For 3-year-old Lizzy and 5-year-old Rafi, it's little things that have made all the difference, their fathers said. (Coincidentally, both dads went to the same private high school in New Jersey.) Lizzy goes to pre-school and Rafi is in kindergarten.
Because one side effect of epidermolysis bullosa is malnutrition, Rafi is small for her age, so the kindergartner-sized tables and chairs in her classroom are too big for her.
"They bought other tables and chairs and integrated her with the class so she's never sitting off alone," said Kopelan, Rafi's father, adding that the school also allows a nurse to come to school with her every day. "Without that, her life would be completely different."
Lizzy goes to school, too.
"The fact that she's led a fairly normal life so far has been tremendous for us," said Lizzy's father, Rob Hendrickson.
Although Lizzy's big sister, Katie, 6, is a tomboy and likes to play tag, she goes home to Lizzy and plays skin-friendly games. They like to sing and put on fashion shows, and love to hug and cuddle even though they can't roughhouse like the boys at Katie's school.
Hope through Research
Although there's no cure yet, doctors are working to find therapies to strengthen the skin and eventually replace the missing protein.
In the mid-2000s, a mother of two children with epidermolysis bullosa approached Dr. John Wagner and Dr. Jakub Tolar at the University of Minnesota for a cure and "wouldn't take no for an answer," Tolar said.
Wagner and Tolar don't come from dermatology backgrounds, however. They both worked in cancer research. Tolar is the director of the university's Stem Cell Institute, and Wagner is the director of its blood and marrow transplant program.
After testing a theory that the stem cells in bone marrow would travel to the skin to produce the missing protein in mice, Wagner and Tolar got approval to start a clinical trial in 2007. They've since completed two dozen transplants, and their first patient is still alive today.
"You could actually see the skin repairing by just looking at the kid," Wagner said.
To test skin fragility, Tolar uses a negative vacuum device that he puts on the patient's arm or leg. In a normal person, it would take about an hour to form a blister. In Rafi, for instance, it would take three minutes.
But after Rafi had the bone marrow transplant, her skin took more than 20 minutes to blister. She is not cured, however.
Still, the surgery is controversial. Although Wagner got 200 patient referrals overnight after a paper about his first 12 patients was published in the New England Journal of Medicine, other scientists called him a "witch doctor" because bone marrow hadn't been known to fix skin, he said.
Four patients died after rejecting the transplant, but in both instances, a bone marrow match couldn't be found, so they had to use cord blood instead.
Wagner and Tolar hope to perfect the bone marrow transplant process, which already can't include tape for IVs because it would rip the patient's fragile skin. They're already working on finding a cure through gene therapy, which would involve correcting the epidermolysis bullosa genes, putting them in a virus and infecting healthy cells with corrected genetic material.
In the meantime, Shire, an organization that works on treatments for people with serious medical conditions, has acquired Lotus Tissue Repair, which directly replaces the missing skin protein by delivering it intravenously.