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RARE DISEASE BRINGS PAIN, SCARRING . . . DEATH

When Gary and Lynn Fechser Anderson's son was born with three popped blood blisters, the doctors thought they were just side effects from the birth. But over time they learned those blisters, which rapidly multiplied, and the open wounds that appeared and wouldn't heal, were actually the life-threatening genetic skin disease Epidermolysis Bullosa (EB).

The Andersons had no idea they were both recessive carriers of the disease. "Our chances were 1 in 4 pregnancies that we would have a child with the disease," Lynn said. After their son, they adopted two children and then had their own daughter - another EB baby."When my daughter died at age 14, 80 percent of her body was open wounds." Lynn said. "When my son died at age 27, he weighed only 84 pounds."

According to Anderson, those carrying severe forms of the disease usually don't live past 30.

Although there are more than 50,000 sufferers nationwide, Anderson said they have been able to identify only 20 families in Utah with a member currently fighting the disease.

"There are a number of children in Utah who have died from the disease," said Dr. Larry Meyer, Geneticist and Dermatologist at the University of Utah Medical Center.

Meyer said in its simplest form EB causes blistering of the outer layer of skin, causing mild irritation and usually in just one area of the body. Many families in Utah have that problem, he said. However, Junctional EB goes deeper between the epidermis and dermis. The connecting fibrils between the layers of skin are defective, causing blisters and wounds below the surface.

In its worst form, Dystrophic EB can cause crying babies and coughing children to form blisters on the esophagus. Their eyeballs may blister from blinking or rapid eye movement during REM sleep. The very severely affected may experience blistering between the fingers whose healing will meld the fingers together to look somewhat like a mitten.

Although EB is life threatening on its own, the three main causes of death in EB patients are severe infection, heart failure and skin cancer. Side effects of the disease may include malnutrition, stunted growth, anemia and hand and foot deformities.

"It is a very work-intensive disease," Anderson said. Anderson's children needed bathing every day to slough off dead skin. "The whirlpool bath took two to three hours and was very painful. It's like third-degree burns that never heal. It's a very hard and discouraging disease to live with.

"I asked my son at age 17 what one thing he would change about the disease," Anderson said. "I thought he would say no scars, but he said, `to have one day without pain.' "

The disease is also very costly. "We had wonderful insurance," Anderson said. "But we still had between $15,000 and $30,000 out-of-pocket each year. One woman in Dugway spends $300 a month just on bandages."

After more than 35 years of medical research, scientists are at the threshold of a treatment that can change the lives of EB children forever. "They have been able to genetically engineer genes to put healthy genes in the body," Anderson said.

For this reason, and because EB is considered an "orphan disease," and research receives little government funding, the Andersons established the EB Medical Research Foundation in 1990 with the sole mission of relieving the suffering of EB children and by providing funding for that research.

For more information about the EB foundation or to make donations contact Lynn Anderson, president, at 130 Sandringham Road, Piedmont, CA 94611.