What is Osteogenesis Imperfecta?

Posted on September 30, 2006 at 08:32 AM

If you are new to OI and want a better understanding of the disease here is a simple description:

Osteogenesis Imperfecta literally means "bone that is imperfectly made from the beginning of life." OI is a genetic disorder of type 1 collagen-- the protein "scaffolding" of bone and other connective tissues. People with OI have a faulty gene that instructs their bodies to make either too little type 1 collagen or a poor quality type 1 collagen. The result is that bones break easily.

Until the birth of my cousin's son two year I had never heard of OI. Up until that point in time, if you had said Osteogenesis Imperfecta to my response would have most likely been "Gesundheit!" or "come again?" But education is the key to understanding. I'd like to think that 2.5 years later I am better educated about the disease and have a better idea of what it means, how it affects people, and what can be done to help those who have it.

To a first timer, Osteogenesis Imperfecta is an imposing sound term, but to deal with the OI Foundation has provided some great resources:

Fast Facts - Basic info about the disorder.

The OI Glossary - terms and phrases related to OI.

a Guide to Understanding Bone Structure - A look at how the disorder affects the bones.

Introduction to OI - a guide to OI for Medical Professionals, individuals and families.

Also, the Wikipedia entry for OI has some good info as well.

If you have any on-line resources you would like to share, leave them in the comments below.

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