Copper Deficiency or ALS
I am in a deteriorating state and am seeking advice from anyone familiar with copper issues.
My clinical picture:
Symptoms: Progressive spasticity, hand weakness, and emerging bulbar (speech) difficulty, fasiculations, prominent sensory issues in affectef terriotories as well numbness, water that isnt there, stabbing burning tingling, flashes of light sometimes.
Key Findings: My NfL level is 0.90 pg/ml (normal) on a 0-1.30 ref range scale drawn in late feb and my last emg performed in late december was normal.
A recent liver biopsy was negative for copper and negative for metallothionein (MT), suggesting my liver is not storing copper and negative ATP7B gene sequencing so wilsons has been ruled out.
Systemic Failure: I am currently neutropenic (1.6 neutrophils), and my serum copper fluctuates between 58 to 70 with supplementation, while ceruloplasmin remains flat at 17.
It appears my body’s failed to absorb any copper. Despite supplementation, I am experiencing volatile "nerve flares" and muscle stiffness, i have had this deficiency for about a year know but symptoms kicked off after covid and then worsened on my left side following a bad reaction to e-stim therapy.
I am currently working with specialists, but the progression is killing me. Has anyone here experienced a failure of hepatic copper uptake or a transport protein mutation? Any advice on how to expedite diagnostic sequencing or stabilize copper loading would be deeply appreciated.
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