Families work together to deal with ‘worst disease you’ve never heard of’
ORLANDO, Fla. – Daisy Sherman has an imaginary friend named Skunk who can do everything the 5-year-old from Kissimmee, Fla., can’t. Skunk can wrestle and tumble and climb ladders into the clouds because his skin – unlike Daisy’s – won’t break and blister at the slightest touch.
The girl’s rare skin disease, called EB (for dystrophic epidermolysis bullosa) is difficult for many to understand, but Daisy recently found herself surrounded by nearly 400 visitors to central Florida who did understand what it’s like to get an open sore after simply holding a baby rattle or sitting on a tricycle.
Called by those familiar with it “the worst disease you’ve never heard of,” EB affects 1 in 50,000 babies; 1 in 3 don’t see their third birthday. The deadly genetic disorder causes an inability to create a protein that helps two layers of skin bind. Thus the skin is fragile, and the slightest friction causes wounds, according to DebRA, a 30-year-old nonprofit organization dedicated to research and support for EB families. The group recently met in Florida.
“We couldn’t do it without the other families,” said Daisy’s mom, Dana Sherman. “Other parents are your best source of information. Many of us are friends on Facebook, but it’s so nice to meet the others going through this in person. They become like family. (On Facebook) we see each other’s kids hitting milestones and growing. We also lose some.”
Sherman knows of only five families in Florida who have “butterfly babies,” as children with this condition are sometimes called because their skin is as thin as a butterfly’s wing. None is near her.
At the three-day conference, parents and caregivers listened to talks by some of the nation’s leading medical experts who shared information about new medical treatments, better bandaging techniques and research under way to bring their kids, if not a cure, a better quality of life. Moms share coping skills and practical tips, such as what kinds of shoes work best for their children’s fragile feet.
Meanwhile, the kids took over three playrooms set up just for them. Like normal kids, they tussled over toys. In the game room, the large blow-up plastic palm tree was the big draw.
“We all want it,” Daisy said, “because it’s green.”
But unlike normal kids, their skin is covered in sores; their arms and legs are wrapped mummylike with bandages, which serve as a layer of skin. They have nurses, not nannies, hovering, and little wheelchairs on the sidelines for when they wear out.
They also have to endure frequent baths in bleach solutions to quell infection and bandage changes every other day that can last several hours.
Being at the conference not only helps parents and caregivers commiserate and share care strategies, but it also helps the kids see they’re not the only ones who look like this.
“At home, Daisy asks me, ‘Why don’t you wear bandages?’ ” said Sherman. “But here she sees others who look like her. The kids go up to each other and say: ‘Oh, you have an itchy monster, too,’ ” referring to the sores that itch.
The condition takes constant vigilance, because children are at risk of dying from anemia, suffocation from swollen airways, infection and malnutrition because their intestines don’t absorb well. Like many EB babies and children, Daisy gets most of her nutrition from a feeding tube. Bandages and ointments cost $10,000 to $15,000 a month, and the children need nursing care almost around the clock.
Among the biggest problems families face is a lack of awareness about the condition. Because the disease is unusual, most doctors don’t know what they’re dealing with.
“When we first moved here and took Daisy to a pediatrician, he said, ‘Don’t worry, it will clear up,’ ” Sherman said.
Bringing attention to the disease is a big push for DebRA, said Brett Kopelan, whose 4-year-old daughter, Rafi, has EB. Besides being the organization’s executive director, he is a chief officer for an executive-search company in Manhattan. When he first learned his newborn had a serious problem, “it was as if the Earth fell out from under my feet,” Kopelan said. Next, he made it his goal to know every researcher.
Two years ago, his daughter was one of the first EB children to receive a bone-marrow transplant to help her condition. Her body now appears to be producing a layer of binding skin tissue that it never had before.
After the transplant, Kopelan got more involved in DebRA: “I felt moved to do more to help not just us but others.”
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