>
> >In coming up with a diagnosis, was anyone tested for Wilson disease?
> >Thanks.
> >
> >Debbie White
> >
> >[log in to unmask]
In the process.
Having Wilson's would be like winning the lottery
since it occurs 4 in a million in the general population,
and is potentially treatable if caught soon enough.
In a nutshell, it is a rare (4 : 1,000,000) autosomal recessive genetic
disease of copper storage. Copper accumulates in certain organs
to toxic levels, manifesting as liver disease, neurological symptoms (PD),
Kaiser-Fleischer rings in the eyes are the most common.
Homozygosity is rare, but, heterozygotes are 1 : 80 people in the
general population. 100 variant mutations for Wilsons have been defined
in the Human Genome Project...therefor, there is variation in disease
presentation. Wilson's IS treatable with chelation therapy and zinc,
possibly even reversing many symptoms (including PD) over time.
Go to Pub Med and search...there is info there.
http://www.ncbi.nlm.nih.gov/PubMed/
............................................................................................
Ray Strand
mailto:[log in to unmask]
48/47/45?
............................................................................................
...on the edge of the prairie abyss ......................
