Theresa Liao doesn’t take “No” for an answer. Her determination as a caring mother has found new hope for her 22-month-old son Nate, who suffers from a rare genetic skin disease known as recessive dystrophic epidermolysis bullosa, also called RDEB or EB for short.

People with RDEB lack a protein needed to produce collagen VII, which anchors the outer skin layer (epidermis) to the inner layer (dermis). As a result, any action that creates friction between the layers (rubbing, pressure, simple bumps, bruises and scrapes) can cause their skin to blister and even peel off. It also affects the lining of the mouth, esophagus and intestinal tract. There is no treatment for this disease, only bandages from the neck down to protect against blisters, wounds and infection.

Theresa and her husband, Roger, both of whom unknowingly had the RDEB gene, have two sons with the most severe form of RDEB, Nate and his 5-year-old brother Jacob, who was born with no skin on his legs from the knees down. Nate has never had skin stabilize on his right foot. Theresa spends much of her day bandaging her two sons to protect them from the complications of this disease. Despite these precautions, people with RDEB often die young from an aggressive form of skin cancer or other complications.

In 2004, Theresa searched far and wide for treatment options for Jacob — there were none. She had hope, however, after hearing about the potential of stem cell transplantation. Doctors told her about Dr. John Wagner, a pioneer in umbilical cord blood transplantation from the University of Minnesota and Chief Medical Advisor for Children’s Cancer Research Fund.

Theresa soon met Wagner when he came to New York to give a presentation on stem cells. She thrust Jacob into Wagner’s view and asked him to save her child from this horrible disease. Wagner recalls her commenting, “You either get on the train and help me or get out of my way. I have to do what I can to save my child.”

Wagner returned to the University of Minnesota where he began working with Drs. Jakub Tolar and Bruce Blazar and collaborating with researchers at Columbia University in New York and Jefferson Medical College in Philadelphia to develop a lab model that might establish the ‘proof of principle’ that stem cell therapies could cure RDEB.

The collaboration worked! U of M researchers were able to show that bone marrow cells could produce the missing protein and correct the disease. This is the first time physicians have approached EB from a systemic perspective, using transplant as a means to correct this disease that affects both the skin and lining cells of the gastrointestinal tract.

By supporting the University of Minnesota Cancer Center’s Stem Cell Biology Program, Children’s Cancer Research Fund is enabling University researchers to continue their pioneering research in blood and marrow transplantation and expand their efforts into regenerative medicine.

On Oct. 19, 2007, young Nate underwent a risky experimental operation at the University of Minnesota Children’s Hospital, Fairview in which he received stem cells from his healthy brother, Julian. Dr. Wagner performed Nate’s procedure — the world’s first for EB. This procedure was performed as part of a clinical trial funded in part by Children’s Cancer Research Fund. Within days of the transplant, Theresa and Dr. Wagner were appearing on local and national news programs to discuss the groundbreaking procedure.

On January 24, 2008, doctors took a 100-day biopsy. Although it’s still too early to fully determine the effectiveness of the procedure, results look promising. Theresa knows it’s early in the treatment process, but the important thing is that there is new hope not only for Nate, but for his brother Jacob and other children with RDEB as well. In fact, they are currently looking for blood and marrow donor matches for Jacob, who will be the world’s second recipient of the procedure.

Listen to Nate's Story Here


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