INTERNATIONAL ANGELMAN DAY
Every year on February 15th, International Angelman Day spreads awareness for a rare neuro-genetic disorder called Angelman syndrome. The day also encourages us better to understand this condition and the necessity for more research.
Angelman syndrome affects 1 in 12,000 to 20,000 people around the world. This rare disease occurs when the UBE3A gene in the 15th chromosome loses function. This particular chromosome is derived from the mother. Most diagnoses occur between the ages of 6 to 12 months. It’s during these ages the symptoms become most noticeable.
Common symptoms of Angelman syndrome include:
- Delay in developmental milestones
- Limited speech
- Unprovoked laughter and smiling
- Hyperactivity
- Short attention span
- Trouble sleeping or needing less sleep
- Limited mobility
These symptoms vary from child to child. Some children with Angelman syndrome have seizures, while others have decreased muscle tone or exaggerated reflex responses. Additionally, many babies experience feeding problems and swallowing difficulties. The symptoms are similar to cerebral palsy, autism, and Prader-Willi syndrome. Due to these similarities, many children with Angelman Syndrome often receive a misdiagnosis. Some symptoms of Angelman syndrome improve as one gets older. However, those with this rare disease need life-long care.
In 1965, the English physician Dr. Harry Angelman discovered the syndrome and published a research paper that first described children with symptoms. Because it was so rare, many physicians doubted its existence. Due to the unprovoked smiling of laughter of children with the disease, Dr. Angelman named the condition “Happy Puppet Syndrome.”
In 1982, Dr. Charles Williams discovered that the disease was more prevalent than previously thought. He, along with Dr. Jaime Frias, proposed that the condition be renamed Angelman syndrome. In 1986, Dr. Williams started the Angelman Research Group (ARG), which later became the Angelman Syndrome Foundation.
HOW TO OBSERVE #InternationalAngelmanDay
Events on this day focus on raising awareness of Angelman syndrome and hosting fundraisers, and promoting research. It’s also a day to remember those with Angelman syndrome that are no longer with us. To participate:
- Donate to an organization that funds research for Angelman syndrome
- If you, or a loved one, has been diagnosed with Angelman syndrome, share your story with others.
- Watch the movie “Lou” which shows a day in the life of a young man with Angelman syndrome.
- Participate in a fundraiser in your community, or organize one yourself.
Spread awareness on social media with #InternationalAngelmanDay or #WhatIsAngelman
INTERNATIONAL ANGELMAN DAY HISTORY
The first International Angelman Day was held in 2013. The Angelman Syndrome Foundation organizes and promotes the day.
