Liam was born with hearing loss and right-sided microtia, a condition where the outer ear doesn’t fully develop, prompting the first of many tests as doctors searched for answers.
A few months later, Liam became critically unwell and was admitted to the Queensland Children’s Hospital. Doctors discovered he had severe dilated cardiomyopathy, meaning his heart had become enlarged and weakened, struggling to pump blood effectively throughout his body.
Doctors ordered genetic testing to find the underlying cause of his health challenges, and soon after Liam was diagnosed with Alström syndrome, a condition so rare it’s estimated to affect just one in a million children.
Alström syndrome is a genetic disorder that can affect many parts of the body including vision, hearing, the heart, kidneys, liver and hormones, with symptoms varying greatly in severity. There is currently no cure for the condition.
“Our lives changed overnight,” Liam’s mum, Alyssa, said.
“There is a level of fear and uncertainty that comes with having a child with a life-limiting rare disease that is hard to explain unless you’ve lived it,” she said.
“So far, Liam has been under the care of cardiology, genetics, audiology and dietetics teams, and we are about to begin care with ophthalmology and endocrinology,” Alyssa said.
“Alström syndrome is a degenerative condition, so his needs and medical care will likely continue to evolve as he grows.”
Now seven months, Liam is hitting his milestones with determination, growing into a cheeky and social little boy who is full of personality.
“He absolutely adores his big sister Delilah and completely lights up when he sees her, which melts us every time.
“There is a lot of uncertainty around Liam’s eyesight and what the future will look like, so those moments feel incredibly special to us,” Alyssa said.
Despite the life-altering diagnosis, Liam’s family have found a new sense of purpose, establishing the charity Alström Syndrome Australia to support research, awareness and connection for other families affected by the condition.
“We want Liam, and every child diagnosed after him, to grow up in a world with better treatments, better care and more hope,” Alyssa said.
“Joy can exist alongside grief and fear. You don’t have to choose one or the other.
“Be kind to yourself, protect your mental health where you can, and take things one step at a time. Lean on the people who love you, ask questions, and don’t lose hope,” she said.