Just like many other teenagers, Caleb Jones, 18, of Travelers Rest loves playing Xbox and watching movies. His dog, Koa is his best friend. But unlike most others his age, Caleb struggles with daily activities. Caleb has velocardiofacial (VCF) syndrome.
VCF syndrome is one of several genetic disorders caused by an abnormality of chromosome 22. The q11.2 designation identified what part of chromosome 22 is either missing or duplicated. Individuals affected with a 22q11.2 disorders may have a variety of medical problems including heart defects, problems fighting infection, cleft palate, and developmental delays or autism. There is tremendous variability between affected individuals.
“We became concerned about Caleb’s development when he was very young, and his delays were even more apparent when he started school,” said his mother, Jody Jones. “But, it wasn’t until Caleb had a seizure at age 15, that we finally found a diagnosis. We felt a huge burden lifted from our shoulders after the diagnosis, knowing that it wasn’t something he could help, and it wasn’t our fault as parents.”
Jody’s passion for raising awareness for this group of disorders has led her to coordinate the 6th annual ’22q at the Zoo’ event at the Greenville Zoo on Sunday, May 22 from 1pm-4pm. This event is held at zoos across the world and is organized by the International 22q11.2 Foundation, a group dedicated to improving the quality of life for individuals affected by 22q11.2 syndromes. In 2015, over 10,000 people attended events in 115 cities across the globe.
22q at the Zoo will be a fun event for families to connect and learn more about the diagnosis while also enjoying the animals, and participating in other activities including face painting and crafts. Caleb’s geneticist, Dr. Curtis Rogers of the Greenwood Genetic Center’s Greenville office, will also be providing a question and answer session with families.
“While most people have not heard of 22q11.2 syndromes, they are relatively common affecting around 1 in every 2,000 individuals,” said Dr. Rogers. “They can be inherited from a parent, but also often occur without a family history, and because the symptoms vary greatly between individuals, they can sometimes be tricky to diagnose.”
“Because of Caleb’s diagnosis, we know what we’re facing and it has brought our family together to work as a team,” said Jody. “We are all so excited about the event at the Greenville Zoo to spend social time with other families who can relate to what we’ve experienced.”
Photo: Family enjoying the animals at 2015 ’22q at the Zoo’ event.
About the International 22q11.2 Foundation
The International 22q11.2 Foundation was founded in 2003 to improve detection and awareness, provide the latest information to families, support continuing research, improve available treatment strategies, and provide individuals with the syndrome support in leading successful and productive lives. For information on the Foundation and the Worldwide Awareness Day event, please visit ww.22q.org or join the 22q at the Zoo Worldwide Awareness Day group at facebook.com/groups/22qAtTheZooWorldwideAwarenessDay/. Donations to support the Foundation are accepted at www.22q.org.