Rady Children’s Approach to CHARGE Syndrome
At Rady Children’s Hospital, we take pride in providing the best pediatric care for CHARGE syndrome diagnosis and management. Our program for CHARGE patients is distinctive due to our expert multidisciplinary team approach, ensuring that each child receives comprehensive and coordinated care tailored to their unique needs. Medical professionals from our program services include Otolaryngology (Ear, Nose & Throat), Audiology, Plastic Surgery, Nephrology, Urology, Genetics, and our Heart Institute.
With the opening of a dedicated CHARGE center in San Diego, California, we recognize the critical importance of accessibility for families on the West Coast. Our goal is to bridge this gap by providing CHARGE families with the exceptional, synchronized care their child needs. A coordinated team evaluation is conducted to assess each child’s individual needs and produce an ongoing care plan to help CHARGE patients based on input from all disciplines.
What Is CHARGE Syndrome?
CHARGE Syndrome (CS) is a complex genetic syndrome with a known pattern of birth defects. Babies with CS often spend months in the hospital after birth and undergo numerous surgeries and other treatments. They often have swallowing, breathing problems, hearing loss, vision loss, and balance impairment which can cause communication delays, because of birth defects. Despite these obstacles, children with CS that receive appropriate comprehensive care, often surpass medical, physical, educational, and social expectations.
CHARGE syndrome refers to a specific set of birth defects, medical problems, and developmental issues. The acronym CHARGE features its defining characteristics including: Colobomas (anomalies in the eye’s structure), Heart defects, Atresia of the nasal choanae, Restrictions in development, Genitourinary abnormalities, and Ear and hearing anomalies.
Diagnosis for birth defects should be made by a medical geneticist and is based on key features and genetic testing (ideally with DNA testing for CHD7 mutations).
Key features:
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- Coloboma
- Cranial nerve abnormalities
- Choanal atresia
- Heart defects
- Characteristic external ears
- Esophageal defects
- Small/absent semicircular canals
- Genitourinary abnormalities
- CHD7 gene mutations
The incidence of children with CHARGE syndrome occurs in one in every 8,000-10,000 births.
Characteristics of CHARGE Syndrome
Every person with CHARGE has a unique set of features including ear anomalies and heart defects. There is wide variation in physical features and cognitive ability.
Cause: Mutations in the CHD7 gene on chromosome 8 are found in 80-90% of cases. When it comes to mutations, there are no relationship to sex, race, nationality, religion, socio-economic status, or prenatal exposure.
Recurrence: It does not usually run in families. Recurrence risk to unaffected parents is 1-2%. If a parent has CHARGE Syndrome, the risk to a baby is 50/50.
Sensory deficits: Most individuals with CHARGE have difficulty with hearing, vision, and balance. This results in delayed motor development and communication.
Cognitive ability & testing: Many have decreased cognitive abilities, but 30-50% have normal intelligence. Intelligence of children with CHARGE is often underestimated due to the effects of combined hearing, vision and balance issues. Testing, therapies, and educational intervention MUST take into account hearing, vision, and balance status.
Lifespan: Although individuals with CHARGE remain medically fragile, their lifespan can be normal.
Outcome: Individuals with CHARGE need medical care appropriate to their particular features. They also benefit tremendously from thorough and coordinated medical care. In addition, early intervention and appropriate and challenging educational and vocational programs specific to their sensory needs are imperative. Even though CHARGE Syndrome might sound tough, these kids can be very happy and healthy.
What Causes CHARGE Syndrome?
CS is predominantly a genetic condition caused by changes or variants in at least one gene. While not all pediatric patients with CHARGE Syndrome such as children with ear anomalies and heart defects exhibit genetic changes, most cases involve new mutations occurring in the affected individual. The CHD7 gene is frequently affected, with approximately two-thirds of individuals showing a misspelling or variant. This gene, essential for development, undergoes alterations that affect the body’s processes. Genetic testing, available at Rady Children’s Hospital through our Genomics Institute plays a vital role in confirming the diagnosis and guiding personalized care.
