“415.2 – rib xray2“© by iem-student.org, CC BY-NC-SA 2.0
Broken bones are a common injury among people, with a few broken arms or legs during childhood. However with some people, this isn’t the case. 1 in 20,000 people will develop Osteogenesis Imperfecta, otherwise known as brittle bone disease. Brittle bone disease occurs when there is a mutation or defect in the gene code that creates Type 1 Collagen. This gene code creates bone for your body, and without it you will suffer with bone deficiency. This causes your bones to break, fracture and warp very easily at different severities. These severities vary from having fragile bones, to having heart failure, bone deterioration, and spinal deformation.
Unfortunately, brittle bone disease is diagnosed immediately after birth, or even before. This means that the active and fun childhood experience many kids have is much harder to access for Osteogenesis Imperfecta diagnosed children. However, doctors are working on treatments for this disease. Reconstructive therapy, surgery and implants are helping to decrease the fragility, and reduce the pain. Although there is no cure, treatment does help many diagnosed people cope with the disease.
Nevertheless, some Osteogenesis Imperfecta patients are still thriving despite having to face difficulties. There are famous actors, politicians, and even athletes with Brittle bone disease. Quentin Kenihan, an actor and writer known for his role in Mad Max Fury Road, has Osteogenesis Imperfecta, but still lives his fulfilled life.
If you want to get involved, you can see more at the Osteogenesis Imperfecta Foundation.
Leave a Reply