When a Canadian man’s son was diagnosed with a rare fatal disease, he was devastated to learn there was no treatment or cure available — so he decided to find one himself.

An IT director from Toronto, Ontario, Terry Pirovolakis and his wife, Georgia, welcomed their third son, Michael, in December 2017. The birth appeared normal and healthy, but by the time Michael was six months old, the couple noticed something was wrong. Michael wasn’t lifting his head or reaching typical developmental milestones.

After a grueling 18-month period filled with doctor visits, physiotherapy, and genetic testing, the Pirovolakis family received a heartbreaking diagnosis: Michael had spastic paraplegia 50, a neurological disorder so rare that fewer than 100 people worldwide are affected by it.

“They told us to just go home and love him,” Mr. Pirovolakis told Fox News. “They said he would be paralyzed from the waist down by age 10 and quadriplegic by age 20. They said he’d never walk or talk and would need support for the rest of his life.”

SPG50 is a progressive disorder that impairs a child’s development, leading to cognitive decline, muscle weakness, speech difficulties, and, ultimately, paralysis. Most individuals with the condition do not live past their 20s.

Determined to find a cure, Mr. Pirovolakis immediately plunged into research. He focused on gene therapy as a potential treatment for his son. A month after Michael’s diagnosis, Mr. Pirovolakis attended a gene therapy conference at Washington, D.C., met with experts, and visited research facilities at Sheffield, England, and Cambridge University.

“We 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 for Michael’s gene therapy,” he said.

The research yielded promising results, showing that the gene therapy could halt disease progression in mice and human cells. The success led Mr. Pirovolakis to collaborate with a small drug company in Spain for drug manufacturing. On December 30, 2021, Health Canada approved the gene therapy for Michael.

The treatment worked. But no company wanted to make the medicine, which costs $1 million to produce the drug for each child and another $300,000 for treatment in the U.S.

So Mr. Pirovolakis quit his job and established a nonprofit organization, Elpida Therapeutics, named after the Greek word for “hope.” The organization now employs five people and 20 consultants and is preparing for a Phase 3 study at the NIH in November.

Mr. Pirovolakis aims to treat eight children with SPG50 in this upcoming trial. “If we can show that it works in all eight children—and we can prove to the FDA that it is making a difference—then the drug will get approved, and every child can get it,” he told Fox.