Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or "Lobstein syndrome") is a congenital bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.
There are eight different types of OI, Type I being the most common, though the symptoms vary from person to person.
At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.
There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat those experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive. The U.S. Food and Drug Administration (FDA) will not approve Fosamax as a treatment for OI because long term effects of the drug have not been fully researched yet, although it is often used in preteens, instead of Pamidronate.
Although there is no known cure for OI, regular weight-bearing exercise, a diet rich in calcium and vitamin D, a healthy lifestyle, and, in some cases, vitamin supplements will help off-set early development of osteoporosis, prevent future fractures, and delay other health concerns related to OI.
Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.
These rare diseases are not just limited to the United States. Here is a story of a little boy in Sri Lanka.
The Osteogenesis Imperfecta Foundation has created a public service announcement:
The "cheat sheet" about OI from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.