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← Return to MDS diagnosis with DDX41 Germline and Somatic
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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
As an update, today I went to see the Transplant Team at the Hospital. My MDS doctor scheduled it as an informative initial visit. Apparently, this visit is needed, as they are the group that searches the donor database for possible matches. Much information was thrown at me during our 90-minute meeting. Needless to say, I am very overwhelmed by how much my life will change and how much can go wrong during this process. I suppose I always thought that once I get through the long recovery period, and the new stem cells take, I would be able to resume my life with minimal complications.
According to the Transplant Team my IPSS-M score is at -2.3. Even lower if you take into account that my MDS is ddx41 driven and that the IPSS-M scoring system does not take into account ddx41 mutation. However, I was informed that the original paper for the IPSS-M scoring system DID consider the ddx41 mutation as well. They did not know why it had been omitted. They feel that if you consider the ddx41 mutation, my score would be even lower, proposing possible -3.3.
This is all so confusing and upsetting to me. On the one hand they say I'm lucky that I have a ddx41 mutation and that I'm at very low risk. However, on the other hand, they say I will eventually need a SCT and that my life will never be the same again. Also, donors are NOT checked for the ddx41 mutation, so I could get the same mutation again, but someone else's.
They couldn't speculate as to how slow progressing my MDS is and when I will need a SCT. How does one even begin to cope and not think about it while 'waiting and watching'?
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Good morning, @asarnesejr. Well, my friend, you have a lot to chew on today after your meeting with the bone marrow transplant team. I know there was a ton of information tossed out to you yesterday and I’ll do my best to help you sort through it.
After reading through your concerns a couple of times I really think you’re most worried about what your life would be like after a bone marrow transplant. If all goes as planned, most of us return to a near normal existence.
From my own experience, my life has returned to, I’d say, 98% of my ‘normal’ life. I have developed close friendships with other BMT patients over the past 7 years, along with members here in MCC. Depending on where we are post transplant, I think we’re all pretty much just going about our lives as routine now. Certainly there are risks vs rewards that need to be weighed. There have been significant advancements in the prevention of graft vs disease complications since I had my BMT almost 7 years ago. So waiting to go ahead with this can have advantages.
However, I will say, that the first year post transplant is a lengthy recovery period often stretching into year two. Meaning fatigue can linger and recovery will involve of frequent doctor’s appointments and blood draws. If your risk score is super low, that means the likelihood of developing a more aggressive blood cancer remains low. Has your team discussed the possibility of other treatment options instead of a transplant?
Also, from information I’ve read, your DDX41 mutation has been recently linked to more a favorable response rates and long overall survival with chemo than with the allo transplant. My Mayo transplant doctor is also involved in cancer research. He and his cohorts have published papers on the DDX41 mutation and that was one of the findings. I think I’ve shared that information with you before. https://www.nature.com/articles/s41408-023-00818-6
There are other members in Connect who also have this mutation and have been referred to DDX41 specialist at Mayo. They’ve shared their stories with you as well.
@fortuitous posted this comment a while ago.
https://connect.mayoclinic.org/comment/1089183/
Along with @sherbs in this comment https://connect.mayoclinic.org/comment/1476612/
Honestly, if I were you, I’d just try to put this in the background and get on with your life. The term waiting and watching is anxiety producing. It’s like you’re just waiting for the other shoe to drop. Active surveillance is much more appropriate. IF, over the years, things change and you need treatment, THEN you will deal with it. People have BMTs into their 70s. But for right now, all this worry and stress is robbing you of some wonderful retirement years! It’s ok to get the information and a potential plan for the future. But from my own experience, live in the present! Each day is a gift and when you focus only on ‘what if’ then you’re losing precious moments.