|In the next two months, Children's Healthcare of Atlanta and Emory University School of Medicine will collaborate to officially open a new clinic for 22q11 deletion syndrome (DS) patients: The Southeastern Regional Center of Excellence for 22q. The 22q11 deletion syndrome (22q11DS) is a common genetic condition caused by a partial deletion of chromosome 22, currently estimated to occur in 1 out of every 4,000 live births.
"Complications from this deletion can lead to a variety of clinical problems including congenital heart defects, hypocalcaemia, immunologic deficiency or dysfunction, cleft palate, hypernasal speech and/or swallowing difficulties, and learning disabilities and psychological disturbances," said John Riski, PhD, director of the Speech Pathology Laboratory at the Children's Center for Craniofacial Disorders. "With the opening of this clinic, patients across the Southeast will have the advantage and convenience of seeing specialists in cardiology, immunology, clinical genetics, endocrinology, craniofacial surgery, speech/language pathology, and psychiatry--all in a single visit."
The new clinic has the support of the Southeast 22q Support Group, a local parent support group that strives to bring awareness of 22q deletion to parents, educators, healthcare providers, and government branches with current and correct information. Additionally, the group works to motivate an interest in medical research, birth screenings, and to offer educational and treatment opportunities for individuals and families of 22q deletion.
"After receiving a 22q11 diagnosis, the number of doctors and specialists to see is overwhelming," said Cheri Coyle, the mother of a child with 22q and active member of the Southeast 22q Support Group. "Fortunately, the new Southeastern Regional Center of Excellence for 22q will streamline the process of clinical visits for patient families by turning multiple office visits at different locations (to see different specialists), into one single office visit."
The mission of the center is to provide patients with the best possible care, to provide comprehensive education to families and providers and to conduct cutting edge research to advance diagnosis and treatment for this disorder. Clinical services for cardiology, endocrinology, immunology, gastroenterology, otolaryngology, dentistry, genetics and psychiatry will be offered at the Emory Children's Center (ECC) at 2015 Uppergate Drive. Service for genetics, craniofacial surgery, speech and swallowing disorders will be provided at the Children's Center for Craniofacial Disorders at 5455 Meridian Mark Road, NE, Medical Office Building (MOB), Suite 200, with additional support from Emory Genetics at 2165 N. Decatur Road. For more information visit www.route22q.org.
Physicians and clinical staff from the Southeastern Regional Center of Excellence for 22q, as well as parents from the Southeast 22q Support Group, are available for interview. Photos are posted on the web site.