Toronto family hoping to raise $3 million to cure their baby boy’s ultrarare disease

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Toronto family hoping to raise $3 million to cure their baby boy’s ultrarare disease


A family from East York is leaving no stone unturned in their quest to help their 18-month-old son, who has an extremely rare neurodegenerative disease.

On April 2, 2019, the Pirovolakis family — dad Terry, mom Georgia, daughter Zoe, 8, and son Zach, 5 — learned that the youngest member of their family, Michael, has hereditary spastic paraplegia type 50, SPG50 for short.

He is believed to be the only person in Canada to have this ultrarare genetic disorder. Worldwide, there are only 57 known cases of SPG50.

“That day our life changed dramatically,” Terry Pirovolakis shared during an interview at the family’s home in Topham Park.

He said they first realized something wasn’t quite right with their son when he was about six months old.

“We noticed he wasn’t lifting his hands, and that was pretty much our trigger,” he said.

A series of tests determined that Michael has hypotonia (low muscle tone) as well as microcephaly, a condition where an infant’s head is smaller than that of children of the same age and sex. A followup MRI concluded that Michael had some very mild brain development delays. It was genetic testing that led the family to learn exactly what was wrong with their son.

“It was a shock to all of us,” said Pirovolakis, who with his wife immediately sprung into action to find out what could be done to help their son.

Physiotherapy has helped a little bit, but what the East York family wants is to stop the progression of Michael’s disease, which causes severe developmental delays, progressive weakness and stiffness of the legs, and paralysis by the age of 10.

In the days following the devastating diagnosis, the Pirovolakis connected with a family in Boston who has a daughter with a similar disorder known as SPG47. That family must raise $3 million (US) to pay for genetic therapy to replace their child’s mutated gene and possibly cure her.

The Pirovolakis family is looking to fund a similar type of treatment for SPG50. So far, they’ve raised more than of $400,000 through a GoFundMe page and on their website, curespg50.org.

“Complete strangers are showing up at our door. It’s unbelievable,” said Pirovolakis, who teared up thinking about how many supporters have come forward to help his son.

“We feel overwhelmed, so emotional. (The support and kindness) lifts us a lot.”

On Sunday, the family will be holding a fundraiser at Brunswick Bierworks in East York and are accepting donations for a bake sale and silent auction.

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Joanna Lavoie is a reporter with toronto.com. Reach her via email: jlavoie@toronto.com





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