The reason for this site is to share some of my limited knowledge of a bone disease that affects at least 9 out of 33 of my family members. Unfortunately, my son Kaleb was diagnosed with the autosomal dominant form of osteopetrosis. Kaleb had a rare complication of this form of the disease and underwent optic canal decompression surgery to try to prevent blindness.
The disease is an inherited disease caused by a defect in bone resorption--the process in which old bone is broken down and removed so that new bone can be added to the skeleton. It manifests itself in two major different forms (autosomal recessive and autosomal dominant) and to different degrees.
Many of the sites you will find on the web will NOT make a distinction between the two different forms of the disease. It is important to understand that there are two major different forms. The autosomal recessive form is more severe than the autosomal dominant form but different degrees of each form have been documented.
Fortunately, most of my family have suffered only from broken bones but the other symptoms of the disease include (but are not limited to):
Currently, we see the following specialists to help treat this disease (all practice at Children's Hospital in Columbus, Ohio unless noted otherwise):
Please feel free to write me at firstname.lastname@example.org to share your personal experiences or ask questions regarding osteopetrosis.