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

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WATCH: Parents of child with rare genetic disease seek answers – Aug 16, 2022

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 exception.

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Read more: ‘Uncharted territory’: Toronto family of child with rare disease raises $3M for therapy

“I noticed she was having trouble grabbing the toys, she couldn’t hold them for a long time, sometimes she would fall over. I thought she was just being silly the first few times it happened because she’s always laughing and has a smile on her face and then from there it became she can’t stand up and brush her teeth, can’t hold the toothbrush,” said Jonelle.

Within just months, many of Avery’s life skills disappeared.

“Her neurologist at SickKids and the pediatric doctor told us it’s the onset of her disease. They couldn’t believe that it had started at two years old … unfortunately, over the next couple of months, it’s gone very rapidly,” she said.

SCA28 is a degenerative condition for which there is no cure.

Read more: ‘No cure’: Toronto family of toddler battling rare, new disease raises funds for research

Avery’s latest challenge has been eating. 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.

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Avery’s parents said they struggle with the unknown.

Her doctors told us, ‘I know you keep asking, what’s next?’ … And they all said, ‘you need to be prepared for the fact that your time with Avery is very limited’ and they said that, unfortunately her lungs probably will affect her next and then her heart,” cried Jonelle.

The family has launched a GoFundMe campaign, Fight for Avery Vlogiannitis, in hopes of raising $250,000 for medical equipment not covered by government funding or private insurance as well as a home care nurse, costs associated with meeting doctors outside of Canada and research into possible treatments, like gene therapy.

“Some pharmaceutical companies told me that it could take five to 10 years and some people have gotten gene therapy in three years. So we’re going to just play it day by day, deal with it day by day … if there’s a pharmaceutical company that wants to do that and and try to save her life, that’s all we can try to do,” said Avery’s father Tony Vlogiannitis.

Read more: ‘A deck of cards no one should be dealt’: Ontario siblings fight rare disease, hope for cure

Researchers suggest gene therapy can replace defective or missing genes in an attempt to cure disease or improve your body’s ability to fight disease.

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In the meantime, the family is hoping sharing their story will shine a light to go forward.

“Just hoping that somebody has some experience with this or can just provide some insight, whether it’s medicine or gene therapy,” said Jonelle.

“Maybe there’s somebody who has a doctor who has dealt with this who could just shed some light on that for us so the unknown as to what’s going to happen next week or next month is not just going to hit us in the face all of a sudden.”

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