The London Marathon took place on April 23, 2023—and one mom was running for an especially important cause: to raise Angelman syndrome awareness.
According to an article from the BBC, Janette Gray’s son James, now 25 years old, was diagnosed with Angelman syndrome at 18 months old. Throughout his upbringing, people in the streets would make snide, disparaging comments about James. It hurt Janette to hear that people judged James so harshly, especially because her love for her son runs so deeply.
In running the London Marathon, Janette hoped that she would help educate others on Angelman syndrome. Through sharing her son’s story, she wants others to see that people with rare conditions or disabilities are valuable, whole people; they shouldn’t be stereotyped or discriminated against based on ableist ideals.
In addition to raising awareness, Janette’s run also raised funds for Mencap, a UK-based charity designed to support individuals with learning disabilities.
What is Angelman Syndrome?
Angelman syndrome is a rare neuro-genetic disorder that primarily affects the nervous system. It is caused by a missing or defective gene on chromosome 15. This gene change is sporadic; most people with Angelman syndrome have no family history of this disorder. Angelman syndrome may be misdiagnosed as cerebral palsy or autism. Developmental delays, one of the main characteristics of this disorder, typically appear between 6-12 months old. By 24 months old, seizures typically begin. Additional symptoms and characteristics may include:
- Happy, excitable personality
- Frequent smiling and laughing
- Minimal to no speech
- Hypotonia (low/weak muscle tone) in the trunk
- Tongue thrusting
- Hand flapping and uplifted arms when excited
- Stiff or jerky movements
- Ataxia (difficulty coordinating voluntary movements)
- Small head size
- Feeding difficulties
- Obesity (in older children)
- Sleep disorders
Right now, there are no cures for Angelman syndrome. People with this disorder typically have normal lifespans. During their lives, doctors may help manage the symptoms with anti-epileptic medicines, communication and behavioral therapy, and physical therapy.
