February 15th is recognized annually as International Angelman Day, a day dedicated around the world to spreading awareness among the general public and in the medical field about Angelman syndrome, a rare disorder. With February being International Rare Disease Month, the 15th was selected as the day because the 15th chromosome is altered in patients living with the disease.

About Angelman Syndrome

Angelman syndrome is a type of genetic disorder that impacts the nervous system. This disorder is not inherited from parents, but instead occurs as a spontaneous genetic alteration, typically the deletion of a segment from chromosome 15 called UBE3A. A mutation of this gene can also cause Angelman syndrome. Symptoms of this disorder can include seizures, developmental delays, a small head, an excited and happy demeanor, trouble with balance and movement, intellectual disability, and speech issues. Patients may share certain facial characteristics. Symptoms become noticeable at about one year old. Treatment is supportive and symptomatic, and there is currently no cure. Patients have a strong desire for social interaction, and despite limited language are able to understand much of what is happening around them. Life expectancy is generally close to that of an unaffected person. To learn more about Angelman syndrome, click here.

International Angelman Day

International Angelman Day was established to spread awareness, mobilize the public to action and fundraising for patient organizations, remember those that have died because of Angelman syndrome, and promote research and educational initiatives. 

Here are some ways that you can get involved in the event this year:

1. Raise Worldwide Awareness: Social media is one of the most important tools for spreading awareness. Don’t hesitate to post about International Angelman Day on all of your social media platforms using the hashtag #IAD2021.  You can find cover photos, profile picture frames, sample posts, and more here.
2. Mobilize Action/Fundraising: Is there an Angelman organization in your country? If you can find one, donating to support their goals, such as research funding and patient assistance, can make a difference for patients. Learn more about this here.
3. Promote Education and Research: Research is critical to improving the lives of people living with Angelman syndrome. A critical resource is Global Angelman Syndrome Registry. Click here to learn more.