July 21, 2019
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.
Cause
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.
Signs
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
At three and a half months old, my first fracture appeared. Within a year,
I had fractured three more bones. The doctor after having a series of tests
explained to my parents that I suffered from Osteogenesis Imperfecta and
that they will need to prepare me for life on a wheelchair because my body
was not creating the collagen or protein required to develop my bones. It
was not easy for a hyperactive child like me who loved dancing and singing,
and I often blamed my falls and broken bones on my clumsiness. When I was
young, it was difficult for me to understand that I am not normal but a
special child. You don’t know what to feel. It is not an easy feeling to
cope up with 3-4 fractures a year. Those situations started becoming normal
for me when I used to get fractures randomly. I had numerous fractures till
date, but after 50, I have stopped counting as I was feeling my bones are
brittle but I will not allow the disease to break my heart. Sai
Kaustuv Dasgupta, Motivational Speaker
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: https://newzhook.com/story/understanding-osteogenesis-imperfecta
