Central Queensland's Jelicia Schoeler has a "go bag" packed and on stand-by for emergency medical trips to Brisbane, that's how terrified she is that her son Alfie could need life-saving medical treatment at any time.
Alfie has a rare syndrome that affects his nervous system. His condition is so rare, Ms Schoeler said she only knows of three other people with the syndrome across Australia.
He has had a tumultuous first year of life that required multiple surgeries, and included a diagnosis of blindness.
As Christmas approaches, Ms Schoeler is reminding people of how to interact with children with disabilities such as Alfie's.
While children with different disabilities will respond in different ways, Alfie understands the world through touch.
"Christmas for him isn't about the presents and what's underneath the tree, it's about giving him the sensory input," Ms Schoeler said.
"So singing to him, playing with him, giving him things that make lots of noise and that feel a bit funny … helping him to experience Christmas by feeling and hearing."
A rare syndrome
Alfie was born with L1 syndrome, a congenital disorder caused by mutations in the L1CAM gene.
It mostly affects the nervous system, and is characterised by fluid in the brain and muscle stiffness among other symptoms.
"Alfie has issues with his brain because he has a kinked brain stem, and bodily functions that we take for granted like breathing, heart rate and blood pressure. He has trouble controlling all of that," Ms Schoeler said.
In October, Ms Schoeler flew with her son from Rockhampton to Brisbane through the Royal Flying Doctor Service after the shunt, which reduces pressure in his brain, malfunctioned.
Missed milestones
Ms Schoeler said she struggled with the Christmas season this year, grappling with a sense of loss when buying toys for her youngest child.
"It's been really hard because Alfie already has all the presents he needs," she said.
"There's only so many sensory toys you can buy … but we've come to terms with that."
Ms Schoeler said her son had recently taken to an unusual sound: power drills.
"I've never thought that it would be something that would be funny or exciting but that noise does something for Alfie and he laughs so much," she said.
More understanding
Ms Schoeler wants more people in public, particularly people who stare, to just ask about her son's life.
"I get people who have kids that point to his nasal gastric tube and I tell them, 'that's just how he's fed'," she said.
"It's explaining to young kids, and everyone really, that a person with disabilities is not a scary thing.
