Something You Don't Want

Wilson’s Disease. Ever heard of it? You’d better hope that if you are the one out of 30,000 people who contract it that your doctor can diagnose and treat it quickly or you may end up dead or needing a new liver or with permanent brain damage.

Wilson’s Disease results in a deficiency of ceruloplasmin, a protein that carries copper in the blood. Without enough of this protein, copper slowly collects in the liver and eventually destroys the organ by causing cirrhosis. Copper deposited in the brain, kidneys, eyes, and other organs can also cause irreversible damage. A tell-tale sign of the disease is copper-colored rings around the pupils of the eyes.

If detected in time, Wilson’s Disease can be treated with penicillamine, a drug that helps the body excrete excess amounts of copper.

Rare diseases like this one are often difficult to diagnose. Someone calculated that a doctor seeing 3 patients a day would probably encounter only one case of Wilson’s Disease in 40 years. You hear horror stories of children being subjected to years of behavioral therapy because they have not been successfully diagnosed.

I was talking about this with my friend, an acupuncturist who for several years worked part-time at Walter Reed. She was almost certain one of her patients who was somewhat brain-damaged was also suffering from Wilson’s Disease because of the rings in his eyes. She even consulted her brother, an ophthalmologist, to confirm. And yet his doctors did not actively pursue the diagnosis. This was clearly a case where the veteran was at a disadvantage because he could not advocate for himself.

Just this week there was an article in the New York Times about an American teenager who while traveling in Israel became seriously ill. She was diagnosed with an advanced case of Wilson’s Disease that was shutting down her liver. She was medivac-ed back to New York, where heroic measures were taken to assure her an immediate liver transplant. She is one of the fortunate to survive this devastating disease.

The next time you find yourself suffering mysterious symptoms that can’t be explained, make sure your doctor considers Wilson’s Disease, Lyme Disease, and other such rare ailments that can cause such serious damage to the body if left untreated. And take a good look at your eyes.