Category Archives: Angelman Syndrome Clinics

Angelman Syndrome Clinic Opens in Chicago, IL
22 Aug

Angelman Syndrome Clinic Opens in Chicago, IL

Rush University Medical Center Launches Angelman Syndrome Clinic

The First Comprehensive Clinic in Illinois Providing Support for Individuals with Angelman Syndrome

(CHICAGO) – Rush University Medical Center and the Angelman Syndrome Foundation (ASF), a national nonprofit organization headquartered in Aurora, Ill., announced the official opening of the Angelman Syndrome Clinic at Rush Children’s Hospital. The Angelman Syndrome Clinic at Rush is the first and only 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 Angelman Clinic at Rush. “Our hospital is uniquely positioned to provide services to this portion of the population and their families.”

“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,” said Ochoa-Lubinoff.

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, 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 the Medical Center 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.

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, and a sleep medicine physician, rehabilitation medicine specialist, gastroenterologist, pulmonologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker and 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 ASF, please visit www.angelman.org. For more information about Rush Children’s Hospital at Rush University Medical Center, please visit www.rush.edu.

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ABOUT THE ANGELMAN SYNDROME FOUNDATION
The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing treatments and a cure for Angelman syndrome. Since 1996, the ASF has funded 101 research grants totaling more than $9.5 million. The ASF has awarded a majority of these funds ($9.2 million) beginning in 2005. For more information about the ASF, visit www.angelman.org.

About Rush
Rush is an academic health system whose mission is to improve the health of the patients and the diverse communities it serves with nationally recognized health care, education, research and a commitment to community partnerships. The Rush system comprises Rush University Medical Center, Rush University, Rush-Copley Medical Center and Rush Oak Park Hospital, as well as numerous outpatient care facilities. Rush University, with more than 2,500 students, is a health sciences university that comprises Rush Medical College, the College of Nursing, the College of Health Sciences and the Graduate College.

22 Oct

Angelman Syndrome Clinics across the U.S.

ASF invests $1.5 million to support 17 Angelman Syndrome Clinics across the U.S.

Furthering its direct support of individuals with Angelman syndrome and their families, the Angelman Syndrome Foundation has committed $1.5 million to establish 17 comprehensive Angelman Syndrome Clinics across the country during the next few years. The ASF has strategically identified locations that are within a 4-hour driving distance for more than 85% of the AS population in the U.S.—meaning a majority of families (>85%) in the U.S. will not have to travel more than four hours to access their nearest clinic, which is a primary goal of the ASF’s in making the clinics as accessible as possible. Each clinic will receive a three-year funding commitment of $50,000 the first year, $30,000 the second year, and $10,000 the third year, to establish the clinics and support them until they are self-sustaining.

Currently, there are two Angelman Syndrome Clinics established in Chapel Hill, NC and Boston, MA. The ASF is in the final stages to open the next clinic in Rochester, MN and has requested proposals to establish the next clinics in San Diego and Houston, with Chicago to follow. In alphabetical order, future target cities include Atlanta, Cleveland, Dallas, Denver, Jacksonville, New York, Philadelphia, Salt Lake City, San Francisco, Seattle and St. Louis.

The purpose of the ASF’s Angelman Syndrome Clinics is to:

  • Provide a “one-stop-shop” medical and psychosocial resource from birth through adulthood for individuals with AS
  • Provide a foundation to support future clinical trials by having established sites with AS experts and patients in place to conduct those trials when they become available
  • Provide access to a variety of individuals all specializing in AS:  clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist

Learn more about the Angelman Syndrome Clinics and current locations.