People with 'Butterfly' Skin Condition Triumph Through Pain

Epidermolysis bullosa patients, or "butterfly children," triumph through pain.

ByABC News
February 21, 2013, 1:43 PM

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."