How Is CHARGE Syndrome Diagnosed?
Diagnosing CHARGE syndrome is challenging due to its diverse symptoms. A comprehensive evaluation by a coordinated team of specialists, including medical geneticists familiar with CHARGE, is crucial. Genetic tests, especially for CHD7 mutations, are conducted, and other assessments are performed as needed to ensure an accurate diagnosis and effective management plan.
The CHARGE Center Team
At Rady Children’s Hospital, we emphasize a multidisciplinary approach as well as early treatment, focusing on medical interventions and therapies for infants and toddlers with critical health issues. As stability is achieved, attention shifts to hearing, vision, and developmental support for effective communication.
Our CHARGE team includes clinicians, therapists, counselors and family advisers whose goal is to provide complete and coordinated care to CHARGE Syndrome patients and their families so that these children can reach their full potential. See below for more information about our team of outstanding specialists.
Director | Daniela S. Carvalho, M.D., M.M.M., is a pediatric otolaryngologist with expertise in pediatric otology (ear surgery). She is currently the Department of Surgery Chair, Medical Director of Surgical Services, and the Director of the Hearing Program at Rady Children’s Hospital. She is also a Clinical Professor of Surgery at UC San Diego School of Medicine. s. She was the president of SENTAC, the Society for Ear, Nose, and Throat Advancement in Children, which is the oldest multidisciplinary pediatric ENT society in the world. She has worked with a multitude of CHARGE children at Rady Children’s and is thrilled to launch the CHARGE program at the hospital. She truly believes that Rady Children’s is innovative in leading the way in this new type of precision medicine. She is passionate about having the Center act as a blueprint for other genetic conditions and syndromes, reaching a large population of medically complex children in San Diego and throughout the West Coast.
Care Coordinator | Tanika Parnell, NP, is a Nurse Practitioner that will be acting as the Center’s Care Coordinator and the primary contact for families with children that are part of the Center. Tanika graduated from VCU with a Nursing degree and completed an M.S. in Nursing at Maryville University. She spent 11 years as a nurse in the Emergency Department and Pediatric Intensive Care Unit at Rady Children’s Hospital in San Diego. Since 2019, she has been a Pediatric Nurse Practitioner in both Primary Care and the Emergency Department. From a young age, Tanika wanted to make a difference in people’s lives, specifically for kids in the medical setting. Most recently, her interest has turned to cochlear implants, in part as a result of her middle child needing one herself. Tanika is a proud wife and mom of three active kids, the middle of whom, Kyla, was just fitted for her first cochlear implant this past April. She knows first-hand how it can improve the quality of life for a child who struggles with hearing and is very excited to help other families who have children with different medical needs. When she expressed interest in actively participating on the medical side with the hard-of-hearing community at Rady Children’s, she was encouraged to consider the role of Clinic Coordinator and will now be directly working with CHARGE kids and their families to provide essential medical care. In her personal life, Tanika loves the outdoors and spends as much time with her kids as possible.
Otolaryngology | Matthew Brigger, M.D., M.P.H., is a medical professional and is chief of the Division of Otolaryngology at Rady Children’s Hospital-San Diego and a professor of surgery at UC San Diego School of Medicine. His primary clinical interests are problems/diseases of the upper aerodigestive tract, with a focus on surgical management of child patients with breathing and swallowing disorders. He helps care for patients with ear, nose, throat, neck and airway disorders. and conditions. A strong proponent of providing care and treatment for children with health problems, disorders, and conditions based on the best available research, he was named a 2015 Cochrane Scholar of the American Academy of Otolaryngology – Head and Neck Surgery for his commitment to evidence-based medicine.
