15. Osteogenesis Imperfecta: A Disorder Affecting Bone Strength and Formation
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder that affects the strength and formation of bones. OI takes the framework of the body, the bones, and turns them fragile, leading to a cascade of symptoms. The condition is caused by mutations in genes responsible for producing collagen, a protein essential for bone strength and flexibility.
People with OI are prone to fractures. Their bones can break from minor falls or, in severe cases, even from a sneeze or a cough. It’s as if the bones are made of glass, ready to shatter at the slightest provocation.
Bone deformities are common in OI, affecting the person’s height and shape. The body seems to fold in on itself, refusing to grow and stretch as it should.
Blue or grey sclera, the white part of the eyes, is another characteristic of OI. It’s an unexpected symptom, the eyes reflecting the turmoil within the bones.
Hearing loss can occur in some people with OI, usually starting in early adulthood. It’s like the world gradually fading out, the sounds becoming softer and more distant.
Lastly, fatigue and respiratory problems are common, especially in people with severe OI. It’s like the body is running a never-ending marathon, each day a test of endurance and strength. (15)
