International Angelman Day
Every year, International Angelman Day raises the alarm of a rare neuro-genetic disorder called Angelman syndrome. In addition, the day helps us better understand this disease and the need for more research.
1 in 12,000 to 20,000 people around the world suffers from Angelman syndrome. This rare disease occurs when the UBE3A gene in the 15th chromosome's genome loses function. This particular chromosome is derived from the mother. The majority of diagnoses occur between the ages of 6 to 12 months. It's during these years that the signs of illness become most apparent.
The following are common signs of Angelman syndrome:
- Delay in developmental milestones Delay in developmental milestones..
- Limited speech
- Unprovoked laughter and joking have been accompanied by smiling and joking..
- Hyperactivity
- Short attention span
- Whether you're sleeping or needing less sleep is a problem
- Limited mobility
These signs may vary from child to child. Some children with Angelman syndrome have seizures, while others have reduced muscle tone or exaggerated reflex responses. In addition, many babies have feeding issues and swallowing difficulties. The signs are similar to cerebral palsy, autism, and Prader-Willi syndrome. Many children with Angelman Syndrome also have a misdiagnosis due to these similarities. As one gets older, Angelman syndrome's signs increase. However, those with this rare disease require life-long care.
Dr. Harry Angelman, an English doctor, discovered the condition in 1965 and published a research paper that first described children with symptoms. Many doctors were concerned about the existence of the drug because it was so unusual. Dr. Angelman coined the condition "Happy Puppet Syndrome" to describe unprovoked laughter of children with the disease.
Dr. Charles Williams discovered that the disease was more common than previously believed in 1982. He, along with Dr. Jaime Frias, suggested that the condition be renamed Angelman syndrome.' In 1986, Dr. Williams founded the Angelman Research Group (ARG), which later became the Angelman Syndrome Foundation.
How to celebrate #internationalangelmanday.
On this day, the event will be focusing on increasing understanding of Angelman syndrome and hosting fundraisers, as well as supporting research. It's also a day to honor those with Angelman syndrome who are no longer with us. To participate: To participate: To participate: To participate: You must register: To participate: To participate: To participate:
- research for Angelman syndrome. Donate to an organization that funds Angelman syndrome research
- If you, or a loved one, has been diagnosed with Angelman syndrome, please share your experience with others
- Watch "Lou" which depicts a day in the life of a young man with Angelman syndrome
- Join a fund in your neighborhood or create one yourself
r #WhatIsAngelmanDay on social media, spread the word on social media with #InternationalAngelmanDay or #WhatIsAngelman.org.
International angelman Day is the longest in history for a global angelman day
The first International Angelman Day was held in 2013. In 2013, the first International Angelman Day was held. The Angelman Syndrome Foundation coordinates and promotes the day.
