Dad's determined fight to save son with rare illness leads to lifesaving impact on other kids

Most parents will do anything to keep their children healthy, but one Canadian father faced an especially daunting challenge. His son was battling a rare, terminal illness with no cure. Determined to change that, Terry Pirovolakis went all in to find a solution, according to Fox News Digital. He and his wife, Georgia, welcomed their third son in December 2017. Although the boy initially seemed healthy, he soon began experiencing developmental delays.

"He just didn’t seem like he was meeting his milestones," Terry explained, noting how the baby, Michael, hadn't started lifting his head even at six months old. The parents consulted doctors and after quite a few tests the baby was diagnosed with SPG 50 or spastic paraplegia 50. SPG 50 is a neurological disorder that affects the child's development and eventually leads to paralysis. Fewer than 100 people around the world have the disease and the life expectancy with it is around 20 to 30 years without treatment. "They told us to just go home and love him — and said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20," the dad disclosed.

"They said he’d never walk or talk and would need support for the rest of his life." However, the dad refused to give up. The father focused on finding a gene therapy that could help cure his son. The family went to a gene therapy conference in Washington DC to interact with experts. The dad also went to the National Institutes of Health at the University of Cambridge, where there was ongoing research about the illness. "We then liquidated our life savings, refinanced our home and paid a team at the University of Texas Southwestern Medical Center to create a proof of concept to start Michael's gene therapy," the man recounted. After a few tests, the drug was able to stop the progression of the disease in mice and human cells, so the dad worked with a company in Spain to manufacture the drug.

In December 2021, the drug was approved by Health Canada for the baby's gene therapy. "On March 24, 2022, my son was the first person to ever get treated with gene therapy at SickKids in Toronto," Pirovolakis recalled. Soon enough, Michael started showing improvements because of the drug, the treatment was working. The process involves injecting a cerebral spinal fluid through a lumbar puncture. However, after his son had received the treatment, the dad found out that there were three doses left. "When I heard that no one was going to do anything about it, we decided that we had to help other kids." The man opened up a phase 2 study and helped treat three children in two years, the youngest one being six months old.

However, treatment remains difficult to access, as each dose costs $1 million, and the procedure adds another $300,000, according to Pirovolakis. The dad quit his job and started Elpida Therapeutics, as per the Good News Network after the initial trial ran out of money and they couldn't find investors as the disease is rare and wouldn't bring in much money. "The treatment is here, just literally sitting in a refrigerator, ready to go," Rebekah Lockard, whose 3-year-old daughter suffers from the same illness expressed. "Doctors are ready. There just isn’t enough money to make it happen." Pirovolakis hopes that an investor will come along at some point because the treatment has been so successful.