News That Matters

Tag: rare disease

B.C. expands children’s access to ‘transformational’ cystic fibrosis drug
Global News

B.C. expands children’s access to ‘transformational’ cystic fibrosis drug

A week after a B.C. family went public with its plea for a life-changing drug for their son with cystic fibrosis (CF), the province has announced it is making Trikafta more widely available. Ten-year-old Oliver Narciso’s lung functions have been deteriorating since last year, and his family told Global News they were considering moving to Ontario in order to access the drug, which has been called “transformational” for CF patients. Read more: ‘Frustrating’: Family urges B.C. to fund new drug for young kids with cystic fibrosis Read More ‘Frustrating’: Family urges B.C. to fund new drug for young kids with cystic fibrosis Until now, the drug has only been covere...
Ontario family seeks answers, treatment for child’s rare genetic disease
Global News

Ontario family seeks answers, treatment for child’s rare genetic disease

In less than a year, the parents of an Ontario toddler said they have watched as their daughter has lost all of her fine and gross motor skills and can no longer walk or sit up. “Her (fourth) birthday is in October. We don’t know what’s going to be going on then,” said Avery Vlogiannitis’ mother Jonelle.In 2021, after many doctors’ appointments, therapist appointments, MRIs, bloodwork and genetic testing, Avery was diagnosed with Spinocerebellar Ataxia type 28, or SCA28, a rare, neurodegenerative genetic disease.“Her genetic specialist at SickKids explained it to me and said ‘it’s very slowly degenerative … you might not even see a change in Avery for quite a long time’ and out of all the people she knows, it won’t start ’til adulthood,” recalled Jonelle.Avery has proven to be the...