People with 'Butterfly' Skin Condition Triumph Through Pain

Feb. 22, 2013— -- Life isn't easy for children and adults whose skin is so fragile that the tiniest friction can tear it away. They're called "butterfly children," and they have a range of genetic connective tissue disorders called epidermolysis bullosa, which means they can't properly make the protein that anchors skin in place.

But they aren't all children and they're tougher than your average butterfly.

Rabble of Butterflies

Lizzy Hendrickson is 3 1/2 years old and has epidermolysis bullosa simplex, a mild form of the condition that is still painful. Yet she dresses her own wounds and sometimes lets her 6-year-old big sister help even though it hurts.

Megan Barron, 22, has dystrophic epidermolysis bullosa, a severe form of the condition characterized by scar tissue. Her hands have scarred into fists except for her thumbs, which have been surgically freed for typing and other tasks, and she has a few blisters on the pale skin of her face, framed by strawberry blond hair.

Yet she was determined to go to college in North Carolina instead of her home state of Florida. She's set to graduate in May with a major in history and a minor in political science. She's even been a White House intern, beating out hundreds -- if not thousands -- of applicants from around the country.

Tripp Roth had the most fatal form of epidermolysis bullosa, yet he survived longer than doctors ever expected and lived to be 2 years and 8 months old. Even if his face was filled with scabs and blisters, his mother was always astounded at how Tripp could always muster up a smile.

Rafi Kopelan is 5 years old and has a more severe form of the condition, warranting five surgeries to prevent scar tissue from blocking her throat and a bone marrow transplant to help her cells make the protein it needs to keep skin anchored in place. She's shy, but she has no problem explaining to middle school students why her skin is full of wounds that don't always heal. She even opens up with a joke to put her audience at ease.

"It's literally the worst disease you've never heard of," said Rafi's father, Brett Kopelan, who now runs the Dystrophic Epidermolysis Bullosa Research Association of America. "The simplest of things, like dental cleaning or brushing her teeth, is enough to rip the inside of her mouth open, yet this kid gets up and goes to school every day with a smile on her face. I don't know how she does it. I don't know how any of these kids do it."

Epidermolysis bullosa occurs in one of every 50,000 live births, according to data from the National Epidermolysis Bullosa Registry. Although it's divided into five main types, depending on which dominant and recessive genes the child inherits from his or her parents, there are really closer to 27 different varieties, and every patient is different.

Finding Acceptance

An estimated 25,000 to 50,000 people have epidermolysis bullosa in the United States. But with a total population in the country of almost 314 million people, the disease is rare enough that raising awareness is a key issue the community.

Just this week, a family with children who had epidermolysis bullosa filed a lawsuit against a Golden Corral restaurant in Michigan for violating the Americans with Disabilities Act. According to the complaint, the restaurant owners approached the family and asked what was "wrong" with the baby who was covered in scabs. Although the child's mother explained the condition, the owner said the condition was obviously a "contagious" disease and that the family should "go find somewhere else to eat."

For 22-year-old Barron, the experience is all too familiar. She said she's been asked if she was contagious, and said she's very tactful about how she dresses to avoid making people uncomfortable about the open wounds on her skin.

"My heart sinks for these kids," Barron said in an email that she typed with her thumbs -- a skill she taught herself in the third grade. "So many times I fear revealing too much of my skin and bandages. ... I fear this very reaction if someone sees too much."

In a phone interview a few minutes later, she explained that people get "freaked out" by the open sores and it sometimes makes her feel like a leper. Although Barron, like many other children with epidermolysis bullosa, was initially worried about making friends in school, by the time she got to college she learned to ignore the stares, relax and let her real friends in.

She said her friends accepted her feeding tube (for extra nutrition) and her full-time nurse (for help with daily bandaging to avoid infection) without making her feel weird about it.

"Hanging out in my room, going out on weekends, it's just Megan -- and that's what I love about them, that they treat me that way," Barron said.

No Known Cure

Parenting children with epidermolysis bullosa is often a full-time job, and sometimes that job is expected to come to an abrupt end because the condition comes with many internal complications that often lead to early deaths.

When Courtney Roth gave birth in 2009, her son, Tripp, had mostly unblemished skin aside from a blister on his head. She would eventually learn that he had junctional epidermolysis bullosa, the most fatal type of the condition because it leads to loss of fluid and infection from so many open sores. Blistering of internal organs, malnutrition and other complications are also common.

So Roth started blogging to vent her feelings and chronicle the short time doctors told her she would have with her newborn, whose skin would blister no matter how well she bandaged his fragile body. No one expected Tripp to live until he was 2 years and 8 months old, or that the blog, "'EB'ing a Mommy" would win her recognition as an ABCNews.com Reader's Choice Hero in 2011.

