Working to enhance the lives of children and families living with Osteogenesis Imperfecta.


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What is Osteogenesis Imperfecta? 

Osteogenesis Imperfecta, OI, is a genetic disorder that affects the strength component, mainly type 1 collagen, in bones and is most commonly known as "brittle bone disease".   Bones are formed much like a concrete structure in that there is a framework of steel rods which in bone is the collagen and then there is the concrete that solidifies the structure which in bone is comprised of minerals (mainly calcium and phosphorous).  Imagine if the steel rods were misplaced or faulty, then the concrete would not adhere correctly and create weak spots in the structure.  This is what occurs in people with OI, their bone structure, their collagen, is lacking either in content or amount which creates a poor framework inherently causing weakness in the bone.  Consequently the disorder is characterized by bones that are very susceptible to fracture.  OI is rare and affects every afflicted person differently.  Some may have only a few fractures and others may have several hundred in a lifetime.  There is no known cure and few treatment options.  Children living with OI are often robbed of their independence and of the carefree nature of children as OI mainly affects mobility, either from being in a cast or from bone deformities due to excessive fractures. 

OI is categorized into four main types; type I, II, III, and IV.  These types all vary in severity.  Type I is the least severe and most common form.  Those affected by type I often appear "normal", are of average stature with little or no bone deformity.  Type II is often fatal before, at, or shortly after birth as very little type 1 collagen is present in the bone, this is also the rarest form of OI.  Type III and IV are similar and are most commonly characterized by the severe bone deformity and small stature of those affected.  Although OI is a genetic disorder it is spontaneous in approximately 25% of all cases, meaning that there is no genetic history present in the family.

For more specific information on OI visit Genetics Home Reference or the OI Foundation


What can be done to treat OI?

Currently there are few treatment options offered for OI children.  There are ongoing studies of different drug therapies, most commonly bisphosphonates.  This drug is often used in the treatment of osteoporosis.  The findings thus far in the OI community on the effectiveness of these drugs are guarded.  Although they have shown to aid in increasing bone density they have some difficult side affects.  For more information on bisphosphonate use in the OI community visit the OI Foundation.  At present it appears that the best treatment for OI is prevention.  As daunting as that may sound to parents of OI children there are some important things that can assist in that treacherous task.

1.  Healthy diet is essential to maintain a healthy weight.  Obesity may cause undue strain on already weak bones and joints resulting in fractures.  Keep in mind that OI is a genetic disorder of type 1 collagen and has little to do with the amount of calcium consumed.  Though we are all short on vitamin D, especially in colder climates where we are not able to consistently absorb as much from the sun, so eating foods rich in vitamin D is helpful such as fish oils, fatty fish, eggs, mushrooms and fortified cereals, milk and juices.  Speak with a physician/dietician before beginning any supplements.  Following the federally established guidelines for healthy eating is the best measurement, see for more information.

2.  Appropriate low impact exercise program.  All children (and adults) with OI need to stay as active as possible in order to maintain good bone health.  Bones are like everything else, if they don't get used enough and properly, they don't stay healthy.  Stay active by doing low impact exercise such as; walking, biking, and swimming.

3.  Maintain a safe environment.  As obvious as this sounds, with young children it is not always easy.  The main thing to consider with young children is to keep the floor free of obstacles such as toys, blocks, books and other items that may lead to slips or tumbles.  Again, an obvious idea, but not always easy to maintain.

4.  Enroll in physical therapy after fractures.  Physical therapy is a great post fracture bridge to get an OI child (or adult) moving again.  Fractures often require weeks in heavy casts where joints and muscles become stiff and weak.  Physical therapy, especially in a pediatric environment, can be very helpful for working on balance, strength and mobility. 


( Above:  Bennett at Pediatric Therapy Services, Inc. Mankato, MN with his therapist Lisa)



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