LITTLE ROCK, Ark. — A Garland County infant born with a life-threatening genetic disorder gets a multi-million dollar treatment that could save her.
It’s also a big milestone since she’s the first baby in the state that had the pricey one-time injection paid for by insurance.
When Josephine Gilmore was 4-months-old, doctors found she was born with Spinal Muscular Atrophy, also known as SMA. It’s a rare genetic disorder that causes a person’s nerves to start dying before they’re born.
“How could I let this happen to my kid? Why didn’t I see the signs? But you don’t know,” said Josephine’s mom Casey Gilmore. “There’s not enough education about SMA and how horrible of a disease it is.”
The earlier doctors detect the disorder, the better the outcome. Unfortunately many times SMA is not found until a child is a few months old, and that can be too late.
“At 6 months nearly 90 percent of the motor neurons in a child’s body are dead,” Gilmore explained.
There is a gene therapy drug that can help reverse the effects of SMA. It’s a one-time injection that costs around $2.1 million. Doctors call it life-saving.
“With the result that the nerve cells return to their normal health and their normal function,” said Dr. Kapil Arya, a Neurologist at Children’s Hospital who’s also an assistant professor at UAMS.
Dr. Arya was part of a team of doctors at Children’s Hospital who helped ensure Josephine could get the injection and worked with Medicaid to get it paid for.
“We’re seeing her hands move again, we’re seeing her legs move again,” Gilmore said.
The injection isn’t an instant fix, so every day is about waiting to see what happens.
“We have a phrase around here, we’re in Josephine’s world and we live in it,” Gilmore said. “I have every belief in this world she’s going to do big things.”
Early treatment for SMA could soon be an option for more kids. As of next year, Arkansas will be one of a handful of states that will require all infants to be tested for SMA at birth.