As a complex childhood disorder, Brittle Bone Disease is the leading condition attributing to fractures in small children. Because fractures are rather small and slight, many parents of children with Brittle Bone Disease, often do not realize the child is sufferin from the condition. For these parents, understanding how the development of brittle bones occurs, the methods for diagnosing Brittle Bone Disease and the treatment options will ensure parents are well educated in this often underdiagnosed childhood condition.
Considered a genetic disorder, Brittle Bone Disease is the condition which describes the fraility of bones resulting from a lack of collagen production within the body. Collagen, an important component in the structure of bone development, is vital to ensuring bones remain strong and healthy. When deficient in collagen production, children will suffer from bones which are frail, break and fracture easily. When a child suffers a fracture or break at a young age, a consideration in testing for Brittle Bone Disease may be prudent.
At stated, diagnosing Brittle Bone Disease often comes, initially, with the onset of fractures early in life. For some children, fractures may occur during the birthing process while other children may exhibit a simple fracture soon after birth. While fractures can be simple and small, many children, with Brittle Bone Disease, are undiagnosed for many years. In addition to minor fractures, parents can often recognize the various other symptoms of Brittle Bone Disease, such as discolored and weakened teeth, shortened stature, hearing difficulty and greying of the whites of the eyes. When these symptoms are present, the pediatrician will begin to run the necessary testing to rule out or to confirm the lack of collagen which attributes to these symptoms.
Testing, to diagnose Brittle Bone Disease, may include DNA or genetic testing, xrays and even a study commonly referred to as a skin punch biopsy. In this procedure, a local anesthetic is injected into the area at which point a small tool is used to punch through the multipel layers of skin, removing a circular tissue sample. Other than a minor surgical dressing, this procedure provides for no complications as part of the diagnosing process.
While there is no cure for Brittle Bone Disease, many pediatricians recommend a series of occupational therapy for parents in methods for preventing fractures from occuring. In these sessions, parents are taught proper hold techniques for children suffering with brittle bones. Additionally, a child diagnosed with brittle bones will require frequent and regular appointments with an orthopedic to ensure bones remain as healthy as possible and to ensure fractures and breaks are repaired as efficiently as possible. In more recent medical advances, gene therapy has been shown to reverse the genetic code involved in Brittle Bone Disease lending promise to the development of a medication or therapy in the near future.
One common misconception of Brittle Bone Disease include the condition and its relationship to calcium deficiency. Because the condition is specifically a result of poor collagen production, the production and process of calcium, within the body, is not a factor. Additionally, another common misconception is the significance of Brittle Bone Disease into adulthood. For many children suffering from the condition, the risk of fractures and breaks slowly declines through chidhood and into adolescence with many adults rarely suffering from the affects of Brittle Bone Disease beyond age 20.
Whatever the degree of Brittle Bone Disease, a child suffering from a lack of collagen production will require extensive physical care throughout childhood and into adolescence. For the parents, understanding the basis for brittle bone development, the recent medical advances and options for preventing fractures, will ensure the child is transitioned into adulthood with little to no health complications associated with the brittle bone condition.