Alessia Sharpe was born with her eyes open. They were big and blue and seemed to be taking in the world from the moment she entered it. “It was incredible,” says her father, Adam. “She was so beautiful. She came out so alert. She was looking around. I was thinking, that’s not what happens in the movies.” The first-time father was spent after supporting his wife, Adriana, through a gruelling 27-and-a-half-hour labour. Adriana was even more tired, but their exhaustion was forgotten when the doctor held up their first child. Their daughter was finally here.
“She was strong,” Adam says. She had tiny fists and soft, round cheeks. There were no outward signs of the faulty gene which, left unchecked, would cause her muscles to atrophy, and ultimately claim her life.
“The whole pregnancy was fine,” says Adriana. “I had nausea at the beginning but it was a healthy pregnancy.”
Somewhere amid the excitement and chaos of Alessia’s arrival on August 18, 2018, a medical staff member gave Adam and Adriana a pamphlet. It outlined the NSW Newborn Screening Program which checks infants for congenital metabolic disorders via blood taken from a heel prick. Its purpose is to ensure any problem is detected as early as possible, so that treatment can begin immediately.
Just 17 days earlier, the program had been expanded to include spinal muscular atrophy, or SMA, which is the leading genetic cause of infant death.
“They said, ‘There’s this test’,” Adriana recalls. “We said yes to everything. I remember
