Putting a face on rare skin disorder

Six-year-old Jonathon Connolly enjoys playing, running around with friends, and watching the television show ''Cops," like many other boys his age.

But for Jonathon, ordinary play can have dire consequences. At 3 months of age, he was diagnosed with epidermolysis bullosa, or EB, a genetic disorder that makes his skin extremely delicate. Everyday bumps and falls can cause serious cuts and bruises, and even casual contact with his fragile skin can cause painful blisters and infection. Because it is an inherited genetic disorder, the condition is not contagious. There is no cure.

Last week, People magazine devoted a six-page profile to the Connollys, telling the story of how this Haverhill family handles EB. The family shared their story with People's 3.8 million readers as a way to raise awareness of the disease, which affects about three out of every 100,000 people, according to the National Institutes of Health.

''We're trying to spread awareness and get people to know about and understand it," said Jonathon's mother, Whitney Connolly. She was so moved when she heard that People planned to tell her son's story, she pulled her car over to the side of the road and cried. Jonathon's opinion on the article? ''It's awesome," he said.

His mother said that now that he is a first-grader at Pentucket Lake Elementary School, school has opened Jonathon's eyes to the differences between himself and other children, like his 5-year-old sister, Ariana, who does not have EB.

''He is now very aware that he is very much different, but he is also aware that he's very much the same," his mother said. ''Here at home we don't have anyone treat him differently or say anything about his boo-boos. We try to treat him as normally as any parent would treat their child."

People heard about Jonathon from Angela Sousa, a premed student at Merrimack College. Her interest in EB and friendship with the Connollys was sparked by a film she saw on The Learning Channel, ''The Boy Whose Skin Fell Off," which told the story of man dealing with a severe case of EB. Sousa wrote to People suggesting a profile of Jonathon.

Jonathon's condition requires him to take a bleach bath every other night to kill bacteria in his wounds, a half-hour to 90 minutes of wrapping bandages every night, and a record of his condition kept in a weekly journal by his mother. She brings a binder full of information to every doctor's visit.

''I end up telling some of them a lot more than they can tell me," Connolly said. ''It's very frustrating being a parent and having to tell the doctor about it, when you're looking for answers from them."

Stories like Jonathon's must be told, Sousa said. EB is almost as common as cystic fibrosis, she said, but has a much lower profile.

''There just isn't the awareness," Sousa said. ''And if you don't have the awareness, you can't get funding for research. It's a cause that needs attention."