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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
According to my MDS doctor, she would like to perform a stem cell transplant when either my platelet level trends below 50 (currently 92) or my Hemoglobin level trends between 9 -10 (currently 14.2). She is not as concerned about my blast counts or progression to AML as the 'trigger' to perform the SCT.
Everything I read is about the disease percentages and timeframes progressing to AML, but never those blood numbers dropping to those levels.
I went this week to have a skin punch biopsy done to determine if the ddx41 (r339c) (vaf 53%) is germline or somatic. The doctors feel that anytime there is a 50% mutation, it came from a parent and therefore hereditary. The results of this test will take approximately 6-8 weeks.
However, due to emotional anxiety, I made an appointment for next Tuesday to meet with my monitoring Hematologist to try and get clarity as to why he feels I could go up to 10 years without intervention, while the Genetics Doctor is saying 1 year.
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@asarnesejr You’re doing a great job in advocating for your best healthcare! I think having this consultation with your hematologist next week and also having the biopsy done will go a long way in giving you peace of mind of what to do and when, if the recommendation is to go forward with the SCT.
There’s a large window of discrepancy between the 10 years without intervention and 1 year! And just speaking from experience, having the transplant in your early 60s would be preferable than waiting until you’re 70, all things considered. It’s not really a cut off date but everything gets a little tougher as we age.
I’m really interested in following this along with you. The ddx41 variant is sometimes handled differently than other mutations when it comes to BMT. Let me know what you find out please.