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What the name "Osteogenesis Imperfecta" means?

Osteogenesis means the formation of bones and imperfecta is the feminine of the Latin word imperfectus, meaning incomplete. It is also known as the “Glass Bone Disease”.


 

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What it does to the person?

It makes people deformed and they often appear to never grow tall. It can cause breathing problems as a result of their lungs not being fully developed due to a small rib cage. Their bones are extremely fragile, so the smallest hit can break their bones. People suffering from OI must be extra cautious even with simple activities.


 

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What are the symptoms?

The medical features of OI depends on the type, which is defined according to the quality and quantity of collagens.  Generally speaking, the major symptoms include: 


▪     Bones fracture easily

▪     Loose joints

▪     Poor muscle tone

▪     Discoloration of the whites of the eyes, usually giving them a blue gray color.

▪     Early loss of hearing in some children

▪     Severe respiratory problems due to underdeveloped lungs

▪     Bone deformity, often severe

▪     Short stature, spinal curvature and barrel-shaped rib cage




  

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Which part of the genetic code has the defect?

A person’s bones are weak and fracture easily as a result of poor quality collagen or lack of collagen.  The mutated genes are known as COL1A1 and COL1A2.



 

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Is there a cure or treatment?

At present there is no cure for OI.  All treatments are aiming at increasing overall bone strength to prevent fracture and maintaining mobility.  Patients are given appropriate antibiotics or disinfectants when infections occur.

There is a surgical treatment called “rodding” is an option for people with OI. This treatment involves inserting metal rods through the length of the long bones to strengthen, prevent and/or correct deformities.


 

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How can we help them?

AS FAMILY we should accept them, encourage them, take extra care of him/her by helping them in everyday life, for example, assisting them when they are changing their clothes.  Members of the family must strive to understand their difficulties.

AS FRIENDS we should spend more time with him/her, to communicate openly and frequently with them and discuss their needs. Try to make them feel accepted.  Participate in low impact exercise activities with them, such as swimming. These activities will strengthen their bones and lessen the chance of injury.

AS CLASSMATES we must not discriminate against them or make jokes about them. Show random kindness, for example, helping them to get around.

AS STRANGERS we can give our donations to Osteogenesis imperfecta charities and also give them a hand if you see them encountering difficulties.



 

Web by Stanley Wang from Yew Chung International School HK