The world is full of rare diseases. Many people have them, but when you compare them to the population as a whole, the number seems small. Take Wilson's disease for example.

What is Wilson's disease?

This disease is inherited and causes the body to hold extra copper. It is the liver's fault because it does not let the excess copper go into your poop to leave the body. The accumulation of copper in the body causes damage to the liver.

After too much damage, all of that copper is released into the blood stream.The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, severe brain damage can happen, liver failure, and even death.

What are the symptoms of Wilson's disease?

It is present at birth. The symptoms don't appear until the ages of six to 20. However, they can appear as late as 40 years of age. The most characteristic sign is a rusty brown ring around the cornea of the eye called the Kayser-Fleischer ring. This can be seen only through an eye exam.

Other signs can only be detected by healthcare professional, specifically a gastroenterologist. Other signs include swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

What causes Wilson's disease?

This disease is recessive trait and effects all kinds of people. That means each parent must have this as a recessive gene. For you to get it, you have to have the recessive gene from both parents.

How is Wilson's disease treated?

Wilson disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. After that, you will have to have a low copper diet.

When it comes to Wilson's disease, early detection is the key.