CHICAGO – Rush University Medical Center and the Angelman Syndrome Foundation announced the official opening of the Angelman Syndrome Clinic at Rush University Children’s Hospital. The clinic is the first and only one of its kind in Illinois and one of only eight in the U.S.
“Rush is focused on serving the comprehensive medical needs of individuals with Angelman syndrome,” said Dr. Cesar Ochoa-Lubinoff, co-director of the Angelman Clinic at Rush. “With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation.”
“Individuals with Angelman syndrome have extreme challenges obtaining the care they need as they grow into adults,” said Dr. Elizabeth Berry-Kravis, co-director of the clinic. “Our hospital is uniquely positioned to provide services to this portion of the population and their families.”
The Angelman Syndrome Foundation is a national nonprofit organization headquartered in Aurora, Illinois.
“Our partnership with the ASF has allowed us to further meet these needs and provide the comprehensive medical services that improve patient and families’ quality of life,” Ochoa-Lubinoff said.
Clinic aims to reduce severity of symptoms
Occurring in one in 15,000 live births, Angelman syndrome is a neurogenetic disorder — often misdiagnosed as autism or cerebral palsy — that causes severe neurological impairment, appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning improperly and causing deficits in development.
Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability. Caregivers need to provide constant supervision and often experience pain, stress, anxiety and exhaustion.
The Angelman Syndrome Clinic at Rush is unique, as it can leverage the variety of expertise and specialized care available at Rush to help individuals with Angelman syndrome from infancy through adulthood.
The purpose of the clinic is to reduce the frequency and severity of Angelman syndrome symptoms that interfere with function, such as seizures, behavior and sleep problems. In addition, the clinic will work with families to develop educational recommendations to optimize educational programming for individuals with Angelman syndrome, thus helping these individuals achieve their full developmental potential.
Comprehensive care from multiple specialists
With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the clinic provides comprehensive access to neurologists, epileptologists, developmental-behavioral pediatricians, psychologists, a sleep medicine physician, a rehabilitation medicine specialist, a gastroenterologist, a pulmonologist, a speech language pathologist, a physical therapist, an occupational therapist, a genetic counselor, a social worker and a nutritionist, all specializing in Angelman syndrome.
As part of the commitment to improving the lives of patients and families living with Angelman syndrome, the medical team participates in the latest clinical research protocols and trials.
“Opening this clinic at Rush University Medical Center — in our own headquarter’s backyard — is an exciting milestone for ASF. Our mission is to provide help and support to individuals with Angelman syndrome and their families across the country, and this new clinic will bring the best, comprehensive medical care to so many in need,” said Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome. “We are thrilled to help bring this significant resource to the greater Chicago area, and we could not be more proud to partner with Rush University Medical Center and their remarkable team of professionals to bring this clinic to life.”
The Angelman Syndrome Clinic at Rush University Medical Center is located at 1725 W. Harrison St., Suite 710. Chicago. Appointments can be made by calling (312) 942-9645.
For more information about Angelman syndrome and the Angelman Syndrome Foundation, visit www.angelman.org.