Seizures: Patients with AS may experience different types of seizures, typically before the age of 3.
Developmental Delay: Patients with AS may present with initial symptoms like lack of crawling or lack of babbling.
Happy, excitable demeanor: Patients with AS are frequently laughing or smiling and easily excited.
Fascination with water: Patients with AS can have a unique fascination with water.
A diagnosis of Angelman syndrome is confirmed through genetic testing that identifies an abnormality that affects the UBE3A gene.
Currently there is no cure for Angelman syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for Angelman syndrome including possible gene therapies.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.
* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.