BATON ROUGE, La. (BRPROUD) – At one week old, baby Lexa at Woman’s Hospital received life saving gene therapy for her muscle disease called Spinal Muscular Atrophy (SMA).
“It’s the most common genetic cause of death in the first year of life,” said Charlotte Holman, Pediatric Neurologist at Woman’s Hospital.
While in the womb, doctors found that Lexa would be born with SMA.
This is the infant version of ALS.
SMA is muscle disease which can causes muscle weakness and lead to death.
The Woman’s Hospital was able to negotiate a two million dollar gene therapy, Zolgensma, from Medicaid, for Lexa.
“Nationally I don’t believe there has been a baby this young to get the gene therapy, so to have the opportunity to give it for a 4 day old is huge,” Holman said.
“Luckily we had physicians that were able to diagnose her prenatally, which was a big step, because most babies are diagnosed at a couple weeks of age or months, and by then the disease has already started to progress,” explained Kimberly Stewart, MD, neonatologist at Woman’s Hospital. “So the medication may help slow it down or stop it at that point, but the baby has already become symptomatic.”
Lexa’s two year old brother, Axel, is also diagnosed with SMA. He received his dose around 6 months ago.
“It’s more than I could have asked for, more than I could have hoped for,” mother Andrea James said. “I thank the Woman’s NICU team, maternal-fetal medicine, the neurologist, every piece of the puzzle that worked hard the last few months to get Lexa this treatment. Her outlook is limitless. I think it’s possible that she hits every milestone that any child without a neuromuscular disorder would meet.”
According to Woman’s Hospital, Zolgensma is a one-time therapy which targets the genetic root cause of SMA by replacing the function of the missing or nonworking gene. It attaches to the DNA without altering it.
The dose should prevent Lexa from showing symptoms of SMA.
The gene therapy has only been available for a year in a half.
“With Lexa it’s limitless. I think it’s possible for her to reach every milestone what would be considered for a normal kid,” James said.