How Shannon defied her son’s Angelman Syndrome diagnosis

  • How Shannon defied her son’s Angelman Syndrome diagnosis image
It occurs in just 1 of 40,000 pregnancies. Angelman syndrome comes without warning or explanation, causing chromosome 15 to be filled upside down.

Proud Ngunawal woman Shannon Worthley instinctively knew that something was perhaps not quite right with her son. He was smiling, bubbly, and incredibly cheeky, but his inability to sit up or mimic her behaviour raised warning signs. But it wasn’t until an unplanned trip to the emergency room that she started her journey towards a diagnosis.

“I went away to Queensland for a holiday actually to go and see my dad, and he got sick up there, so we had to go to the emergency department at the Hospital. And one of the paediatricians said that the way my son was sort of rocking back and forth on the bed wasn’t normal.”

“And she gave me a referral letter, and when I got home, we went to the Hospital and the paediatricians there, they diagnosed him with Global Development delay. So, you know, that’s a variety of everything,” says Shannon.

Five years later, Shannon decided to get her son genetically tested, where her suspicions of the disease were eventually confirmed.

She now had a name.

But it didn’t mean that her son would suddenly walk or talk, and she wasn’t going to leave with a cure – but it did mean that they could now, finally move forward.

“Yeah, it’s hard, it’s hard. But I always say, you know, I’ve got other families and friends that have children with special needs. And we’ve seen a lot of kids growing up, being in and out of hospitals, and seeing kids that are much worse off than my son, and, as hard as it is – it could be worse,” says Shannon.

Surrounded by the support of her family, Shannon and her son have confronted Angelman Syndrome headfirst – their uncomplicated and unflinching love standing in the face of limitations. Together they resolutely stride towards giving him a feeling of independence and the comfort of his own community.

A full-time carer of her 19-year-old son, Shannon hasn’t let Angelman’s syndrome define him – finding systems of support in her mob and Canberra’s intimately connected communities.

“He’s got a better social life than I do. He’s always gone. He’s up first thing in the morning, on his little bus or taxi, you know, out for the day doing things with his little community,” reflects Shannon.

And this love doesn’t just stop at Shannon – it radiates deeply throughout her culture and her people. As Shannon explains, everyone in her family embraces her son’s quirks, his characteristically big smile and innate ability to spark joy.

“My family, they are real good with him. They love him, and they just grab him and rough him up and stuff.”

And while her son finds himself shadowed by the challenges of Angelman Syndrome, Shannon will always know him as her bubbly boy. Whose blood flows the Ngunnawal people, who has defied expectations and made her not just a carer but a proud Mum.

“He just lights up a room – everyone loves him… And his laugh is just amazing. He’s got this beautiful, curly, fuzzy hair. And he’s just got a beautiful smile.”

 

Shannon’s full story is on Common Grounds, a First Nations carer podcast.

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