February 15, 2013 marked the first-ever International Angelman Day. The day, still celebrated nine years later, aims to raise global awareness for Angelman syndrome. Additionally, International Angelman Day serves to spur research and education, honor and remember those with Angelman syndrome who have passed, raise funds, and connect the community.
The day chosen for International Angelman Day – February 15 – is also particularly meaningful. As many of you may know, February is Rare Disease Month. During this month, the rare disease community comes together to increase knowledge and understanding of the over 7,000 rare diseases in the world. Additionally, the 15th refers to the 15th chromosome: the affected chromosome in Angelman syndrome.
So, join Patient Worthy in learning about both Angelman syndrome and how you can help raise awareness on International Angelman Day.
The source article can be found here.
What is Angelman Syndrome?
In the 1960s, Dr. Harry Angelman noticed a specific set of characteristics in children and documented his observations. Later, in the 1990s, researchers developed genetic testing for what we now call Angelman syndrome. This rare neuro-genetic disorder results from genetic issues on chromosome 15. In particular, those affected are either missing the UBE3A gene entirely or have a defective gene. Most people with Angelman syndrome do not have a family history of this condition. While those affected may require life-long care, Angelman syndrome is not associated with a reduced lifespan.
Angelman syndrome impacts the nervous system, often causing noticeable developmental delays within the first year of life. Because of the way that Angelman syndrome manifests, it may be misdiagnosed as autism or cerebral palsy. Symptoms and characteristics include:
- Developmental delays
- Happy, excitable personalities with frequent laughing and smiling
- Seizures
- Feeding difficulties
- Obesity
- Sleep disorders
- Stiff or jerky movements
- Tongue thrusting
- Hand flapping or uplifted arms
- Ataxia
- Lack of speech
- Small head size
How to Raise Awareness for International Angelman Day
If you would like to help raise awareness on International Angelman Day, there are quite a few ways that you can get involved!
- Raise your voice! To raise awareness and educate others, we must first be willing and able to start the discussion. Use #IAD2022 on your social media posts to talk about International Angelman Day. The Angelman Syndrome Foundation also offers customizable social media imagery and worksheets that can be used to raise awareness.
- Hold a fundraiser. If you’re looking for a hands-on and actionable way to get involved, consider holding a fundraiser for the Angelman Syndrome Foundation.
- Participate in research. Are you a caregiver or family member of someone with Angelman Syndrome? Taking part in a research study could help advance knowledge around this condition.
- Share educational resources. Wearing blue on International Angelman Day is definitely a way to raise awareness – but so is spreading education! Sending these Facts about Angelman Syndrome to local medical providers, hospitals, schools, newspapers, or even families can help teach others more about Angelman syndrome.
For other ideas on how to raise awareness, take a look at this helpful compilation on the International Angelman Day website.
