Brain Diseases
Angelman Syndrome
Back to Brain DiseasesWhat is Angelman syndrome?
Angelman syndrome (AS) is a rare neurogenetic disorder affecting at least 1 in every 15,000 people, or 500,000 worldwide. AS is often first detected between 6 and 12 months of age, when an infant shows delays in maturing—for example not yet crawling or babbling. Individuals affected by AS experience delayed physical development, mental disability, problems with speech and balance, limited motor skills, and sometimes seizures.
1 out of 15,000
people have Angelman syndrome
6 to 12 months
the average age when developmental delays first become apparent
2 to 3 years
the average age for the onset of seizures
Angelman Syndrome Risk Factors
Angelman Syndrome Signs and Symptoms
Angelman Syndrome Diagnosis
Angelman Syndrome Treatments
Angelman Syndrome Research Efforts
Angelman Syndrome Resources
Mayo Clinic: Angelman Syndrome
FAST: The Foundation for Angelman Syndrome Therapeutics
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Discover the latest news in brain disease research, hear stories from people affected by brain disease and their caregivers, read up on brain disease-specific information, and more.
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Orlena
Orlena was driving with her young daughter in the car when she suffered a stroke because of a rare brain vessel disorder called Moyamoya. After two brain surgeries and six months unable to care for her daughter, Orlena began to reclaim her independence and became a Moyamoya advocate.
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ABF Stories
Orlena
Zoe
At 15 years old, Zoe has been navigating her Tourette syndrome diagnosis for eight years. “I had to figure out at a young age how my emotions affect my tics, from good to awful ways. It has been frustrating to figure out on my own and learn to deal with. This was the first moment in my life where my parents couldn’t fix something for me.”
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Zoe
Sasha
Sasha was diagnosed with epilepsy after sustaining a soccer-related brain injury in high school. Since then, Sasha has worked to find both a treatment that controlled her seizures and a career that fulfilled her desire to care for others. “Life isn’t meant to be lived taking multiple medications and having seizures you can’t control.”
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Sasha
Ken Jr.
Before frontotemporal lobe dementia, sometimes called Pick’s disease, Ken Keene Sr. was a respected community member and a handyman who could fix anything. For his oldest son and namesake Ken Keene Jr., there was nothing his father couldn’t do: “To my family, he was just that super dad. Then all of a sudden he’s reaching out for help.”
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Ken Jr.
Morgan
It started with a twinge. After a simple surgery and some physical therapy, Morgan wasn’t getting better. It took two more surgeries before she was diagnosed with Complex Regional Pain Syndrome (CRPS) type II.
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ABF STORIES
Morgan
Kelly
In 2018, Kelly was diagnosed with glioblastoma after an MRI confirmed that a golf-ball-sized tumor above her right ear was affecting the left side of her body. After surgery to remove the tumor, Kelly was able to get through her darkest days with a healthy dose of humor. Now she is an advocate for other patients living with strokes and brain tumors.
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Kelly
Nancy
When her father was diagnosed with vascular dementia in 2005, Nancy quickly shifted into the role of his caregiver. Nancy and her sisters drew from their individual strengths to provide their father with medical assistance and emotional support until his passing in 2012. At that time, he was diagnosed again with Lewy body dementia. “No matter what your financial situation, there’s probably going to be help out there… Just don’t do it alone, because burning yourself out is not going to help anybody.”
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ABF STORIES
Nancy
Maureen
Maureen worked as a high school English teacher until she started experiencing a confusing array of symptoms that affected her ability to work, along with her relationships with family and friends. After visiting numerous specialists for years, Maureen received a delayed diagnosis of Lewy body dementia. Now Maureen wants to raise awareness about what life is like with living with this disease. “I felt that I just wanted to offer something to this community that I hadn’t been able to find really.”
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Maureen
Joey
For the first 32 years of his life, Joey experienced seizures from epilepsy. For several years, Joey worked hard in his career as a pipe welder and in construction until his seizures started happening more frequently and intensely. Brain surgery became Joey’s only viable option for treatment. Doctors were unsure if Joey would be able to survive after finding more brain damage than expected, but he surprised everyone by thriving during his post-surgery recovery.
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ABF STORIES
Joey
Ben
At age 40, Ben was perfectly healthy and active until he started noticing the early symptoms of a neurological condition that weakened his physical movements. After a 2-year search for his diagnosis of X-linked adrenoleukodystrophy, he began his journey as an advocate for others living with rare diseases. Last year, Ben joined the board of the American Brain Foundation to further his impact.
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Ben
Michele
In 2002, while her young daughter battled a fatal diagnosis of pons glioma, Michele experienced a life-threatening brain hemorrhage when a brain malformation she likely had since birth ruptured. She experienced drastic changes in the way her brain functioned, especially in regard to memory and spatial awareness. Today, Michele is still learning to adjust. “When someone’s brain is not functioning correctly it impacts everything in their life. It impacts how they think, how they feel about themselves, it’s a very hopeless space to be in as a person.”
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Michele
Matt
Matt is a husband, father, and professional photographer. Over the past 11 years, he has had surgeries and radiation to remove five benign brain tumors. Following the third surgery, he began to experience more struggles in his daily life. “I think the biggest loss is my relationship to my family. They saw me as the dad and strong. Now they can’t count on me as much. It’s important to support people with brain disease ‘cause it can happen to anybody.’”
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Matt
Mary Jo
When she was in her early 30’s, Mary Jo’s relationship with her parents was forever altered by brain disease. Her father suffered a subdural hematoma, was diagnosed with diabetic neuropathy, and experienced a stroke while her mother was diagnosed with Alzheimer’s and dementia. “They’re a responsibility that I have to take care of as they have taken care of me.”
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Mary Jo
Tom
Tom suffers from dystonia, a painful neurological movement disorder with no known cure. When he first started experiencing strange pains and cramps in his neck muscles, he saw chiropractors and physical therapists—but when this didn’t help, Tom started down a long and painful road to an eventual diagnosis. Before his diagnosis at 30 years old, Tom was an athlete and an entrepreneur, but as his symptoms worsened, even performing everyday tasks became a challenge. Before long, the pain became debilitating. Over time, Tom learned to accept his new limitations and focus on his physical and mental health.
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