Dad Successfully Finds a Cure for Son’s Rare Neurological Disease. Now Other Parents Are After the Drug

In late 2018, Terry Pirovolakis and his wife Georgia welcomed their third son, visualizing happy dreams for their family’s future. Six months later, by the summer of 2019, the couple's newborn, Michael, seemed somewhat different. He was not lifting his head, crawling on the floor, or showing any usual signs of growing up like other babies. Doctors told Terry that Michael was suffering from a rare, incurable disease that would render him paralyzed for the rest of his life. Terry however refused to accept the devastating fate of his son. So, he set out to develop a cure, all by himself and rewrite his son’s destiny, as reported by Fox News Digital. 

It was April 2019, and after months of doctor visits, physiotherapy, and gene therapies, a neurologist had diagnosed Michael with “spastic paraplegia 50 (SPG50),” a rare neurological disease that leads to the spasticity of legs, intellectual impairment, speech impairment, and muscle weakness. As a result, the child has to rely on a wheelchair for life. The disorder is considered rare as it occurs in just about 80 people worldwide. "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," Terry who shares Michael's journey on the Instagram handle @cure_spg50 told the news channel.

"Children with SPG50 may experience early developmental delays, muscle weakness, and spasticity, but they continue to strive and adapt," Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services, told the media channel. Penney added that over time the symptoms can worsen and so, it requires a comprehensive, multidisciplinary approach to deal with the condition. Terry plunged into the realm of science to dig out a cure that could change Michael’s fate. “If there’s something important to you and you’re willing to risk your life for, then you just can’t give up on it,” Terry said, according to The MedGen Project. The doting father started on the mission by researching the subject of gene therapy that could treat this condition.

Terry attended a gene therapy conference and interacted with several experts at the National Institutes of Health who had been studying the disease. "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," he said. When initial experiments on mice and human cells proved to be successful, Terry immediately contacted a drug-manufacturing company in Spain, who then started developing this life-saving drug. By the end of 2021, he had obtained permission from the medical authorities to proceed with gene therapy on Michael- the first person to ever receive this treatment. It involves injecting cerebral spinal fluid through a lumbar puncture and it worked wonders!

Inspired by his son’s recovery story, Terry continued his experiments to help other kids suffering from this condition. His enthusiasm was boosted when some kids reported positive results from the drug after the trial. One family who go by Lockards even created a GoFundMe page to raise funds for their kids’ treatment who too were diagnosed with the same disorder. Terry revealed that it takes $1 million to make the drug for each child, and a separate $300,000 to treat the patient. Lockards have since raised $147,849.

Meanwhile, Terry quit his job and started a nonprofit in California called Elpida Therapeutics, which is based on the Greek word for “hope.” His company will start the next trial phase in November this year. The company has partnered with the Columbus Children’s Foundation (Fundación Columbus in Spain) and CureSPG50. However, despite every effort, the drug is yet to be approved by authorities. In the end, the cure is there, but not enough money for people to avail the cure. Terry is appealing to authorities to raise funding for treating children with rare diseases. "Someone you know or love will likely be affected by a rare disease,” he said.