The iconic tower turned blue to raise awareness of Angelman Syndrome, in recognition of a British expat whose son has the rare disorder
15 February 2020| Last updated on 18 February 2020
Here's what you should know about Angelman Syndrome...
Dubai's Burj Khalifa was lit up in blue on Saturday 15th February to mark International Angelman Syndrome Awareness day. Observed every year, the event shines a spotlight on the rare neurogenetic disorder called Angelman Syndrome.
Its awareness day falls on February 15 as February is International Rare Diseases month, and the date signifies that the disorder affects chromosome 15. International Angelman Syndrome Day is a day dedicated to raising awareness of this condition, encourage action, minimise miseducation, promote more research and educational resources, and honour those affected with the genetic syndrome.
Though it is quite rare, there are residents in the UAE who live with this condition. This includes four-year-old Sam Ray-Elkhodry who was diagnosed with Angelman Syndrome in April 2017.
Why was the Burj Khalifa in blue?
Sam's mum, British expat Emily Ray, has since spent years campaigning awareness about the disorder in Dubai. Her efforts were eventually recognised by an increasing number of residents and Emiratis through social media.
This year, Emaar lit up the Burj Khalifa on International Angelman day thanks to Ray's hard work. The colour blue was picked as it is the awareness colour for the condition.
What is Angelman Syndrome
Angelman Syndrome is very rare neuro-genetic disorder that affects 1 in every 15,000-20,000 people, and has been diagnosed in an estimated 500,000 people worldwide.
It is caused by a mutation of chromosome 15, named UBE3A. Normally, people inherit one copy of this gene from both parents, however, if only one copy of the gene is functioning in the brain, then the person may develop Angelman Syndrome.
Those diagnosed with Angelman Syndrome will experience delayed development, seizures, difficulty balancing themselves, minimal or no speech, and intellectual disability.
Angelman Syndrome symptoms
Signs of Angelman Syndrome typically appear during childhood, which may include:
- Little to no speech.
- Imbalance when walking, standing, or sitting.
- Development delays.
- Frequent smiling or laughter, with a happy and excitable personality demeanor.
- Stiff or jerky movements.
- Smaller sized head.
- Tongue will be frequently thrust out.
- Difficulty sleeping or staying alseep.
The disorder shares a few common characteristics with other conditions such as cerebral palsy and autism. If someone you know has any of these symptoms, it's recommended you seek professional healthcare to avoid misdiagnosis.
These signs are usually present during infancy and early childhood.
Complications with Angelman Syndrome
Some complications a person with Angelman Syndrome may experience are:
- 1. Difficulty eating
Someone with Angelman Syndrome might struggle with coordinating chewing, swallowing, and sucking, which can cause problems in infants.
- 2. Hyperactive personality
Children who have this condition may have a short attention span, move from one activity to another, have jerky or stiff movements similar to puppets, or keep hands and toys in their mouths.
However, hyperactivity will usually decrease over time.
- 3. Problem sleeping
Abnormal sleep patterns, difficulty getting to sleep, and problems staying asleep.
- 4. Scoliosis
Some people diagnosed with Angelman Syndrome might develop a curvature of their spine, which may happen over time.
- 5. Weight gain
More common among older children who have big appetites. This may lead to obesity.
Although people with Angelman Syndrome may experience delays in learning, movement, and development, they are usually very happy and excitable people, whose smiles will light up a room.
Children and adults with AS have a natural love to socialise and connect with other people, spreading their heartfelt ear-to-ear smiles.