When my son Jarrett was three years old, he was given a diagnosis of Angelman Syndrome, a rare neurological disorder that is characterized by developmental delay, lack of speech, seizures, and walking and balance disorders.
Although I had never heard of Angelman Syndrome, I learned that it affects one in 15,000 people.
Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People typically inherit a single copy of the UBE3A gene from each parent. Both copies of this gene are active in many of the body’s tissues. In certain areas of the brain, however, only the copy inherited from a person’s mother is active. If the maternal copy of the UBE3A gene is missingor damaged because of a chromosomal alternation or a gene mutation, a person will not have any active copies of the gene in some parts of the brain causing the birth defect.
These genetic changes occur randomly during the formation of reproductive cells (eggs and sperm) or in the early stages of embryonic development. Affected people typically have no history of the disorder in their family.
The Angelman Syndrome Foundation was founded to promote the awareness and treatment of Angelman Syndrome through education and information, research, and support for family members and individuals suffering from the disorder.
The Foundation is currently several research initiatives to learn more aboutAngelman Syndrome in the hope that someday soon there will be a medical breakthrough and eventually a cure.
About the Author: Brian Rattner is a  former attorney and successful business executive in New York.
Photo Credit:Â James Estrin/The New York Times
