Prevalent in close to 1 in 2000 births, this common, yet relatively unheard of genetic condition involves a deletion of the 22nd chromosome and presents itself many different ways.
Many children with the deletion have issues with their heart or speech or difficulties swallowing.
The International 22q11.2 Foundation, Inc. is an organization dedicated to improving the quality of life for people affected by differences in chromosome 22q11.2 (22q).
In addition to the Atlanta event, more than 10,000 people in 120 Cities and 26 Countries are expected to gather at zoos, parks and playgrounds to raise awareness of conditions associated with differences in chromosome 22q11.2 (22q).
"The number of people walking around undiagnosed is staggering. With increased awareness, we will drive enhanced detection, care and hope for 22q patients and their families," said Sheila Kambin, parent of a child with a chromosome 22q11.2 deletion and International 22q11.2 Foundation Board Chairman.
The Foundation offers the following to 22q families: opportunities to connect with other 22q families, educational seminars and conferences for families to learn more about the conditions from medical experts across the world, informational updates providing the latest on 22q from researchers in the field, and strengthening support of one another via friend-raising events.
“These conditions may cause a variety of medical problems such as heart defects, problems fighting infection, differences in the palate (roof of the mouth), and developmental delay or autism, to name a few, but no two children are affected in the same way,” said Donna McDonald-McGinn MS, LCGC, Founding Board Member of the International 22q11.2 Foundation, Inc. “The 22q11.2 deletion is generally identified as a new difference in the child born with associated features, but at times can be found in a parent as well, whereas the 22q11.2 duplication, is frequently identified in many members of the family over several generations.”
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