An Orphan Disease -- Jamie’s Story 

Jamie Gibson wondered, as a child, when the pain would stop.

She cried every day as her skin would break and heal and break and heal again. She watched the blisters fester over her entire body and felt them inside her throat, as the scabs continuously scarred and healed. She watched as the skin on her fingers fused together like clubs.

Jamie also wondered, as she grew, if there would ever be a cure for her. She has Epidemolysis Bullosa (EB), a rare genetic disorder that makes the skin on her body extremely fragile. It’s so rare that it affects only an estimated 50,000 to 100,000 people in America. It’s so rare that it has attracted little

research. In the big-money world of pharmaceutical research, diseases like Jamie’s don’t make a profit. In the high-stakes game of drug company research, it’s an orphan disease, a disease few care about, a disease that has no home.

“The incidence of the disease is not high enough to warrant research from the pharmaceutical companies,” said Lynn Anderson, the president of the EB Research Foundation. “They’re a business and have to make a profit. It isn’t worth it to them economically for that reason.”

EB may affect relatively few people, but when a child is born with EB, it changes the entire family. Jim and Sheila Gibson had never heard of EB when they looked forward to the birth of their second son, Ben, in 1976. His older brother, Aaron, had been born healthy just two years earlier.

The Utah couple was stationed in Japan for Jim’s job as an Army computer programmer. But when Ben was born in the military hospital, the doctors noticed something wrong with him. “Before I got a chance to hold him, the doctors rushed him away,” Sheila said.

There were problems with his skin. There were open sores where parts of his skin had rubbed off from the simple pressure of bumping up against the womb or rubbing his tiny feet together. “Just to touch him would make his skin come off,” Sheila said. He developed a staphylococcus infection. He went from eight pounds to five pounds as he stayed three weeks in the hospital.

Finally Sheila was allowed to bring her baby boy home. “They told us to love him and make him feel as comfortable as possible,” Sheila said, knowing that there was no cure. Sheila and Jim started trying to treat the wounds with burn therapy.

Soon Sheila found out she was pregnant again, and when Jamie was born 13 months after Ben, she had the same open sores at birth. Sheila had begun the painful process of being a mother of EB children.

Often, in the severest forms of EB, the open sores can cover up to 75 percent of a child’s body. Even the slightest pressure can cause the skin to blister, die and fall off, exposing the raw and bloody tissue underneath. Children have to be medicated in order to take baths, but the pain still rips through them as their open skin comes in contact with the water.

Every morning, Sheila would gingerly take the massive bandages off her children. “It was hard, because if you aren’t careful, you can take the skin off with the bandages,” she said. Then she would put the ointment on and carefully wrap the new bandages over their hands and arms and all over their bodies.

In their early childhood, Ben and Jamie would toddle around together in their bandages, wrapped up like mummies. When one would fall, the other would try to give comfort. “They could relate to each other,” Sheila said. “They took care of each other. When one would get hurt, the other would try to help.”

In many ways they were normal kids. Ben liked Nintendo. Jamie liked Barbie. They would make up plays, using their toys as props. They would act out funny scenes and chuckle together. Some people thought they were twins as they played together, although Ben had light blond hair and blue eyes, while Jamie’s hair was a little bit darker and her eyes were brown. But there were other differences between them. Jamie was stronger. Ben’s case of EB was a little more severe. Jamie could do some things the normal kids could do, but Ben had to spend more time on the sidelines.

Ben had his own way of finding fun. He loved to draw, especially cartooning. He liked to write. He loved science fiction. “He was a pretty good writer,” Sheila said. “He had a good imagination.” Ben liked to gather his friends together and create universes and have imaginary adventures. He and a friend talked about writing a comic book together when he was a teenager. But the disease took its toll as Jamie and Ben grew. In kids with the most severe form of EB, the disease starts with the blisters on the skin. Then, the symptoms move inside as the esophagus starts scarring and closing. Cancer invades as the child grows older. Most people with severe forms of EB don’t live to be 30.

As his teen years wore on, Ben started turning down treatments. His last surgery was early in 1987 when he was 11 years old. It was an operation on his hands to try and keep the fingers from becoming webbed together. But he went through a lot of pain as part of the healing. “Mom, I don’t want to go through this anymore,” he said as his mom was changing the bandages from the operation, which was a painful process for him.

He started declining operations meant to prolong his life because he couldn’t face the pain those procedures would bring him. Other EB kids would have a stomach tube put in as their esophagus started closing, but not Ben. As time went on, Ben got weaker. It was hard for him to eat. Sometimes it was hard for him to breathe because of the raw wounds on his chest and stomach.

On Oct. 13, 1995, Sheila was spending some time with Ben, who was then 19 but looked like a 12-year-old because the EB had stunted his growth. She told him to clean his room, and he said OK, which was unusual for him. He walked over to his room, and he and his mother spoke for a few minutes from the two separate rooms. He called out, “I love you, mom,” and she said she loved him too. Then he called his dog, a Husky-Retriever mix named He-boo, into his room, and was silent.

