A dedicated Canadian scientific team recently made an important discovery that went largely unnoticed by the medical community but it's one that could have an effect on hundreds of Canadians.

Scientists at the Children's Hospital of Eastern Ontario in Ottawa have found a new genetic mutation linked to a rare disorder called Joubert syndrome. Joubert syndrome is a brain malformation marked by the underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination.

The disorder is rare, affecting perhaps only 3,000 children across North America. So studying the condition and understanding its cause has been difficult.

This latest genetic find joins 14 other genetic mutations already discovered in Joubert patients. The hope is that the find will lead to a DNA test that would one day offer an accurate diagnosis for the condition, says Dr. Kym Boycott, the team's lead researcher.

"There are many families living with an uncertain diagnosis, and these are the types of families we are trying to help," says Boycott.

"It is very anxiety provoking for families. They have a child who is not doing what other children that age are doing and no one is giving them an explanation why."

Scott MacLellan was one of those who went undiagnosed for years. From the day he was born, his family and doctors knew something was different about him. He had a cleft palate and an extra finger. He experienced breathing problems and he had such trouble controlling his movements, he couldn't talk or walk until he was six years old.

For most of his 27 years, doctors weren't able to tell Scott or his parents exactly what he had.

"It's frustrating, It's overwhelming," says his mother Andrea MacLellan. "We constantly looked for an answer, and then you just get to a point, when it got to a point when you just stop asking."

Scott didn't let his differences hold him back and nor did his parents, who encouraged his love of comics. Today, Scott is a recent graduate from Algonquin College where he earned high marks in script writing. He hopes to design comics in the future.

Not long after he graduated, Scott finally got his diagnosis: a mild form of Joubert Syndrome. It was confirmed when a specialist matched his symptoms with an MRI of his brain.

"It's a rare disorder," says Scott. "You can get misdiagnosed like I was… with cerebral palsy and ataxia."

The CHEO team's recent genetic finding was discovered with blood samples from some 20 Canadian patients. It's published in the American Journal of Human Genetics. The team is now testing blood samples from children around the world to see if they can make similar findings in children from other genetic lineages.

For Scott, his diagnosis means he can now be properly followed by doctors.

CHEO researchers along with other teams around the world hope to one day develop an accurate prenatal genetic test for Joubert. They also want to develop a diagnostic test to help identify children with all the forms of the syndrome.

That way, children with the condition can be treated earlier with physiotherapy, and monitored for the kidney and vision problems that often come with Joubert.

It would also mean that others won't have to endure a decades-long medical mystery.

With a report from CTV medical specialist Avis Favaro and producer Elizabeth St. Philip