Fun Event Helps to Raise Awareness about 22q Syndromes
On May 21, 2017, researchers from Einstein and Montefiore took part in 22q@ Zoo, joined by 20 families whose children are affected by 22q11.2 syndrome (also known as 22q, velo-cardio-facial syndrome or DiGeorge syndrome). The Einstein-Montefiore event, held at the Bronx Zoo, was part of the International 22q11.2 Foundation’s Worldwide Awareness Day, which sought to bring together families affected by 22q11.2 deletion syndrome and promote public awareness.
Participants in the 22q@the Zoo Day enjoyed a visit to the Bronx Zoo
The 22q11.2 deletion syndrome is one of the most common genetic conditions, with an estimated frequency of 1 in 4,000. It is caused by the loss of a small portion of DNA in the 22nd chromosome, and individuals with the disorder can experience a variety of symptoms, including behavioral problems, intellectual disability, heart abnormalities, cleft palate and immune system dysfunction.
“It was our first year participating in 22q@Zoo,” said one parent. “It’s a great way to open up the topic of 22q to my other children in a real way. Our daughter who is affected by 22q knows she's different, but this made her ‘difference’ more ‘normalized,’ since there were so many other children like her there. Seeing a large group of families all affected by 22q made us all feel less alone in this journey.”
“The event offered a great opportunity for trainees in my lab to meet affected families,” added Dr. Bernice Morrow, a professor of genetics, of obstetrics & gynecology and women’s health and of pediatrics at Einstein, whose research focuses on aspects of 22q. “It allowed them to interact with families affected by the syndrome, which doesn’t really happen in the laboratory setting. Patients are major motivators for our research.”
Dr. Morrow teamed with Erica Kessler, a research nurse at Einstein, to coordinate the event in conjunction with professionals from Einstein, Children’s Hospital at Montefiore (CHAM) and Montefiore’s Children’s Evaluation and Rehabilitation Center. Event sponsors included the charity Harboring Hearts, several Einstein laboratories, the Einstein Buddies community based service learning project, and CHAM.
Editor’s Note: On September 14, Montefiore celebrated the opening of a multidisciplinary clinic, supported by Einstein research, for children 22q11.2 Deletion Syndrome, located at the Hutchinson Metro Center
Posted on: Thursday, June 14, 2018