Sasha realised something wasn’t right when her little boy, Quinn, couldn’t turn his head at the sound of his name.

While Quinn’s baby clinic checks were all clear, other symptoms like his inability to crawl or walk forced Sasha to seek answers.

Quinn was diagnosed with Mucolipidosis type IV (ML4) at two years old. Following a year-long wait, Sasha was upset yet relieved with Quinn’s diagnosis—saying she now had something to work with.

“Initially I was concerned but being a school teacher, I am extremely aware of how beneficial early intervention can be,” Sasha said.  

ML4 is a rare genetic condition which affects one in 40,000 people. The disease delays the development of mental and motor skills, preventing sufferers to conduct basic activities like sitting, standing, walking, and grasping objects.

Other implications include limited speech and weak muscle tone, leading to difficulties in chewing and swallowing. While it is difficult for Quinn to do everyday activities like other children, he is a cheerful five-year-old boy.

Quinn’s disease has made his family more appreciative of the little things when they’re together.

“We don’t sweat the small stuff. Instead we try to appreciate everything and are grateful every time we hear his chuckle.”
“He has a wicked giggle and infectious smile, clearly loves his siblings, and enjoys listening to Top 40 music, and eating hot chips,” Sasha said.

Currently, there is no cure for ML4, but Sasha hopes for a future where her son, and those living with the disease, can be treated.

“Science and medicine is moving so quickly, especially since genotyping. We live in hope that something will become available in Quinn’s lifetime.”  

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