Diagnosis

In many people the diagnosis is made through finding any of the disease symptoms or finding a fracture pattern associated with the disease.  Although this is the most common way to diagnosis Brittle Bone, sometimes none of the symptoms are present.  When this is the case, doctors can see the abnormal fractures and bone placement an x-ray. A common way to see Brittle Bone in usual cases is through extra bones in the skull called "wormian bones."  If the patient lives in the United States, two ways of testing are present, though neither test is more than 85% accurate. The first way is to take a skin sample, refine the cells, and examine the amount of collagen produced. The other way is to take a blood sample and try to find the genetic mutation taking place in the gene coding for collagen formation that would lead to Brittle Bone.

Treatment

The main treatment for Brittle Bone is trying to heal the fractures as they occur. In more severe cases, a patient must undergo surgery in order to place pins or rods in the arm to maintain stability and strength. For parents, a helpful tool in maintaining the child’s health is to obtain competent occupational therapy. Therapy is helpful in teaching the parents ways to cope with their children, what kinds of wheelchair or accessibility device their child must have, what kinds of changes their house or lifestyle must undergo, and ways to ensure a proper education. No drugs are yet proven to help Brittle Bone, though one trial has been promising.