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NAUTILUS EDUCATION BETA PRODUCT “I mdefinitelya fighter, andwilltry and B) walk for as long as Ican.’ researchers and funds devoted to them. With quiet stoicism, the Topics have accepted that modern medi- cine may not have a solution for their daughters’ dis- ease. Still, says Marijana, “Without hope, there’s no life.” Following a current grassroots trend in medicine, many individuals with orphan diseases do not wait for the medical industry to care about them. Facing long odds, they are forced to raise money to find a potential cure themselves. But the Topics live by modest means. Maryana runs a daycare center and her husband and the childrens’ father, Niko, works for a lumber com- pany. They are in no position to mount a quest. But then there’s Michele Wrubel, 49, a stay-at-home parent from Connecticut who has calpainopathy. For years, Wrubel has been a passionate crusader for a cure. Affluent and well connected, she doesn’t varnish the truth about what it has taken to make the medical industry pay attention to her. “To make a difference in this disease, you need money and meetings,” she says. “Researchers are not going to study a disease unless there’s money behind it to fund the research.” For the Topics, Wrubel may be their best hope. THE GLOBAL GENES PROJECT, an advocacy group, estimates 350 million people suffer from orphan dis- eases worldwide. Most rare diseases are genetic and tend to appear early in life. About 30 percent of chil- dren who have them die before reaching their fifth birthday. The rest battle their conditions throughout life, as most orphan diseases have no cure. Out of the 7,000 orphan diseases identified to date, with about 250 new ones added annually, less than 400 can be treated therapeutically. This year the European Commission gave 144 million euros to develop 200 new therapies and the 32 National Institute of Health allocated $3.5 billion to research orphan diseases. Yet some diseases are so rare that they remain stepchildren even among orphans. As a result, they receive little research attention and funding. Neither do they fit the list of billable msur- ance procedures. There’s no standard healthcare path to diagnosis, let alone treatment. Similar to the Topics, many patients go through an ordeal, which Maryana describes as “a blur,” only to find out that medicine can’t help them. Orphan disease organizations, such as the National Organization for Rare Disorders and the Rare Disease Foundation, encourage patients to take matters into their own hands. “Families have to advocate,” says Isa- bel Jordan, chair of the Rare Disease Foundation. She encourages patients to form organizations, find new methods of funding, and push for research. “Push for research” could be Michele Wrubel’s call- ing card. She was diagnosed with muscular dystrophy in her mid-20s. But even though calpainopathy was identified nearly 20 years ago—about the same time Wrubel got her initial diagnosis—it took almost the entire second half of her life to determine that she was afflicted with calpainopathy. There were no clinical procedures that would lead to a diagnosis. “Tt took a really long time and a very concerted effort,” says Wrubel, who walks with canes, submitting to a wheelchair for long trips or when in crowded places. “Tf you don’t know what you’re looking for, they don’t know whatto tell you or how to help you,” she says. In 2008, gene sequencing came of age, which aided physicians in diagnosing muscular dystrophy subtypes. That year, Wrubel’s husband, Lee, who holds a medical degree and a master’s in public health from Tufts, an MBA from Columbia University, and 1s a venture cap1- talist in the medical field, tracked down a neurologist HOUSE_OVERSIGHT_015492