Matthew42, I was never really worried about my mother's iron counts anyway, it's been the hematologist that has been harping on it
It's still good to see it go down because Exjade is a real pain to deal with. (You know it comes in massive tablets you have to crush and drink with water?? Yuck)
I have been looking over the full genomic report that was posted to the chart and for the most part it was fine except for one thing:
Quote:
DETECTED GENOMIC ALTERATIONS: Mutations were identified in the following
gene(s): ASXL1 (p.Gly646Trpfs*12). Variants of unclear significance, if
identified, are listed in the scanned report.
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After a long bout of research I found a few articles that were very helpful in understanding what this means.
Clonal hematopoiesis in acquired aplastic anemia
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
A brief, but comprehensive, guide to clonal evolution in aplastic anemia
Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria
Basically, from what I understand, the mutation is not diagnostic of anything, but it confers a higher likelihood of progression to MDS one day.
I don't know how to feel about this. On one hand, I know it's possible that the mutation could shrink or disappear, or that new ones will show up. There's still a good chance it does nothing. A lot of people, especially older ones, will show up with MDS-related mutations post-treatment from AA.
On the other hand, I am frightened and stressed out about this. My mother being older, and that we are 8 months out and only just now achieving partial response makes me worried as well.
I know there is nothing to be done about it regardless, except to continue to monitor blood counts going forward and likely more bone marrow biopsies or genetic testing.
It's hard to consider all of this. It's a lot of information I don't fully understand, and it seems the research is also a little fuzzy simply due to lack of data. Some days it's also harder to consider that both of my parents developed blood disorders.
For now, I suppose I'll have to be satisfied that the biopsy currently shows no evidence of dysplasia, and a good increase in bone marrow cellularity. My mother's blood counts are improving. My focus in on wanting my mother to feel better, regain strength and improve functioning. And I'll keep donating platelets when I can, because it's at least something tangible and physical I can manage to do.