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When Brett Koplean’s wife Jacqueline was pregnant with their daughter Rafaella – nicknamed Rafi – the entire pregnancy progressed smoothly. But when Jacqueline gave birth, two weeks late, the new parents were confronted with a shocking scenario they could have never imagined.

Rafi was missing skin on both of her feet and the back of one of her hands.

Despite their obvious concern for their daughter, the couple was initially told that everything was fine.

"The world fell out from under my feet...They told us, ‘We don’t know if she’ll survive.'" — Brett Koplean, director of debra

“Our OB-GYN and on-call pediatrician said, ‘Don’t worry about it. She’s just overcooked; we’ve seen it before,’” Koplean, 45, of New York City, told FoxNews.com.

But a little over six hours later, Rafi was taken to the neonatal intensive care unit (NICU) at Roosevelt Hospital in Manhattan. When Koplean and his wife visited her the next day, they couldn’t believe their eyes: their daughter was covered in severe blisters all over her body.

“That was when the world fell out from under my feet,” Koplean said. “…They told us, ‘We don’t know if she’ll survive.’”

Rafi spent the next 35 days in the NICU, where doctors conducted a series of tests to determine what was causing her rashes and extreme blistering. During her stay, a dermatologist at the hospital had overheard about Rafi, and suggested doing a skin biopsy to test for a very rare – and very serious – genetic condition: dystrophic epidermolysis bullosa (EB).

Sure enough, the biopsy revealed that Rafi was lacking the collagen VII protein, an indicator of EB. Unaware of what the condition meant, Koplean decided to do some preliminary research online. What he found gave him what he called, “a minor heart attack.”

“I knew she was going to live a painful, short life and would probably be disfigured,” Koplean said. “How long she would live was a big question mark.”

Butterfly children

Epidermolysis bullosa refers to a group of three genetic disorders, all of which share one fundamental symptom: extremely fragile skin that blisters or tears from trauma. Caused by mutations in the collagen VII gene, EB blocks the body’s natural production of the collagen protein – an important component of mammalian connective tissues.

“(Collagen) is like a glue,” Dr. Jakub Tolar, director of the University of Minnesota Stem Cell Institute and an associate professor in the department of pediatrics at UM, told FoxNews.com. “We have several layers in the skin, and the two main layers – the dermis and the epidermis – are literally glued together like Velcro with loops of this collagen. If you don’t have it, you will lose the surface of the skin, and that’s what these kids have.”

Debra

The Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), is the only national non-profit dedicated to funding research and providing services and programs for those with Epidermolysis Bullosa (EB)

To learn more about EB or to donate to research, visti debra.org.

Because of their delicate skin, children with EB are often termed “butterfly children,” in reference to the delicate wings of a butterfly. The condition affects one child out of every 20,000 births, and according to Tolar, the severity of symptoms can range from mild to incredibly severe. But for those at the harsher end of the spectrum, the difficulties of the disorder start at birth and ultimately lead to a lifetime of severe pain and discomfort.

In order to protect their blistered skin, EB children must be wrapped in specialty bandages, which need to be changed every day – a process that is incredibly painful. And if the sores weren’t uncomfortable enough, they also itch uncontrollably, prompting many children to scratch at them and traumatize their skin even further.

While major skin troubles are the hallmark of EB, the problems for these children don’t stop there, as the condition causes a host of other issues inside the body.

“They have the same sores on the skin in the upper part of the esophagus, and they wind up losing the lining of the mouth and esophagus, so they cannot eat,” Tolar said. “They typically need a gastric tube in their abdomen to keep up with their basic nutrition, and they develop low blood counts and many infections purely from the fact that they don’t get the right kind of food.”

The prognosis for children with EB is very grim, with some dying during early childhood. For those who do survive into early adolescence, many wind up being wheelchair-bound, as they have developed contractures underneath their skin which prevent them from walking. And eventually, when their skin sores have become extremely severe, they will develop an aggressive form of skin cancer – which is most often fatal.

“They never get better; they get worse every day. In a typical day, they are in pain almost all the time,” Tolar said. “...Imagine how brutal a fate this is.”

From fatal to livable

When Koplean learned what was in store for Rafi, he was determined not to surrender to his daughter’s circumstances.

“Once we got over that and the initial depression, we said, ‘This is it,’” Koplean said. “‘This is what we were handed.’ So we decided we’d try to give her the most normal life possible.”

After conducting further research into the disorder, Koplean became acquainted with Tolar and his work with stem cell therapies. A month before Rafi was born, Tolar conducted the first-ever bone marrow transplant therapy on children with EB, and the Kopleans were eager for Rafi to be involved in the next clinical trial.

According to Tolar, typical bone marrow contains a population of stem cells that produce the collagen VII that EB children so desperately need. By doing a bone marrow transplant, children are able to receive these stem cells, which then travel to the injured skin and produce collagen where it is needed.

Tolar has performed this treatment on approximately 24 children, and he said the majority have responded incredibly well and have had their lives dramatically changed.

“We have not literally cured anybody, but we have changed a tragic, rapidly fatal disease to a bearable, livable disease,” Tolar said.

Rafi was the eighth child in the world to have the bone marrow transplant done, and while she suffered complications following the procedure, Koplean is confident the treatment greatly improved his daughter’s quality of life. Now, at 6 years old, she is able to attend a normal school in the Upper West Side of New York City, where she is easily integrated into daily activities. However, she must be supervised by a nurse at all times, and she still needs to be wrapped daily.

“What I’m very confident of is we gave her a lesser form of the disorder,” Koplean said. “It’s a very up and down kind of disorder, and I think we actually increased her lifespan.”

To better aid his daughter and others like her, Koplean was elected to the board of directors for the Dystrophic Epidermolysis Bullosa Research Association of America (debra) shortly after Rafi was born, and he assumed control of the organization's day-to-day operations three years later. The non-profit is committed to helping families navigate EB and learn how to best take care of newly diagnosed children.

“We’re the only national non-profit that has programs and services for those that suffer,” Koplean said. “We have an on-call nurse educator who is available by toll-free number and email…We have a new family advocate program, where we send a sampling of wound care supplies, information on how to use them and how to care for the infant…And then we ask if they want someone to come and train them, and we’ll send an experienced caregiver.”

The group also raises money for research into cutting-edge treatments for EB, including Tolar’s work. According to Koplean, there are many promising therapies in the pipeline, but much more work still needs to be done, in order to give these children a normal life.

“This disease attacks you physically, emotionally, and financially,” Koplean said. “And the families need help, and we’re the only ones out there for them.”

To learn more about EB and debra, visit debra.org.