TMC PULSE

October 2016

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t m c » p u l s e | o c t o b e r 2 0 1 6 16 "When she was a baby, she would break a bone about once a week," Sarah said. "It's still physically and emotionally painful." But with the bisphosphonate treatments, Andersson's frac- tures have become less fre- quent, giving her the chance to lead a more ambulatory and independent life. Between 20,000 and 50,000 cases of osteogenesis imperfecta exist in the United States, according to estimates from the National Institutes of Health. With more than 800 different mutations currently known to cause OI, biochemical and DNA testing can often help patients and doctors identify the type and severity of the disease, as well as potential therapies. Because Andersson did not exhibit the typical forms of the disease, she confounded doctors, who were unable to genetically determine her condition. Ultimately, she was clinically diagnosed with type 3 OI, considered the most severe of the eight known types of brittle bone disease in children who live past their first few months. Eventually, Andersson adapted to her constantly fracturing bones and learned to become ambidextrous amid a never-ending cycle of pain and necessity. When she broke her left arm, she'd use her right arm to write, eat, draw and perform other activities. When the right arm broke, she'd switch back to the left and start the process all over again. "People think I'm crazy because we wouldn't go to the doctor every single time," Sarah said. "We would be there all the time." It's true. Given the rarity of Andersson's condition, most doctors would waste time scratching their heads, while Andersson already knew the protocol: Wrap the site of the fracture to support it without completely immobilizing it, get comfortable on the living room sofa, turn on the televi- sion to Nickelodeon, and try not to move until the fracture becomes less painful. It usually takes Andersson's body a week or two to heal from a hairline fracture. But when a bone breaks all the way through, it can take up to two months to heal. "I know my body really well," Andersson said. "Every time I break a bone, I can accurately tell what happened to it. If it's just a pop, then I know it's a little pop. But if it's a break, then I can hear the bones." This March, Andersson was walking around her house when she suddenly felt an excruciatingly sharp, cracking pain in her leg, like "a little earthquake in my bones," she said. Her femur had snapped, out of the blue. The metal rod was the only thing keeping her leg straight. "The hardest part about OI is that you never know when it's going to happen," Sarah said. There are currently six classes of drugs—including bisphos- phonates that block osteoclasts from dissolving bone—and at least three new therapies pending Food and Drug Administration approval designed to treat bone loss. But there is still more to be done for patients. "Our goal is to take a situation in which people lose bone, and reverse it," Gagel said. "We have gotten reasonably good at that." While there is currently no cure for OI, osteoporosis and many other bone diseases, doctors at the Rolanette and Berdon Lawrence Bone Disease Program of Texas see new hope on the horizon—for Andersson and millions of others—in the antlers of white-tailed deer. When she was a baby, she would break a bone about once a week. It's still physically and emotionally painful. — SARAH DYKE Mother of Andersson Dyke Top: Robert Gagel, M.D., head of internal medicine at The University of Texas MD Anderson Cancer Center and co-director of the Rolanette and Berdon Lawrence Bone Disease Program of Texas, explains how a healthy bone and osteoporotic bone appear the same on the outside. Bottom: Bone models show the density in a healthy bone (left), and an osteoporotic bone (right).

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