families step up to find gene therapies for diseases too rare for research firms - 2024
shot for the globe and mail
words by carly weeks
Almost as soon as Stephanie Telesca’s daughter was born in February of 2021, the inconsolable crying began. Doctors reassured Ms. Telesca and her husband, Christopher Espana, that it was likely just due to reflux and that Eliana would grow out of it.
But as the sleepless nights dragged on, Ms. Telesca became increasingly worried that something much more serious was wrong. There was no eye contact or playful smiles. Eliana didn’t reach for her parents’ faces or appear to take any joy in her surroundings.
“It was crushing to live every day,” Ms. Telesca, who lives in Toronto, said in an interview.
When she was nine months old, they got the news: Eliana had an extremely rare genetic disorder.
Ms. Telesca, who works in prenatal diagnostics at Toronto’s Mount Sinai Hospital, was more aware than most of the range of rare genetic diseases that affect children.
According to the Canadian Organization for Rare Disorders, one in 12 Canadians live with a rare disease, with children making up two-thirds of those affected. Scientists have identified more than 7,000 rare diseases, the vast majority of which are genetic in origin. Eliana was diagnosed with KCNC1 developmental and epileptic encephalopathy (DEE). It’s caused by a genetic mutation that leaves individuals with a variety of impairments, including seizures, intellectual delays and vision problems.
Ms. Telesca’s medical knowledge didn’t give her an advantage when it came to finding treatment. Like many other parents of children with rare diseases, Ms. Telesca quickly realized that few research dollars are dedicated to studying ultrarare conditions that only affect a handful of individuals. There’s little financial incentive for companies to spend tens of millions – or more – knowing they will never recoup the costs.
Parents and parental advocacy are now crucial to the development of new therapies, said Ronald Cohn, president and CEO of Toronto’s Hospital for Sick Children. “They have become an incredibly critical partner of this entire industry of research and drug development.”
When Ms. Telesca ventured into this new world, she soon connected with a fellow Torontonian who has become something of a legend in the world of pediatric rare diseases. In 2019, Terry Pirovolakis discovered that his son, Michael, age one, had an extraordinarily rare condition called spastic paraplegia type 50 (SPG50), a progressive neurodegenerative disease that causes developmental and intellectual delays, seizures, low muscle tone and typically robs individuals of their ability to walk and talk. Michael is the only known SPG50 patient in Canada.
