Understanding Osteogenesis Imperfecta

Osteogenesis Imperfecta, also known as OI, is a brittle bone disease. Basically if someone has OI it means that there bones break easily. Their bones could break as a result from moving the wrong way at night to hitting their arm on the counter top. There are different degrees of severity with OI; type 2 would be the most severe, type 1 is the mildest form, and type 3 and 4 offer different degrees of severity.

When someone is classified as a type 2 in most cases it is lethal; at birth or within the proceeding months. With type 1 most of the breaks happen before puberty. Many people reach almost normal height and live a normal and productive life with type 1. With OI type 3 and 4 you run into more problems. Those living with type 3 and 4 are often short in stature, have a triangular shape face (many children with OI look like siblings), may run into respiratory problems, and have poor muscle development.

Others things such as brittle teeth, barrel shaped rib-cage, bone deformity, hearing loss, and the sclera of your eye being either a shade of blue or gray is common. Many of those who fall under the category of OI type 3 and 4 endure countless breaks. Unfortunately, the life expectancy for those with severe OI is shorter than someone who does not have the disease. The most common reasons for death are respiratory failure due to the structure of the bones and accidental traumas due to the breaking of the bones.

With the more severe cases of OI t is not uncommon to be wheel chair bound or to walk with the support of a walker. Some of these people and their families choose a rodding surgery to help with the stability of the bones (in hopes that if a bone breaks it will not break straight through and it will be more stable). The rodding surgery itself is a very long, complicated surgery where a metal rod is actually placed into the bone. Rods can be placed in either the leg or arm.

How does one get OI? Osteogenesis Imperfecta is a disease that you are born with. Almost 85% of the cases are genetic. Either a parent has OI or is carrying the gene. A genetic mutation occurs in about 15% meaning that when the cells were forming something simply went wrong. Neither parent has or carries the gene when a genetic mutation occurs.

Osteogenesis Imperfecta does not affect mental capacity. People that are affected by the disease have the same mental capacity as those who are not affected. Although there is no cure for OI there are things that can be done to aid in a longer and healthier life. Exercise, maintaining a healthy weight, and avoiding foods that deplete calcium from your bones are some of the most common practices. Physical therapy to develop stronger muscles is also encouraged. Swimming and water activities are a great source for both cardio and strength training particularly since you do not have to bare your entire weight while in the water.

Pain medication is often used to provide comfort through the surgeries and in times when you do have broken bones. The use of walkers and wheel chairs also help aid in the independence of those who would otherwise have to depend on others for everything. Osteogenesis Imperfecta is not a choice someone has to make or would want to make, but it is a way of life for thousands of people out there. By understanding the disease a little more hopefully we can help make difference one day; whether it means finding a cure or just being that supportive friend.