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Tag: Spinocerebellar ataxia 28

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...