‘Moving mountains’ for a cure

At first glance, Michael Pirovolakis, an 18-month-old with bright blue eyes and an infectious smile, looks like any other child. But unlike most children, he will begin to display major developmental delays within the next year, and by age 10, he will be paralyzed from the waist down. To give their son a chance, Terry Pirovolakis and Georgia Kumaritakis are seeking donations that will fund Michael’s $3 million gene therapy treatment.

Michael was diagnosed with a rare degenerative disease only known to affect 57 others in the world in April. The disorder, a form of hereditary spastic paraplegia known as SPG50, is the result of a missing protein in the AP4M1 gene. In simpler terms, the condition is a combination of progressive cerebral palsy and Parkinson’s disease, Terry explained in an interview with Kathimerini English Edition. Michael is the only person who has been diagnosed with SPG50 in Canada.

Due to the rarity of Michael’s condition, drug companies do not have a financial incentive to build him a treatment, so Terry and Georgia have taken matters into their own hands by raising money for Michael’s lifesaving drug, a process that will ultimately cost $3 million. Working with doctors at the University of Texas Southwestern Medical Center, Terry and Georgia must raise the money to build the drug, complete a toxicology study, send the treatment to the US Food and Drug Administration (FDA) for approval and begin a clinical trial. “We are moving mountains to save Michael,” Terry said. “The thought of my son falling apart is something I can’t live with.”

Terry and Georgia’s GoFundMe campaign, launched in May, has already amassed more than $400,000. In addition to the campaign and community-organized fundraisers, Michael’s parents have remortgaged their home and liquidated their pensions.

“One day I was sitting at work and I was thinking there’s no way we’re ever going to make $3 million and I didn’t want to stop the progress of building this cure. So I went to my bank and I said, ‘Take everything out,’” Terry said. “A lot of people would probably be upset about that, but it was actually one of my happiest days because I was able to help my boy.”

Georgia first became concerned when she noticed Michael wasn’t reaching up like most children his age. His early doctor visits revealed that he had low muscle tone and microcephaly, a brain disorder which causes children to have small heads. It was only after full genome sequencing that Michael was diagnosed with SPG50. He has suffered three life-threatening seizures since his diagnosis and has been given a year and a half before his developmental delays become more severe.

Michael’s potential treatment would require researchers to insert functional copies of the AP4M1 gene into his brain cells through a virus. Though the drug is not a guaranteed cure, it is the best shot for Michael in his current condition, according to Terry. By helping their son, Terry and Georgia will fund a clinical trial in which seven to 22 other children with SPG50 can enroll.

“Of the children that are within the age that can be helped, most of them are in poorer countries like India or Pakistan or Syria or Lebanon or Greece, where people can’t afford to raise money,” Terry said. “We’re curing more than just Michael.”

In Greece alone, three siblings have been diagnosed with SPG50. Because genome sequencing is a relatively new process, it is believed that more people around the world are living undiagnosed with the disease.

The Pirovolakis family hopes to reach their $3 million mark before Michael’s neurological regression is too severe for treatment. “We need help from the world. We’re not going to get there from just Canada. We need everyone in the world to help us,” Terry said.

Michael’s GoFundMe page can be found at www.gofundme.com/f/CureSPG50.