Increase in Osteogenesis Imperfecta Disease in Children

Osteogenesis Imperfecta (OI) also known as the brittle bone disease is one of the fastest growing diseases worldwide. One out of every 40 children is born with this defect. Medical experts call it a genetic disease in children.

In Pakistan such children are treated for free. Talking to HTV, one medical expert informed that the hereditary disease is easy to be treated if diagnosed on early stages. Parents are unaware of the disease and by the time they bring their child, the disease has turned into a time consuming treatment, such as a surgery called Roding.

In this specific surgery metal rods are put inside long bones to straighten them, fix bone malformation and prevent bone malformations, which costs around Rs. 250,000.

The most common form of OI (Type I) is the least severe. The disorder occurs in an estimated one out of 12,000 to 15,000 babies, and equally affects boys and girls of all races and ethnicities. The condition is most often diagnosed by x-rays, history of frequent fractures with minimal trauma; genetic testing of a blood sample (DNA blood test) and bone density scan (DXA).

He further said the children must be injected every 6 months. Although it costs Rs. 16,000, NICH – Karachi offers these injection for free. Osteoporosis is also treated by drug named Bisphosphonates which have proven to be very valuable in the treatment of OI particularly in the children.

The drug works by increasing and strengthening density of bone in patients they even reduce bone pain and fracture rate especially in spine.

About 85% of the defects are in collagen the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI affect other proteins in bone.

Genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong. When these genes aren’t working properly, there isn’t enough collagen, or the collagen doesn’t work properly. This leads to weak bones that break easily.

It is must to take special care of children with Osteogenis as their weak bones can break very easily. Sometimes their bones break for no known reason. OI can cause many other problems such as weak muscles, brittle teeth, hearing loss and child stature.