Rare Disease
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B.C. ending rare drug coverage means girl will ‘suffer horrifically,’ family saysCharleigh Pollock, 9, is being treated for a terminal neurological disorder known as Batten disease with twice-monthly infusions of a drug that costs about $1 million per year.HealthFeb 11, 2025
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Sask. mother shares experience with daughter’s ‘extremely rare’ genetic mutationLayna Lou Gardiner is an 18-month-old girl who was born with a rare gene mutation on the PBX1 gene that affects almost all of her organs.HealthJan 28, 2025
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Sask. family takes it ‘one day at a time’ after son’s diagnosis: Sanfilippo syndromeEmmett Doucette's parents thought he might have autism. He was diagnosed instead with a disorder called Sanfilippo syndrome. The family now makes the most of its time together.HealthAug 9, 2024
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Alberta family fundraises for robotic walker for daughter with rare disorderEmma Shingleton, 5, is living with a rare disease that impedes her ability to walk, talk or feed herself. Her family is fundraising for a Trexo walker to help.HealthJul 18, 2024
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Gene therapy halts progression of rare neurodegenerative disease in Toronto boyThe findings from a single-patient gene therapy trial at The Hospital for Sick Children show promise in halting the progression of a young Toronto boy's rare disease.HealthJun 29, 2024
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Alberta boy embraces Curly Hair Day while living with rare disorderFewer than 100 people in the world are diagnosed with giant axonal neuropathy (GAN), two in Alberta. Curly Hair Day is dedicated to raising awareness about the rare disease.HealthMay 3, 2024
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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, 2024
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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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