Opening Statement:
For those who are not aware of what Angelman Syndrome is, it is a neurogenetic disorder affecting chromosome 15 that causes intellectual and developmental delays. Angelman Syndrome is a rare disorder occurring in one out of 15,000 babies. It affects males and females equally. The name originated with English pediatrician Harry Angelman, who initially referred to the condition of three of his patients as “Puppet Children.” Today, over 490,000 people live with Angelman Syndrome worldwide. On February 15th, you can show your support by checking out community resources, wear blue angel wings, or ribbons.
History Of International Angelman Day
· Harry Angelman first discovered the neurogenetic disorder Angelman Syndrome at Warrington General Hospital in 1956. Although the condition had no name at the time, the symptoms in each person were similar; motor disorders, intellectual delay, a happy demeanor, and lack of speech. Angelman visited the Castelvecchio Museum in Verona during a trip to Italy and discovered a painting by Giovanni Francesco Caro called, ‘A boy with the puppet.’ As he looked at the artistic impression, images of his patients came to mind, which led him to write an article about their condition entitled “Puppet Children.”
· There was little data on the condition until 1982. Dr. Charles Williams and Dr. Jaime Frias of the Department of Pediatrics at the University of Florida College of Medicine, Gainesville, successfully submitted a paper to the American Journal of Medical Genetics describing six patients and comparing their results to previous reports. The report included symptoms very similar to those described by Angelman, including severe developmental delay, a puppet-like gait, craniofacial abnormalities, and frequent laughter. Thus, Williams and Frais proposed the disorder be named Angelman Syndrome.
· Williams founded the Angelman Research Group (A.R.G.) to facilitate and support research and education concerning Angelman Syndrome in 1986. By 1990, the A.R.G. had formed the Angelman Syndrome Foundation. Two parents with children suffering from Angelman Syndrome came up with the idea for International Angelman Day. National Angelman Syndrome organizations worldwide accepted this idea, and the unanimous date of February 15 was agreed on. The first commemoration of this day was in 2013.
International Angelman Day Timeline
· 1956 - Initial Discovery
Dr. Harry Angelman discovers Angelman Syndrome symptoms.
· 1986 - The Neurogenetic Disorder
Dr. Charles Williams and Dr. Jaime Frais name the genetic disorder Angelman Syndrome after Dr. Harry Angelman.
· 1990 - Angelman Syndrome Foundation
Dr. Charles Williams and the Angelman Research Group start the Angelman Syndrome Foundation to educate and facilitate research on Angelman neurogenetic disorder.
· 2012 - International Angelman Day
The idea for International Angelman Day starts with two affected families on different sides of the world.
· 2013 - First Inaugural Event
The first inaugural event for International Angelman Day takes place.
How To Observe International Angelman Day
· Join A Committee or Group
You can make a difference by using your skills and areas of interest. Help others and join any committee listed on the Angelman Foundation website.
· Volunteer
Another way to observe International Angelman Day is by volunteering, either by assisting with the coordination of A.S.F. walks or donating. Every little bit helps.
· Spread And Create Awareness
Educate yourself about Angelman Syndrome and help share media content and information to create awareness. The more people know about this disease, the better.
5 Important Facts About Angelman Syndrome
1. Infants Appear Normal at Birth
Children born with Angelman Syndrome do not exhibit symptoms until six to 12 months.
2. There Is No Treatment
A wide range of clinical therapies, including medical treatment for seizures, and physical, communication, and behavioral therapies, are offered to help patients achieve maximum development.
3. Angelman Syndrome Life Expectancy
The life expectancy for individuals with Angelman Syndrome appears to be nearly normal.
4. Affects Both Genders
Angelman Syndrome affects both males and females equally.
5. Angelman Syndrome Causes Imprinting
Genomic imprinting is a key phenomenon associated with Angelman Syndrome.
Why International Angelman Day Is Important
· It Serves as A Memorial
International Angelman Day allows us to remember people with Angelman Syndrome who have passed away. This process is also a vital step in the grieving process.
· It Creates Awareness
International Angelman Day aids in raising global awareness about the condition and promotes collaboration in research and education. Spreading accurate information can be life-changing for people dealing with the syndrome.
· It Creates Community Atmosphere
International Angelman Day creates a community for families with children who have the syndrome to come together for support and encouragement. A little support from someone who understands what you’re going through makes a huge difference.
Closing Statement:
I never heard about this disorder until I noticed it on a disability awareness calendar. I thought it would be a needed and worthwhile topic to write about and share with my readers and others. With the research I’ve read, and now become knowledgeable about, children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are very common. Most affected children also have difficulty sleeping and need less sleep than usual. There are non-profit advocacy groups, such as the Angelman Syndrome Foundation, and the Foundation for Angelman Syndrome, as well as therapists that offer support to patients and families.
Source of Information: Various Google Searches
Until Next Week, Stay Safe and Well!