Angelman Syndrome (AS)

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

Because of its genetic relationship to autism and other disorders, many researchers believe that curing Angelman syndrome will lead to cures for similar disorders. Angelman syndrome research is on the cusp of potential treatments to reverse the debilitating symptoms of Angelman syndrome.

Proper diagnosis is key to providing the best treatment to individuals with neurogenetic disorders – disorders that share similar symptoms including developmental delays, seizures, motor issues, and lack of cooing, babbling, or speech.

50% of individuals with Angelman syndrome are originally misdiagnosed. Follow this link to watch a video and learn more: Angelman What-is-as Diagnosis/


For more information, click on the links below:

Angelman Syndrome Foundation Timeline on Facebook

If you or someone you know has Angelman Syndrome or any other RARE disease, go to Global Genes for patient and caregiver resources and information.

Here is a personal story about people affected by this disease:

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written by Daisy Eddins:

As an adapted physical educator, I focus on lifetime recreational skills like bicycling. A physical activity that students can participate in with family & friends for a lifetime. Sean and I have been working on his tricycle and bicycling skills since age 4 and this year he has achieved riding a two wheel bike independently!! I am proud of him!

I was doing a special class focus on each student riding 50 yards or 50 feet each day (depending on their skill levels) to show our support for my friend Diane Lea who is set to perform the 50 causes ride (50 Causes Ride Website The first week that we were riding everyday (we usually only ride twice a week), I think it was a Wednesday, I ask Sean which bike he would like to ride he went to the two wheel “Townie bike” that I have been working with him and usually he practices just pushing bike with his feet (not using the pedals) then after he warms up I go over and help balance him and encourage him to pedal while I help steer and balance him. Well on this particular day he gave himself two pushes and put his feet on the pedals and started pedaling himself!! We were all thrilled!!

My friend Diane came to school and was a guest speaker and we got to go ride outside with her. We had a fine day!!


written by Crazy Psyclist Chick, with help from Christine with a UPS:

If you can dream it, you can do it.” Walt Disney

Often friction serves as the best source of creativity and drive. We each have our own level of adversity and challenges which open a way for us to reach a higher level of being, and just when you think your challenges are “something” you meet a kid like Sean. In the beginning he may have been inspired by me, but when I got to know him … I was the one inspired! I was overcome by the enthusiasm and dedication he exuded in the face of Angelman Syndrome. I guess a brief description of the syndrome is in order.

Angelman Syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

Sean is not able to speak and finds motor skills challenging, but when his Adaptive PE Teacher, Daisy Eddins, also a longtime friend of mine, told Sean and his class about me and my 50 Causes Ride they grew very excited. It enflamed their desire to accomplish something just as big, turns out (in my eyes) even bigger! Daisy got the kids who were able to ride on their adaptive bikes, some with 4 wheels, 3 wheels, and 2, up to 50 yards, 3 times a week, in preparation for our 50 Causes Ride. They accepted the challenge with a fire which brought tears to my eyes.

Sean was so taken in by this adventure that he ended up switching from his normal 3 wheeler to a 2 wheeler, and for the first time in his life rode independently on a 2-wheeler! I got to meet him shortly after his accomplishment and he was so elated! He was giggling and laughing, his soul was soaring and he kept touching my arm. He did more than touch my arm, he touched my core. His accomplishment of 50 feet will be with me on my 50 miles a day for 50 days for 50 causes. Each time I find myself tired I will think of what Sean accomplished in the grips of Angelman Syndrome! And, as I ride from San Diego to Pensacola I will know that Sean and his class will be tracking me in a geographical lesson prepared by Daisy. We will do this ride together, spurred on by our dreams.