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I’m 58 and was diagnosed with AML DDX41 10 months ago. I have both germline and somatic DDX41 + CUX1 + CBL. Other than my bone marrow and blood readings, I’m in good health otherwise, no anaemia, no clear symptoms and indolent nature of my AML. I’m based in the UK and still have not started any treatment, but consider to start soon.

Would be interest to learn about other people’s experience with DDX41 and would be keen to talk to someone as well.

Whether my wait and watch approach makes sense or whether it is better to start the treatment asap?
What is a preferred approach - intensive treatment or reduced intensity? My doctor plans to start on Venetoclax+Azicitidine (rather than intensive chemo) - which makes sense to me, but good to understand other experiences/perspectives.
Whether to start HSCT asap after the chemo (as seems the medical/scientific consensus suggests)?
What is the risk of and experience with potential complications, including bacterial (gut bacteria), fungal and viral infections, refractory/relapse, acute or chronic GHVD, etc?
Any other practical recommendations, observations, etc.?

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Replies to "I’m 58 and was diagnosed with AML DDX41 10 months ago. I have both germline and..."

Welcome, @igorp You popped into the perfect conversation with some of our other members who have AML with the DDX41 mutation. There are other discussions as well that you might be interested in reading through. Please feel free to tag a member if you have questions. You can do that by clicking the blue reply oval in the reply so that the person gets notified.
Here is that list: https://connect.mayoclinic.org/search/

If you do require a HSCT, at least in my personal experience, having the transplant soon after the final round of chemo is usually advisable. Basically, the ‘cleaner’ we go into transplant the better chances for a longterm positive outcome. There are definitely considerations with a SCT. You mentioned several potential complications. There have been great advances in SCT protocol over the years to help mitigate the worst of the graft vs host issues. The first 3 months following the transplant is when the patient is most vulnerable so precautions are taken such as a ‘temporary’ immune system by taking prophylactic antibiotics, antiviral and anti-fungal meds, along with an anti-rejection medication for several months post transplant. It’s advisable to wear a mask and avoid situations where exposure to infection is high. I’m coming up on 7 years post transplant and frankly, I feel 98% back to my old self. (I’m 72).

Because the SCT is complex it’s important to have this done at a larger teaching/research hospital who does many of these procedures. Has your doctor brought up the conversation about requiring a transplant?