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New test for rare childhood diseases saves precious time

World Rare Disease Day Feb. 28 helps raise awareness and support for the millions living with rare diseases
February 23, 2015

Rachael O'Neill and her son Enzo with Dr. Francois Bernier, who is investigating a better way to test for rare diseases.

Enzo O’Neill has a rare genetic disorder which affects his heart, muscles, joints and lungs. At only two years old, he’s undergone hundreds of medical tests, many of them painfully invasive.

Rachael O’Neill is Enzo’s mother. She’s taken her son to the Alberta Children’s Hospital almost every day since he was born so doctors could try to diagnose and treat the origins of his illness.

“They [the community of geneticists] have never seen anyone like Enzo before. Even after hundreds of medical tests we didn’t have a great picture of what was wrong. The biggest worry was that he might have one of a couple of disorders that are often fatal before children reach the age of four,” she says.

To find a diagnosis for his condition, Enzo was enrolled in a Canadian research study using rapid DNA sequencing and analysis at the Alberta Children’s Hospital Research Institute (ACHRI). His genes were tested against every human genetic disorder known to science — all 4,800 of them. This analysis gave Enzo’s medical team a more accurate description of the genes causing his condition. The testing ruled out fatal disorders and opened the door to new treatment options for him and his family.

Rare Disease Day raises awareness 

Here and around the world Feb. 28 marks Rare Disease Day, giving communities an opportunity to raise awareness about research and support the many families affected by these diseases.

In Canada, nearly three million Canadians are affected by a rare disease. Until now, Calgary researchers could only test children, like Enzo, for one genetic disorder at a time. The process was time-consuming and costly, leaving many families without answers for years.  

“We have thousands of genes, and we’d have to choose one at a time and send it out and then wait for months to try to get an answer. It was time-consuming and would cost thousands of dollars,” says Dr. Francois Bernier, lead investigator in the study, head of the Department of Medical Genetics at the Cumming School of Medicine and section chief of Clinical Genetics at the Alberta Children’s Hospital.

New diagnostic tests and treatments

“Having rapid analysis of rare genetic conditions is so important in delivering better care for children.  We can now provide some knowledge which proves so critical to these families. Without the research here at the Alberta Children’s Hospital Research Institute, this knowledge would not exist.” says Bernier, who works in collaboration with other researchers at ACHRI studying the biological basis of rare diseases and developing new diagnostic tests and treatments.  

“For Enzo, it’s telling us more about his condition than we’ve been able to learn since his birth,” says Bernier.

For Enzo’s mother, it is hope. “This gives us a future, allows us to live together and enjoy each other and stop counting the minutes,” she says. 

This research is supported by the national Care for Rare program designating Calgary as a centre for human genomic research and the Alberta Children’s Hospital Foundation.

Students interested in learning more about genomics and supporting rare diseases can contact ACHRI or see the Rare Genomics Institute University of Calgary a local chapter of university students on campus raising awareness.