On April 2, 2019, at the age of 15 months, Michael Pirovolakis was diagnosed with an extremely rare degenerative disease called SPG50, caused by a mutation in a single gene.
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The disease has no known cure. At the time of Michael’s diagnosis, doctors told his parents that the disease was fatal and there were no treatment options. SPG50 is neurodegenerative disease, meaning it would slowly take away his cognitive and physical abilities. Most kids with the disease are fully paralyzed and in a vegetative state by the time they’re in their teens, his father, Terry, told People Magazine.
“They basically told us that he would be completely paralyzed and in a vegetable state by his mid-teenage years and to go home and love him,” says Terry, 39. He and his wife, Georgia, who have two older children, 5 and 8, in addition to Michael, let themselves go home and cry. Then, they started researching to find a cure.
SPG50 is an inherited genetic condition. According to the National Organization for Rare Disorders, both parents must pass along a mutated copy of a specific gene, AP4M1, for their child to have the disease.
Because the disease is slowly progressive, children, like Michael, often appear totally healthy at birth. For the first six months of Michael’s life, his parents had no reason to think he was anything other than a typically developing baby. But around six months of age, Terry and Georgia, who live in Toronto, Canada, began noticing that Michael had trouble lifting or grabbing things on his own, which is a typical developmental milestone for a child at that age.
Initially, Michael was diagnosed with low muscle tone and prescribed physical therapy. But shortly after, there was concern that Michael’s head wasn’t growing. Testing followed: “They found that he didn’t have anything major,” Terry told People, “but his brain wasn’t developing the way that it should. We then did genetic sequencing.”
And it’s at that point that they received the devastating news.
But Michael’s parents are refusing to accept that this will be a fatal condition for their son. Terry began meeting with doctors who had expertise in this specific mutation and in June, they engaged Dr. Steven Grey at the University of South Texas, to begin creating a targeted gene therapy that they believe has promise to cure Michael and the 59 other children around the world known to have SPG50.
Michael’s parents are hopeful they’ll win in the race against time. “Sometime between 5 and 10 years of age it [SPG50] takes away the children’s ability to walk,” Terry told People. “And then between 10 and 15 years of age it takes away their ability to use their arms, and then during that period of time their brain is also degrading.”
For now, the family is doing everything they can to help Michael stay on track, despite some recent complications, including a prolonged seizure that landed Michael in the hospital in July. Terry still spends hours every day digging into the research and Michael receives intensive physical therapy. The family hopes that the positive media attention they’ve received will help bring awareness to their cause and close the gap on the funding they need to complete the gene therapy.
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