Ontario family seeks answers and treatment for rare childhood genetic condition
In less than a year, the parents of an Ontario toddler said they saw their daughter lose all her fine and gross motor skills and could no longer walk or sit up.
“His (fourth) birthday is in October. We don’t know what will happen then,” said Jonelle, Avery Vlogiannitis’ mother.
In 2021, after numerous doctor’s appointments, therapist appointments, MRIs, blood work and genetic testing, Avery was diagnosed with spinocerebellar ataxia type 28, or SCA28, a rare neurodegenerative genetic disorder. .
“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 in everyone she knows. , it will only start in adulthood,” Jonelle recalls.
Avery turned out to be the exception.
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“I noticed that she had trouble grasping the toys, she couldn’t hold them for long, sometimes she would fall. I thought she was just silly the first few times it happened because she’s always laughing and has a smile on her face and then from there it just became that she couldn’t get up and go brush teeth, couldn’t hold the toothbrush,” Jonelle said.
In just a few months, many of Avery’s life skills disappeared.
“His neurologist at SickKids and the pediatrician told us it was the start of his illness. They couldn’t believe it started when they were two years old… unfortunately over the next two months it went away very quickly,” she said.
SCA28 is a degenerative disease for which there is no cure.
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Avery’s latest challenge has been to eat. In April, she underwent surgery to insert a feeding tube that leads directly into her stomach. She is strictly on toddler formula and her parents have been told this will continue for the rest of her life.
Avery’s parents said they struggled with the unknown.
“His doctors said to us, “I know you keep asking, what’s the next step? “…And they all said, ‘you have to be prepared that your time with Avery is very limited’ and they said that, unfortunately, his lungs will probably affect him next, and then his heart,” Jonelle cried.
The family launched a GoFundMe campaign, Fight for Avery Vlogiannitis, hoping to raise $250,000 for medical equipment not covered by government funding or private insurance and a home nurse, the costs associated with the encounter with physicians outside of Canada and the search for possible treatments. , such as gene therapy.
“Some pharmaceutical companies have told me it could take five to ten years and some people have had gene therapy in three years. So we’re just going to play day to day, deal with it day to day…if there’s has a pharmaceutical company that wants to do this and try to save his life, that’s all we can try to do,” said Avery’s father Tony Vlogiannitis.
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Researchers suggest that gene therapy can replace faulty or missing genes with the goal of curing disease or improving your body’s ability to fight disease.
In the meantime, the family hopes sharing their story will shed light on what’s next.
“I just hope someone has experience with this or can just provide some insight, whether it’s medicine or gene therapy,” Jonelle said.
“Maybe there’s someone who has a doctor who’s treated this who could just shed some light on that so the unknown as to what’s going to happen next week or next month isn’t going to just punch us in the face all of a sudden.”
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