Rare disease added to state’s newborn screening thanks in part to Stafford Springs toddler

Connecticut Families

STAFFORD SPRINGS, Conn. (WTNH) — “The best way to describe this is it’s like ALS or Lou Gehrig’s Disease in babies,” Stacy Pokorny said, explaining the rare disease her young daughter is battling.

Little Olivia suffers from Spinal Muscular Atrophy (SMA) a degenerative, progressive disease that affects her ability to move and eat.

And now, thanks, in part to the 18-month-old, the condition is part of the state’s newborn screening.

“They had called me to see if they could use her blood sample to make sure the test worked,” explained Pokorny. “Anything we can do going forward to help others because if it’s caught early, the outcome can be very different.”

Pokorny said her little girl is amazingly making strides, using sign language to communicate and even saying some words after starting a new treatment in August, which was recently approved for SMA patients.

“We’re very happy we were able to bring Evrysdi in a year where specifically an at-home treatment is very much needed,” said Dr. Dalia Moawad, Executive Medical Director at Genentech.

The oral liquid medication taken daily helps improve patients’ motor and breathing function, as well as their quality of life — an example that could provide hope to others.

“We’re always committed to following the science and continuing to innovate and bring groundbreaking therapies for patients living with rare diseases,” she said

“We were told she had a two-year, eight percent survival rate without treatment so, at this point, anything is a bonus,” Pokorny said of her spunky, happy toddler.

She advises parents to be vigilant about advocating for their kids…this, in honor of Olivia.

“She’s happy and we do everything we can to give her the best life possible,” said Pokorny, who prays for a cure each and every day.

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