Stem Cells save Two Brothers

June 2, 2008 12:00:00 AM PDT
It's a painful and devastating condition that causes the skin to blister and fall off at the slightest touch. Recessive dystrophic epidermolysis bullosa -- or RDEB -- occurs in one in every one million births.In one family, two boys have the disease, but their mom won't rest until she finds a cure.

Little Nate Liao lives with constant, painful, blistering skin. He and his five-year-old brother Jake have the worst form of a genetic skin disease called epidermalysis bullosa, or EB.

"If you can imagine the worst blister you may get on your foot -- multiply that by a thousand," their mother, Theresa, says.

Theresa and her husband Roger both carry the gene for EB. For two of their four sons, it means enduring years of painful wounds that lead to an aggressive skin cancer. There is no treatment. Theresa can only bandage the boys from head to toe. Already, Jake's fingers have fused together from repeated scarring and he's lost all his toes.

"He had such severe problems with hands when he was born, you could literally blow on them and the skin would separate," Theresa says.

Teresa researched the disease and the possibility of a cure using stem cells. Doctors at the University of Minnesota studied lab mice with EB. The mice -- like the brothers -- lack a protein that keeps skin together.

"It works like a Velcro. It works like having tiny fibrils, many of them that will keep the layers together and if they are not kept together, then the blisters develop," says Jakub Tolar, M.D., Ph.D., a bone marrow transplant physician at the University of Minnesota in Minneapolis, Minn.

Doctors infused healthy stem cells -- by way of bone marrow transplants -- into the sick mice. And the blisters disappeared! After that success in the lab, Nate became the first human to receive a bone marrow transplant to treat EB. His healthy three-year-old brother Jullian was the donor.

"You have to know that your child could die. But I know my child could die anyway and this was a chance to make it better," Theresa says.

It will be several more weeks before doctors know if the stem cell treatment worked, but Theresa thinks Nate has shown some improvement. Whether or not it works for the Liao family, doctors believe this could help people with a variety of skin diseases.

FOR MORE INFORMATION, PLEASE CONTACT:
University of Minnesota Pediatrics
www.prc.umn.edu/peds/bmt/home



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