When Butterfly Children Grow Up

Illustration: Angelica Alzona/GMG

This summer, Rachael Wrobel hopes to grow a second skin. It will start from the skin cells contained in a biopsy, harvested by Stanford dermatologists. Carefully stewarded, those cells will divide and grow, laboratory-spun into fragile, new-skin sheets. The dermatologists will tinker with the skin’s fine machinery, adding a missing genetic ingredient: type-7 collagen, a protein that Wrobel’s body does not produce. Then, they will graft the skin, patch-like, back on. With any luck, the new skin will take, and Wrobel will begin to make the missing protein. There is something, she admits, particularly sci-fi about the whole process, something otherworldly and reptilian. “My cousin and I were laughing because he goes ‘it would be cool to know someone who’s genetically modified,’” Wrobel said. “And I’m like, ‘oh thanks, I’m going to be this genetically modified, bionic person.’”

Advocates have come up with a name for severe EB patients: butterfly children, because their skin is as fragile as a butterfly’s wings. 

Wrobel is a brassy 28-year-old, a straight-shooting Midwesterner who works full-time providing respite care to developmentally disabled adults. She’s five foot zero, 95 pounds, and her personality is packed like dynamite sticks into her tiny body. “Everybody’s surprised,” she laughed, “because they don’t expect someone so small to be that scrappy.” Wrobel has recessive dystrophic epidermolysis bullosa, a severe form of a rare blistering disease. Without type-7 collagen, her skin is unmoored: There is nothing to hold its layers together. It is so delicate, so papery-fine, that it blisters at the merest provocation. Those blisters, bulbous and unwieldy, have to be drained and bandaged, only for the skin to scar and blister again. EB patients’ hands and feet often become fused together from scar tissue; blisters can form in the esophagus and make it hard to swallow. People with RDEB are likely to develop skin cancer. Treatment is expensive, and bandages can cost up to hundreds of thousands of dollars a year. Advocates have come up with a name for severe EB patients: butterfly children, because their skin is as fragile as a butterfly’s wings. It’s a term Wrobel can’t stand.

“I hate it,” she says, “because kids grow up.”

Historically, most RDEB patients haven’t lived long past childhood: skin cancer, infection, and other complications made it hard to survive. But these these days, they often do. Advances in antibiotics and wound care, says Stanford dermatologist Dr. Peter Marinkovich, “mean we’re able to take care of them and get them through those rough times. Now they’re living into their second, third, even fourth decades.”

For Brett Kopelan, executive director of Dystrophic Epidermolysis Bullosa Research Association (DEBRA) of America, the quest to find—and fund—effective treatments is personal: His 10-year-old daughter Rafi has RDEB. “I wanted to cure my daughter,” he explained, “or at least give her a chance at life. And I wanted to help all these families by providing programs and services that people need until there was something scientifically and commercially viable.”

RachAel Wrobel is part of a small but growing cohort of recessive dystrophic EB patients who have navigated that transition into adulthood.

As Rafi and other EB patients age, they’ll need specific medical care that can address the complications that arise from living with the disease for several decades, including dental, digestive, and organ-related problems, chronic pain, malnutrition, osteoporosis and skin cancer. Right now, that care is hard to find. Pediatric dermatologists have historically specialized in treating EB, and patients with severe cases often didn’t live long enough to transition into adult care.

“There have never been specific dermatologists who’ve developed a practice around [adult EB],” Kopelan said. “We’re trying to change that. Given the promising therapies on the horizon, we can expect they’ll live longer lives and we have to be prepared for it.”

Rachael Wrobel is part of a small but growing cohort of recessive dystrophic EB patients who have navigated that transition into adulthood. When Wrobel was in college, she lived with her grandparents. But after she graduated, she was ready to move on. “I wanted my own space,” she recalled. “I didn’t want to explain why I was out until one in the morning on the weekend. I wanted to have a social life, and invite my friends over. When you live with older people, they’re not inclined to have others in their space.”

So in 2012, Wrobel decided to move out. Her grandparents were hesitant.

“They didn’t believe I was moving out until I signed my lease. They thought I was joking. They were like, ‘How are you going to cook? If you can’t cook, how are you going to eat?’ And I just decided I’d figure it out.”

Apartment-hunting proved the first hurdle. Wrobel’s fingers are encased, mitten-like, in scar tissue, so anything she has to open or turn can prove troublesome. “I realized that not all apartments have lever door handles,” she said. “A lot have knobs. I can’t do knobs. I’d go to these landlords and say, ‘Okay, If I can’t turn on the faucet or the shower, are you willing to adapt them?’”

She drives by resting her wrists on the inside of the wheel, pressing down with her palms to turn, shifting gears with both hands.

Wrobel remembers one night, early on, when she was making spaghetti. She couldn’t get the sauce jar open. “I tried running it under water, I tried hitting it on something. I had a rubber grip that I couldn’t get to work. I blistered my hand trying to get the jar open. And I was just sitting on the couch crying, feeling so defeated.”

