Levittown family credits newborn genetic testing for improving daughter's quality of life
LEVITTOWN, Pa. (CBS) -- Genetic testing of newborn babies is becoming more common in many states, now including New Jersey. Identifying and treating conditions early improves outcomes. It's been a lifesaver for one family from Levittown.
After learning their baby has a rare disease, this family has turned their shock and fear into hope.
"Millie's a firecracker, she's crazy," mother Liz Figueroa said.
"She's spoiled," dad Angel Figueroa said laughing.
Liz and Angel Figueroa are relieved to be able to joke about their 3-year-old daughter.
"She loves her sunglasses and her purses," Angel said. "She's just a little diva."
Millie was born with spinal muscular atrophy. SMA is a rare genetic disease that progressively impairs muscles all over the body.
"We didn't know anything about this disease, never heard of it before," Angel said.
Screening for SMA is now part of routine newborn blood testing, which is critical for early detection.
"We've gone from a disease course that's defined by progressive loss of function to one where that is no longer the case," Dr. John Brandsema said.
Brandsema, a neurologist at Children's Hospital of Philadelphia, says SMA isn't always fatal now thanks to improving therapies.
"Now that we have targeted treatments, people are living much longer and more functional lives with this previously very severe condition," Brandsema said.
Millie was among the first to receive a new combination of treatments that included a gene transfer.
"It gave Millie the ability to go as far as she has gone and make the progress that she's made," Liz said.
While Millie has some limitations and will need ongoing treatments, she's thriving. She's the family's dancing queen.
"In the SMA community, we are very fortunate. And you know, to see Millie grow and get her strength and do as much as she's doing. That's a huge deal for us. And we know how fortunate we are," Liz said.
They credit the newborn testing that's becoming mandated in more states. Along with improving treatments that give Millie the ability to play with her big brother Jona.
Millie is among an estimated 5,000 babies identified with rare conditions through newborn screening tests, which are mandated in Pennsylvania.
CHOP has a specialty center for treating SMA. For more information, click here.
