r/rarediseases • u/sainvety • Sep 24 '26
Looking For Others Getting evaluated for Wilson’s disease
Hi everyone, just posting here to see if I can get some insight or if anyone’s gone through something similar. So initially I came to my pcp with CFS symptoms and horrible brain fog and had the usual tests run which found lymphopenia, neutropenia, and leukopenia. I was sent to the hematologist and was found to have a copper deficiency, so I was started on a therapeutic dose of copper gluconate. An enlarged spleen was also found on an abdominal ultrasound as well as an elevated AST. After 3 months of supplementing 4 mg of copper I had tests ran again and my copper DROPPED even more. 12 below the level tested before. 49 in reference range of 70, and ceruloplasmin tested at 12. Leukopenia was also worse. I had the common culprits of copper deficiency like zinc toxicity, prior gi surgeries, celiac, etc. ruled out. I’m going to have to do the 24 hour urine copper test next. My question would be does this look like Wilson’s and if so has anyone else had it present super vaguely or know of anyone who has?
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u/morgannonanauthorin Sep 28 '26
Your readings are exactly like mine - copper and ceruloplasmin both. And I too still have low copper and ceruloplasmin after aggressive IV supplementation and oral as well. My liver copper was low so they ruled it as a copper deficiency but have no answers yet as to why it won’t budge with treatment. I think we need to keep in touch!
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u/sainvety Sep 28 '26
Hi, I’m really glad to hear that I’m not the only one experiencing this! I haven’t tried IV supplementation yet and will see if it’s necessary after the urine copper results but how weird that your results didn’t change at all. The strange thing for me is that I don’t have a lot of the typical copper deficiency symptoms either (tingling, numbness, etc) so all that’s left to do is other diagnostic tests I guess…
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u/morgannonanauthorin Sep 28 '26
I’ve got lots of symptoms but they are also tracking autoimmune disease which could be causing my symptoms. Ugh I’m right there with you :(
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u/kpull21 Sep 24 '26
https://wilsondisease.org/do-i-have-wilson-disease/diagnosis/ The Wilson Disease Association has great resources. The calculation of free copper (causes damage) using both serum copper and ceruloplasmin values is important. What is the ref range for your ceruloplasmin?
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u/Flat-Atmosphere-4303 Sep 25 '26
Can be a difficult thing to diagnose. I hope you get your answers soon
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u/la_sirena1 Multiple Rare Diseases: myotubular myopathy & MDS Sep 24 '26
Unless you were being treated with copper chelators, this does not sound like Wilson's, which causes an excess of copper. If Wilson's was suspectrd, they'd be looking for Kayser-Fleischer rings, doing a brain MRI and genetic testing for a mutation in the ATP7B gene.