Stem Cell Research Leads to Possible Cure for the Rare Disease RDEB

Until Theresa Liao and her two little boys arrived in Minnesota from New Jersey in fall 2007, I had never heard of Recessive Dystrophic Epidermolysis Bullosa (RDEB). Liao came to the University of Minnesota (U of M) to pursue a possible cure for her sons' incurable disease, and it appears she has found her wish. Knowing individuals who work at the U of M where the experimental bone marrow transplants took place, I've learned a great deal about this devastating genetic disease and have followed the treatment and progress of both 2-year-old Nate and 5-year-old Jake. I have also followed news accounts of the family's story and interviews.

Recessive dystrophic epidermolysis bullosa is one form of a larger category of the genetic skin disease called epidermolysis bullosa (EB). Although EB is relatively rare in terms of the overall population, it is painful and can leave a person debilitated, if not devastated; it can be fatal in severe cases.

EB can range from mild to severe and manifests as extremely fragile skin that blisters with even the mildest trauma. Blistering and sloughing of the skin can occur from a simple bump, a scrape or even something as slight as a rub or a change in temperature. In the more severe cases, disabling scarring follows the blistering. In such cases, the scars cause deformities when fusion of the fingers and toes occurs or the skin at the elbows and knees tightens and pulls, leaving the limbs in a flexed position. If blistering and scarring involves the mouth and esophagus, eating and swallowing can be seriously affected.

What causes EB? According to http://poweredby.kosmix.com/Health/dystrophic_epidermolysis_bullosa/-pid-infospace-s, there isn't an easy or simple answer. What doctors do know is that it's genetic. However, not every child born to a person who carries the gene will be born with the disease. Where the disease is present in a child and both parents carried the gene, a more severe, recessive form of EB, such as RDEB, is likely to occur.

Two of Liao's four children were diagnosed at birth with the RDEB form of epidermolysis bullosa. That means their bodies are unable on their own to make a protein which is needed to form the collagen that holds the layers of their skin together. As a result, even slight trauma to their skin caused huge blisters to develop, and the skin sloughed off. Nate's RDEB was so severe that he was unable to eat anything but pureed food because the disease affected the lining of his mouth, esophagus and intestinal tract.

In her quest for a cure, Liao challenged a U of M doctor she'd met years earlier to find an answer for this devastating disease. At that time, only her son Jake had the disease. Her challenge was followed by a Columbia University study done using animal models and stem cells from bone marrow and umbilical cord blood. Scientists were looking for that missing protein. After numerous tests, a possibility was found. Liao was notified of the possible discovery. A short time later, she gave birth to Nate, who was also diagnosed with RDEB. Two years later, in October 2007, Nate received a bone marrow transplant to treat his RDEB. His donor was an older brother who was a perfect match. But miracles didn't stop there. On May 30, 2008, 5-year-old Jake also received a bone marrow transplant.

Although Jake's surgery was less than a month ago, all looks promising. According to my friends at the U of M, Liao's doctors are hopeful that both Nate and Jake will ultimately have healthy skin and be able to live normal healthy lives. Although the progress and change in their skin condition is gradual, the family is hopeful that both boys are well on their way to being cured of RDEB by the end of the year. Clinical trials in the treatment of children with recessive dystrophic epidermolysis bullosa are continuing at the U of M.

Resource:

Article entitled "Epidermolysis Bullosa Guide;" http://poweredby.kosmix.com/Health/dystrophic_epidermolysis_bullosa/-pid-infospace-s