When two-year-old Elisa McCann was born in Palermo, Italy, she was missing a patch of skin on
the back of one hand. The following day, baby Elisa erupted in blisters all over her body. Doctors in 
Rome later diagnosed her with recessive dystrophic epidermolysis bullosa, or RDEB, a rare genetic condition characterized by painful blistering skin injuries from the slightest scrape or bump. The skin of EB patients is so fragile that it is sometimes compared to butterfly wings. Children with severe cases live in constant pain, with chronic wounds that often become infected.

About 20 in every 1 million babies in the United States have EB, which comes in several forms and can range from mild to severe. Left untreated, EB causes painful disfigurement and early death, typically before the age of 30. Understanding this, Elisa’s parents sought the best care for her and reached out to Dr. Jakub Tolar at the University of Minnesota Masonic Children’s Hospital. Dr. Tolar uses hematopoietic stem cell transplantation to treat rare genetic disorders, including RDEB. In mid-2014, the McCanns moved to St. Paul, Minnesota, so she could undergo Dr. Tolar’s experimental procedure that uses bone marrow transplantation, in this case, from her sister, Stella. Since then, she has shown improvement in the course of her disease, and Dr. Tolar is very optimistic about her future with continued treatments. For the first time, Elisa is able to walk and to hold her parents’ hands. While her skin still blisters, it now heals on its own. Parents of children who undergo Dr. Tolar’s treatment call their children Tolar’s Turtles, since their skin becomes tough and scarred just like a turtle’s.

EB is universally regarded as one of the most painful and difficult conditions and children like Ms. McCann suffer daily, with no cure available. However, if all goes according to plan, Dr. Tolar’s experimental stem cell procedure may one day help improve their condition with a life-altering stem-cell therapy that will repair and strengthen their skin, extending both the quality and duration of their lives in the process. She, like many children with EB, is remarkably inspiring and exhibits unimaginable strength and courage in facing adversity.