Their Giant Steps to a Cure
Medicine: Battling a rare form of muscular dystrophy, a family finds an activist leader, and hope by Jude Isabella. Nautilus Magazine, August 2013
In 2007, at her high school graduation in Quesnel, 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 too 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 easily tumble down the stairs and break a limb. The year before, Ivana had been diagnosed with muscular dystrophy, an incurable 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 Topics, 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 people. The diagnosis meant both would likely be bound to wheelchairs while they were still young women.
Read the rest at Nautilus.
Surprising science: orphan diseases, genetic sequencing, and social media.