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Old Tue Jun 12, 2012, 03:04 AM
Chirley Chirley is offline
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Join Date: Oct 2007
Location: Logan City Australia
Posts: 1,100
Hi, just a quick update.

I saw the Prof of metabolic medicine today and he admitted that there is a lot of unknowns with my disorder. He verified that even though I'm having IV copper and my blood levels can look normal, that I'm not utilizing the copper at a cellular level. He said that this was the reason I had high urinary excretion. This means that despite treatment, I may still get all the other complications of copper deficiency like aneurisms, cardiac arrythmias (already have) etc.

He also said that ferritin levels are next to useless because of the copper protein/ferritin relationship so my ferritin might be higher or lower than the blood reading. This applies to the zinc level as well.

He recommended that the hematologist arrange a liver biopsy to assess metal
levels at a cell level. Yuk!

I'm feeling well and can now walk around my house with a walker (wobbly, but do able). My only real complaint is fatigue which has worsened in the last couple of weeks but that may be weather related. Short days, overcast, rainy, cool, windy, all I want to do is snuggle in and sleep. This weather is unusual for a Brisbane winter.

Copper infusions scheduled for the rest of this week and a couple of days next week. I will see the hematologist on Thursday and hope he doesn't want to do a liver biopsy

Regards

Chirley
__________________
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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