It’s gotten better, but managing her health and her life still takes work. Wrobel learned to wrap her bandages herself, a process that can take hours. She drives by resting her wrists on the inside of the wheel, pressing down with her palms to turn, shifting gears with both hands.

A couple years ago, she took on additional hours at work, and then missed a letter informing her that she no longer qualified for her social security disability income—and the health insurance that came with it. Enter the astronomical medical bills. Wrobel had to navigate re-entry into Medicaid, and was without coverage for the better part of a year. “Thank goodness,” she said, “I hoard bandages in my kitchen cabinets.”

Wrobel is proud of living independently. But sometimes it feels like she is flying blind in a system that wasn’t built for her. “Once you get transferred to adult care,” Wrobel says, “you’re on your own. Nobody’s really tracking you or advocating for you. It’s very frustrating.” Like many adult EB patients, Wrobel continues to see her childhood dermatologist.

The reasons for that are twofold: Pediatric dermatologists were the first to develop expertise in treating EB. And the other reason, says Dr. Peter Marinkovich, is because severe EB patients “get shunned by local physicians.” Their disease is complicated, their care intensive.

“[Dermatologists] look at their skin and say, ‘Man, this patient is going to take an hour-long visit.’ A patient who has acne takes five minutes, and the physician will get reimbursed for the same amount,” Marinkovich explained. “And physicians are scared that they weren’t taught about EB much in their dermatology school training. So they feel inadequate, and patients have to scramble around looking for physicians. It adds additional complications to their already complicated lives.”

A new skin may not rid her of her disease—but it could let her slow it down.

Marinkovich is at the helm of one of the latest breakthroughs in the treatment of epidermolysis bullosa: gene therapy. He is the principal investigator in the Stanford gene transfer study that Wrobel is a candidate for—it will begin its third phase this summer.

The Stanford gene-therapy trial offers Wrobel a chance at buying time: more years to work, to travel, to fall in love. A new skin may not rid her of her disease—but it could let her slow it down.

Doctors in Europe conducted a similar procedure on a young boy with a different form of EB, and were able to successfully replace nine square feet of his skin. Two years later, his skin remains healthy.

Marinkovich is hopeful that the FDA will approve the therapy within two years. If so, he explained, “it will be the first approved gene therapy in dermatology. But it’s just one step on the way to getting the optimal therapy”—an affordable treatment that doesn’t have to be grown in a lab, and could be shipped by mail.

DEBRA has just helped to open the first adult EB clinic at Thomas Jefferson University in Philadelphia, which will specialize in treating the complications that arise with age, including skin cancer. Wrobel is glad, but she says adults with EB need more than just specialized medical care. She wants to talk about job training. About how to move out of your parents’ house. About financial literacy. About mental health care. And about sex.

“Sexuality is completely ignored in the EB community,” Wrobel says, noting that people with all types of disabilities are routinely de-sexualized. It happened to her too, at the dermatologist a couple years ago. Wrobel had gone in for a skin check, and she told her doctor she was worried about scar tissue near her vagina. “I told her that I was concerned about it. If I were to move forward in a relationship with somebody, what am I supposed to do?” Her dermatologist, Wrobel remembers, was dismissive.

“She said, ‘I wouldn’t be concerned about that right now.’”

So Wrobel asked a different doctor, who promised to ask her colleagues. No one, she reported back, had any idea how to make sex comfortable and safe for people with EB.

“Sexuality is completely ignored in the EB community.” 

“If I think about it too much, it makes me upset,” Wrobel says. “They don’t think of you as a fully functioning human being.”

So Wrobel and other EB patients rely on a whisper network within their community.

“People know that people do it, but you don’t know who’s comfortable with you coming to them and being like, ‘how do you do it safely?’” Wrobel said. We have to rely on each other to learn what the safe way of doing it is instead of our doctors.”

At 28, Wrobel worries that time isn’t on her side. Phase three of the gene-transfer trial doesn’t begin until late summer, and Wrobel isn’t a shoe-in. The majority of her wounds are on her back, which could make healing from the skin grafting process difficult—and may render her ineligible for the trial. What if her disease worsens? What if she has to stop working, and can’t keep living the life she’s worked so hard to create? So often with RDEB, Wrobel said, “skin cancer ends up taking you.” She’s lost multiple friends that way—a cruel reality for the EB community.

For now, Wrobel is packing in as much living as she can, making plans for Friday night, for dental surgery, for a trip to Greece. “I go on vacation a lot, and everybody’s like, ‘can you afford that?’ Wrobel said. “I tell them I can’t spend money when I’m dead. But nobody wants to hear that. Nobody wants to hear that you know that you might die early.”

Is Wrobel afraid of dying? “Yes and no,” she explained. “It’s kind of like a catch-22. We know that we’re not going to be as old as our parents—we know that we have less time to accomplish what we want to accomplish and experience what we want to experience. But would I really want to live forever in as much pain as I’m in every day?”