New diagnosis DDX41 MDS-EB1: what made you start treatment?

Hi everyone,

I am hoping to connect with others who have MDS with a DDX41 mutation, especially anyone with germline DDX41 or both germline and somatic DDX41. I have DNMT3A 8%, DDX41 R525H 10%, and DDX41 R339 51%.

I am a 52-year-old woman in New Jersey. I was diagnosed with MDS with excess blasts MDS-EB1 in December 2025. My previous marrow biopsy had been reported around 8% blasts, and I just had a repeat bone marrow biopsy 7 months later that showed blasts decreased to about 5–7% with normal cellularity. I am still waiting for the rest of the results, including molecular/genetic testing.

My blood counts are low but told stable at WBC 2.11, RBC 3.18, platelets 86, and hemoglobin 11.5. I am not transfusion-dependent and have not received any MDS treatment so far. I feel good, not symptomatic.

I have now had several opinions and they have been very different:

- one MDS specialist doctor recommended going straight to transplant right now
- one MDS specialist doctor recommended HMA treatment as a bridge to transplant in the near future
- one MDS specialist recommended low-dose Inqovi, 3 pills/cycle instead of the standard 5
- the hematologist I have been seeing for a couple years as counts have lowered recommended continued monitoring/watch-and-wait

I am currently leaning toward monitoring because I feel good, my blasts are not increasing, I have not needed treatment for anemia or transfusions, and I am very unsure that I would ever want a stem cell transplant. I would love to get a Mayo Rochester opinion because of their DDX41 experience, but they told me when I called the first visit must be in person. I live in New Jersey and am hesitant about the travel, driving distance, and germ exposure from flying.

I would really appreciate hearing from anyone with DDX41-related MDS or AML. I have a ton of questions, and right now am feeling scared, confused, and unable to make a decision. I understand everyone’s disease is different and I am not looking for medical advice in place of my doctors. I am trying to understand real patient experiences because DDX41 seems to be handled differently without one clear concensus, and I am struggling with getting four different recommendations.

If you can help me with even just one of these questions below, I would really appreciate your input! I hope you all are doing well

- Has anyone with germline DDX41 done watch-and-wait? If yes, for how long?
- What finally made your doctor recommend starting HMA treatment — blast count, platelets, hemoglobin, transfusions, infections, new mutations, or something else?
- Has anyone started an HMAs while still feeling well and not needing transfusions?
- Has anyone used a reduced HMA schedule, such as 3 days/pills per cycle instead of the standard 5?
- For those on HMAs with DDX41, how long have you been able to stay on them and benefit? I was told that they typically work for about 1 - 4 years
- If you stopped HMA treatment, did the disease come back worse, or did it just gradually progress?
- Has anyone combined conventional monitoring/treatment with functional medicine, nutrition, anti-inflammatory diet, supplements, or other supportive approaches? Did you feel it helped symptoms, counts, tolerance of treatment, or quality of life?
- Has anyone traveled to Mayo Rochester for DDX41 specifically, and was it worth the in-person trip?