What is Angelman Syndrome?

Angelman Syndrome (AS) is the result of an abnormality of the 15th maternal chromosome. Individuals with AS have global developmental delay and cognitive disabilities. They rarely develop any speech but everyone benefits from learning to listen in new ways to what they have to say.

People with Angelman Syndrome usually have unique behaviors and generally happy personalities. Most individuals with AS will experience seizures. Many also experience sleep and feeding challenges. The majority learn to walk but usually have balance and movement disorders. A normal lifespan can be expected.

With strong supports, people with AS can thrive surrounded by friends and loved ones engaging in meaningful activities and sharing their unique perspectives.

Angelman Syndrome is frequently mis-diagnosed as autism or cerebral palsy.

ln a recent medical breakthrough, Dr. Edwin Weeber cured Angelman Syndrome in a laboratory mouse. Because AS affects one single gene it is much easier to understand than other neurological disorders like autism and Alzheimers' disease. Funding for research has more potential than ever as researchers grow closer to making a treatment available for humans. See how Carly and others are helping spread the word about the cure HERE.

 

Carly's Thanksgiving Story

 

Carly took her first steps when she was 3 1/2 years old. That came after years of stress and tears because her sensory issues were so severe that she wouldn't even tolerate being held in her parent's arms for feedings until she was 9 months old.

At 2 1/2 years old, Carly started having seizures and was diagnosed with Angelman Syndrome, a rare genetic disorder involving a deleted portion of her 15th maternal chromosome. Despite the fact that Carly faced a grim prognosis and had been experiencing significant developmental delays, a sleep disorder, feeding problems, and seizures, a miracle story of community and a child's potential was unfolding. For over three years, sixty volunteers surrounded Carly's family with help and prayer. That support set a foundation for amazing progress that continues bearing fruit in many ways yet today.

The heartwarming story of God’s love through a community during those early years of Carly’s life is told in the book Finding Glory in the Thorns and has been the inspiration behind the Christ-centered support groups using the Finding Glory in the Thorns: Group Discussion Guide. Read more about Finding Glory Resources.

Carly is now 14 years old. Her tolerance for touching things shows itself in the contagious affection, frequent hugs and exuberant smiles typical of someone with Angelman Syndrome. She’s a little "rascal" with a great sense of humor. Carly loves music, sitting beside her sisters at the piano, dancing, jumping, riding her adapted bike, swimming, and walking on the treadmill. The quality of her gait is remarkable considering her prognosis and she approximates words daily. She has twice walked over a mile in the annual Angelman Syndrome Foundation Walk-a-Thon with her mom, dad, two sisters, and many friends. That baby who would not be held now snuggles with precious bear hugs and even sometimes says, "I love you."

Carly is a gift!

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