When Harper Webb was just six weeks old, her mother Johnna grew concerned about the girl’s health—call it mother’s intuition. Harper struggled with sleeping and feeding. Johnna began taking Harper to doctor’s appointment after doctor’s appointment. Eventually, when Harper was 11 months old, the family received the diagnosis: Angelman syndrome, a rare neurogenetic disorder. In an article from the Messenger-Inquirer, author Karah Wilson explains that Harper’s condition was caused by a 15th chromosome deletion from the maternal side. Since Harper’s diagnosis, the Webb family has not only worked to raise Angelman syndrome awareness, but funds to advance research. 

The Webbs began Harper’s Hope soon after Harper’s diagnosis. Through this 501(c)(3) nonprofit organization, and their fundraising endeavors, Harper’s Hope has raised just $10K less than $200,000 for the Foundation for Angelman Syndrome Therapeutics (FAST). FAST is the leading Angelman syndrome patient advocacy organization that is dedicated to finding a cure for Angelman syndrome and related disorders. For example, gene therapy and ASO treatment are being explored as potential options. 

Each year, Harper’s Hope holds two annual golf tournaments to raise funds and awareness. According to the Facebook page, the 10th Annual Golf Scramble will take place on June 3, 2023 in Louisa, KY; another tournament will occur on August 5, 2023 in Owensboro, KY. You can learn more information on the organization’s page. 

Outside of Harper’s Hope, the Webb family is committed to spreading education around Angelman syndrome and ensuring that Harper’s life is the best that it can be. Harper does have seizures and still struggles with sleep. Despite this, her family says, the 4th grader lights up every room with her amazing smile and cheerful personality. 

What is Angelman Syndrome?

Resulting from absent or abnormal UBE3A expression, Angelman syndrome is a rare disorder that primarily affects the nervous system. Many people with Angelman syndrome do not have a family history of this disorder. Symptoms may not be present at birth; however, they often manifest within the first few years of life. These symptoms and characteristics may include: 

• Developmental delays
• Learning disabilities
• Hypotonia (low muscle tone) of the trunk
• Hypertonia (increased muscle tone) of the arms and legs
• Small head size
• Minimal to absent speech
• Tongue thrusting
• Feeding difficulties (in younger children)
• Obesity (in older children)
• Happy, excitable personalities
• Hand-flapping and uplifted arms
• Sleep disorders or difficulties
• Ataxia (movement and coordination difficulties) 
• Seizures

Angelman syndrome may be initially misdiagnosed as autism spectrum disorder (ASD) or cerebral palsy. This disorder is not associated with a reduced lifespan. Currently, doctors may prescribe treatments to help manage symptoms, but no cure exists.