Mother’s gamble works: Boy whose skin can’t attach is healing

Published: June 3, 2008 | 7113th good news item since 2003

Two-year-old Nate Liao has spent his young life swathed in bandages from head to toe.

Nate has a rare and deadly genetic disease that prevents his skin from attaching to his body. The slightest friction against his skin, such as the rubbing of the seam from his shirt, gave him blisters the size of water balloons. Swallowing anything but baby food tore his esophagus.

Yet today, seven months after an experimental therapy at the University of Minnesota Children’s Hospital Fairview, the New Jersey toddler is eating Oreos. He’s slurping chicken noodle soup, cleaning his bowl and holding up his spoon for more. He’s wearing a regular T-shirt. And, for at least a few hours a day, some of his bandages are coming off.

For the first time, doctors say, they appear to have cured the disease Nate has, called epidermolysis bullosa.

“Every now and then, you really feel like you’ve done something great,” says John Wagner, a hematologist at the University of Minnesota Medical School who oversaw Nate’s therapy, a bone marrow transplant from his healthy 3-year-old brother, Julian. Doctors did the transplant to give Nate a vital protein that he was born without. That protein, collagen VII, glues the outermost layer of skin to the underlying layer, Wagner says.

The goal was for stem cells from the transplanted bone marrow to travel to Nate’s skin and begin to make collagen VII once they arrive, says Angela Christiano of Columbia University, who identified the gene for Nate’s disease and collaborated on his therapy.

The procedure, like all bone marrow transplants, was risky. Before they delivered the healthy bone marrow, doctors first administered intensive chemotherapy to kill off Nate’s immune system and prevent his body from rejecting his brother’s cells. A child like Nate, who has so many open wounds, would be left especially vulnerable to infection.

But Nate was lucky, Wagner says. His brother’s blood was a perfect match, which cut the risk of rejection.

Nate recovered from the surgery and even gained weight, says his mother, Theresa Liao, who has met with many researchers over the years to push for a cure.

Best of all, tests show that Nate’s body is making collagen VII. The transplant, Wagner says, seems to have cured the underlying genetic mistake that causes Nate’s disease.

But doctors don’t need lab tests to see the difference in Nate.

Nate today looks like a different child, Wagner says. His face has plumped up, and he has fewer blisters. Nate’s skin, which once looked like cellophane, now looks more normal, his mother says. Nate is even tough enough to bounce back after being hit by Julian with a toy train.

“They’re horsing around like brothers, instead of everyone saying, ‘Don’t hurt the baby,’ ” Liao says.

Wagner says he hopes Nate’s body will continue to make more collagen VII over time.

The protein won’t erase Nate’s scars, Wagner says. But, as the boy grows, his scars should appear proportionally smaller. With fewer wounds, Nate should have a lower risk of infection. He will become better nourished as cells lining his digestive system heal. And, most of all, doctors hope Nate will be spared from the aggressive skin cancer that kills many patients in their 20s.

Now, Nate’s parents and doctors are hoping for a second miracle. His 5-year-old brother, Jake, who has the same rare disease, is undergoing a transplant at the University of Minnesota. Jake faces tougher odds, Wagner says. Doctors couldn’t find a perfectly matched donor, so he’s receiving a match from an unrelated donor.

And because Jake is older, he has suffered far more scarring. He has lost the tips of his fingers, and his fingers have fused together. If the transplant cures his disease, surgeons will try to repair the damage, Wagner says.

Right now, Julian, Jake, Nate and their mother are in Minneapolis as Jake receives treatment. The father, Roger Liao, remains in New Jersey with a fourth son, who is healthy.

Scientists around the world will pay close attention to a news conference today as doctors present their research for the first time. If Nate has benefited from the transplant, other doctors will try to offer them, as well.

“It’s extremely exciting,” says Dennis Roop, a stem-cell expert at the University of Colorado-Denver Anschutz Medical Campus.

Jonathan Vogel, a senior investigator in dermatology at the National Cancer Institute, cautions that other patients may not respond as well as Nate. Experiments in mice — performed before doctors tried the therapy on Nate — cured only three of 13. Doctors also may want to wait before declaring Nate cured, to see if his condition continues to improve, he says.

But the boys’ mother says the therapy is an answer to a prayer. Ever since her first son was born with this disease, she says, “I made him a promise, to do whatever I could to make him better or make this go away. I’m doing my best to keep that promise.”

Published in Science & Technology
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