Pulmonology | Aparna Rao, M.D., is a board-certified pediatric pulmonologist at Rady Children’s Hospital-San Diego and an associate clinical professor at UC San Diego School of Medicine. She works in Rady Children’s Cardiology and Pulmonary divisions. Dr. Rao treats patients with various lung conditions. Her clinical and research interests are in caring for children who have congenital heart disease with pulmonary and airway pathologies. After earning her medical degree at Grant Medical College, Bombay, India, she completed her pediatric residency at University of Illinois at Chicago. Subsequently, she completed a fellowship in pediatric pulmonology at Children’s Hospital of Wisconsin. Prior to coming to Rady Children’s in 2017, she worked at the Medical College of Wisconsin from 2005 to 2011, then Phoenix Children’s Hospital.
Genetics | Lynne Bird, M.D., is a dysmorphologist and clinical geneticist at Rady Children’s, and a professor of clinical pediatrics at UC San Diego. She is medical director of Rady Children’s multidisciplinary Prader-Willi Syndrome Clinic and co-founder of Rady Children’s Down Syndrome Center. In her practice, she evaluates children with birth defects or those who are suspected of having a genetic problem or syndrome. Graduating summa cum laude from Bucknell University, Dr. Bird went on to attend the Duke University of School of Medicine. Upon completing a pediatric residency and genetics fellowship at UC San Diego and Rady Children’s Hospital-San Diego, she joined the UC San Diego faculty. Dr. Bird was elected to the Academy of Clinician Scholars at UC San Diego in 2010. Among her research interests is Angelman syndrome, and she is the principal investigator in San Diego of a multi-site consortium that conducts a natural history study and clinical trials. She also oversees clinical trials for Prader-Willi Syndrome. Other research interests include the use of facial recognition software to assist in the diagnosis of syndromes. Her philosophy of care is to empower families to make the best choices for their children. When not working, Dr. Bird enjoys hiking, social dancing (tango and ballroom) and cooking.
Gastroenterology | Soma Kumar, M.D., is a pediatric gastroenterologist at Rady Children’s Hospital-San Diego and an associate physician at UC San Diego School of Medicine. She is board certified in pediatrics as well as pediatric gastroenterology. After graduating from medical school at the Medical College of Wisconsin, Dr. Kumar completed her internship and residency at Nationwide Children’s Hospital in Columbus, Ohio, where she was trained in treating a wide variety of gastrointestinal diseases. During her residency, she received awards for her teaching abilities. Dr. Kumar has a special interest in pancreas disorders in children and has served on a multinational consortium aimed at researching recurrent acute and chronic pancreatitis. She is also an active member on the Pancreas Committee of a national pediatric gastroenterological society that is developing guidelines for the management of acute pancreatitis in children. She received an honorable mention for her research at a national conference and earned a travel award to attend a national conference on pancreatic disease.
Ophthalmology | Lauren Hennein, M.D., is an ophthalmologist at Rady Children’s Hospital and at the University of California San Diego. Dr. Hennein completed her medical degree with distinction from the University of California San Francisco School of Medicine. She completed her internship at Scripps Mercy Hospital and her ophthalmology residency at the University of California San Francisco. Dr. Hennein completed a fellowship in pediatric ophthalmology and adult strabismus at Boston Children’s Hospital; Harvard Medical School. Dr. Hennein is a member of the Phi Beta Kappa Honor Society and Alpha Omega Alpha Honor Medical Society. She was selected as a Heed Fellow. She received the UCSF Garcia Asbury Award for Best Clinical Research and was elected to the UCSF Muriel Steele Society Influential Women in Surgery Honor Roll. Dr. Hennein is passionate about serving the underserved and founded the UCSF Ophthalmology Homeless Shelter Clinic. Dr. Hennein specializes in comprehensive pediatric ophthalmology including pediatric cataracts and strabismus. She also specializes in adult strabismus.
