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Connecticut mom becomes voice for families affected by rare genetic disease

Posted at 11:27 PM, Dec 28, 2020
and last updated 2020-12-28 23:27:18-05

A Connecticut mom has made it her mission to be a voice and advocate for families who are affected by the rare genetic condition SMA, or Spinal Muscular Atrophy, which is the leading genetic cause of death in infants and toddlers.

At almost 18 months old, Olivia has come a long way in her short life.

“She’s very temperamental, she knows what she wants and makes her needs very known,” mom Stacy Pokorny said. Pokorny said she's able to sit independently and has more words and motor skills these days. She calls her daughter's big milestones "inch stones" and says, “I don’t think there’s much that can really prepare you for a diagnosis like this.”

Olivia is the youngest of three and Pokorny is a nurse, which she says is both a blessing and a curse.

“Initially to be told your child has a rare neuromuscular disease and there’s an 8% two-year survival rate and the cost of the medications available was astronomical,” Pokorny said.

SMA is a progressive neuromuscular disease. Olivia has the most severe form. She wasn't symptomatic at birth, but Pokorny says she went from total movement to very little movement in about two weeks.

“She quickly went from being able to lift her legs, arms and all that to not being able to move. She could only move her ankles,” Pokorny said.

Eventually, she lost her ability to swallow and they learned she had SMA, which Pokorny says is like ALS, but in babies. Now, Olivia is getting treatment, but they're learning as they go.

“There’s so many unknowns. We’re happy with the progress we’re getting. I have no reason to believe that she won’t continue to progress, but again, it’s science. We don’t have that long-term data to compare to,” Pokorny said.

Karen Chen, CEO of the SMA Foundation, says, "There’s no standardized screening prenatally. It's a ‘Catch-22’ because in order to qualify to be on a state panel for screening, this is all done at the state level. There has to be a therapy for the disease which makes it hard to get drugs approved because, especially for genetic disease, the symptoms occur so early and the kids might even pass away by the age of 2.

“That’s a short period of time to get a diagnosis and be enrolled in a clinical trial.”

Because newborn screenings are still fairly new, kids are losing precious time. The earlier you get a diagnosis, the more function you'll have. More states are adding the tests and Connecticut used Olivia's blood as a sample comparison to move forward with standardized testing.

“As you might imagine, it’s challenging to come up with a test that’s reliable and accurate because you don’t want to miss patients, but you don’t want a false positive where you’re told you're about to have child with SMA or your child has SMA when that’s not the case,” Chen said.

Chen says there are three approved drugs that have been released in the last four years. Children like Olivia are achieving those "inch stones" with success.

Pokorny says not everyone has a pharmaceutical and medical background like she does, and she knew what calls to make and how to be persistent.

“My biggest thing is, okay, now we’ve resolved it for Olivia, but what are we going to do so it doesn’t happen to the next person who calls in and doesn’t know the steps of how to play this,” Pokorny said.

And she says she'd rather fight for her daughter and all those other children than wait for the unknown to take over.