Philadelphia, PA – The “22q and You” Center at The Children’s Hospital of Philadelphia
The “22q and You Center” at the Children’s Hospital of Philadelphia (CHOP) is the world’s first and largest specialized multidisciplinary clinic dedicated to helping patients and families affected by chromosome 22q11.2 deletion and duplication syndromes. Our highly trained health care professionals, representing >20 medical and surgical subspecialties, provide expert collaborative and individualized services based on broad experience having evaluated and treated >1800 individuals over three decades, many of whom have traveled to CHOP from around the globe for experienced coordinated surgical, medical, and behavioral health care, genetic counseling, speech and language assessments/services, educational evaluations/resources, imaging, and psychosocial support. In addition, CHOP is a world leader in clinical and basic science research for patients with 22q11.2 deletion and duplication syndromes – striving to make impactful breakthroughs each and every day.
The Center currently serves patients from birth through early adulthood and has begun partnering with providers at their neighboring institution, The Hospital of the University of Pennsylvania, to establish an adult 22q clinic, which has begun facilitating a smooth transition to adult care for patients and families.
The Center is based in the Division of Human Genetics and is facilitated by a director, medical director, scientific director, program manager, clinical coordinator, schedulers, and social worker. Core experienced providers, who have become experts in their own right and generally evaluate and provide treatment for most patients include: Allergy, Cardiology, CT Surgery, Developmental Pediatrics, Endocrinology, ENT, Gastroenterology, Genetics, Genetic Counseling, Immunology, Neurology, Neuropsychology, Ophthalmology, Orthopaedics, Plastic Surgery, Psychiatry, Speech Pathology. Additional providers who evaluate and treat a subset of patients include: Audiology, Dental, the Feeding Team, General Pediatrics, General Surgery, Hematology, Internal Medicine, Nephrology, Pulmonary, OB/Gyn, Occupational Therapy, Oncology, Physical Therapy, Rheumatology, and Urology.
Based on individualized needs, patients may be evaluated by as many as 20 subspecialists across the hospital with specific expertise in this diagnosis. Appointments are coordinated by the center staff who strive to assure that no appointments or procedures are duplicated unnecessarily.
While half of the Center’s patients reside within 100 miles of CHOP, the clinic serves the national and international community as well, with families traveling to the 22q and You Center from across the United States, Canada, and beyond, including for example: Australia, Brazil, Bermuda, Democratic Republic of the Congo, Dominican Republic, Ecuador, England, France, Germany, Greece, Ireland, India, Israel, Italy, Jamaica, Japan, Latvia, Nigeria, Saudi Arabia, Ukraine, and Uruguay. For families traveling from a distance, the Center partners with each family to obtain outside medical records, perform a detailed intake over the phone to review the child’s medical and family history, navigate the complexities of out of state insurance coverage, schedule all recommended appointments over the course of as little time as possible, and assist the family in arranging transportation and lodging.
For patients new to the clinic, a visit to the 22q and You Center begins with an appointment in the 22q and You Center. The patient and family meet with the Center Director, Donna McDonald-McGinn, MS, LCGC and Center Medical Director, Elaine Zackai, MD. During this initial visit, a complete medical history and family history are reviewed, a physical exam is completed, and recommendations for other specialist appointments are made. Routine laboratory studies may be performed as indicated. The dedicated team of coordinators assists each family in the complex scheduling of these appointments, alleviating some of the burden of care coordination.
In addition to medical care, the Center strives to provide families with psychosocial support, as well as, educational resources including publications they have developed/participated in developing such as: 22q11.2 specific Growth Curves, Pediatric and Adult Healthcare Guidelines, Faces of Sunshine (a highly acclaimed handbook for families and providers), a family-centered periodic newsletter, and the Nature Reviews Primer. Moreover, the Center prides itself on being “all in” in developing and hosting multiple rhyming events at CHOP/collaboration with the International 22q11.2 Foundation, including the annual “22q and Boo” Halloween-themed party and educational conference; 22k for 22q, 2.2 for 22q, and 22q at the Zoo –Worldwide Awareness Day!
Finally, the Director of the 22q and You Center at CHOP, Donna McDonald-McGinn, MS, LCGC, is a proud founding board member of the International 22q11.2 Foundation, Inc. and the corollary professional organization, the 22q11.2 Society, where she leads amongst many other things, a biennial international 22q11.2 educational conference. Prof. McDonald-McGinn can be reached at email@example.com
22q and You Center
Director: Donna McDonald-McGinn, MS, LCGC
Medical Director: Elaine H. Zackai, MD
Scientific Director: Beverly S. Emanuel, PhD
Main Contact: Alice Bailey
Phone: (215) 590-2920
Address: 34th St. and Civic Center Blvd. – Philadelphia, PA 19104-4399
Lewisburg, PA – 22q Developmental Clinic at Geisinger’s Autism & Developmental Medicine Institute (ADM)
Associate Director & Clinical Investigator: Brenda Finucane, MS
Contact: Barbara Haas Givier
120 Hamm Dr., Lewisburg, PA 17837
Phone: (570) 522-6287