OntarioParents of a young child reported that within a year their daughter lost all fine and gross motor skills and was unable to walk. He said he saw that he couldn't do it either. get up.
"Her (4) birthday is her October. You never know what will happen then," said Avery Vlogianitis'mother Jonel. rice field.
In 2021, after numerous doctor appointments, therapist appointments, MRIs, blood tests, and genetic tests, Avery was diagnosed with Spinocerebellar Ataxia Type 28, or SCA28. it was done. This is a rare neurodegenerative genetic disease.
"Her genetics specialist at SickKids explained it to me, saying, 'It's going to degenerate very slowly... you might not see any change in Avery for quite some time.' I can't," he said. People she knows don't start until she's an adult," Jonelle recalled.
Avery proved to be an exception.
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I couldn't do it and sometimes I would fall over.I thought she was being silly the first few times because she was always smiling and had a smile on her face but then I stood up and brushed my teeth I couldn't hold my toothbrush anymore".Jonell.
In just a few months, Avery lost many of her skills.
"Her neurologist and pediatrician at SickKids said that was the beginning of her illness. They couldn't believe it started at age 2... unfortunately , it went away very quickly over the next two months," she said.
SCA28 is a degenerative disease with no cure.
READ MORE: 'Incurable': Family of Toronto Toddler Fights Rare New Disease, Raises Research Funds
Avery's latest challenge is eating. In April, she had surgery to insert a feeding tube that went directly to her stomach.
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Avery's parents said they were struggling with the unknown.
"Her doctor told us, 'I know you keep asking, what next?' , ``My time with Avery is very limited,'' they said, unfortunately her lungs will probably affect her heart next. } GoFundMe launched a campaign, Fight for Avery Vlogiannitis, to raise $250,000 for medical equipment, home nurses and expenses not covered by government funding or private insurance. Meet physicians outside of Canada and are associated with research into possible treatments such as gene therapy.
"Some drug companies told me it could take five to ten years. Some people have had gene therapy in three years. So we do that every day. and we're going to deal with it day by day...if there's a pharmaceutical company that's going to do that and try to save her life, that's all we can do," said Avery's father. .
READ MORE: 'Deck of cards that shouldn't be dealt to anyone': Ontario brothers fight rare disease, find cure
Researchers hope thatgene therapy will be used to cure disease or improve the body's ability to fight disease.
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We hope that by sharing your story, you will shine a light that moves forward.
"Whether it's drugs or gene therapy, I hope someone has some experience with this or can offer some insight," Jonell said. } "Perhaps there is a doctor who has dealt with this issue and can shed some light on it for us. The unknown about what will happen next week or next month is for us
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