Angelman syndrome is a rare neuro-genetic disorder occurring in one in 15,000 births or 500,000 people worldwide resulting from a loss of function of the UBE3A gene on the 15th chromosome. AS is often misdiagnosed for autism, cerebral palsy, or Prader-Willi syndrome due to similar presentation and symptomology. Several characteristics of AS include developmental delays, speech impairment, recurrent epilepsy, severe sleep disturbances, gastrointestinal issues, and problems with balance and movement. Despite all these symptoms, most individuals with AS have a bright, happy, and smiling demeanor.
One of the most important things I want to convey to my friends and family is each child with AS is different! Some of my personal challenges include sleep disturbances, ataxia, gross and fine motor delays, and lack of expressive speech. Other symptoms may arise of evolve over time, but for now I am going to keep on keeping on...
There is an incredible amount of research and clinical trials studying gene and protein replacement therapy and paternal gene activation therapy to treat symptoms and possibly cure Angelman syndrome. Please see below for more information on progress and news related to Angelman syndrome research!
