Their Giant Steps to a Cure

BIOLOGY MEDICINE Their Giant Steps to a Cure Battling arareformofmuscular dystrophy, afamily finds anactivistleader, and hope BY JUDE ISABELLA N 2007, AT HER high school graduation in Ques- | nel, British Columbia, Ivana Topic stood at the top of the auditorium stairs, her long gown skimming ~~ the floor, her dark brown hair spilling over her shoulders. She had on ridiculously high heels. As she eased down the stairs, very slowly, she hung on to her date. She was afraid her knees would collapse, as her muscles were weak for her age. From the audience, Ivana’s mother, Marijana, watched her daughter’s every step, silently panicking and breaking into a sweat. She knew Ivana could eas- ily tumble down the stairs and break a limb. The year before, Ivana had been diagnosed with muscular dys- trophy, an mcurable genetic disease characterized by progressive weakening of the muscles. Antonia, Ivana’s younger sister by five years, was later diagnosed with the same disease. Around the time of Ivana’s graduation, the Top- ics, an unassuming family originally from Croatia, had begun adjusting their lives as best they could, inquiring about ramps everywhere they went, avoiding walking in snow and sleet. For years, Ivana and Antonia had been subjected to endless medical tests. In 2010, they learned they had a rare form of muscular dystrophy, calpainopathy, which affects about 1 in 200,000 peo- ple. The diagnosis meant both would likely be bound to wheelchairs while they were still young women. Today, Ivana is 24. In May, she graduated from col- lege with a bachelor’s degree in finance and general business. She still walks up stairs in her house; her bedroom 1s upstairs. “I’m definitely a fighter, and will try and walk for as long as I can,” she says. “When I notice I’m falling a lot, when I need help a lot, I will go ina chair.” Muscular dystrophy treatment 1s limited to only pal- liattve medications and therapies. Ivana herself prac- tices yoga. While researchers worldwide are working on lasting cures for muscular dystrophy (funded in part by the famous Jerry Lewis Telethons), rare forms like calpainopathy are “orphans,” with only a fraction of ILLUSTRATIONS BY ELLEN WEINSTEIN 31 HOUSE_OVERSIGHT_015491