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Does anyone else have AML with ddx41 genetic mutation?
I Was diagnosed with aml or acute myeloid leukemia about 14 months ago.They (doctors) were preparing me for a stem cell transplant .But after a genetic test it was put off because I have the ddx41 mutation.I would like to talk with others with the same condition.Right now I'm taking venclexta and decitabine and am doing pretty well..
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Hi @fortuitous, There’s another member in Connect (@sherbs)with the same DDX41 mutation only with MDS, not AML. I just wanted to make sure you saw their message to you. Here’s the link. https://connect.mayoclinic.org/comment/1188060/
How have you been doing since reducing your degogen and venclexta?
Following up on this after my meeting with my team at Mayo Rochester.
For anyone with DDX41, I can highly recommend getting an opinion from Mayo. There really isn't a better group out there that has familiarity with this relatively rare mutation. I learned that there are many sub-types of DDX41 mutations - some more serious than others. It is important to know what sub-type you have as it may indicate different course of action and/or different treatments.
There are no guarantees, of course, and this could still develop into AML requiring more aggressive treatment and even SCT at some point down the road.
However, Mayo did disagree with the approach taken by Northwestern Medicine and indicated that early transplant is probably not the best course of action. This approach agrees with all of the research I've done on DDX41. I'm not sure why Northwestern wanted to take such an aggressive approach to treatment - when I confronted them on their approach and provided links to the papers I've found, they certainly didn't sell me on why early SCT would be a good idea. They just kind of dismissed the literature as not being significant due to the small numbers of patients studied. There may be some truth to that concept but, for me, making decisions based on the best information available makes sense over ignoring it without good cause.
I'd advise anyone working with Northwestern Medicine to seek additional opinions - no matter your mutation(s).
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3 ReactionsThank you for the update! I’d read about delayed SCT for DDX41 mutations and realized my hematologist/transplant/research specialist at Mayo was one of the authors of the study. Their hematology department is second to none. Of course I’m a little bias but your message was a validation for what I already feel about Mayo Clinic. A 2nd opinion there is definitely warranted for anyone who is questioning a diagnosis or treatment for blood cancers.
I hope your condition never progresses to AML but if it does and you require a SCT, you know where to go! ☺️
How often do you return for labs?
Hi Lori!
Given that I live about a 4 hour drive from Mayo, I'm still doing labs here in Chicago with Northwestern. There isn't much difference when it comes to labs that would make me want to return to Mayo just for labs.
As of now, we are doing labs 1x/week. As I start the next cycle of Inqovi, we might go to 2x/week - my platelets did drop down to 60 or so on the first cycle so we were close to needing an infusion but didn't pull the trigger on it - had recovered back to 70 on the next lab and went up from there.
Mayo is collaborating with my team at Northwestern so I feel comfortable still going to NW for the more routine stuff.
In about 3 months (or 2 or 3 cycles of Inqovi), we are going to repeat the bone marrow biopsy. I might go to Mayo for that but haven't decided yet. 4-5 hour drive home with a sore hip bone might suck. FWIW, Mayo read the same biopsy that Northwestern read and reported only 4% blasts (whereas NW was at 7%). It does make you wonder, eh?