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The arrival of a newborn often prompts various child-rearing philosophies. But for parents whose child is born with a rare disease, those voices are silenced -- as was the case for Brett and Jackie Kopelan, whose daughter, Rafaella, was born with Recessive Dystrophic Epidermolysis Bullosa (RDEB).
Rafaella, “Rafi,” was born two weeks late in November 2007, missing skin on her feet and the back of one hand. The Kopelans were initially told that their newborn daughter was “overcooked,” but when her skin started to blister, she was rushed to the neonatal intensive care unit (NICU). The new parents would not see their daughter again until the following day— and saw that her condition had worsened.
“The world fell out from underneath my feet,” Brett told FoxNews.com. “She was blistered all over and they had no idea what was wrong with her.”
Rafi was separated from the other infants to protect her from infection, and doctors were unsure if she would make it through the day or be well enough to ever leave the hospital. It would be about a week before Rafi was diagnosed RDEB, a type of Epidermolysis Bullosa (EB), and the hospital kept her another 35 days. EB is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. An estimated 1 out of every 20,000 births are affected with a type of EB.
“It was incredibly stressful, once you get the diagnosis and you go to Google and look it up, the first thing you realize is Google is not your friend,” Brett said. “You see things like: ‘no cure,’ ‘short life,’ ‘painful,’ ‘terrible quality of life’ with no treatment or really strong research initiative.”
RDEB is an autosomal recessive inherited condition, meaning both parents are unaffected carriers. There is no genetic test available to detect carriers for RDEB. While some cases of this type of EB can be mild, most are severe with onset typically at birth with areas of missing skin. In some cases, nearly all skin surfaces and mucous membranes are covered by blisters. Resulting scarring can limit range of motion of patients’ extremities, while muscle contractures and the fusion of fingers and toes cause deformity and loss of function. Blistering on the mucosal surfaces often cause scarring within the mouth and gastrointestinal tract, limiting ingestion of food. In many cases, chronic malnutrition, growth retardation and anemia may ensue. Patients may also suffer eyelid inflammation and adhesions to the eyeball, as well as inflammation of the cornea.
After learning of their daughter’s condition, the Kopelans connected with The Dystrophic Epidemolysis Bullosa Research Association of America (debra); now, Brett is the executive director of the national non-profit organization.
Rafi’s long hospitalization qualified her for Medicaid. Throughout her stay, her parents were taught about the bandages she would need for care, the solutions meant to help heal her during bath, and the creams meant to help soothe her open wounds.
To protect Rafi from infection, the hospital suggested diluted vinegar, as well as diluted bleach. When the Kopelans tried using diluted vinegar, the effect on her open wounds was like pouring Purell in her body, Brett said. Not wanting to cause their daughter additional pain, they looked for new solutions.
“The only way to look at this stuff is [that] you are torturing your kid every day,” Brett said. “It’s one of the hardest things as a father to swallow, knowing you have no choice, you have to do it.”
“You quickly learn just how fragile things like legs are. Plenty of times during a bath and bandage change, she’d lose a good part of the skin on her calf or something like that,” he said.
Now, with Rafi nearing 8 years old, the Kopelans have a routine for bath and bandage change. It takes about an hour and a half to prepare each morning, but simple things like brushing her teeth can take up to 45 minutes due to the sores in her mouth. Bowel movements can also be difficult and incredibly painful, and she is hooked up to a feeding tube because EB causes patients’ throats to become narrow with built-up scar tissue.
Brett said one of the most surprising things about their experience with EB was just how little information was available to them from the start. He became involved with debra when Rafi was just 3 months old, and is spearheading efforts to dispense more information to new parents of children with EB. His team is working to pair parents with a family advocate from the moment of diagnosis to help coordinate care plans.
After learning that pain management and wound care were the only treatments available for their child, Brett and Jackie began researching other options. At age 2, Rafi became the eighth child in the world to undergo a stem cell transplant which helps her to produce a protein she is missing. While it can be considered medically successful because her body now produces the protein, it did not have a large overall affect, the family said.
The Kopelans are excited about a new drug currently in phase 3 development and are hopeful for its approval so that it could become available for patients like Rafi.
‘Light at the end of the tunnel’
Scioderm’s Zorblisa is the first drug to ever enter phase 3 development for treatment of EB, and was granted orphan drug status and breakthrough designation from the U.S. Food and Drug Administration (FDA), enabling researchers to have detailed discussions and interactions with the FDA through various stages of development. In addition, Scioderm reached an agreement with the FDA to participate in an open label study, so that participants who have completed the three-month study are eligible to continue to receive the cream with the active ingredient.
Zorblisa is a topical therapy treatment meant to trigger wound reduction and closure, and a reduction in body surface area coverage of blisters and lesions, over three months of treatment in children with EB. Dr. Robert Ryan, the cofounder and CEO of Scioderm, has spoken to the Kopelans and works closely with Brett to spread awareness of the clinical trial through debra.
“There are no approved therapies at all for EB, so there’s nothing out there,” Ryan told FoxNews.com. “What we’re looking at is the ability to be able to heal wounds and have other impacts on the skin manifestations,” he said. Ryan said that Zorblisa would be available to patients aged 1 month and older. The trial is being conducted in both the U.S. and Europe and will conclude three months after the last volunteer begins.
“I’m very optimistic, I’m very hopeful for the patients,” Ryan said, adding that the overall goal in the fight against EB is that Zorblisa can be a treatment option for patients, but not the only one available. “There may be other things that may come along, but we’re really looking at a potential opportunity for families right now.”
Brett believes Zorblisa has the potential to impact the quality of life of EB patients like Rafi.
“For a long time there was absolutely no hope,” he said. “We’re at the point where companies like Scioderm are actually helping so that you can see the light at the end of the tunnel and realize that it’s not the oncoming train, and that’s really powerful to notice.”
‘It really puts your faith back in human nature’
Rafi is not participating in the clinical trials of Zorblisa and will have to wait for it to appear on the market. Currently, she is enrolled in a private school in New York City where a nurse accompanies her every day. She uses a motorized wheelchair to get around, and can walk short distances when the blisters on her feet are not too painful. She has enjoyed science camp this summer, and before that art camp, which Brett said is bittersweet.
“In all honesty a little piece of my heart breaks every day,” Brett said. “Whether it’s watching her hands become fused together, and knowing she loves art and she’s going to lose the use of her hands, or her eye prescriptions getting stronger and stronger, or to see her limp in pain.”
“She’s a girly-girl, she loves dresses, she loves handbags, and stuff like that, but you can’t put [bags] over your shoulder, and some sundresses she can’t wear because the seams are bad,” he said.
Living through the day-to-day challenges of EB first-hand has helped Brett in his work at debra. The organization provides free bandages to patients, and helps them work with insurance companies for more coverage. They have an on-call nurse to help answer questions and have launched a legal-aid program for patients who encounter a denial of service from insurers.
For now, Rafi and her family organize runs in their community, and help raise funds for debra.
“It’s amazing how the community and communities around the country rally around these kids,” Brett said. “It really puts your faith back in human nature.”