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MDS diagnosis with DDX41 Germline and Somatic
Blood Cancers & Disorders | Last Active: May 6 9:50am | Replies (32)Comment receiving replies
Thank you for your concern. I meet with my MDS specialist in October, but she specifically told me that once my platelets go below 50 or my hemoglobin level goes below 9-10 that she would go directly to to SCT. She said she wasn't as concerned with the blast counts.
Now after the meeting with the Stem Cell team, I am very concerned about this approach. I didn't realize the odds are against me surviving the procedure and living a normal life afterwards. Your suggestion of alternate treatment options is something I need to start looking into.
The Stem Cell Team said as of now, my IPSS-M score is -2.2, considered very low risk. This scoring system does not take into account my ddx41 (R525H) mutation (although the research for the scoring system did include this variation). The feel that this variation lowers my score even more, suggesting an educated guess of -3.3.
They also told me that as of January 2026, all potential SCT patients are to meet with the Stem Cell team earlier in the process.
All I know is that I thought I was traumatized with my initial MDS diagnosis, I'm just as traumatized now after meeting the the Stem Cell team. I haven't been able to sleep since last Monday.
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@asarnesejr I’ve given you so much information over the past several months regarding your specific mutation and a SCT transplant, along with comments from other members who also have your DDX41 mutation. These members were also queued in to have a SCT.
With guidance, through a 2nd opinion at Mayo-Rochester with a doctor who specializes in that particular mutation, they have learned it may be better to wait or forego the transplant because they may actually respond to other treatment options better. It’s not well documented mutation. So having the second opinion from someone who has actually researched and published the papers on this mutation could be very helpful for you.
With a video consult, you may not even have to travel to Mayo to speak with a specialist. I really think it might be in your best interest to get a 2nd opinion. If you don’t need a transplant that would take a huge weight off your shoulders.
From what you’ve told me through our conversations, this transplant could be years out yet!
If you’re interested, here’s a link to contact Mayo for a 2nd opinion. You don’t need a referral from your doctor.
I want you to be able to sleep nights!