Wilsons Disease

At the age of twenty I was diagnosed with Wilson's disease. It is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death.

Most people with Wilson's disease are diagnosed between the ages of 5 and 35.

Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile).

But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early,

Wilson's disease is treatable, and many people with the disorder live normal lives

Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease.

They can include:

Fatigue, lack of appetite or abdominal pain
A yellowing of the skin and the whites of the eye (jaundice)
Golden-brown eye discoloration (Kayser-Fleischer rings)
Fluid buildup in the legs or abdomen
Problems with speech, swallowing or physical coordination
Uncontrolled movements or muscle stiffness

Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're a carrier and can pass the gene to your children.