HUP tackles rare disease

Gisela Samudio, a Panamanian woman of 26, was diagnosed with a rare bone disease 12 years ago. Despite her condition, she runs her own business selling clothes. Samudio suffers from fibrodysplasia ossificans progressiva, an illness which has rendered her jaw, neck, spine, right elbow, right hip and right leg immobile. From a simple wisdom tooth surgery, her jaw muscle turned to bone. "You can move a part of your body easily one day and eventually it reaches a point where you can't move it anymore," Samudio said at a symposium on the disease sponsored by the Medical School last week. There are only 200 cases in the world like Samudio's -- 90 of which have been diagnosed in the United States. And University physicians care for nearly all of the patients in the U.S. who suffer from the crippling disease. The Department of Orthopedic Surgery is also the only department in the world searching for the cause and cure for the disease. "Penn became involved because two physicians working in very different areas wanted to use their separate experiences to help the children they had seen with this devastating disease that imprisons people in their own bodies," said Fredrick Kaplan, associate professor of orthopedic surgery at the Hospital of the University of Pennsylvania. "We decided to come together and commit our energy and expertise into an area which was void of basic and clinical research." Two 13-year-old girls at the symposium were diagnosed with the illness at age three. Neither of their cases is as serious as Samudio's, who is bound to a wheelchair. The girls are able to walk on their own and participate in most recreational activities -- excluding gymnastics and other physically demanding sports. One of the girls, Ashley Kurpiel from Georgia, did not, in contrast to Samudio, have to re-learn how to do ordinary tasks. But the everyday tasks she does partake in are often difficult. She has problems with everything from raising her hand in class to getting dressed and reaching for her breakfast dishes each morning. Because of the rareness of the bone disease, Kurpiel has encountered challenges in the hospital itself. As a baby, she was misdiagnosed as having cancer and consequently had her entire left shoulder and arm removed unnecessarily. "Sometimes when I look at someone with two arms I say to myself, 'I wish I had two arms,' " she said. Kurpiel and the other 13-year-old girl at the symposium, Marin Wallace from Southern Ontario, Canada, said they have managed to thrive in spite of their conditions because of the power of positive thinking. "When you think about it, you get sort of depressed," Wallace said. "You learn to live with it. You have to." Fibrodysplasia ossificans progressiva is characterized by excessive and uncontrolled bone growth. It is called the "stone man's disease" muscles, tendons and connective tissues actually transform into bone which cannot move. The disease is caused by a genetic defect that is detectable during infancy, and eventually cripples the entire body. Patients from around the world, their families and scientists gathered at the conference to exchange information about the disease. "You have to adjust yourself to many things," Samudio said. "I had to change from being right-handed to left-handed." "You deal with what you got," she added. "If you receive lemons, make lemonade and always try your best."

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