Clinic gives parents crash course in disease management
Eight-year-old Garrett Spaulding got a bike for Christmas. He rides with abandon, oblivious to the ever-present bandages on his arms. And his legs. And his neck, face, feet and fingers.
Garrett has epidermolysis bullosa, or EB, a painful disease that causes his skin to blister and fall off at the slightest friction. But that condition—and the lack of a cure—doesn't stop him.
"We have a 'patch and go' philosophy," said Garrett's mother, Lorraine Spaulding, whose involvement with EB extends beyond the daily care of her son. She recently became the Lucile Packard Children's Hospital coordinator for the only clinic in California specializing in the care of kids with EB.
Garrett and other children with EB drew the short stick in a cruel genetic lottery. Each of them is missing one or more key molecules needed to anchor the inner and outer layers of skin together. Without this critical connection the layers slide freely past one another, inviting blistering, infection and pain. About one in 20,000 children in this country are born with EB, and the severely affected die young, succumbing to massive infection from their many open wounds or the skin cancer that occurs at high rates in many EB patients.
As the clinic's coordinator, Lorraine helps the families of EB patients from around the state schedule appointments with pediatric dermatologists Anna Bruckner, MD, and Alfred Lane, MD, as well as with the pain specialists, social workers, gastroenterologists and hematologists who join forces to treat all aspects of the condition. The convergence of specialists experienced in treating the condition makes Packard Hospital unique among children's hospitals on the West Coast and one of only a few nationwide. Several dozen children with EB now come regularly to the clinic, and the number is growing rapidly as word of the clinic spreads.
"There's so much involved in the care of an EB child," said Lorraine, who began running a support group for EB parents about a year after Garrett's birth. "Even though there's no cure, we can give helpful advice, find the appropriate resources for them and address problems by keeping tabs on each child's condition."
Bruckner, the hospital's chief of pediatric dermatology and assistant professor of dermatology and pediatrics at the School of Medicine, added, "Children come from all over because there aren't many doctors with expertise in this area."
As Lorraine helps the families navigate the complicated thicket of medical sub-specialists, she also offers moral support, encouragement and a personal perspective of her experience with EB.
She and her husband knew nothing about EB when Garrett was born in a Gilroy hospital. A seasoned mom with four other kids, she thought she knew what to expect in the delivery room. That dissolved seconds after Garrett's arrival when she overheard her husband asking the obstetrician "What IS that?"
Garrett was missing large patches of skin on his legs. Every touch left fingerprints on his body—a trail of trauma that showed something was horribly wrong. The obstetrician's decision to put him down and call for burn dressings probably saved his life. He was transferred to Packard Hospital, and his parents' lives have never been the same.
As with all kids with EB, caring for Garrett presents a staggering challenge. Lorraine spends about three to four hours every other night replacing the gauze that covers much of his body. "A large percentage of his body is covered with deep open wounds," she said. She often has to take breaks from the bandaging because of the excruciating pain. "When he was younger he'd say 'Mom, I hate you, I want to die,'—and he meant it," she remarked.
Lorraine and other parents of EB kids are the front line of their children's medical care. The clinic gives them a crash course in wound care and other complications. "We teach them how to apply bandages and when to suspect infection," said Bruckner. "We provide nutritional support to help the kids get extra calories they need to help their skin heal. It's also important to diagnose and treat anemia early to avoid long-term dependence on blood transfusions."
To maximize the quality of life nationally for children with this disease, Bruckner and her colleagues are developing universal standards to identify and treat these and other common complications of the condition.
Despite the efforts of Garrett's physicians and family, they know what his future is likely to hold. Lorraine recently attended the funeral of a 22-year-old man with EB. "As they were reminiscing about him, they were describing my Garrett," she said. "It broke my heart."
But the funeral also reminded Lorraine of what makes Garrett and other children with EB so special. "The light and the inspiration that these kids bring is just so valuable, and there is just so much to learn from them," she said. "Their patience is overwhelming."