By Helen Adams
Four-year-old Cooper Calhoun is a butterfly child. That’s what some people call kids with her disease, the genetic connective tissue disorder epidermolysis bullosa, because their skin can be so fragile, like a butterfly’s wings.
But there’s a lot more to Cooper than that, her mother says. “My hope is instead of people seeing her disease, they see her personality, her smile, her brains, her beauty, before they see the bandages and her scars.”
All of those attributes are on display as Cooper gets a check-up from the only fellowship-trained pediatric dermatologist in South Carolina, Lara Wine Lee, with the dermatology team at MUSC Children’s Health. Cooper wiggles and smiles on the exam table, wearing a pink headband with flowers on it.
“All right missy, will you let me look in your mouth?” Wine Lee asks. “Say ‘ah.’ Let me hear you practice.”
The dermatologist checks to make sure there aren’t any blisters in Cooper’s mouth. Cooper’s mom, Deana Calhoun, says her daughter is relatively lucky. “Typically, babies with EB don’t make it but for a few days. It’s not only the outside blistering, but also the inside,” Calhoun says. “The stomach, throat, everything. They’re at a high risk for infection.”
Calhoun’s knowledge of EB has been hard earned. The day Cooper was born, Calhoun and her husband were thrilled to finally become the parents they’d dreamed of being. Cooper’s biological parents had agreed to let the Calhouns adopt her and underwent genetic testing. However, those tests did not reveal the genetic secret they were unaware they were carrying.
“It just so happened that her birth parents, neither one of them had the disease, but they each carried a form of the gene” for EB, Calhoun says. “It’s a one in a million chance that these two people got together and created this in her.” Cooper has the strain of EB known as recessive dystrophic EB, which in severe cases causes blistering not only on the skin but also on mucous membranes, leading to scarring in the mouth and intestinal tract as well as on the skin.
The EB wasn’t apparent in Cooper’s prenatal exams, so Calhoun and her husband were in shock after Cooper came into the world with skin peeling off of her tiny body. “We weren’t expecting a child with medical issues and weren’t prepared for that. Our faith kept us strong, and we feel like God created her for us. It was an awful experience, but at the same time a true blessing. We learned about ourselves and humanity.”
Cooper, who was born in another hospital, was transferred to the Neonatal Intensive Care Unit at MUSC Children’s Health. “She was here for four days,” Calhoun says. “The treatment was to wrap her legs like she’d had a burn.”
The family then headed home to Marion, South Carolina, about two and a half hours away. “We just weren’t thinking past tomorrow,” Calhoun says. “We were thinking day by day for the first two years.” A local dermatologist recommended that Cooper see Wine-Lee, who joined MUSC Children’s Health in 2014. Wine-Lee specializes in treating genetic skin disorders such as Cooper’s, along with pediatric psoriasis, hemangiomas and vascular anomalies.
“She has a very good EB program,” Calhoun says.
EB is rare enough that Cooper’s mother has only seen one other child with the condition, and that was through the Dystrophic Epidermolysis Bullosa Research Association of America, or DEBRA, a nonprofit organization that funds research and services for people with EB. On its website, DEBRA calls EB “the worst disease you’ve never heard of.”
Fortunately, Wine Lee had not only heard of EB — she’s treated it before. “I have had experience with RDEB as well as other subtypes of EB,” she says.
Part of that experience comes from her volunteer work at a camp for kids with skin diseases, Camp Discovery in Pennsylvania. “My campers with EB really helped me understand what it is like to live with EB,” she says. “Children with EB can be extremely resilient despite the challenges they face. My goal is always to care for their skin condition to the best ability, so that they get an opportunity to just be a kid.”
Wine Lee says people with EB need access to a team with expertise in treating complex medical conditions. “The care team for kids with EB often requires experts in pediatric dermatology, cardiology, ear nose and throat, gastroenterology, hematology and more,” Wine Lee says. “Specialized pediatric centers such as MUSC Children’s Health can coordinate such care to really improve the lives of kids with EB.”
There is no cure for the disease. “We do a lot of wound care and infection control once the skin is blistered, but there is nothing to prevent blistering because it is a genetic disease,” Wine Lee says.
She makes sure her patients have access to clinical trials testing possible treatments for the symptoms of EB. Cooper enrolled in a trial at MUSC Children’s Health testing a cream. Her mother thinks it helps. “We’ve seen a lot of improvement in her healing process.”
Cooper’s skin is fragile, but this butterfly child is being allowed to spread her wings, her mother says. “She has a great personality and she likes to share it. She likes to sing and dance. What else do you like to do, Cooper? You like to drive your Barbie Jeep. You like to build castles and you like karaoke.”
“What do you sing?” a visitor asks.
“Let it go,” Cooper answers. The song comes from the movie “Frozen.”
Cooper can’t let go of the fact that she’ll be dealing with EB for the rest of her life, but Wine Lee says there is great research going on. “I do have hope for future progress in treatments,” the pediatric dermatologist says.
So does Cooper’s mom. “She’s doing great. Her legs have completely healed. We’re pleased with where she is.”