Apr 2, 2007

Rare, painful skin disease makes girl's life a hardship

Family raises funds to boost awareness, support EB research

By Christine Morente / MediaNews

Sitting cross-legged on her bedroom floor, Christina Minkey takes her left foot and carefully cuts away at the thin layer of blistering dead skin, despite the pain.

Her mother Lesley watches her 7-year-old daughter perform the painstaking ritual every morning and afternoon. Lesley squirts Miracle Mist salve to cool and soothe Christina's feet.

"This is her life," said Lesley, of San Carlos. "She has to take care of herself like this. For us, now it's just a learning curve. How much can you do before making a blister?"

"Ow, ow, ow, ow!" said Christina, as Lesley raised a sleeve to check on the blisters that formed inside the crook of the little girl's elbow.

Christina lives with epidermolysis bullosa, or EB, a rare and often fatal disease where any kind of bodily friction causes blistering. Healing is a very slow process.

About 25,000 people are afflicted with the condition nationwide. People with EB lack a protein layer that holds skin together. In the genetic disorder's most severe form, wounds don't heal and internal organs break down. Disfigurement is common.

"It's very painful," said Lisa Taylor, a nurse coordinator for Stanford University's genetics skin disease program. "Can you imagine never having a day without pain? And these kids have pain every day. It's hard for people to understand it's a total disease."

Most people with the more severe EB only live until their early 20s, eventually dying of skin cancer.

At Stanford University's EB Clinic, researchers are working to find a cure and are seeking approval by the FDA to start clinical trials on gene therapy, said Peter Marinkovich, an associate professor at Stanford.

In the therapy, he said, skin cells are removed and normal genes with protein are grafted onto the patient.

Marinkovich said he expects the procedure to produce long-lasting or permanent correction to the skin for those with a more severe condition. Clinical trials could begin within the next couple of years.

Christina's doctors expect her to have a normal life span. With only her top layer of skin affected, her feet and hands are mostly covered in blisters. Christina was diagnosed with EB at three days old. Lesley and her husband Jim had just adopted her while Lesley was two months pregnant with Elena, her now 6-year-old sister.

Christina remembers what it was like learning how to walk with blisters on her heels. "It just kept hurting," she said, her raspy voice barely audible. "No, I won't get used to the pain. (Blisters) are not fun."

Today, she crawls through her house on her hands and knees to keep the pressure off her feet. At Grace Lutheran School in San Mateo, the second-grader zips around in a custom-made tricycle.

"Some kids don't notice the blisters anymore," said Lesley, who is a part-time flight attendant out of San Francisco International Airport. "They're protective of her, and they love her."

On some nights, pain keeps Christina awake.

"You feel so out of control," Lesley said. "Everything I can do for her skin is still going to make a blister."

Christina wants to help people with the same disease, so she is telling her story in, "Living with Epidermolysis Bullosa," a collection of EB stories from across the country. She wants to be a writer when she grows up.

Anyone interested can send a donation to the Epidermolysis Bullosa Medical Research Foundation at 130 Sandringham Road, Piedmont, CA 94611. For more information, visit www.ebkids.org.