Cardiology | Paul Grossfeld, M.D., is a board-certified pediatric cardiologist at Rady Children’s Hospital-San Diego and a professor of pediatrics at UC San Diego School of Medicine. He treats both pediatric and adult patients with congenital heart disease. After earning his medical degree at the University of Texas Southwestern School of Medicine in 1992, he went on to complete his pediatrics residency training in 1995 at UC San Diego, followed by a pediatric cardiology fellowship at UC San Diego in 1999. Dr. Grossfeld has a particular interest in treating patients with rare genetic syndromes, including Jacobsen syndrome, Marfan syndrome and Williams syndrome. He serves as the chief medical advisor for the 11q Research and Resource Group as well as the European Chromosome 11 support group. He also directs a basic science research laboratory at UC San Diego dedicated to studying genetic causes of congenital heart disease, with a specific focus on hypoplastic left heart syndrome. Dr. Grossfeld has nearly 70 peer-reviewed publications. Along with his clinical and research responsibilities, Dr. Grossfeld served for 12 years as the director of the UC San Diego/Rady Children’s Pediatric Cardiology Fellowship Program and continues to be actively engaged in teaching and mentoring fellows, residents, medical, undergraduate and high school students. He also serves as a volunteer cardiologist for the United States Men’s’ and Women’s’ Olympic Volleyball teams. Among his professional activities, he and his wife, Susan, have led annual cardiac missions to the Angkor Hospital for Children in Siem Reap, Cambodia. When not working, Dr. Grossfeld enjoys spending time with his wife and son, traveling, working out, playing tennis and golf, and swimming in La Jolla cove.
General Surgery | Timothy Fairbanks, M.D,
Audiology| Julie Purdy, Ph.D., CCC-A, has been a part of the Diagnostic Audiology team since 2007 and became the manager of audiology in 2014. She earned her doctorate in philosophy at the University of Utah in 1990, specializing in multicultural audiology and aging. Julie received her Master of Science in 1985 and her Bachelor of Arts in 1983, both in communication disorders from Brigham Young University in Provo, Utah. She holds a certificate of clinical competence from the American Speech-Language-Hearing Association, is a fellow of the American Academy of Audiology and is licensed by the state of California. She primarily works at our Main Campus location.
Children’s Dental Center at Rady Children’s Hospital
Our dedicated Dental Center at Rady Children’s Hospital provides a multidisciplinary approach and comprehensive care to oral and dental issues that children face with CHARGE syndrome.
Children’s Dental Center at Rady Children’s Hospital (RCHSD)
8110 Birmingham Way (Bldg 28) , San Diego, CA 92123
Rady Children’s Institute for Genomic Medicine: Advancing Genomic Insights for CHARGE Syndrome
In an effort to unravel the complexities of CHARGE syndrome (CS), Rady Children’s Institute for Genomic Medicine plays a pivotal role in advancing genomic insights and personalized care. Situated within Rady Children’s Hospital-San Diego, the institute’s groundbreaking work extends beyond conventional diagnostics. With a focus on resolving the diagnostic odyssey for rare diseases, including CHARGE syndrome, the institute pioneers the use of rapid Whole Genome Sequencing™ (rWGS®) to identify genetic changes, such as those in the CHD7 gene, associated with CS. By seamlessly integrating cutting-edge genomics into the diagnostic process, the institute not only aids in confirming CS diagnoses but also contributes to ongoing research, laying the groundwork for transformative changes in pediatric healthcare. Through collaboration, education, and advocacy, Rady Children’s Institute for Genomic Medicine remains dedicated to shaping a future where genomic insights lead to improved outcomes for children with CHARGE syndrome and other rare genetic conditions.
Making an Appointment
Resources for travel and housing expenses will be discussed and explored during your initial intake with the CHARGE center coordinator.
We want it to be easy for you to get the care you or your child needs. Simply contact us at
(858) 576-1700, Extension 221699 or at chargecenter@rchsd.org to make an appointment. We also accept referrals from pediatricians, neonatologists, emergency room physicians, and other providers.
