The Globe and Mail — March 2024
Families step up to find gene therapies for diseases too rare for research firms
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.
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