isn’t important. It’s the HLA markers.

Standard testing looks at four pairs of HLA markers, called 8/8 matching. More detailed testing adds a fifth pair (DQB1) to make 10/10 matching.
So a 7/8 match, if there are no other options is considered an acceptable HLA match.
Here’s how donors are chosen.
Cancer.org https://www.cancer.org/cancer/managing-cancer/treatment-types/stem-cell-transplant/finding-a-donor.html

There’s a lot to absorb, I know. I have resource links to send you if you’re interested in more info.

@loribmt I know this is a bit off topic but I was wondering what your gut feeling is for the not so distant future as far as treatment for ddx41 MDS. Do you think there is a possibility that SCT will no longer be the normal go to treatment? AI and quantum programming is progressing so quickly, I'm just asking as a discussion.

Hi @asarnesejr It’s hard to tell what future medical technology will come next. CAR-T therapy has really made a significant impact into curing some blood cancers. But there remain some mutations that pose challenges for that therapy. There are targeted therapies, biologic/genetic therapies, bone marrow transplants depending on what better fits the illness. Fortunately we have options and I’m assuming that will broaden as cancer research continues.
Regarding the DDX41 mutation, as we’ve talked about before in our discussions, according to data from studies, along with the conversations with @sherbs and @fortuitous, who also have the DDX41 mutation causing their AML, a stem cell transplant isn’t always the better option for treating AML with this mutation.
Some patients with this mutations may respond better with medications than with the bone marrow transplant. That’s why it’s critical to have an evaluation with a specialist who understands the complexities of this mutation.

I’d encourage you to look back at some of the first comments in this discussion by clicking the box that says #1. You’ll find links to the conversations that might be worth revisiting. ☺️

@loribmt Hi again. I went for my 2-month checkup with my hematologist on 07/13. After the 1-year mark, all my numbers stayed the same: WBC between 1.6 / 2.2, Hemoglobin between 12.2 / 14.4, Platelets between 67 / 92, ANC between 0.7 / 1.1. These numbers aren't trending downward, rather bouncing all around over the 9 CBCs I've had.

My IPSS-M risk score is -2.25 c/w very low risk.

Both my hematologist and MDS specialist have approved moving my CBC checkups from 2-month to 3-month intervals.

My MDS specialist noted that in my paperwork, in 2012 my platelets were at 153. She feels that my MDS was active at that point.

Does this make any sense to you. Obviously, it's good news that my numbers have stayed steady for a year, yet I feel like a rock is about to come crashing down on me with each visit. To be honest, it's scary that 1-year has gone by already, and I'm one year closer to the inevitable. You have much experience, what are your thoughts on all of this?

Hi @asarnesejr Reading through your reply, I found myself smiling and nodding! Yes indeed, you can take this as a good indication that your doctors are liking what they see with your labs being stable.

From my own experience, we don’t get our ‘leashes lengthened’ between appointments if our doctors aren’t sure of their decision. They base appointment frequency on the trends with lab blood numbers. Yours have remained stable, which indicates your doctors aren’t anticipating any rapid changes taking place. To go from 2 month intervals to 3 months is super encouraging!

I know, I know…I’ve gone through it too! Each time there was a longer time span between tests, I was filled with a little trepidation! But I also learned that my doctors wouldn’t adjust the time for longer intervals if I wasn’t ready. Imagine my shock a couple of months ago when my local hematologist, after looking at my latest labs, told me there was no clinical reason for me to continue coming in to see him. I’ve been seeing him for 7 years…I’m responsible for many of his grey hairs! LOL. But my cancer is gone, it won’t be returning. So gulp, I’m totally off-leash now!

I know you’re concerned about the potential for a bone marrow transplant in the future. But if you’re at a very low risk for progression perhaps you won’t even need one! Your numbers are not changing much. So, take this as a really positive sign to get out and enjoy your life! Try not to dwell on those pesky ‘what if’ scenarios. You are good to go with a nice reprieve! What can you do with the extra time you’re not spending at your doctor’s office?? ☺️

@loribmt Lori, 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 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 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.

@asarnesejr I just made a post since being diagnosed w mds eb1 and ddx41. Our stories are very similar. I hope you are doing well, and maybe that you can post an update as to where you are now with your treatments?