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Stephanie Telesca and Christopher España with their daughter Eliana España and her younger sister Aurelia España, at their home in Toronto on Feb. 16.Laura Proctor/The Globe and Mail

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.

That’s why many parents are now spearheading very personal efforts to raise money, start foundations, hire teams of researchers and launch public relation campaigns in hopes of drawing attention to the need for more funding for research of rare diseases, as well as the development of gene therapies. In at least one case in Canada, a parent even launched a pharmaceutical company in his efforts to help his son.

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.”

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Eliana España has an extremely rare genetic condition that is caused by a KCNC1 mutation. The mutation impacts the flow of potassium ions into neurons in the brain, which can cause epilepsy and other neurological conditions.Laura Proctor/The Globe and Mail

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.

Like Ms. Telesca, Mr. Pirovolakis set out to become an expert in his child’s disease. A researcher by trade – Mr. Pirovolakis spent his career combing through reports and conducting analyses for large financial institutions – he dove headfirst into any study, report or website connected to SPG50. Within days, he found a family affected by a similar disease and realized that gene therapy was his son’s best hope

While scientists have been studying gene therapy for several decades, major advancements in the past few years mean that it’s becoming more realistic to imagine a future where scientists will be able to add, remove or even edit genetic information in order to treat a multitude of complex rare diseases. Experts who work in the field avoid using the word “cure” and highlight that many gene therapies require long hospital stays and challenging regimens that can include chemotherapy.

For some patients, that reality is here. There are now three treatments for spinal muscular atrophy – the most common cause of genetic death in infants – including a one-time infusion of a replacement copy of the affected gene. In December, U.S. regulators approved two new treatments that signal a potential cure for sickle cell disease. Treatments for a host of other disorders are undergoing clinical trials.

However, if the Pirovolakis family were going to go that route, they knew they would have to raise a literal fortune. Additionally, Mr. Pirovolakis recognized early on in the process that even if they were able to find a potential therapy for Michael, they would need a hospital willing to treat him as a clinical trial of one.

In June 2019, Mr. Pirovolakis attended an event announcing a major donation to Toronto’s Hospital for Sick Children, and took the opportunity then to introduce himself to Dr. Cohn. To this day, the doctor recalls Mr. Pirovolakis’s friendly demeanour and persistence. At a formal meeting between the two a few weeks later, Dr. Cohn agreed to help if Pirovolakis’s efforts bore fruit.

Mr. Pirovolakis quit his job in banking and the family refinanced their home and set out on an ambitious mission to raise funds for a clinical team in Dallas to develop a treatment. They managed to raise $4.5 million and Michael underwent treatment at SickKids in March 2022. It was the first gene therapy clinical trial the hospital had ever conducted that involved only one patient.

“I have a lot of heroes,” Dr. Cohn said. “He’s one of them, Michael’s dad.”

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Michael Pirovolakis plays with his mother Georgia Kumaritakis and his father Terry Pirovolakis, at his physiotherapy appointment at a clinic near Birchmount Rd/Danforth Ave, in Toronto, on March 1.Laura Proctor/The Globe and Mail

Nearly two years later, Mr. Pirovolakis said Michael has shown many signs of improvement, such as hugs and kisses for his family, better motor skills with his toys and other signs of better cognition, as well as a slowing of his paralysis. Mr. Pirovolakis and his wife remain hopeful that the therapy will help ward off some of the progressive elements of SPG50 as Michael gets older. But they know treatment can only go so far, given how much the disease had advanced by the time he received gene therapy.

Once parts of the nerve cells called axons die, Mr. Pirovolakis said, they can’t be regenerated. “We gave him a better life, but ultimately, you want your child to get married and have a family. I wanted to cure him.”

In addition to caring for his son, Mr. Pirovolakis is now focused on helping other families affected by SPG50. He founded Elpida Therapeutics (elpida means hope in Greek) to connect other families with the gene therapy they used for Michael.

He’s hoping that the work they’re doing with other families around the world will eventually be enough to pave the way for better, more accessible treatment options for children like his son.

At SickKids, Dr. Cohn is also trying to make gene therapy more accessible. Last fall, the hospital launched Precision Child Health, a new campaign designed to bring personalized medicine to the general patient population, not just the exceptional few who are able to raise money and launch charities on their own.

“We’re really trying to change how we deliver health care for children,” Dr. Cohn said. “We want to develop and move these therapies forward and make them accessible to all.”

Ms. Telesca is one of the many parents hoping that day arrives sooner rather than later. She and her husband have raised nearly $85,000 through a combination of GoFundMe and donation boxes at local bake sales and other events. They’re also relying on a loan of $150,000 to help them find a treatment to help Eliana. Since her diagnosis, Ms. Telesca has learned that gene replacement therapy alone wouldn’t work because of the nature of Eliana’s mutation. Advances in gene editing may be beneficial, but Ms. Telesca recognizes one likely won’t be available to them any time soon. In the meantime, they’ve been working with a U.S.-based company along with her medical team in Canada to figure out whether there is an existing drug on the market that may prove beneficial to their daughter.

In the meantime, the three-year-old attends a daycare specializing in children with developmental challenges and has recently begun to feed herself and reach for objects. They’re waiting for the day she starts sitting, standing without support and reaching for her baby sister, Aurelia, who was born last August. Ms. Telesca remains hopeful that they’ll find a treatment that can help Eliana’s symptoms and delay further disease progression. But she also recognizes that a cure for extremely rare diseases is likely still a long way off.

“We’re sort of holding our breath,” she said.

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