Osteopetrosis
Up Meet Kaleb! Osteopetrosis Kaleb's Siblings

 

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):

bulletosteomyletis (infection in the bone)
bulletblindness and deafness (caused by cranial nerve compression)
bulletblood complications including:
bulletanemia
bulletimpairment of white blood cell production can limit the body's ability to fight infection
bulletbleeding complications
bulletstroke

Bone marrow transplantation (BMT) is the only approach that has resulted in a cure of the malignant infantile form (autosomal recessive form) of the disease.  There are a few treatments available. 

Currently, we see the following specialists to help treat this disease (all practice at Children's Hospital in Columbus, Ohio unless noted otherwise):

bulletPediatric Endocrinologist - Dr. Germack
bulletPediatric Ophthalmologist - Dr. Don Bremer
bulletPediatric Neurosurgeon - Dr. Edward Kosnik
bulletPediatric Endocrinologist - Dr. L. Lyndon Key - Difficult Pediatric Dilemmas Clinic in Charleston, South Carolina.
Check out my pictures with Dr. Key from our visit in March, 2003.

Please feel free to write me at kalebsmom@core.com to share your personal experiences or ask questions regarding osteopetrosis.