Philadelphia, PA (PRWEB) April 29, 2013
The International 22q11.2 Foundation, Inc., an organization dedicated to improving the quality of life for people affected by chromosome 22q11.2 (22q) syndromes through family and professional partnerships, is hosting the third annual “22q at the Zoo” Worldwide Awareness Day at zoos around the world on Sunday, May 19, 2013. The event aims to raise the public profile of chromosome 22q11.2 syndromes with affected families, healthcare providers, and educators, who will all be in attendance.
Over 10,000 people worldwide participated in last year’s event and the Foundation is looking to double that in 2013. Zoos in 75 cities in seventeen countries across six continents have agreed to participate thus far. The event will kick off at 11:00 AM local time in Sydney, Australia and travel around the globe, closing at 2:00 PM local time in San Diego, Los Angeles, and Sacramento, California, USA. Sheila Kambin, parent of a child with a chromosome 22q deletion and board chairman of the Foundation states, "The number of people walking around undiagnosed is staggering. With increased awareness we will drive enhanced detection, treatment and care."
The Foundation helps to support families affected by both 22q deletions, due to a small piece of chromosome 22 that is missing, as well as those with the opposite problem, a 22q duplication, due to an extra piece of chromosome material.
“Both syndromes may cause a variety of medical problems such as heart defects, problems fighting infection, differences in the palate (roof of the mouth) and developmental delays or autism, to name a few, but no two children are affected in the same way. Moreover, the problem can be new in the family or, as seen more often with the 22q11.2 duplication, may have been in the family for generations. Most importantly, 22q11.2 syndromes are very common – likely as common as Down syndrome, but until recently there was really no good test to detect these small chromosomal differences,” states Donna McDonald-McGinn MS, CGC, Associate Director of the Clinical Genetics Center and Program Director of the "22q and You" Center at The Children's Hospital of Philadelphia.
For information on the Foundation and the Worldwide Awareness Day event, please visit http://www.22q.org or join the 22q at The Zoo! Worldwide Awareness Day Information Page at http://www.facebook.com/groups/22qAtTheZoo2013. Donations to support the Foundation, including the current "Tell 22 About 22q” campaign, are accepted at http://www.22q.org.
The 22q11.2 deletion syndrome (22q11.2DS) is caused by a missing section (microdeletion) of chromosome 22, which is present from conception and generally found in every body cell. Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. The earlier symptoms are detected, the more doctors can do to help. 22q11.2DS is present in at least one of every 1,000 live births; in one in 68 children born with congenital heart disease; and in five to eight percent of children born with cleft palate. 22q11.2 is almost as common as Down syndrome, but is much less widely-known, partially because it was previously called by a number of clinical names (DiGeorge syndrome, velocardiofacial syndrome (VCFS), CTAF, etc.) before the underlying cause was known to be a missing piece of chromosome that causes a wide range of health problems. No two affected people are ever exactly alike, and not every person with the deletion is affected in the same way. Though not always present, key characteristics include combinations and varying degrees of heart defects, feeding and gastrointestinal difficulties, problems with the immune system such as difficulty fighting infection and autoimmune diseases such as juvenile rheumatoid arthritis, growth delay, palate differences such as cleft lip/cleft palate, kidney problems, hearing loss, low calcium, thyroid problems and short stature, cognitive and speech delay, behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)
About The International 22q11.2 Foundation, Inc.
The International 22q11.2 Foundation was founded in 2003. The mission of the Foundation is to raise the public profile of chromosome 22q11.2 syndromes. The Foundation is made up of a group of parents and professionals who volunteer their time and talents to further promote awareness and connect families, healthcare providers, and teaching professionals with information and resources. They are responsible for organizing and executing educational and fundraising events and conferences. For more information, please visit http://www.22q.org