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
, 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 abuse
d, 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.