About AS

What is Angelman Syndrome?

If you are like us, you probably never heard of Angelman Syndrome before meeting Maggie. Angelman Syndrome (AS) is a fairly rare genetic disorder thought to effect about one in 15,000 - 40,000 live births. (Estimates vary widely.) AS is not life-threatening, but it is a life-long condition.

Dr. Angelman first identified the clinical features of AS as a specific syndrome phenotype. Originally called "Happy Puppet Syndrome" the syndrome is now known by the name of the physician who dedicated his life to helping those with the syndrome. Most children, like Maggie, have an AS diagnosis confirmed through genetic testing that reveals a maternally derived deletion in chromosome 15.

Maggie's Happiness Is Contageous

Currently, Maggie's most evident symptom of AS is global developmental delay. Like most kids with AS, Maggie has unusual brain wave activity in her EEG, but her seizures are mostly under control. She has had myoclonic seizures and myoclonus. She is currently taking Keppra. Sleeping through the night is rare for Maggie, (most AS kids have sleeping disorders.) She will often wake up at about 3:30 AM and sometimes she is ready to party until the sun comes up.

Maggie explores the world by chewing on the objects around her, (with sharp little teeth, Dad's fingers are now off limits). Like many kids with AS, Maggie has a very sweet disposition, smiles and is very sociable. As devastating as the features of AS may sound, Maggie's happiness and joy are contageous. Maggie, like everyone with AS, is much more than the syndrome she has. She is a wonderful person and we love her.

Maggie's Diagnosis Story Learning that your child has AS is devastating. Some parents struggle for years to learn the nature of their child's disability. Maggie's diagnosis was a roller-coaster for us, but typical for many parents of a child with AS.	Facts about Angelman Syndrome The Angelman Syndrome Foundation website has lots of good information about AS. This link provides a concise introduction to the common features of this syndrome..
Medical Journal Articles We are building an on-line library of medical journal articles about AS. While many of these articles provide some medical insight into the syndrome, none of them capture the spirit of our kids.	Communication As a parent, the saddest feature of AS to accept is the fact that Maggie will never develop verbal communication. Still, there is a lot more to communication than speech.
Angelman Awareness Day In conjunction with the 2005 walk-a-thons, Erin worked with State Assembly Rep Barb Lifton and State Senator James Seward to have New York declare May 21st Angelman Syndrome Awareness Day..	AS links There is a great deal of useful information about AS, especially from other families and national organizations. See our links for more info.

International Union of Angelic Anarchists - Local 2

About AS

Information links

Other Sites of Interest

What is Angelman Syndrome?

Maggie's Happiness Is Contageous