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June 8, 2023


How Do We Treat the Untreatable?  
SickKids VS Rare Disease

Five-year-old Michael is one of less than 100 people in the world with SPG50, an ultrarare genetic disease. In March 2022, a SickKids team dosed Michael with the first-ever gene therapy for SPG50 in an unprecedented clinical trial. We tell the remarkable story of what it took to deliver a customized drug for Michael’s particular genetic variant, and what it means for SickKids’ vision of precision medicine. 

Michael with his mom, Georgia. It took a year for Michael to get a diagnosis, and three years to get him a treatment.

When Michael was around four months old, his parents noticed he wasn’t lifting his arms or grabbing for toys. So began the diagnostic odyssey.
WSPG50 is a neurodegenerative disorder, which means as Michael grows, he’ll lose function of his limbs and experience cognitive decline.

Michael’s dad, Terry, led a three-year quest to get a drug made for Michael and other kids with SPG50.


Michael does regular physiotherapy to keep his limbs strong and hopefully stave off the progressive spasticity that comes with SPG50.

Dr. Jim Dowling, SickKids Neurologist and genetic scientist who led Michael’s unprecedented clinical trial.
Dr. Jim Dowling and some of the clinical trial team on the momentous day of Michael’s dosing.



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About the Host: Hannah Bank

As a SickKids Foundation writer, Hannah works closely with world-renowned SickKids scientists, physicians, and researchers, turning dense medical jargon into engaging content about the latest research and treatments for kids. She’s inspired by the hope and perseverance of young patients and their families, a fantastic team of colleagues, and her three young girls at home.

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