Every year, fathers are faced with the challenge of finding medical treatments for their children’s rare diseases. For some, the answer is to take matters into their own hands and develop the treatments themselves. This is the story of three fathers who did just that.
The Scale of the Problem
Rare diseases, defined in the U.S. as any condition affecting fewer than 200,000 people, are collectively not rare at all. According to the National Organization for Rare Disorders (NORD), 1 in 10 Americans lives with a rare disease, totaling more than 30 million people. Half of these are children.
The numbers get bleaker from there. Of more than 10,000 known rare diseases, fewer than 5% have an FDA-approved treatment. The average time for a family to receive an accurate diagnosis is 4.8 years, years during which a child may be deteriorating and families are searching for answers that often don’t come.
Terry Pirovolakis and the Race to Save Michael
Terry Pirovolakis’s son Michael was diagnosed with Spastic Paraplegia Type 50, a rare neurodegenerative disorder. The doctors told Terry and his wife Georgia to go home, love their son, and give him the best life possible. There was nothing available to prevent what was coming. But Terry was not one to accept that answer.
Within weeks, he and Georgia had launched CureSPG50, a nonprofit aimed at funding gene therapy research for SPG50. They raised money any way they could and cold-called researchers. Terry, who had no background in pharmaceutical development, taught himself enough molecular biology to have credible conversations with scientists who did.
John Crowley and the Blueprint That Started It All
John Crowley’s daughter Megan and son Patrick were diagnosed with Pompe disease, a severe neuromuscular disorder. The Crowley family was told both children would likely not survive to adulthood. Crowley, who had a law degree from Notre Dame and an MBA from Harvard Business School, had been building a career in pharmaceutical marketing at Bristol-Myers Squibb. He walked away from it and poured his life savings into a new biotech startup called Novazyme Pharmaceuticals.
Novazyme went from a $1 million angel round to $27 million in venture capital and was ultimately acquired by Genzyme Corporation for nearly $200 million. The enzyme replacement therapy that came out of that work, Myozyme, later redeveloped as Lumizyme, saved Megan and Patrick’s lives.
Matt Might and the Blog Post That Found Nine More Patients
Matt Might’s son Bertrand became the first known person in the world to be diagnosed with NGLY1 deficiency, a condition so newly identified that it didn’t yet have a name, a research community, or any treatment pathway whatsoever. Might was a tenured computer science professor. He wrote a detailed blog post, ‘Hunting Down My Son’s Killer,’ describing Bertrand’s symptoms, genetic findings, and the biological mechanism of NGLY1 deficiency.
Within 24 hours, the post had gone viral. Within 13 months, it had helped identify nine more children with NGLY1 deficiency. A patient community formed. Researchers volunteered their time. Funding materialized.
Original reporting: Texarkana Gazette — read the source article.
