Brittle Bone Disease

(Image courtesy Morah, 2009)

Imagine what you’d be like if you were born with all your bones broken? Yeah, that’s right! Some people are born that way. They have a rare genetic disorder known as oesteogenesis imperfecta , Lobstein syndrome or brittle bone disease.

Osteogenesis imperfecta (OI) means that the bones in the body are imperfectly formed, as a result they are very fragile and  break easily. The disease can be mild or severe. In severe cases, the person suffers from respiratory or heart failure, hearing loss, spinal cord and brain damages, and even permanent deformities

WHAT CAUSES  BRITTLE BONE DISEASE?

Brittle bone disease is caused by a genetic defect that affects the production and formation of type 1 collagen, a protein used to create bone. The defective gene is usually inherited, but sometimes it due to spontaneous mutation. It is not caused by insufficient calcium or poor nutrition.

There are 4 types of OI. Those with type 2 may die in womb or shortly after birth due to respiratory problem, type 3 has a shorter life span, types 1 and 2  have almost normal lifespan but they require wheel chair or crutches to walk

SYMPTOMS

Symptom varies according to type and severity, all sufferers have fragile bones. Other symptoms include;

·         Short stature

·         Multiple broken bones

·         Loose joints

·         Weak teeth

·         Blue sclera (i.e discolouration of the white of the eye)

·         Scoliosis (abnormal curvature of spine to the sides)

·         Hearing loss

·         Respiratory problem

·         heart  defects

HOW  CAN  ONE  DETECT IT ?

There is no definitive test for it

·         X-rays to view broken bones

·         Ultrasound during pregnancy also shows broken bones

·         Lab test (skin biopsy) to analyse  structure and quantity of type 1 collagen

·         Genetic testing to trace source of defective genes

TREATMENT/MANAGEMENT

·         Brittle bone disease has no cure. However, there are therapies that can help increase overall bone strength thus reducing the risk of fractures also increase mobility.

·         Pain relievers, antibiotics, antiseptics.

·         Biophosphonates can improve bone mass and reduce pain and fractures.

·         Low impact exercises to help build bone

·         Reconstructive surgeries to correct bone deformities. Rods are placed inside bones especially to help the child walk

·         Mental-health counselling to tackle cases of low self esteem and depression.

·         Next time when you look at your height, that face of yours, or that leg which you feel is not as smooth or straight as you wished, remember there’s someone out there praying to look like you. We are all made in God's image.  (now I know I’m actually talking to myself too)