Carly Jamieson 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 couldn’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 that community during those early years of Carly’s life is told in the book Finding Glory in the Thorns.
That story was also the inspiration behind Christ-centered support groups that utilize the Finding Glory Group Discussion Guide.
Click HERE to find the complete Finding Glory collection of books at Amazon.
Today, Carly’s tolerance for touching things shows itself in the contagious affection, frequent hugs and exuberant smiles that are much more typical of someone withBut Angelman Syndrome. She’s a little “rascal” with a great sense of humor. She loves music, dance parties, sitting beside her sisters at the piano, jumping, swimming, and helper her caregivers make pumpkin waffles. The quality of her gait is remarkable considering her prognosis and she sporadically uses a small handful of word approximations. She has twice walked over a mile in the Angelman Syndrome Foundation annual fundraiser walk 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!
We invite you to watch Carly’s Thanksgiving Story — an adventure tale that God is still unfolding.
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.
Angelman Syndrome is very frequently mis-diagnosed as autism or cerebral palsy.
With strong supports, people with AS can thrive surrounded by friends and loved ones engaging in meaningful activities and sharing their unique perspectives.
ln a 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.
Visit the Angelman Syndrome Foundation and the Foundation for Angelman Syndrome Therapeutics for more information.