By Meaghan Casey
Energetic and bright-eyed, 12-year-old Jonathon Connolly dreams of becoming a wrestler or firefighter one day.
Yet, a debilitating, rare skin disorder makes it impossible for Connolly to even step foot in the ocean, much less a burning building.
Connolly was diagnosed at three months old with epidermolysis bullosa (EB), a genetic condition that causes the skin to be extremely fragile and blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching, or even in response to the lightest contact with other individuals. In the U.S., about one in 50,000 people are born with EB. They are known to the world as “butterfly children” because of the fragility of their skin, often compared to the texture of butterfly wings or tissue paper.
“Like most kids, I have hopes and dreams, but I understand that I will never be able to play football or hockey or wrestle,” said Connolly, who attends a public middle school in his hometown of Haverhill. “And I am not the only one affected by my condition. My family is too. Whenever we want to do something, my parents need to decide if it’s something that I can do or if there’s a potential danger to me, and we always have to have plenty of extra supplies in case I fall or get bumped in a crowd.”
“In the beginning, the thought of home schooling crossed my mind, but socially and emotionally, it’s been the right choice for him to be around other kids, even if it requires a little extra work,” said Connolly’s mother, Whitney.
His daily routine requires administering to the blisters and wrapping his knees, feet, hands and elbows with bandages. On occasion, he also requires bleach baths for fighting infection. Every six months, he visits a dermatologist and EB specialist at UMass Memorial Children’s Medical Center.
Though there is no current treatment for EB, only palliative care, Cambridge-based Lotus Tissue Repair is in the process of developing a new protein replacement therapy that would play an important role in accelerating chronic wound healing and reversing the blistering phenotype for patients with dystrophic epidermolysis bullosa, one of the major forms of EB.
“The vision is to prevent further lesions,” said Lotus President and Chief Executive Officer Mark de Souza. “Our approach directly addresses the primary driver of the disease—deficiency or dysfunction in collagen type VII—and could mark a paradigm shift in long-term management of the disease.”
Lotus was founded last year with $26 million in financing from Third Rock Ventures. On Feb. 29, the company announced that it is providing grants to support the development and maintenance of the first international EB patient-reported registry, EBCare.org. The registry was launched by the DEB Research Association (DEBRA) International and DEBRA of America in conjunction with Rare Disease Day.
“One of the biggest challenges we face when working to treat rare genetic diseases is the lack of robust patient information,” said de Souza. “We are hopeful that this registry provides physicians and researchers with valuable patient-reported information on the prevalence, diagnosis, symptoms, medical care and the social and financial burden of illness associated with EB.”
De Souza hopes to begin clinical trials as early as next year. For Connolly and his family, there could be no better news.
“There may be hope for future generations of butterfly children to be able to fulfill their dreams, and that’s one thing that would make me very happy,” said Connolly. “If I could rate my level of happiness after hearing about the work they’re doing, it would be to the moon and back,” said his mother.