Hi There,

My story very much matches yours! I have a lot to share but may not be able to touch on everything in a single post.

Diagnosed with MDS in Aug 2024, DDX41 mutation (different mutation than yours but still in the DDX41 group), initial BMB showed 7% blasts. I felt fine - had fairly normal RBC and Hemoglobin, low WBC, and low platelets but nothing dangerously low.

My first medical team at Northwestern Medicine advised starting HMA as a bridge to immediate transplant. And, initially, I thought this was the road I would be traveling.

However, when I began to do research, I discovered quite a few papers that gave me significant concerns regarding this approach. These were not youtubers or fluff papers. These were published articles in medical journals indicating the opposite course of treatment - that DDX41 driven MDS is typically slow moving. Also that DDX41 patients seem to have a much more difficult time with SCT.

I told Northwestern that we were putting on the brakes and that I was going to seek another opinion. I sought a second opinion from Mayo Clinic. When I went to Rochester, they showed me some of the same papers I had read! Their advice on a course of action was MUCH more conservative than Northwestern and matched up with every piece of data I could gather on my own.

We did proceed with a 3 rounds of Inqovi - and since I've been watch and wait. I'm fortunate in that the variant of my DDX41 mutation is considered low risk. My blasts dropped due to the Inqovi treatments (<2% as of 6 months ago), and my blood counts are very much the same as they were two years ago... I feel fine and am grateful that I can very much continue living my life - at least for now.

You have some time here! Use it to your advantage and specifically seek out an opinion from Mayo Clinic regarding what your course of treatment should be. There are variants of DDX41 mutations that can lead quickly to AML. And there are many more variants of DDX41 that are considered 'indolent'. Mayo is really the only place that I think a DDX41 patient should consider getting advice from.

You need to know what you are dealing with and I'd only be comfortable with an opinion and guidance from the folks at Mayo. They have the data to back up their decisions. Northwestern did not at the time of my diagnosis (things have changed greatly there since then). It is very likely that trip to Mayo saved my life - or at the very least, saved this version of it.

I've also hooked up with a Naturopathic physician as well in the hopes that whatever small edge I can find in this fight will help delay any progression. Lots to say on this subject but might be worthy of a different post or private message. I do believe there is benefit in this area but that it is likely marginal.

What I will also tell you (as I've been very recently informed by both Mayo and NWM) is that DDX41 might be linked to other cancers as well. The evidence is very sparse but it is worth knowing... I've been advised to be very proactive about cancer screenings for all sorts of things - skin, prostate, colon, etc... You probably should too - but the folks at Mayo are the ones you need to seek out for that advice.