Rare Disease
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New rare disease discovered in teen brothers at BC Children’s HospitalDr. Stuart Turvey said the children's clinicians approached the Precision Health Initiative at the BC Children's Hospital two or three years ago, puzzled by the unknown conditionHealthFeb 14
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Montreal researchers join international study of rare genetic disease Friedreich’s ataxiaFriedreich's ataxia is more prevalent in Quebec and in Acadian regions of the Maritimes, home to the descendants of many people from western France, according to researchers.HealthAug 16, 2023
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Cyclist pedals across Canada to raise funds, awareness about genetic diseaseOne man is cycling across Canada to raise awareness around access to treatment for Spinal Muscular Atrophy, a genetic disease that affect's a person's ability to move.CanadaJul 9, 2023
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DNA mashup: How these babies in the U.K. were born with 3 parentsBritain’s Human Fertilization and Embryology Authority said fewer than five babies have been born this way in the U.K. but did not provide further details.HealthMay 10, 2023
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Family trip around world for Canadian kids losing vision has ended. Here’s what happenedEdith Lemay and Sébastien Pelletier took their young family on the journey of a lifetime after learning three of their children will eventually lose their eyesight.CanadaApr 26, 2023
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Vancouver Island homeless population grappling with rare bacterial infectionHaemophilus Influenzae Type B (HIB), which is not related to the influenza virus, has infected at least eight unhoused people on Vancouver Island and led to at least one death.HealthDec 5, 2022
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Family of 6-month-old Toronto baby girl pleads for live liver donor to save her lifeA family from Bangladesh, is encouraging people to consider living organ donations as they wait for their young daughter to get a liver transplant that could save her life.HealthOct 12, 2022
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Quebec family funds medication trial for mitochondrial disease as son fights illnessEight-year-old Liam Reason is now taking medication, as part of a trial at the Montreal Children's Hospital. Other patients are from North and South America and even Australia.HealthSep 10, 2022
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B.C. expands children’s access to ‘transformational’ cystic fibrosis drugUntil now, Trikafta has only been covered for patients aged 12 and over, and without coverage the drug costs $25,000 per month.HealthSep 7, 2022
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Ontario family seeks answers, treatment for child’s rare genetic disease'Her birthday is in October. We don't know what's going to be going on then,' said Jonelle Vlogiannitis of her daughter Avery's degenerative disease.HealthAug 16, 2022
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