How has Charlie Knuth’s life changed since his second stem cell transplant at the University of Minnesota Children’s Hospital?
For starters, the 8-year-old boy—diagnosed at birth with epidermolysis bullosa (EB)—can finally wear shoes. He can take a bath without much pain. He can play with his 10-year-old sister without much worry. And he can go to school—nearly all day, five days a week.
“I can breathe a lot easier now,” says mother Trisha Knuth, who, along with husband Kevin, has worked toward this day since adopting Charlie as a baby.
EB prevents the creation of a protein that bonds layers of skin. Even minor friction causes blisters, tears, and wounds. Painfully debilitating, the rare genetic disorder has been traditionally treated with daily wound care, pain management, and protective bandaging. But there has been no formal treatment and no cure.
Enter John Wagner, M.D., and Jakub Tolar, M.D., Ph.D., a bone marrow transplant team and two of the world’s leading EB researchers. They’ve led the stem-cell transplant efforts at University of Minnesota Children’s Hospital and are now pioneering gene editing.
Charlie’s first stem cell transplant in December 2010 was successful, giving him the “best year and a half of his life,” says Trisha. Unfortunately, a virus wreaked havoc with his immune system, and Charlie had to endure again the arduous process leading up to a second transplant in July 2012.
Today, Charlie’s immune system is nearly fully recovered, his body is 100 percent engrafted with donor cells, and 11 percent of his skin cells he owes to a donor.
Meanwhile, Wagner and Tolar, along with the Knuths, await FDA news that will allow them to take a revolutionary step: correcting a defective gene in Charlie’s DNA.
“Charlie is the kid,” says Trisha. “He’s going to change the course of treatment for EB.”
“The research of rare diseases often leads to cures for rare and common ones. And, of course, children should not have to suffer so intensely every day of their lives.” —Trisha Knuth, mother of Charlie, age 8, who was diagnosed with epidermolysis bullosa at birth