Hi Folks,

I did meet with my team and we discussed many things.

Some background. I have MDS-EB1. It was discovered that I also have DDX41 mutation that is likely pathogenic. If not for this mutation, I'd be considered very-low or low risk depending on which scoring system is used. Unfortunately, that DDX41 mutation puts me in a category of unknowns. There just aren't a lot of cases like mine and DDX41 isn't considered in the scoring systems being used to categorize MDS.

I've done quite a bit of research on DDX41 that has given me pause and I did discuss that research with my transplant doctor. I think it may be unwise to make general claims on the forum about what is best for DDX41 patients but I will say I'm bit upset with my care team for not being fully transparent about the current research and instead wanting to start chemo as a bridge to early SCT.

My current transplant doctor says that she considers each patient an individual and that the data on DDX41 is limited and may not be statistically significant and may not apply at all in my case. I accept that to some degree but it's also very difficult to simply ignore what I've read and plow forward without more input.

What I have decided is that I need to seek outside opinions on this from those in the best position to advise someone like myself with this not-yet-well-understood mutation. Best place for that is Mayo and I'm trying to get in to see folks there but haven't found availability through their scheduling department as of yet.

Really appreciate the followup.

I do think that, at some point, SCT is in my future - it really is a question of when I think.