Before Your First Visit
Once a referral is made, our care coordinator will contact you to discuss your child’s previous care and arrange to have medical records sent to us. After reviewing this information, the care coordinator will contact you to schedule your child’s assessment.
Please be aware that it may be several months between your first contact with us and your child’s first appointment. During this time, we gather all the necessary information, and our specialists review your child’s case to determine the best plan of action.
What to Expect at Your First Visit to the CHARGE Center
The CHARGE Center is not a physical office in our building, but rather a virtual center that exists to make your life easier. Our care coordinator works with a wide variety of clinicians for a multidisciplinary approach to caring for your child. Each of these specialists treats different aspects of your child’s health. They work together to ensure your child receives the care they need.
When your child is diagnosed with CHARGE syndrome, it can be overwhelming to think about all the different aspects of their care. Our goal is to manage your schedule so your family has an easier transition from appointment to appointment.
If you are coming from far away, are looking to transition care, or are newly diagnosed; it is likely that you will have many visits over the course of a few days. Your child may have multiple appointments each day during your visit. In these instances, we’ll give you the itinerary in advance so you’ll know where to arrive for your first appointment on the first day.
At the appointments with our specialists
Our team takes great care in planning out your child’s visit to minimize stress. Our providers will share their thoughts as you move from specialist to specialist, and we’ll make sure you know exactly where you’re going next.
Assessments can sometimes take three to four days, usually Monday through Thursday. This busy time will include outpatient visits with multiple specialists in their offices, as well as time in the operating room when necessary. These procedures will help us learn specifics about your child’s condition. The specialists from all areas caring for your child will meet to discuss what they learn throughout the week and determine the best possible intervention for your child. We’ll discuss the treatment plan with you during your visit.
After Your Visit
You will receive an “After Visit Summary” at the end of every appointment with each provider. The summaries will include important details about your child’s test results, referrals to specialists, and medications (including new prescriptions). It also will include contact information for each person who has seen your child during the visit.
Our care coordinator will discuss all recommendations for your child’s ongoing care with you. As the child’s parent, you’re an important part of the care team, and you’ll be able to make decisions about the next steps. If you live outside of San Diego, some or all of your child’s needs may be met by providers in your hometown. Or you may choose to return to Rady Children’s CHARGE Center for your child’s interventions and follow-up care.
Current Patients
If you are already a patient at Rady Children’s Hospital, our care coordinator will work with you and your family to determine which visits are needed for your child soon and help you schedule those with our specialists.
Contact
PHONE: (858) 576-1700 Extension 221699
EMAIL: chargecenter@rchsd.org
The Rady Children’s CHARGE Center Care Coordinator will be making appointments for patients to be seen by specialists located throughout the Rady Children’s Hospital system. Here is a list of departments (organized alphabetically) showing where each department is located. CHARGE patients will be asked to visit departments that are identified in their comprehensive care plans.
Audiology
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 400
Cardiology
Rady Children’s Hospital Main Campus, Rose Pavilion
3020 Children’s Way, San Diego, CA 92123
1st Floor South
Developmental Evaluation Clinic
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 400
Endocrinology
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
4th Floor, North
Feeding Team
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 300
Gastroenterology, Hepatology & Nutrition
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
2nd Floor, South
Occupational Therapy
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 300
Ophthalmology
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
Urgent Clinic, 1st Floor South
Orthopedics and Scoliosis
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
3rd Floor
Otolaryngology
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
1st Floor, North
Pediatric Surgery
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
1st Floor, South
Physical Therapy (including 360 Sports Medicine)
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 300
Pulmonary/Respiratory
Rady Children’s Hospital Main Campus, Medical Office Building
3030 Children’s Way, San Diego, CA 92123
2nd Floor, North
Radiology
Rady Children’s Hospital Main Campus, Rose Pavilion
3020 Children’s Way, San Diego, CA 92123
3rd Floor
Speech-Language Pathology
Rady Children’s Health Services
3665 Kearny Villa Rd., San Diego, CA 92123
Suite 300