Enzyme therapy allows child with rare genetic mutation comfort closer to home




Posted on October 29, 2012 at 1:23 PM

DALLAS -- Being poked and prodded is nothing for eight-year-old Tearrian Salois, who often feels like he's on fire -- from the inside out.

"Sometimes my feet burn and my hands burn because of the disease," he explained. "It hurts really bad."

Tearrian has Fabry disease; a rare, painful, and potentially-deadly genetic mutation that causes dangerous fats to build up in blood vessels, tissues and organs. For more than a year, Tearrian has traveled from Montana to Dallas every week for experimental enzyme therapy that relieves the burn.

The treatment is part of a clinical trial at Baylor's Institute for Metabolic Disease. The institute specializes in cutting-edge research and treatment for genetic diseases so unusual, they affect only a handful of people on the planet.

"Some adults were actually committing suicide because they were suffering so much from the effects of this disease," said Dr. Raphael Schiffmann, a pediatric neurologist who has overseen Tearrian's case. "Yet, the tests were normal."

Schiffmann and Tearrian's family were frustrated when the manufacturer decided to discontinue the clinical trial that helped make Tearrian's life bearable. Often, when drugs for uncommon diseases go away, patients die.

"It would've hurt," said Tearrian's mother Tina, through tears. "I would've have to watch him suffer. Because sometimes the over-the-counter drugs don't help."

Instead, the institute and Tina Salois fought to get Tearrian on an adult drug that he could receive through an infusion closer to home.

Last Tuesday was his last treatment in Dallas. Everyone associated with his case hopes it also symbolized his first step toward being a healthy homebody.

E-mail jstjames@wfaa.com