Waiting outside operating rooms and doctors offices has become a way of life for a New Jersey family fighting a rare disease.
It's a skin disease that could kill Nate Liao, 2, and his brother Jacob, 5.
Epidermolysis Bullosa (EB) affects one in every 50,000 children. The disease prevents skin from attaching to the body. Even the slightest touch or bump can result in painful blisters all over the body.
Theresa Liao knows the disease all too well.
She spends four to five hours a day bandaging her sons' wounds. She knows they're in constant pain. And she knows that if nothing changes they will die in their teenage years from an aggressive form of skin cancer.
That's why she's made it her mission to find a cure for EB. Theresa Liao found that hope at the University of Minnesota, when she met Dr. John Wagner, who is head of the Bone Marrow Transplant division.
"We kind of showed Dr. Wagner, we thrust Jacob at him and said look at this nobody seems to understand the horror of this disease, no one can even conceptualize that your child doesn't have skin. I looked at him and I said, 'I'm never going to stop,'" Theresa Liao said.
That encounter made such an impression on Dr. Wagner that he gathered a team of doctors at the University and began researching a cure.
"We went back to the lab, and we got the mice that have been engineered to have the same disease as this boy has and we brought them here, established a colony of these mice and then went with our best guesses," said Dr. Jakob Tolar, another doctor on the research team.
Through a process of elimination, Dr. Tolar and researchers, isolated the group of cells that produces the collagen EB patients are missing.
Through bone marrow transplants, using healthy mice, the mice with EB began duplicating healthy cells, and began producing that all-important protein. Not only did they begin to improve, 25 percent of the mice were cured.
Armed with the study, the doctors and Theresa decided that Nate would become the first human to receive the treatment for EB.
It would require a risky bone marrow transplant at the U of M.
So, Theresa moved three of her four sons and the family's beloved nanny from New Jersey to a small hotel room in downtown Minneapolis.
Though they didn't know it, Theresa and her husband both carry the gene for EB. That meant a 25 percent chance that their children would have the disease.
Their first son, Noah, 8, is healthy. So is their third son, Julian, 3.
Five months ago, Julian donated his bone marrow to his little brother Nate, who happened to be a perfect match. The hope is that Julian's healthy cells will start duplicating in Nate, and Nate's little body will start producing the fibrils needed to attach skin.
Already, calls are coming in from around the world.
"It's really caught worldwide attention because it was previously considered a hopeless disease and we've now provided hope," said Dr. Wagner.
"The benefit is it helps everybody else, but I did it for my kids, and my family," Theresa said.
While the family waits for final word on the success of the treatment, Theresa is at least relieved that someone is trying to find a cure.
"My child is not going to look at me and say, 'did you do everything you could have done, did you do everything you could have done when he is 16 and dying of cancer, or 14 and he has cancer,'" Theresa said. "Or when he can't walk and he says 'did you do everything you could for me.' I will go to sleep with a good conscience."
(Copyright 2008 by KARE. All Rights Reserved.)