Finally Diagnosed

Swim15

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I was very active here for a number of months and appreciate all the help I gleaned from members.

I wanted to come back and say that I finally received a diagnosis finally and have Wilson’s Disease.

I’m starting chelation in the next couple days and hope to use some special substances, primarily Ibogaine, after chelation to hopefully restore dopaminergic function and reverse as much damage as I can.
 
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Second star to the right ...
This must be enormously encouraging for you. First, in finding a Dr who listned to you, and second, for his ability to narrow down the spectrum of your symptoms and come up with a viable treatment plan.

I'm so happy for you, you lucky ducky !!!

May your improvement be immediate, permanent, and return you to the life that you lost so much of during this desperately difficult, lonely, and painful journey :woot::woot::woot::woot: :thumbsup::thumbsup: :hug::hug: !!!!
 

Swim15

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Woah! Good luck. In the past you mentioned Dr. Jon Kaiser. Is he the one that diagnosed you? What tests and/or symptoms led to the diagnosis?
He did not. He encouraged me to get the liver biopsy since other docs weren’t doing anything but it was my gastro that ordered it and then a hepatologist that diagnosed.

That said, Kaiser has been great.

As far as tests - serum copper, free copper, ceruloplasmin, 24 hour urine copper, and liver biopsy
 

leokitten

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Thanks though guys! Appreciate all of you and all the help I received here
Wish you the best of luck during your treatment and hopefully you can recover to 100%.

May I ask and sorry if I missed some of your posts, what signs did you notice before the liver biopsy that suggested to you that you should examine your liver and Wilson’s disease?
 

Swim15

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Wish you the best of luck during your treatment and hopefully you can recover to 100%.

May I ask and sorry if I missed some of your posts, what signs did you notice before the liver biopsy that suggested to you that you should examine your liver and Wilson’s disease?
Nothing actually. Caught it accidentally with ceruloplasmin and serum copper lab, free copper, then 24 hour urine copper, and finally the biopsy because the others weren’t entirely conclusive.

I am having mild-moderate neurological symptoms now but nothing that would immediately suggest Wilson’s.

Been a several year journey of getting it solved And so glad
 

Hoosierfans

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Swim, may I ask what your 24 hour urine copper was? And your free copper?

Just so folks know who may read this.... typical Wilson’s pattern is: Low serum copper, low serum ceruloplasmin (usually below 10), high 24 hour urine copper (although if mid range, testing should go forward to biopsy). Liver biopsy or liver CT will confirm diagnosis. Or KF rings.
 

Swim15

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Swim, may I ask what your 24 hour urine copper was? And your free copper?

Just so folks know who may read this.... typical Wilson’s pattern is: Low serum copper, low serum ceruloplasmin (usually below 10), high 24 hour urine copper (although if mid range, testing should go forward to biopsy). Liver biopsy or liver CT will confirm diagnosis. Or KF rings.
Yeah man

Serum copper: 28-56 depending on the draw (75-175)
Free copper: 170mcg/l and 240mcg/l
Ceruloplasmin: 8-9 - mg/dl I think
Urine copper: 26 and 28mcg (<40mcg)
Liver biopsy: 107mcg/g
 

Swim15

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Sorry I meant liver ultrasound. According to my doc, with Wilson’s you would have liver deposits / abnormalities show up on an ultrasound. If they saw any on my scan, then they would have ordered a biopsy.
Mine was totally normal with an ultrasound so I’d definitely say no.

Genetic diseases are a huge spectrum with varying presentation which most docs don’t get since they’re, poorly, trained in med school that things always look like X or Y when that’s not the case.

That’s also sort of ignorant because it depends on the stage and presentation of disease. Some people will present neurologically first and their livers will be totally okay - the other group presents with liver abnormalities or cirrhosis first and no neurological symptoms. I’m in the former group
 

Swim15

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Yes exactly. For example congenital mitochondrial diseases, two people with the same mtDNA mutation(s) will have wildly different presentations and makes diagnosis difficult.
Good analogy. That’s why my presentation took a while to figure out (about a year) and if a genetic diseases is suspected then it needs to be fledged out fully