My son, Dawson, is the light of my life! He is an adorable, amazing, & incredibly happy 5 year old boy. He was diagnosed with Angelman Syndrome in 2014 when he was about 18 months old. We need a cure for AS so I can see my baby walk, speak, and live the kind of life that he deserves! Help us by donating to FAST (Foundation for Angelman Sydrome Therapeutics). Any amount you can give will help and is deeply appreciated. 💙
Angelman syndrome (AS) is a rare, neurogenetic disorder caused by a loss of function of the maternally inherited UBE3A gene on the 15th chromosome. UBE3A is an imprinted gene where only the maternal copy is expressed in neurons of the central nervous system. Imprinting of UBE3A is regulated by expression of the paternally expressed UBE3A antisense transcript (UBE3A-AS).Individuals with Angelman syndrome generally have developmental delay, balance issues, motor impairment and debilitating seizures. Some people with AS never walk. Most do not speak. Anxiety and disturbed sleep can be serious challenges among those with AS. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. Typical characteristics of AS are not usually evident at birth. People with the disorder have feeding difficulties as infants and noticeable delayed development around 6-12 months of age. They need intensive therapies to help develop functional skills. In most cases, Angelman syndrome isn't genetically inherited. AS affects all races and genders. It is often misdiagnosed as autism or cerebral palsy. There is an unmet clinical need for individuals with AS in the areas of motor functioning, communication, behavior and sleep. For more information about Angelman syndrome, please visit CureAngelman.org.