This article was something for me to do with all the extra time on my hands, since it's summer vacation now. Thought I'd tell you a little about a fairly uncommon disease that I wanted to know about. Hopefully it won't bore any of you to death; I tried to make it as brief as possible.
Osteogenesis Imperfecta. It literally means 'bones that are not perfect at birth'.
I doubt many of you have even heard of this disease. It is a genetic disorder that is characterized by bones that are very weak and break easily (hence the nickname
"Brittle Bone Disease"). Osteogenesis Imperfecta, or OI, is caused by a genetic defect where someone's body doesn't produce collagen. Collagen is a protein found in connective tissue. Not having enough collagen in your body, or having improperly formed collagen, would lead to very weak and brittle bones.
My friend Joe, who inspired me to write this article, has OI type I, and at 12 years of age has suffered from more than 120 broken bones.
There are four types of OI. The characteristics of Type I, which is the least severe and most common type, are: bones that are prone to breaking, loose joints, sclera (whites of eyes) have grayish tinge, spinal curvature, hearing loss, and low amount of collagen.
Characteristics of Type II, the most severe type are: collagen not properly formed, severely deformed bone structure, underdeveloped lungs, and poor quality collagen. People with type II often die when they're born or shortly after.
Characteristics of type III are: bones that are prone to fracture, may be shorter than average height, spinal curvature, respiratory problems, and poor quality collagen. Characteristics of type IV are: bones prone to fracture, shorter than average height, a little bone deformity, and improperly formed collagen. Characteristics for each type can vary greatly from person to person.
There is no cure for OI right now, but there are ways to strengthen bones, correct deformities and help someone with OI move around. Surgery, the use of braces and wheelchairs, physical therapy and medication are all used to help. Rodding surgery is used a lot to strengthen bones and correct bone curvature and deformities. A metal rod is inserted inside the length of the bone to prevent fractures and straighten the bone. Exercise will also help strengthen bones and muscle.
A person will usually get OI because of a dominant genetic defect. Some people inherit it from a parent, and some are born with it even if no one has previously had it in the family. This genetic defect is called spontaneous mutation. An adult who has OI has a 50% chance of passing it on to one or more of their children.
I find this disease very interesting, and it's been an experience to know someone who has it. Once Joe was filmed for a Discovery Channel show. I never got to see it, but I've been trying to track down a copy. So, anyway... I guess that's it. =D
**Goes off to the library to find out more about bone-related diseases with names that even I can hardly pronounce.**
Encyclopedia entry: Bone
My friend Joe