Osteogenesis Imperfecta

Osteogenesis Imperfecta:
a genetic bone disease characterized (most commonly) by an inhibited ability of the bones to absorb calcium, a mineral commonly used by the body to develop tooth enamel and hair, and well, bones.This directly limits the formation of collagen, resulting in softer bones than would be normally expected. Fractures are common, and deafness and problems with the teeth are sometimes symptoms as well.

Osteogenesis Imperfecta, also called Brittle Bone Disease, means literally "imperfect bone formation". It can be the result of direct genetics - two parents who are carriers of the gene - or of a random genetic mutation, which accounts for a surprising number of cases. Bones are brittle and weak and tend not to grow straight - many people with OI have extremely curved spines which limit mobility. People with the more severe forms of OI (type III, mostly) tend to have stunted growth - 3'5" would be considered tall. The shortest man and shortest woman in the Guinness Book of World Records - both at just over 2 feet tall - both suffer from OI. The harsh curvature of the spine tends to make the already diminished height seem even less. Babies with OI are often born with blue-ish teeth and eyes (the whites of the eyes, not the iris). Hearing loss is very common in adulthood, generally beginning in the person's late 20s. Fractures and breaks are very common, especially in babyhood and childhood, while bones are still forming. Because of this, many children with milder forms of OI, where the disability is not as visible but where the weak bones and thus many breakages nevertheless exist, are suspected of being abused, and some have been seized from their parents. Back pain is also very common. OI does not cause infertility, but for most OI women giving birth to a normal sized baby would be a very dangerous proposition with a high risk of shattering their pelvis. Children of people with OI would have a 50% chance of being born with OI themselves.

OI is very rare, and thus not the subject of major research, but some developments have been made in treatment. A new drug recently developed has been tentatively shown to help straighten children's bones in development, avoiding the need for surgery. Common treatments include surgery to straighten bones by breaking and re-placing bones or inserting metal rods; surgery to insert a metal rod along the spine; cosmetic whitening of blue teeth; physiotherapy to develop exercise regimens and living skills for unusual body shapes. Most people with a severe form of OI require an electric wheelchair or at least braces and/or a manual wheelchair to move around. Some have trouble typing because of their small hands. Most require adapted office furniture and homes to accomodate their small stature.

OI does not in any way affect the intellect.

Osteogenesis Imperfecta is the genetic disorder with which I was born. Luckily mine is a very mild case.

With the different structure of the cortex of the bone, x-rays often will not show hairline fractures when used at normal settings. This often leads to misdiagnosis of injuries for many mild OI patients and such mistakes may cause lifelong pain at the fracture site.

Many mild OI patients claim to 'know' when they are most vulnerable to breaks due to a perceived change in the blue sclera that is found in most patients. This claim has not been substantiated.

Mild OI patients can usually function normally in society with only moderate concern for their condition. For instance, I have had only 150 breaks in my life that I have counted (I stopped counting little things like fingers and toes a long time ago) and have learned many methods of avoiding fracture situations.

Even mild OI cases can demonstrate tendencies to stress fracture. One stress fracture that commonly occurs is in a metatarsal in the foot.

Stunted growth does occur in some of the mild cases, but not all cases. In fact, many mild OI patients grow to average proportions.

Genetic research, such as that done for Muscular Dystrophy, may eventually lead to a cure. Until then, OI remains a mysterious disease affecting less than 1% of America.