Does anyone else have AML with ddx41 genetic mutation?

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?

Hi There...

Was diagnosed about a month ago with MDS. I also have a DDX41 mutation (no other mutations currently).

My care team at Northwestern started chome as a bridge to early transplant. Everything I've read seems to suggest the opposite but there may be some distinction between truncating and non-truncating variants of DDX41 mutations. Heading to Mayo Rochester next month to get a second opinion.

I just completed my first round of Inqovi (decitibine). Blood counts are down as expected but not clear yet how far they will drop and/or recover before the next round starts.

Unfortunately for us, seems there just isn't a great deal of data on DDX41 patients and outcomes. Hoping Mayo can shed some light on what the latest and greatest thinking is.

Hope you are doing well!

I Was diagnosed with AMLin southwest michigan 16 months ago then went to the u of chicago for treatment plan and to prepare for stem cell transplant.they found the ddx41 mutation and was sent to mayo to talk with an AML specialist...who strongly advised against the transplant,We saw him again this month and he's reducing my degogen and venclexta medications.Anyone else on this journey?

You're going thru a lot.The infusion staff is getting to know me too.I'm hoping that the er staff doesn't.But I may be heading there..Wish we were so close to mayo.

Well my left shoulder is not working as well as before treatments.So I've been to physical therapy which seems to be helping...really a minor deal.I've had thrush for a third time.Not a lot of fun but not horrible.Played golf in southwest michigan where we live six or seven times already because of the freakishly warm but greatly appreciated warm weather.

Thanks for your support. I had a little set back yesterday, fainted after the morning shot, checked out in ER, admitted for observation. Needed a transfusion but everything else checked out so was released. However it was decided best not to give me the afternoon shot which means it has to be added to the end. I checked in this morning and found that they wanted another blood test before proceeding, my platelets were 72. So waiting for results. I know bruising is worse. The entire staff at Mayo are so nice 😍 but don't think it's good that ER staff remembers me! Yes, I still make the 54 mile trip twice daily!

I’m happy to hear you’re being seen by an AML specialist from Mayo-Rochester. It’s my home away from home! I trust the hematology and transplant departments with my life so I know you’re in the very best hands with them!

There are a couple of other members in the forum with AML or MDS who aren’t able to follow through with a transplant who are on the same treatment program that you’re taking right now. There’s a great conversation with
@lindagi @tampakaren @immaninja and others in this discussion:

~AML, age 78, taking Decetabine/ Venetoclax, no transplant
https://connect.mayoclinic.org/discussion/aml-age-78-taking-decetabine-venetoclax-no-transplant/
Hopefully you’ll meet with your same specialist in May. It’s nice to have the same doctor for continuity. Once the appointment is scheduled and available on the portal, you should be able to see the name of your doctor.

Are you experiencing any side effects with your treatments?

HiLori,Yes they warned me that with my age(74)and my generally decent health a transplant would be quite riskey.The hematologist oncology team at the university of Chicago sent me to mayo to meet with an aml specialist who advised us that I had a lot better chance at survival without the transplant..We are going to make another visit to mayo in May hopefully to meet with the same doctor.

Good morning, @dmc1937 I know you were concerned about your new treatment plan, so I’m relieved to see you’re doing great so far with no side effects. You’re at the halfway mark! Do you have to go to the clinic daily for infusions?

Hi @fortuitous and welcome to Connect. AML loves to present us with challenges, that’s for sure. I had 3 mutations associated with mine which left me no choice but to have a transplant.
The ddx41 is a mutation I’m not familar with. Did your doctor feel there would not be a positive outcome with the transplant?