CHICAGO - A downstate baby will celebrate her first Christmas thanks to a revolutionary new treatment performed at Ann and Robert H. Lurie Children's Hospital in Chicago.
"To me, it still seems like a miracle of science to do this," said Lurie Children's Dr. Nancy Kuntz.
Brooklin Konczak is now eight months old, but she wasn't expected to live beyond five months of age after she was diagnosed with Spinal Muscular Atrophy Type 1, or SMA for short.
"SMA is a progressive genetic disease that causes the loss of the ability to eat, walk, talk. What it does, is it deteriorates her muscles," said Angela Konczak, Brooklin's mom.
Brooklin was among the first wave of pediatric patients at Lurie's to receive gene replacement therapy for the disease.
"It basically gives back the missing gene that causes SMA," said Brooklin's doctor, Dr. Vamshi Rao.
Before the procedure, Brooklin struggled to eat and breathe. Now, she's regaining strength and can lift food to her mouth and wiggle her legs.
During the one-time treatment, a harmless virus is infused into the body that's carrying a synthetic version of the missing gene that causes SMA.
The virus is "shelled out" so it acts only as the vessel to get the gene into the body. Then, once it is inside, it replicates.
"Using a trick of nature, where the virus inherently wants to replicate, it wants to make more and more copies, and in the process, it also makes more and more copies of the gene that it is carrying," said Dr. Rao.
Brooklin's mom Angela says time is of the essence with the disease.
That's why, it's key all babies are now tested for the condition immediately after birth during their newborn hospital screening.
"So the little heel stick, the little heel spot of blood that most parents remember from the newborn nursery, now screens for upwards of fifty disorders and this includes Spinal Muscular Atrophy," said Dr. Kuntz.
Angela says Brooklin was initially misdiagnosed at a downstate hospital and then received unnecessary treatment. It is her doctor's hope that Brooklin will regain the muscle control she lost during that time.
Angela is focused on the future and the incredible care Brooklin is now receiving at Lurie Children's Hospital.
"Right now, I am super thankful that my daughter is still here. If she wouldn't have received treatment, she would not still be here with us today," said Angela.
Brooklin's treatment cost $2.5 million. Her doctors petitioned her family's insurance company to cover the cost.
Due to repeated trips to Chicago and Brookin's extended hospital stay, her family is experiencing extreme financial hardship.
They have started a Go Fund Me page to help care for Brooklin. You can see it here.