'The trauma of the unknown': Aussie mum's plea after son diagnosed with rare disease

Photo: Julie and Henry (Supplied)
Photo: Julie and Henry (Supplied) 

Julie Edwards and her husband always dreamt of having two kids close together in age.

When the Adelaide mum and lawyer discovered she was pregnant when her first son, Caleb, was seven-months-old, she was thrilled.

"Every scan and ultrasound was perfect," she tells Essential Baby. "We couldn't wait to grow our family."

Photo: Supplied
Photo: Supplied 

Although Henry arrived three weeks early and Julie struggled to breastfeed as he didn't have a proper sucking reflex, he was otherwise a delightfully healthy little boy.

For the first six months, there were no signs of the traumatic journey that lay ahead for the young family. 

"Henry rolled on time and army crawled at five months, but I was still a bit concerned about his sucking issues," 35-year-old Julie explains. 

After multiple trips to the paediatrician, Henry was diagnosed with a submucuous cleft. He also had fluid behind his ears and went on to have grommets and adenoid surgery. However, as Henry's first birthday approached, Julie started suspecting something more was going on. 

"Henry wasn't babbling, he had a primitive grip and was struggling to put on weight. And he just wasn't interested in walking."

"I felt so alone"

 After seeing three different paediatricians, Julie kept hitting brick walls and was even warned against genetic testing. 

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"I remember feeling very lost at the point," she explains. "It was a tough time already, we were going between specialists because of Henry's weight, plus seeing speech therapists, occupational therapists and physios, but the doctors just kept telling me to 'wait and see'."

Julie describes those years of the unknown as "the most horrendous years of my life".

"There is nothing more frustrating than not having an answer for why your son isn't talking and why he is developmentally delayed," she says. "You watch your friends' kids all developing normally and go on playdates. Everyone has an opinion about what's wrong. I was struggling with my child's medical and behavioural issues and his inability to communicate - all while trying to raise another child and hold down a job."

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Supplied 

She adds: "I was desperately trying to maintain a normal life while everything fell apart. I felt so alone. I was running around trying to find someone else in my position. People kept pushing back. I thought I was losing my mind." 

It wasn't until Henry was two-years-old and recovering from facial surgery in hospital that doctors finally agreed to genetic testing. 

Henry's blood was sent to the US for analysis, which eventually lead to a diagnosis of Glass Syndrome, also known as SATB2, four months later. The disease is so rare, there are currently only 300 cases worldwide.

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"It changed everything"

The phone call Julie received on March 22, 2016 is one she will never forget. 

"It was the hardest phone call I have ever taken," she admits. "And the hours and days that followed were the darkest of my life. It was utterly devastating. I grieved. There were a lot of tears as we processed the news and shared it with friends and family. I feel like I lost a little piece of me that day."

However, Julie was also very grateful to finally have a diagnosis and admits "it changed everything" for the young family. 

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"Once I got through the initial shock and grief, I was able to arm myself with the tools to appropriately support Henry and ourselves."  

Glass Syndrome is so rare that there are still a lot of unknowns, but the key characteristics are severe speech problems, intellectual disability, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioural problems. 

"Henry is non-verbal and also has Global Developmental Delay and autistic tendencies," explains Julie. "While he has some word approximations, he calls his brother Caca for example, he can't talk and will never say 'Mum, I love you'. He also has crowded teeth and his mouth abnormalities have caused a lot of medical issues." 

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Fortunately, Henry is now able to communicate with the aid of an Augmentative and Alternative Communication (AAC) device which can connect to an app on an iPad, the little boy is able to carry around with him. 

"Thanks to the diagnosis, we discovered that Henry is likely never going to be verbal and that traditional speech therapy wasn't going to work. The device has given Henry his voice."

Henry, now six-years-old, is a happy and social little boy attending mainstream school with full-time support. And while he requires daily therapy and constant care from his dedicated parents, he's making leaps and bounds because his therapies have been adapted to his condition.

"He's just phenomenal," Julie beams. "He works incredibly hard to overcome the challenges and of course, there are tough days. But he is on track now. We would never be where we are without the diagnosis."

The impact of genomics

While genomic testing has helped 1.2 million Australians just like Henry with the treatment and diagnosis of rare diseases, unfortunately more than half of us are unfamiliar with the very concept of genomics.

Stephen Damiani also knows firsthand what it's like waiting in the limbo of non-diagnosis.

The CEO of Mission Massimo and father to Massimo, who sadly passed away in 2017, also pursued the option of genomic sequencing to try and discover the cause of his son's mystery illness. 

"We are just beginning to see the impact of genomics and how it can transform lives," he says. "Above all, looking past the incredible science and technology, genomic testing offers hope to the many families worldwide who may be in the terrible situation that we were once in ourselves." 

Julie is now a strong advocate for genetic testing and very passionate about raising awareness for Glass Syndrome and other rare diseases. Her number one message to other parents who suspect something is wrong is to trust your instinct. 

"If you feel like something isn't right, keep pushing and go and get genomic testing done," she pleads. "Don't wait. Rare diseases are not something to be afraid of."

"In all honesty, after all those years of not knowing, a diagnosis is the best thing that could have happened to our family." 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

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Not only does a diagnosis help the child, but it also helps parents to build a community. Julie has connected with other families living with rare diseases both here in Australia and around the world - and is passionate about supporting others in her position.

She's attending a conference in the US in July organised by the SAT2B Foundation and and has also involved in a local group known as 'Syndromes Without a Name' based in Melbourne.

"We are all on our own journey, but I no longer feel so alone," says Julie.  

"I just want to help people. We need to have open conversations about rare diseases and kids with special needs. There is nothing to fear." 

Rare Disease Day is on February 29. Find out more about how you can get involved at www.rarediseaseday.org