Girl deals with rare skin disease

By Mary Wade Burnside
Times West Virginian

FAIRMONT October 29, 2007 11:10 pm

— On a given day, 8-year-old Audra Knotts might play with her classmates in gym class, attend her jazz dance class and use a wheelchair to get around.
Those activities all represent Knotts’ life with a skin disease called epidermolysis bullosa, which causes large, painful blisters to form on her feet and hands, as well as the girl’s determination to do all the activities that she wants.
“She’s very positive and always ready to jump in and just try her best,” said Kathy Green, principal of West Taylor Elementary School, where the Flemington resident attends third grade. “You would never know anything was wrong. I know that sometimes she’s in pain — I can tell by the way she walks. But she never complains. She always wants to do what the group is doing.”
Audra’s mother, Melissa, first noticed something wrong when her daughter was three and a half months old in 1999.
“I noticed on her thumb, she was getting blisters,” Knotts said. “Babies always have their fingers in their mouth, so I thought she was sucking her thumb so much that she got a blister.”
But when similar blisters appeared on her feet, Knotts began to worry. She took Audra to the pediatrician, who actually had heard of epidermolysis bullosa, a blistering disease not well-known in the general public.
Knotts and her husband, Bruce, took Audra to a dermatologist, however, who thought the baby had a bacterial infection and prescribed antibiotics.
“In seven days, she had 13 blisters on her feet,” Melissa Knotts said.
The family wound up at WVU Hospitals, where doctors suspected epidermolysis bullosa and sent Audra to a specialist at the University of North Carolina in Chapel Hill.
By the time the family arrived in North Carolina, Bruce Knotts already had done an Internet Web search on epidermolysis bullosa and told his wife not to do the same until after they saw the specialist because of the images he saw.
When they got to the hotel recommended by the specialist, “I saw two individuals coming in and they had part of their skin wrapped in bandages,” Melissa Knotts said. “Their skin was unrecognizable from head to toe.”
In their room, she asked her husband if they had epidermolysis bullosa.
“He said, ‘No, they’ve been burned,’” she said.
Knotts decided to talk to the pair anyway, who confirmed epidermolysis bullosa.
“I told them, ‘That little girl I was with supposedly has what you have,’” Knotts recalled.
When she described Audra’s symptoms, they reassured her that the form Audra has was not as severe as theirs. The next day, the specialist agreed.
Instead of having dystrophic epidermolysis bullosa, like the man and woman at the hotel, the Knottses learned that Audra has epidermolysis bullosa simplex, the most common and usually the least severe form of the disease.
“We found out that she would have a normal life,” Knotts said. “Coming back from the trip — going down, I felt distraught — but when I came back, I was thanking God. It was a turnaround. I felt more at peace.”
That does not mean that Audra does not struggle with the disease. Sometimes the blisters on her feet give her so much pain, she uses a wheelchair to get around. Other times, she walks on the sides of her feet.
She attends tumbling and jazz dance classes at Rebecca’s Dance Studio in Bridgeport, participating most of the time. But if she cannot take the class, she still goes and watches so she can learn the routines.
“When she was younger, like 3 or 4, she would scoot around and crawl, and there are times she still does that at home,” Knotts said. “On her worst days, she will limp until she can’t anymore, then use her wheelchair.
“On the days that are so bad that she can’t walk in the morning when she gets up, she’ll use her wheelchair. Then by mid-morning or afternoon, she’s out of the wheelchair.”
The New York-based Dystrophic Epidermolysis Bullosa Research Association of America, or DebRA, has existed since 1979. But for the first time, an awareness week for epidermolysis bullosa has been set aside. It began last Thursday and will last through Wednesday.
Organizers hope the week will help raise awareness and eventually funds for a disease that not only has no cure, but also has no real medicines to alleviate the symptoms.
“We do have one volunteer that is going across the country, and she started that with a rally and a kick-off,” said Suzanne Cohen, director of DebRA (www.debra.org).
“She came up with a ribbon-cutting concept in which she held a role of gauze bandages and cut that bandage, because that’s the primary way that our patients are able to have any treatment is to be bandaged every day.”
About one in 50,000 people have some form of epidermolysis bullosa, Cohen said, which occurs when the skin lacks a protein and becomes so sensitive to friction that blisters form easily.
Most people with the disease have simplex, the same as Audra, Cohen said, but those that have one of the more severe types — dystrophic or junctional — sometimes have the appearance of severe burn victims.
Also, some types of the disease can cause blisters to form in someone’s throat and digestive tract, making eating excruciating.
“That creates poor nutrition and anemia, which are dangerous,” Cohen said. “To have good wound healing, you need healthy blood and energy, and if you are not getting enough calories and nutrition, it’s harder for wounds to heal.”
Some types of epidermolysis bullosa can shorten someone’s life, either from the disease itself or the skin cancer that can occur in some of the patients. Others, like Audra, have a normal life expectancy.
Although no treatment currently exists, a clinical trial currently is under way at a biotech firm called RegeneRX for a topical gel that could alleviate symptoms, Cohen said.
Usually, epidermolysis bullosa is genetic, but in Audra’s case, doctors believe a mutation caused her disease, because no one else in the Knotts family has it.
“When she grows up and determines to have children, it will be a 50-50 chance down her family line to have the disease because she’s a dominant,” Knotts said. “But in her case, it was more or less an accident.”
Melissa and Bruce Knotts waited to have additional children because they feared they also would be afflicted. But at 4 years old, Audra’s sister, Brylee, has been cleared from getting the disease because in generally shows up in the first few months of infancy. The Knottses are still waiting to see about 2-month-old baby brother Corbin.
“She’s good with the other kids,” her mother said of Audra. “With the baby, she’s motherly. Like last night, she asked, ‘He’s not getting a blister, is he?’”
Audra’s principal, Kathy Green, attributes Audra’s determination to her mother and father.
“She’s got the confidence and she’ll go far in life,” Green said. “She will not let this hold her back.”
In fact, Melissa Knotts realizes that when her daughter chooses to take on more activities, she increases the potential for more blisters. Just the friction from putting on her socks and shoes can cause blisters.
“They say the skin (of someone with epidermolysis bullosa) is as delicate as a butterfly,” Knotts said. “Sometimes it’s so fragile that it breaks and blisters. That’s the analogy that I use with children. They understand blisters.”
But when Audra first started to take dance class, the other children had to be taught that the disease was not contagious and that they could hold Audra’s hand if the routine called for it.
“I hug her and touch her and make her feel like part of the group,” said Rebecca Phillips, owner of Rebecca’s Dance Studio. “If you treat her like a normal child, she acts like a normal child.”
E-mail Mary Wade Burnside at mwburnside@timeswv.com.

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