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Oh my God. Someone with my symptoms.
I can't believe it!
First person ever.
Has the doctor checked your copper and caeruloplasmin level?
I thought there was someone else on this forum a few years ago with the same thing but they ended up having some kind of nervous system infection.
I'm almost crying, thinking there is maybe someone out there like me.
I had a lumbar puncture and it was abnormal and had 14-3-3 protein which is a marker of CJD and indicates nerve cell death.
Please, please let me know what happens. I'm desperate to find someone with my problem.
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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