Elisa McCann, diagnosed with epidermolysis bullosa after birth, is improving after treatment at University of Minnesota. Photo credit: Samantha Okazaki, NBC News
Children with epidermolysis bullosa (EB) face large life challenges from the get-go. The genetic disorder leaves skin extremely fragile and with visible rashes and painful blisters. According to an NBC News report, approximately 25,000 to 50,000 Americans, mostly children, live with EB and people who don’t receive treatment often die by the age of 30.
But a clinical trial led by Jakub Tolar, M.D., Ph.D., professor and pediatric blood and marrow transplant physician at the University of Minnesota Medical School, may help improve the quality of life for those diagnosed with EB.
“This is one of the most difficult to treat disorders and a very painful disorder,” Tolar said in the NBC News report. “Before we started, there was absolutely nothing that would change the outcome of these children.”
Despite being born with a severe form of EB, Elisa McCann appears determined to overcome the odds. After Elisa was born in 2013 and diagnosed with the condition, her mother, Gabriella McCann, sought the best treatment available.
“I said I want to know the No. 1 doctor in the world who can do something about this,” McCann told NBC News.
That’s where Tolar stepped in. Elisa has received bone marrow transplants from her sister Stella, 3, which seems to be helping. Elisa’s rashes are getting smaller and have started to heal themselves.
“My daughter didn’t have a life before,” Gabriella McCann said. “Now my daughter has a life and they’re pretty sure she won’t blister as much as before.”
To read the whole report, click here.
To read more about Tolar’s pioneering work with EB, click here.