One in a Million Diagnoses Saves Teacher's Life

TYLER,TX—When Kai Xia, MD, a gastroenterologist, relocated her practice and research to Trinity Clinic with the Trinity Mother Frances Health System in Tyler, Texas, from Harvard Medical’s Brigham and Women’s Hospital, she never dreamed she would see one of the world’s rarest genetic diseases.

Wilson’s Disease, a genetic disorder that is fatal unless treated, causes toxic build-ups of copper in the liver, brain, and eyes. If left untreated it can cause irreversible damage and may require a liver transplant.

“I had only read about this disease in textbooks at Harvard. I had never actually seen an actual case until now,” says Dr. Xia, who spent 20 years at Brigham and Women’s Hospital before choosing five months ago to join the gastroenterology department at one of the south’s fastest growing physician practices, Trinity Clinic.

In fact, Wilson’s Disease is so rare that it only affects approximately one in 30,000 people worldwide. Statistically, it is estimated that only 8,000-9,000 people in the United States have been diagnosed with Wilson’s Disease, with at least 1,000 more possibly undiagnosed.

The patient, Bob Walters, a 27-year-old high school agriculture science teacher, from Henderson, Texas, states his life changed forever when he received the diagnosis that he was suffering from this rare disorder.

“I was experiencing fatigue, severe headaches and stomach cramps. My legs swelled and I had these intense nosebleeds. I never even realized that I was jaundiced,” Walter said. “I was relieved, though, to get an accurate diagnosis so quickly.”

“Since Wilson’s Disease is one of the rarer diseases, there is no one way proven to treat it yet. For Mr. Walters I’m simply trying to get his copper level down back to a normal level so I’ve altered his diet tremendously. I’m trying to buy him time until he needs a liver transplant,” says Dr. Xia.

For now, Walters is just grateful to have regained control over his life and over this disease. He is grateful for Dr. Xia.

“Without Dr. Xia and the team at Trinity Clinic, I would have probably just gotten sicker and sicker never even knowing what was causing my illness,” says Walter. “The outcome would have not been good.”