Osteogenesis Imperfecta (OI) is a broad group of genetic mutations that cause a defect in the way the body manufactures collagen. The general defects are the insufficient production of normal collagen and/or the production of abnormal collagen. A person can have more than one defect, and therefore, may be classified as having a mixed type of OI.
The most common and obvious effect is brittle bones. There are currently 4 classifications or types, with each type having a range in severity. Because most cases of OI are new genetic mutations, each person's genetic defect is slightly different. This means that each person with OI is different from each other person in regards to the specific effect this has on thier body. Some people tend to break only certain bones, while others seem to (and sometimes do) break just about everything. The severity of OI is extremely broad. The most mildly affected people may not ever break a bone or may break only a couple times in their life, while the most severely affected break hundreds of times and may die prematurely from fractures, skeletal or spinal deformities, respiratory or other complications.
Not at this time.
There are several researchers around the world working on OI. More is known about OI every year, but there is currently no cure. This increased knowledge about OI, combined with the general advance of medicine has led to better and more effective treatments. This in turn, has helped many people with OI to lead a more "normal" life.
It is difficult to say if there will ever be a cure for OI. Because of the wide variety in genetic mutations (almost every person is unique), there may never be a cure that encompasses all types of OI. The most promise for a cure is for those people that produce normal collagen in insufficient quantities.
There are several studies underway using bisphosphonates (these drugs are often used to treat osteoporosis). These drugs interrupt the body's normal process of building up and tearing down bone and tips it in favor of building bone mass. Initial reports are generally favorable but no long term data is yet available on using these drugs on children. There is also at least one study being done with bone marrow transplants.
This depends on the severity of your OI and your idea of a "normal"
life. Most mildly affected and many moderately to severely affected people are able
to gain independence. They are able to complete school, get jobs, marry and have
families. A lot depends on your attitude, perserverance and ability to adapt to
changes brought on by fractures and other problems related to OI and life in general.
Many people with OI are quite capable of having children. Many women with OI do
have additional physical considerations than women without OI. In general, they will
have less room to carry a baby because of shorter stature and/or spinal curvatures.
They may also be at a greater risk for fractures or soft tissue injuries because of the
additional stress placed on their bodies during pregnancy.
Generally, people with type I OI have blue sclera. Only a small number of people
with types III and IV have blue sclera. The sclera looks blue because of the
thickness of the tissue over the eye. This is affected more by the amount of
collagen produced than by the quality of the collagen.
Some people have reported that their sclera color changes, generally in periods where
they are more prone to fracture. Usually, people feel that they have more fractures
during periods when the sclera color gets darker or more intense.
There are 4 possible ways to get OI.
Yes, in some cases. Tests that can be done include CVS, and
Ultrasound (sonograms). CVS and can be done to test for OI in
cases where there is a high likelyhood that the fetus has OI (parent has OI or previous OI
birth), but may require previous test results from a parent or sibling for comparison for
timely results. Ultrasounds can often detect in-utero fractures or deformities that
could indicate OI.
OI is caused by a problem with the collagen, not calcium. While calcium may help
a few people that have a low bone mineral content, generally it does not cause a
significant improvement in reduction of fractures.
NO. While your child will not outgrow OI, they will probably suffer fewer
fractures as they enter puberty. Some of this is caused by the body's chemical
changes as a person enters puberty, and some by the child learning to be more carefull in
what, and how they do things.
It is a good idea to have some way to communicate to people in an emergency that you
have OI. If emergency personnel are unaware that you have OI, they may unknowingly
cause additional injuries while treating you for injuries you may already have. A
medic alert bracelet or necklace can help alert emergency responders to any special needs
or problems you may have.
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