His brain is typically firing on all cylinders and his infectious smile never leaves his face. Yet five-year-old Sam Ray-Elkhodry doesn’t go to school.
Sam has Angelman’s Syndrome (AS), a rare, neurogenetic disorder which affects 1 in 20,000 live births. The conditions he is affected by include lack of speech, cognitive impairment, developmental delay, low muscle tone, low immunity, abnormal sleep patterns and arm flapping. However, little Sam braves it all with a very happy demeanour – which is also due to his neurological condition.
"He has two copies of the paternal chromosome 15 and no maternal copy. As only 3-4 per cent of people with AS have it because of uniparental disomy (UPD), that makes him roughly 1 in 375,000. He is rare, within rare," explains his mother Emily Ray, a British teacher and photographer.
Sam was around one year old when he underwent a hearing test after his parents feared that could be a reason he had not started talking. Not satisfied, the doctor suggested the little boy take a few more tests. Finally, at 20 months old, Sam was diagnosed with AS. "April 6, 2017 is a date we’ll never forget," says Emily. "I knew about Down Syndrome and autism but had never heard of AS. I was with my mother at the doctor’s appointment and we were both shocked [when the doctor explained the condition]. We sat in total silence for the long car journey home. Later, I realised that getting the diagnosis was actually a relief because then you know what you are dealing with and it is not the unknown anymore, or guesswork."
Realising that standing up and facing it was the best way to go about life, Emily explained Sam’s condition to all those who wanted to know about her son. "I found it easier, so that I didn’t have to answer any more questions about why Sam wasn’t talking, babbling, rolling, crawling, cruising, walking etc."
She admits it was not easy initially. "When you first start talking about it, you cry every time. You have to go through the grieving process of a child who is still alive. The hopes and dreams you had for him vanish overnight and you are left to pick up the pieces, whilst planning for a future which is totally unknown," she says.
But having a strong support system helped a great deal. She reached out to Angelman Families on Facebook who were extremely supportive in empathising and offering advice. Sharing Sam’s story alleviated the loneliness (and some of the shock) and she was also introduced to other families whose children have AS. "Meeting one of those mums for the first time was quite overwhelming. It’s due to the sheer relief of knowing that someone else can understand, that things can get better, that situations change, and you can adapt," says Emily.
Sam doesn’t attend school because Emily is unable to afford the high costs involved in putting him in a centre for special kids.
She offers him whatever help she can at home.
Sam’s elder sister Maya, 6, is extremely empathetic, kind, considerate, and caring and she understands her little brother’s every need, says Emily. "For instance, she knows that she cannot do a puzzle in the sitting room if he is there, as he would pick up the pieces, eat or break them unintentionally. So when she wants to play, she goes to another room."
When Burj Khalifa turned Blue
Keen to raise awareness about AS, Emily took it upon herself to start sharing social media posts about Sam’s achievements and developments. It did not take long for people to start taking notice of her posts and she began receiving plenty of messages asking about AS.
Then last year she decided to take it to the next level. "I had the idea of asking the Burj Khalifa to turn blue, 3 days before International Angelman Day. As a result of all the raising awareness I had done previously, lots of people already knew about Sam. So, when I posted a message on various FB groups, the replies started flooding in. Luckily one person was able to point me in the right direction. I reached out and the rest is history," says Emily.
On Angelman Syndrome Day, February 15 last year, the Burj Khalifa was bathed in blue to raise awareness on the condition. February 15 was chosen as it is the 15th chromosome that is affected causing the condition.
This year, other iconic landmarks like The Frame, Ferrari World, Warner Bros. and CLYMB lit themselves up blue in support as well. "The representatives of Ferrari World saw a post I wrote and got in touch with me, saying that they would like to turn blue for AS. It’s a great feeling, to know that an organisation would wish to help us celebrate IAD, even though they are completely unrelated to us," says Emily.
Smiling with Sam
Last September, Emily initiated the Smile with Sam photo project to capture Sam and other people along with pets of determination. "The central theme is that they are different, not less," explains Emily. To that end, Emily began photographing a wide variety of both people and pets, including individuals with Down’s Syndrome, cerebral palsy, ASD and aurall challenged. The pets also are special – some of the dogs and cats have two legs or three; a few are deaf, blind, or have congenital issues.
Sam really loves the project as he does not stress about being in different places, environments, situations or when meeting new people. "His smile transcends everything and he touches people, literally and figuratively. He actually has no idea at all of the impact which he has on people. They take pride in what he is doing, even though they have never met him.They would request to meet him, for their children to meet him, to learn more in order to promote awareness themselves," says Emily.
"I never know who will read my posts or see the stories and maybe it will be the next family whose child has just been diagnosed with AS. This is why we must continue to talk about AS, about Sam, about the families of children with AS, so that one day, perhaps, it will be as well-known as Down Syndrome or Autism."
For more details about Smile with Sam – Photo Project, visit @smile.with.sam.as and instagram.com/mybluealbatross.