Child diagnosis: ‘It was the scariest thing that ever happened’: Brisbane couple’s battle to diagnose their son

‘Cocktail syndrome’ isn’t a phrase you might associate with a medically compromised child, but it was the words spoken by Brisbane couple Stacey and Mark Touma during their difficult journey to diagnose their son Alex.

“We started doing Google searches. We were told that was what Alex had and we were handed a page listing all the things he would never do,” said Stacey, 37, at 9Honey.

If you do a Google search on the phrase you’ll find it described as: “a phenomenon of the brain’s ability to focus its auditory attention on a particular stimulus while filtering out a range of other stimuli, such as when a partygoer can concentrate on a single conversation in a noisy room” .

It didn’t sound good to Stacey or Mark, 41, when they first heard about it on forums. Alex would later be diagnosed with William syndrome and intellectual disability.

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Stacey Touma with her son Alex. (Provided)

“Alex loves being around people, which is also difficult because he has a lot of social skills challenges,” she says of her son, who is now 10.

“And he loves to party, especially with adults. My husband is from a big Lebanese family and they know how to party. While Alex didn’t when he was younger for many years years, he certainly does now.”

Possible health issues were first reported during Stacey’s pregnancy with Alex.

“When I was pregnant, they identified he had a heart defect, which was scary, and at that time it was the scariest thing that ever happened,” she says.

Alex in the Sand Podcast NDIS
When Stacey was pregnant, she identified a heart defect. (Provided)

“Fortunately we were in contact with a cardiologist and received incredible medical support. When Alex was born he was closely monitored, but at seven weeks they said they were unsure how long he would survive without surgery.

“At seven weeks he suffered from heart failure and underwent difficult surgery and spent 10 days in hospital.”

Alex recovered from his early health issues, but when he was two and a half months old, his parents realized there might be something else going on. Already parents to Sammy, who had one at the time and is now 11, they noticed that Alex wasn’t reaching the same milestones.

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Stacey and Alex William syndrome
“Alex loves being around people, which is also difficult because he has a lot of challenges.” (Provided)

“They thought it was possible brain damage from the operation,” she recalls.

“He was unresponsive and couldn’t open his hands. He wouldn’t move his head, she was sitting sideways. He was also suffering from reflux so bad his whole body was tensing up, and cerebral palsy was being considered.

“He struggled to feed himself and cried for about 16 months, all day and all night. It just wasn’t normal. And because of his heart condition, he couldn’t be left to cry, so he was tied to me all day slept only two hours a night.”

Afterwards, the couple were told their son had global developmental delay, but after genetic testing, he was diagnosed with William’s Syndrome in addition to his other health issues.

“There is so much more to a child’s story than their diagnosis.”

“They told me he would never live independently or he wouldn’t be independent, he would always need support. That may limit your thinking, but we didn’t let that get in the way of our expectations. or what we thought was possible,” says Stacey.

“He’ll be rolling out bowls, cereal and milk as well as spoons and lunch boxes from the age of eight. He does a lot of things that other kids his age can do.

Alex on an NDIS swing podcast
“They told me he would never live independently or be independent.” (Provided)

“Obviously he has fine motor limitations, but he’ll go out there and try. If he’s hungry, he’ll make himself a grilled cheese and tomato sandwich. It might take him longer and cooking is a bomb site, but he will.”

Alex attends a regular school and is popular among his peers. It has well and truly exceeded all expectations, and Stacey enjoys sharing their story to help other families as they begin their diagnostic journey with their children, and especially those who are told their children’s lives will be severely limited.

Accessing National Disability Insurance Scheme (NDIS) funding can be difficult for many Australian families, but Stacey says they were lucky to be supported by a “great planner” to help them get through. ensure they have financial support to cover Alex’s needs. can reach its full potential.

Stacey and Alex William syndrome
These days, Stacey and Mark know exactly what they need to do for their son. (Provided)

“I’ve worked in the disability field, so I’m lucky to know the lingo, but I’ve had conversations with others and realize how unfair it can be.”

She uses NDIS funding from Alex for therapy supports, access to telehealth for many of her interventions, parent coaching, capacity building, occupational therapy, and a handwriting program.

For those preparing to meet with a planner to access NDIS funding, Stacey suggests writing an impact statement about how caring for their loved one has impacted their lives.

“Paint a picture holistically and write it from your own perspective. Therapy reports are great and so is goal setting, but they don’t address family dynamics and what’s going on within this family.

“Go there by being clear about what you need and what supports you want to access. Also talk to other families about their experiences,” Stacey continues.

A simple way to do this is to listen to the podcast NDIS know-how moderated by Mélanie Dimmittauthor of Special: Antidotes to the Obsessions that Accompany a Child’s Disability, which Stacey is featured on.

Stacey is CEO of Kindred, a non-profit organization that supports families with children with developmental delays, disabilities, and medical needs.

“There is so much more to a child’s story than just their diagnosis. Find out as much information as you can and listen to other families’ stories.

“Keep in mind that we all have different lives and our needs will be different, and bring in the expertise that will help your child.”

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