Brittle Bone Disease

No approved treatment has clearly shown efficacy in reducing fracture frequency or treating sarcopenia in osteogenesis imperfecta. Stephenson had experienced more than 200 fractures by age 18. Stephenson was born with brittle bone disease and doctors told his parents he would likely die within the first day of life. Each broken bone required four to six weeks of healing, and multiple fractures could occur simultaneously. Ordinary bodily movements such as sneezing, coughing, or dressing could cause serious fractures. Core manifestations of osteogenesis imperfecta include fractures, pain, deformity, sarcopenia, aortic root dilatation, and hearing loss. Osteogenesis imperfecta has a wide severity spectrum, ranging from early infant death in severe cases to elevated fracture risk and fatigue in mild cases. Brittle bone disease is a condition that kills many people long before they reach Stephenson's age. Osteogenesis imperfecta is the most common inherited cause of bone fragility and occurs in about 1 in 16,000 people.