This is me and my Mummy at Wishbone Day. The Wishbone Day is an international community awareness effort for OI. It is officially celebrated of the 6th May each year.
"Why is Wishbone Day Important?
Because awareness makes a difference!"
For more information see also www.wishboneday.com
About OI
[Reference: US National Library of Medicine;
http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm; 25/05/2015]
Osteogenesis imperfecta is a condition causing extremely fragile bones.
Causes
Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by a defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.
OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations.
A person with OI has a 50% chance of passing on the gene and the disease to their children.
Symptoms
All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below average height (short stature). However, the severity of the disease varies greatly.
The classic symptoms include:
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Blue tint to the whites of their eyes (blue sclera)
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Multiple bone fractures
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Early hearing loss (deafness)
Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet. Some types of OI also lead to the development of poor teeth.
Symptoms of more severe forms of OI may include:
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Bowed legs and arms
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Kyphosis
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Scoliosis (S-curve spine)
Treatment
There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications associated with OI.
Bisphosphonates are drugs that have been used to treat osteoporosis. They have proven to be very valuable in the treatment of OI symptoms, particularly in children. These drugs can increase the strength and density of bone in persons with OI. They have been shown to greatly reduce bone pain and fracture rate (especially in the bones of the spine).
Low impact exercises, such as swimming, keep muscles strong and help maintain strong bones. Such exercise can be very beneficial for persons with OI and should be encouraged.
In more severe cases, surgery to place metal rods into the long bones of the legs may be considered to strengthen the bone and reduce the risk of fracture. Bracing can also be helpful for some people.
Alternative Names
Brittle bone disease
References
US National Library of Medicine
http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm
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Marini JC. Osteogenesis imperfecta. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics.
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Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team. (8/22/2013)