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Profile picture for Lori, Volunteer Mentor @loribmt

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?

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Replies to "Welcome, @igorp You popped into the perfect conversation with some of our other members who have..."

Hi Lori - yes, we have identified a potential unrelated donor with 10/10 match. My sister was a match too, but we had of course to search for an unrelated one given germline origin of my DDX41. The HSCT is going to be an important challenge with GVHD, chimerism, NRM, etc. My doctor told me that the most common reason for the latter (NRM) is our own (normally harmless) gut bacteria. Whether any known solution to this problem - other than generic prophylactic antibiotics?
At the current stage however, the most important decision for me is whether to start the chemo treatment (venetoclax + azacitidine) now or delay given no any symptoms and good overall physical condition. Despite substantially lower levels of WBC (especially neutrophils), I don’t seem to be more vulnerable to pathogens in practice than people around me. Since I was diagnosed 10 months ago, I continue my daily work in the office, taking busy public transportations, flying long and busy flights, doing shopping, socialising and even doing sport. My life is almost BAU - other than my regular hospital visits and abnormal blood readings. However, I know a number of things may go wrong once I start the treatment - and there is no way back. I do understand that the treatment is unavoidable in order to have a chance of remission and potential longer life, but the question is when?