Sopnie and her perfect study-mate Maisy

At 18-years-old, Sophie is a familiar, friendly face at the Queensland Children’s Hospital (QCH).

In fact, her journey with QCH staff outdates the building itself, having begun infusions at the Royal Children’s Hospital at just 3-years-old, moving over when the QCH opened its doors in 2014.

“I was diagnosed with Maroteaux-Lamy Syndrome or Mucopolysaccharidosis (Type 6) at 14 months old,” Sophie said.

Sophie's is a rare degenerative condition that affects her tissues, organs, joints and bones.

She's missing an enzyme which requires weekly enzyme replacement therapy infusions.

“I also have difficulty walking and use an electric wheelchair,” she said.

“I have dwarfism, and one of the biggest challenges, is also finding age-appropriate clothing.”

Skeletal abnormalities are also common in her condition.

“I’ve had 16 surgeries so far,” Sophie said.

“I have four-hour weekly enzyme replacement therapy infusions and many other specialist appointments, including weekly physiotherapy sessions to keep me strong and healthy. All of these will continue into my future.”

That future looks bright for Sophie, who’s always worked closely with her medical team to be aware and informed about her condition, and its ongoing treatment.

She said this has always helped reduce her anxiety.

“Since I was young, I have always liked to know what is happening or going to happen to me medically. I am more comfortable in medical situations when I can have as much control as possible,” she said.

Through challenges she’s faced, Sophie has also found opportunity, starting a business designing age-appropriate clothes for people with dwarfism.

She hopes to develop her business into the future, alongside her university studies. Sophie is currently enrolled full time, studying a Bachelor of Social Work at the Queensland University of Technology in Kelvin Grove.

She’s also found the perfect study-mate in Maisy, her toy cavoodle.

Last updated: June 2024