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Understanding Osteogenesis Imperfecta

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Monday, July 22, 2019

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Osteogenesis Imperfecta-OI also known as brittle bone disease is a rare genetic disorder. The main characteristic of this disease is weak or fragile bones causing them to break easily.

People with OI face severe health issues due to weak bones. Due to risk of causing damage to bones, they are forced to lead life with restrictions. People with OI have to put limits on their lifestyle for their own protection. They can also become dependent on others for care in day to day life. The pain and other health issues associated with the condition also adds to mental stress.


OI occurs in about one in 15,000 people and can affect anyone. Osteogenesis Imperfecta is caused due to defective gene that makes the structural protein collagen.

Collagen is a protein that holds the body together and gives strength to bones. In people with OI, there is shortage of collagen or it is not working the way it should be and makes the bones very weak. Bones become fragile and can break at the slightest impact or pressure.


In some people OI has mild symptoms while others may have extremely fragile bones.

Some symptoms are:

• Fragile bones that break at the least trauma

• Pain in bone

• Deformity in bones like scoliosis or bowlegs

• Short stature

• Brittle teeth

• Tint in the whites of the eyes

• Triangular face shape

• Hearing loss in adulthood

• Loose joints

Cure and diagnoses

There is no known cure for OI at present and medications, healthy lifestyles, therapies can help cope with the symptoms of the diseases. Physical therapy, mobility aides and surgery can be employed depending on condition and severity.

Depending on the severity, Osteogenesis Imperfecta is classified into various types. Till date 15 types of OI have been identified.

The diagnoses can be made by doctors on the basis of family history, frequency of fractures, and by noticing the above mentioned signs.

X-rays, DNA tests, blood tests or urine tests, biochemical testing can be used for diagnoses. Prenatal testing can also be used to detect fractures or bone issues in baby before birth.

"At the time of being born, the doctors handled me like any another baby without realizing that I had OI and caused fractures. Over the years I have realized that lack of awareness about OI is a major issue in society and even the medical fraternity. Many people advised my parents that they should not waste money in my education as it would be a waste. My parents were advised by many people against educating me as society has a biased view about people with disabilities. I am now working and live my life independently and my only wish is to change the perception of people about disabled people. We need opportunities to prove or abilities and not sympathies,” says Sirisha KV, OI warrior.

Source: Newz Hook
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