Gosh, I was given a full blown anesthetic in OT to have my port inserted AND I had to stay in hospital overnight.
They must have thought I looked whimpy.
Chirley
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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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