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Hi Debbie,
I had my BMB on Thursday and will get my results next Thursday. I'm also booked in for another 3 units of blood next Thursday as well.
I hope all goes well for your family, it's going to be a trying time for everybody but won't it be wonderful when it's all over and the illness is completely gone.
Best of luck for the 21st.
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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