Sam is not thrilled with this turn of events. The seven-year-old can see the tray full of cupcakes his mum has made for his birthday party, but he’s not allowed to polish them all off at three in the afternoon; the celebrations will begin at five. He may not talk – a common trait of those with Angelman Syndrome – but that doesn’t mean he won’t communicate his displeasure. He has this sound – his mum, 48-year-old Emily Ray, demonstrates – somewhere between a sneeze and a wail that means he needs things around him to change.
The family began to decode this language of sound, gestures and physical interaction around the time Sam first sat up, at the grand old age of six months. This would be the first and one of the only developmental milestones he made on time. Emily, who is a British expat based in Dubai, knew something was amiss. “He wasn't crawling, he wasn't rolling over. He wasn’t babbling,” she recalls. His older sister, Maya, had done all of that.
Every time Emily would coo at him, each time she’d call his name, she’d furrow her brows, too; why hadn’t he twitched, moved, followed the sound of her voice? Based in Fujairah at the time, the teacher drove all the way to a Dubai hospital to have him seen by an ear-nose-and-throat specialist. Nothing was wrong, he said. This was followed by a visit to an audiologist, doctors who identify and manage disorders of hearing, balance and other neural systems. Nothing seemed wrong. But the audiologist asked her to see a development paediatrician. She suspected Autism.
Source: Cleveland Clinic, US
“My mother was staying with me at the time. We walked in and the doctor took pretty much one look at Sam and said he has Angelman Syndrome,” she says. A hush spread across the room, she recalls, before they tasted the sound of the words. “We drove home in silence,” she says.
The syndrome affects 1 in 12,000 to 20,000 people – and currently has no cure.
“The day he was diagnosed it was really odd… you are grieving for a child who is still alive. You are grieving for about six months; for the child's future - that you had dreamt of, he would do this or that at school, he would be tall and play basketball, he’d get married…
“When they're born, you have dreams for your child. What you don't expect, is to find out that your son will need 24-hour care for the rest of his life,” she says.
That loss was so poignant that Emily found herself in tears when she’d talk about how difficult Sam’s life would be, their family’s life would be. “And then, after a while, you find that you're talking about him, and you're not crying,” she says. “And you get on with it.”
Looking at the bright side
And you begin to focus – on the fact that Sam’s eyes are a hazelnut surprise; he’s got a rare eye condition called heterochromia that makes it seem like green, grey and blue fleck his pupils, hues changing as the angle of light does. On the fact that Sam’s condition means an inherent happiness and the charm of finding a little boy smiling all the time. On the fact that Sam doesn’t get happy and sad; he gets happy, then happier. “You can tell because he’ll giggle at you when he’s extra happy,” says his mum.
“There are times when it's a real joy. Kids with this syndrome love to give bear hugs all the time …and that is a really lovely thing to come home to. He's so happy. He brings joy to other people as well. He enhances their lives. Seeing them, he’ll make lots of noises, and jump up and down, flap his arms. He brings joy to other people just by being himself,” she says.
Sam’s Angelman type
Dr Vishal Pawar, Specialist Neurology at Aster Clinic, explains that Angelman Syndrome is a neurodevelopmental disorder. “It is a genetic disorder due to the reduced expression of a gene called ubiquitin protein ligase E3A (UBE3A). The protein UBE3A is critical for the processes of learning and memory,” he says.
Angelman may be caused because of a genetic mutation. US-based Cleveland Clinic explains: “This is a change in a sequence of your DNA. Your DNA sequence gives your cells the information they need to perform their functions. If part of your DNA sequence isn’t complete or is damaged, you might experience symptoms of a genetic condition.”
It adds: “People normally inherit one copy of the UBE3A gene from each biological parent. Both copies of this gene are ‘turned on’ (active) in many of your body's tissues. But in certain areas of your brain, only the copy inherited from your birthing parent (maternal copy) is active.
“If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, you’ll have no active copies of the gene in some parts of your brain. This causes the characteristic symptoms of Angelman syndrome.”
In Sam’s case, he is missing the maternal gene and he has two paternal copies of it. What this means for him is:
- He doesn't speak.
- He has cognitive impairments.
- He has developmental delays.
- He has low muscle tone.
- He has had problems sleeping.
- He has gaps in his teeth at the front. He has a very wide smile.
Looking neurotypical
Sam looks neurotypical, says Emily, and this has caused issues in public. “While most of the people we come across are positive, understanding and helpful, there are those who will get upset because of his a-typical behaviour.” This only fuels her desire to talk about what the condition is and how may manifest.
Dealing with the ups and downs
Emily, who teaches French and is a photographer, says the financial strain is very, very real. “I don't take him for therapies… as a single mother, they're just too expensive. And so we do a lot with him at home. Now what we want to get him on to doing is what's called augmentative alternative communication (AAC).The idea is that he has an iPad. And then there's a program on the iPad. And so for example, it's got lots of pictures, and you've pressed the picture for a banana. The computer says banana,” she explains.
The problem at the moment is that he gnaws on the iPad. “We tried looking for a really tough case, to put on the iPads but I haven't managed to find one for him yet because one of his favourite things to do is to tear things apart,” she laughs.
“So that's the side of it that’s a little bit tricky to come to manage, you just have to remember that he will destroy everything that he can find. So my sitting room has safety gates, the kitchen has a safety gate, the bathrooms have a safety gate, so do the stairs, the front door, the back door…. everything designed to keep him safe,” she says.
With kids with Angelman, she says, they need activity – she explains: “Unless he’s physically exhausted, he can’t sleep and he’ll be fidgety. Fortunately, children with Angelman also adore water. So he spends a lot of time in the swimming pool. And could stay in there, you know, two, three hours a day easily. And this allows him – and us – to get a good night’s rest.”
The alternative, she admits, is terrifying. She recalls a recent incident where she woke up at 4.30am and finding the glass of water on her bedside empty, walking out of her room. The first shock came when she saw Sam’s door ajar. Tip-toeing in, she looked around. The room looked stark; the modified crib – a bunk bed turned upside down - was bare; her boy was missing.
She paddled down the stairs, careful not to wake the others in the house, panic driving her feet. She found him in the living room amid things that had been thrown and vandalised, sitting there with a smile on his face.
Siblings bond
Today, Sam is beating at one of his safety doors in order to get attention as his older sister, Maya, watches over him.
“Maya is very empathetic and caring. And very open to differences in other children. Plus, she engages with him now that he's a bit older. He loves playing hide and seek with her,” says Emily.
It is difficult to be a young carer, she admits, but Maya is “really good with him”.
For Emily, it’s important to talk about her son’s condition. She says: “I do a lot to raise awareness. And by raising awareness, I feel that I am doing something worthwhile. It helps me feel that he has a purpose… that he's here for a reason. He’s here to brighten people's lives. He's here to give hugs to people who need a hug. He's here to bring joy into people's lives. He's here to make people think about others who are not neurotypical, he's here to raise awareness and people of determination in general.”
Life with a neuroatypical child, says Emily, is like a place you never thought you’d visit, but you find yourself in it. And you see that while it’s different, it’s still good. Everyone’s got some cloudy weather – everyone, until Sam walks in and smiles; suddenly, it’s bright again.
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