1. Wilson’s Disease The Genetic Disorder You’ve Probably Never Heard Of

2. Once Upon a Time…

3. …There was this guy.

4. His name was….

5. Robert Smith

6. Samuel Alexander Kinnier Wilson

7. He Could Golf…Left Handed!

8. About Samuel Something Something Wilson He was a British neurologist who, in 1912 (Titanic!!), received a Gold Medal from the University of Edinburgh for his doctoral thesis entitled: "Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Although Westphal-Strümpell's pseudosclerosis had already been described… they failed to recognise the two major signs of the disorder” (Whonamedit). The egotist he was, he insisted this disease be called “Kinnier Wilson Disease”. Thus, Wilson’s disease got its name. It was not until the ‘50s and ‘60s that the first effective treatments were developed. It was not until the ‘80s and ‘90s that the genetics behind the disorder were understood.

9. SO, “WHAT IS WILSON’S DISEASE”, YOU ASK?

10. Genetic Background Wilson’s disease is an autosomal recessive disorder. It is caused by a mutation in the ATP7B Gene on Chromosome 13. 1 in 40,000 people get the disease: men and women, old and young Of course all the offspring are male, nobody wants girls…sexist.

11. Wilson’s Disease The body requires some copper to maintain normal function. Copper is a trace element in the body. Wilson’s disease is a genetic disorder in which the body becomes unable to excrete excess copper. As a result, excess copper accumulates in the brain, liver, eyes, and other organs. Eventually, this can lead to catastrophic organ failure.

12. Wilson’s Disease Normally, the liver filter’s- out excess copper, releases it into the bile, which then flows into the gastrointestinal tract and out of the body. Individuals with this disease experience a decrease in the rate of biliary elimination because the body is producing less of a protein that transports the excess copper from the liver.

13. Symptoms

15. Kayser-Fleischer Rings

16. But the Good News is…Wilson’s disease can be effectively treated!

18. Treatment Certain medicines, called “chelating agents”, prompt organs to release copper into the bloodstream which is then filtered and released by the kidneys. Medications containing Zinc Acetate reduce copper levels in the body by preventing the body from absorbing copper from food.

19. Life Treated properly, people with Wilson’s disease can live very normal lives. However, their doctor may recommend lowering intake of copper-rich foods (liver, shellfish, mushrooms, and even……….CHOCOLATE!  ) and to keep the water in taps running for a while to prevent copper buildup from the pipes. As for members of the family, they may get kinda mad because there’s less chocolate in the house but, more likely than not, they’ll get over it.

21. Have a Dawesome Day!

22. Works Cited  digestive.niddk.nih.gov  whonamedit.com  doctortipster.com  mayoclinic.com