About 20 minutes later, Jim came home and walked by Ben’s room. He called out to Sheila, “What’s wrong with Ben?” Ben never kneeled because it was too painful for his knees, but when Jim saw him, he was kneeling by the side of his bed as if in prayer. He-boo was on the floor, snuggled up against the boy.

Jim knelt by Ben’s side and gently kissed him on the back of his neck. That’s when he felt the coolness of Ben’s skin, the stillness of his body. Jim realized that his gentle boy was dead. His spirit had slipped from his child-sized body as quietly as a whisper that crisp October afternoon.

Sheila never expected he would go so quickly. She thought there would be some time in the hospital, some time to say goodbye, some time to get emotionally ready, instead of him leaving so suddenly. She believes he was praying to leave this life. “He prayed his way out,” Sheila said.

When Jamie and Ben were younger, they cried daily from the pain. Jamie’s tears fell less often when she reached junior high, but Ben’s tears never decreased. “I don’t know that he ever did stop crying,” Jamie said.

After Ben died, Jamie kept on living. She fought on, getting surgery after surgery. She was determined to live as normal a life as possible. “She played drums until her hands got too crippled, then she switched to the xylophone,” Sheila said. “When her hands got too crippled for that, she started singing.”

But even with her determination to fight, the teen years were hard for her. That’s when she fully realized that she would never get married, never have children, never live to be 30 years old. “In high school I got really depressed over life,” Jamie said. “That’s when I realized that life was going to be different. She had the same dreams as other high school girls. “I wanted to go to college, get married, have kids,” Jamie said, “but I realized it wasn’t going to be that way. With EB, the pain of it wasn’t as hard as the disappointment of not being able to do what I wanted to do.”

Today, at 23, she could pass for a teenager, with a fresh face and innocent look. As her health permits, she attends BYU. She lives away from home with roommates. A nurse comes in each morning to help her bandage her wounds. The wounds don’t hurt quite as much anymore. They’ve broken and scabbed so many times that the skin has toughened.

As she sits in class, she writes with the pencil held between her thumb and the rest of her hand that has grown club-like as her skin formed like a mitten over her fingers. Jamie sings. She attends a choir class. It’s a challenge, because she’s had her esophagus operated on to keep it open so she can breathe and eat and sing.

But Jamie’s time may be running out. Last summer, the doctors found cancer on Jamie’s skin, a common side effect of EB, and one of the first steps toward the end of life. She sat in her apartment last summer as she faced the specter of cancer, gazing wistfully out the window at the other apartments where her friends lived. “I don’t want my friends to find out I have cancer,” she said at the time. She didn’t want them to be concerned.

But there was an even deeper reason she didn’t want them to know. When she was with her friends, she could forget, for just a few minutes, the disease that had haunted her all her life. She didn’t want the cancer to change that.

A few weeks later the doctors removed several layers of skin to get rid of the cancer. In a temporary victory, they were able to excise all the cancer. “They told us that we won the battle, but eventually were going to lose the war,” Jim said.

EB parents use the term “orphan disease” when they talk about the disease that has brought so much pain into their lives. The term comes from an FDA designation called an orphan drug, which is a medicine developed for very few people. The parents know it’s rare. They know it’s not well-known. But they’re wistful as they think about what could be done if more resources were dedicated to its research. The few doctors and scientists involved in EB research are buried in the slow, arduous process of finding a cure. Researchers are scattered around the country, but some are centered at Stanford University. With the help of some corporate and private donations and a grant from The National Institute of Health, the researchers at Stanford have spent several years experimenting with a gene therapy that would replace the defective gene in the skin.

This past year, the researchers have gone through the lengthy and grinding process of seeking FDA approval for the experimental treatment. As the months pass, they work with the FDA and wait for the approval to come. “It won’t be this year,” said Dr. Alfred Lane, chairman of the department of dermatology at Stanford. “Perhaps next year.”

It may not be in time to save Jamie. And in the beginning, the new therapy will only treat the outer skin. It won’t affect the esophagus, which tends to close up and prevent the sufferer from eating or breathing. It won’t treat the cancer, an aggressive silent threat that returns again and again to those with the severe form of EB. That research, hopefully, will come, but not for a few years.

“Live each day,” Sheila Gibson says to Jamie. “No one knows when they’re going to die. You may as well live life to the fullest.”

As Jamie attends her classes and goes to concerts, she tries to live as normal a life as she can—to forget that she has EB. She hopes they find a cure that will help her live. She’s always lived life with a passion, and she wants to live on. But she’s pragmatic about the researchers’ race against time. She’s ready if they don’t find a cure in time for her. She believes that after she dies, her spirit will be able to dance and sing and play with no pain, something she’s never experienced. Then the orphan disease that has plagued her all her life will be just a distant memory to her.

“I’m not afraid of dying,” she said. “I feel at peace.”