PEORIA, Ill. (WMBD) — Zoey Carpenter’s parents noticed something was wrong when she wasn’t hitting baby milestones, like standing or crawling properly. At 17-months-old, Zoey was diagnosed with Spinal Muscular Atrophy (SMA).
“She’s not getting adequate amount of proteins to her muscles,” Alexandra Carpenter, Zoey’s mom, said. “SMA affects your swallowing, your breathing, the ability to smile, to sit, to stand, to walk — anything that involves a muscle.”
She said the disease used to give patients a lifespan of about two years, but fortunately, a few novel treatments are available. So while there is no cure, Zoey received a new gene therapy.
“So if you Google the most expensive drug in the world, our daughter’s drug will pop up,” Alexandra said.
Alexandra said the treatment has worked miraculously, but there is still some worry.
“They don’t know how much damage has already been done to know what she’ll be able to do,” she said.
She said she wishes her daughter would have been tested for SMA at birth, but said Illinois didn’t start testing newborns until Zoey was one year old.
“If my daughter would have been treated at one-month-old instead of 17 months old, our life would look a lot different right now,” she said.
She advocates for babies across the country to be tested for SMA at birth and said 14 states still do not conduct the test.
Alexandra stopped working as a travel nurse and takes care of Zoey while her husband serves in the military. Zoey gets therapy four days a week at three different locations, one being Easterseals of Central Illinois.
“She is just doing the unthinkable and I think she shocks everyone,” Alexandra said.
Doctors predicted Zoey may never stand or walk, but with the help of gene therapy and treatment, she is able to play around as the toddler she is.