This documentary addresses the genetic brittle bone disorder known as Osteogenesis Imperfecta, or sometimes commonly known as “brittle bone disease”. The congenital bone disorder is characterized by brittle bones that are prone to fracture.
People with OI are born with defective connective tissue, or without the ability to make it. In most cases, that is because of deficiency in Type-I collagen. There are eight types of OI, and most are caused by mutations in the COL1A1 and COL1A2 genes.
Type of 2 OI is the most severe type, when the body doesn’t produce enough collagen, or produces collagen that is poor in quality. Babies with type 2 can die in the womb or shortly after birth. And type 2 OI is considered life-threatening.
Most OI types are not life-threatening. And with good medical management and supportive care, most people live healthy and productive lives. According to some estimates, there are between 25,000 and 50,000 people with OI in the United States.
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