Roth, now 27, said mothering Tripp was trial and error the whole way because every wound would be different. Some would heal and others wouldn't. She found a community of other parents to help her through it, and she now offers her contact information to other parents of children with epidermolysis bullosa.

"These moms and these parents, they're yearning for somebody that's going through the same situation," she said. "It's probably one of the cruelest, hardest things to have to go through, to watch your child suffer like that knowing you can't do anything about it."

She said she rarely slept more than 20 minutes at a time, but she was fortunate that she didn't have other children and that she did not have to work during that time.

"I was always in his face," she said. "We just loved him. We loved him so much. I don't know if that's what kept him going. I know for a fact that he kept me going."

Tripp died in January 2012, but Roth isn't ready to read over her blog entries just yet.

"It made you think: If he could survive and smile and laugh and play, then there's nothing in the world to ever complain about or be upset about," she said. "I just miss him a lot."

Making Exceptions

For 3-year-old Lizzy and 5-year-old Rafi, it's little things that have made all the difference, their fathers said. (Coincidentally, both dads went to the same private high school in New Jersey.) Lizzy goes to pre-school and Rafi is in kindergarten.

Because one side effect of epidermolysis bullosa is malnutrition, Rafi is small for her age, so the kindergartner-sized tables and chairs in her classroom are too big for her.

"They bought other tables and chairs and integrated her with the class so she's never sitting off alone," said Kopelan, Rafi's father, adding that the school also allows a nurse to come to school with her every day. "Without that, her life would be completely different."

Lizzy goes to school, too.

"The fact that she's led a fairly normal life so far has been tremendous for us," said Lizzy's father, Rob Hendrickson.

Although Lizzy's big sister, Katie, 6, is a tomboy and likes to play tag, she goes home to Lizzy and plays skin-friendly games. They like to sing and put on fashion shows, and love to hug and cuddle even though they can't roughhouse like the boys at Katie's school.

Hope through Research

Although there's no cure yet, doctors are working to find therapies to strengthen the skin and eventually replace the missing protein.

In the mid-2000s, a mother of two children with epidermolysis bullosa approached Dr. John Wagner and Dr. Jakub Tolar at the University of Minnesota for a cure and "wouldn't take no for an answer," Tolar said.

Wagner and Tolar don't come from dermatology backgrounds, however. They both worked in cancer research. Tolar is the director of the university's Stem Cell Institute, and Wagner is the director of its blood and marrow transplant program.

After testing a theory that the stem cells in bone marrow would travel to the skin to produce the missing protein in mice, Wagner and Tolar got approval to start a clinical trial in 2007. They've since completed two dozen transplants, and their first patient is still alive today.

"You could actually see the skin repairing by just looking at the kid," Wagner said.

To test skin fragility, Tolar uses a negative vacuum device that he puts on the patient's arm or leg. In a normal person, it would take about an hour to form a blister. In Rafi, for instance, it would take three minutes.

But after Rafi had the bone marrow transplant, her skin took more than 20 minutes to blister. She is not cured, however.

Still, the surgery is controversial. Although Wagner got 200 patient referrals overnight after a paper about his first 12 patients was published in the New England Journal of Medicine, other scientists called him a "witch doctor" because bone marrow hadn't been known to fix skin, he said.

Four patients died after rejecting the transplant, but in both instances, a bone marrow match couldn't be found, so they had to use cord blood instead.

Wagner and Tolar hope to perfect the bone marrow transplant process, which already can't include tape for IVs because it would rip the patient's fragile skin. They're already working on finding a cure through gene therapy, which would involve correcting the epidermolysis bullosa genes, putting them in a virus and infecting healthy cells with corrected genetic material.

In the meantime, Shire, an organization that works on treatments for people with serious medical conditions, has acquired Lotus Tissue Repair, which directly replaces the missing skin protein by delivering it intravenously.

Moving Ahead

In her sophomore year at Duke University, Barron started its first ever student disability advocacy group, the Duke Disability Alliance. It works to raise awareness and accessibility for disabled students on campus and is in its third year.

Barron plans to graduate in May, take a year off to do advocacy work and then head back to school for a master's degree in public administration.

"I think it's really important to have someone on the ground working who has these conditions," Barron said.

She tries to appreciate every day her pain is not making it hard to move, but she knows her health could get worse. Many people with epidermolysis bullosa don't live past 30 because of internal complications like cardiomyopathy and an increased risk of skin cancer, but she doesn't think about that.

"That's one of the hardest things, to keep going thinking, 'Oh my gosh, I'm only supposed to live until I'm 30,'" she said. "But then again, I wasn't supposed to make it out of the hospital. At some point, you have to let go of the expiration date mentality, and the world keeps turning. You have to make the most of it and achieve some sort of normalcy -- whatever normal may be for you."