Fort Worth toddler first in Texas to be treated with new drug for rare disorder
A Fort Worth toddler was the first person in Texas to be treated with a new, high-dose drug for a rare genetic disorder.
Jesse Gonzalez Vasquez, 2, was born with spinal muscular atrophy. The disease affects the body’s motor neurons, which are the roots of your motor nerves in your spinal cord, said Dr. John Brandsema, a pediatric neurologist at the Children’s Hospital of Philadelphia and an expert on spinal muscular atrophy, or SMA. SMA affects roughly 1 in 10,000 live births, according to the Muscular Dystrophy Association.
Brandsema explained that humans are born with one pool of motor neurons for life, and SMA slowly robs individuals of their motor neurons over time, leaving them with difficulty walking or running, holding up their heads, or even swallowing food and liquid safely. The disease can be paralyzing, or even fatal.
SMA used to be the most common genetic cause of infant death, Brandsema said.
When Lupita Vasquez, Jesse’s mom, learned her son’s diagnosis, she was devastated.
“They can’t really promise you that your baby’s going to walk,” Vasquez said.
But Jesse was born during a revolution in how patients with SMA are treated. In the last decade, a tranche of treatments for the disease has become available, making the disease that was once a devastating diagnosis a more manageable condition.
In 2016, the U.S. Food and Drug Administration first approved a targeted treatment for SMA, Brandsema said, and now there are four targeted treatments available.
The difference for patients, Brandsema said, is 180 degrees.
“It’s really changed the experience of the disease,” he said
Jesse is one of those patients who has had a totally different experience with SMA because of the new treatments available. And in April, Jesse was the first patient in Texas to receive the newly approved, high-dose Spinraza.
Spinraza targets the gene that produces a protein known as SMN1, which is essential for motor development. Spinraza works on the defective gene to produce more of the missing protein. The U.S. Food and Drug Administration approved the higher dose version of the drug, made by Biogen, in March.
For Vasquez, 29, treating Jesse with Spinraza was an easy choice.
“If there’s a treatment out there to help my baby, I’m gonna try to do it,” Vasquez said.
Now, Vasquez’s living room has been transformed to look like Jesse’s physical therapy office. There are no tables or lamps in the way. Instead, there are soft and colorful blocks and wide open space for Jesse to practice crawling and, hopefully soon, walking. Vasquez says she’s already seen a difference with the high-dose Spinraza, with Jesse able to take a few steps at a time. Soon, she hopes, he’ll be walking independently throughout the house.
“As a parent, you don’t want your baby to go through any pain, and you don’t want them to miss out on anything in their life,” Vasquez said.
