Saanich News, January 02, 2015

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Woman with rare disease ‘sews’ a few good deeds Effects of relatively unknown mitochondrial disease life-changing for Saanich woman Daniel Palmer News staff

Christine Knox can no longer do many simple activities like walk to the store or go for a drink in the evening, but she hopes to support others suffering from the same complex disease through her passion for quilting. Knox battled constant migraines, an irregular heartbeat, muscle pain and fatigue for years before doctors discovered she suffers from mitochondrial disease, a debilitating condition where the energy powerhouses of the cells degrade or stop working altogether. “I was sleeping sometimes up to 15 hours a day. It was like having the flu all the time and never recovering,” says Knox, who now takes a strict vitamin and pharmaceutical cocktail to manage her symptoms. Mitochondrial disease includes a variety of genetic mutations in the mitochondrial DNA that can lead to seizures, hearing loss, heart problems and even respiratory failure. One in 6,000 Canadians suffer from the disease but less than 10 per cent are diagnosed, according to MitoCanada, a registered charity that provides awareness and support for both patients and researchers studying its effects. Prof. Francis Choy, a human geneticist and member of the University of Victoria’s Centre for Biomedical Studies, is one of those

Daniel Palmer/News staff

Christine Knox sits at her sewing machine with a near-finished quilt, destined for a patient with mitochondrial disease somewhere in Canada or the U.S. Knox started Quilts for Hope last year after she discovered she suffers from mitochondrial disease, which affects between one in 10,000 to one in 15,000 Canadians.

Did you know? n Mitochondria are responsible for creating more than 90 per cent of the energy required to sustain life and support growth in the human body. n Mitochondrial disease arises when mutations occur in the mitochondrial DNA. Those mutations can be inherited or occur spontaneously. n Defect in the mitochondrial DNA can lead to damage of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. n There is no cure for mitochondrial disease. researchers fascinated by the disease and seeking treatments. Choy estimates between one in 10,000 and one in 15,000 people are born with a mitochondrial disease, though he stresses that number is still an educated guess.

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There’s no cure for the disease and current treatments are limited to managing symptoms and slowing disease progression, he said. “It’s a complicated diagnosis but it can be done if the practitioner is

competent,” Choy said. The disease is terrible in the worst manifestation, but fortunately many mutations fall below a threshold that still allows patients to live relatively productive lives, albeit with limited activity, he added. In September, Choy and honours thesis biology student Kelly Turner published a paper in the Journal of Molecular and Genetics Medicine examining the current methods to prevent transmission of mitochondrial DNA defects from mother to child, a developing field of biomedical research that includes genetic diagnosis.

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