NORFOLK, Va. — Katy Blanchard describes her son, Karson, as someone who always makes people laugh.
“He has a smile on his face, I would say 95 percent of the time,” she said.
The playful 5-year-old enjoys his games and chocolate milk. Though, Blanchard said she noticed a delay in his motor skills at an early age. Doctors later diagnosed him with Duchenne Muscular Dystrophy.
It’s a rare condition that happens more often in young boys. It leads to muscle wasting and worsens over time. Symptoms of muscle weakness usually begin in childhood, often between ages 3 and 6.
“When we found out, he immediately started on a weekly infusion," Blanchard said. "So, he gets ‘poked,’ as he calls it, weekly.”
“This is a result of the body not making a sufficient of a protein called dystrophin," said Dr. Crystal Proud with Children's Hospital of The King's Daughters (CHKD). "This leads to their loss of walking by about age 10 to 13.”
As it progresses, a patient can produce life-threatening heart and respiratory problems.
“Ultimately, they pass away, usually in their 20s,” Dr. Proud said.
Though, a new treatment recently approved by the FDA is bringing hope to the Blanchard family. It’s called Elevidys, designed to help produce dystrophin.
“It gives us hope that we didn’t really know we could have,” Blanchard said.
Karson will be the first child in the state to receive the gene therapy just days before his sixth birthday. The treatment is for pediatric patients 4 to 5 years old with Duchenne Muscular Dystrophy. Blanchard said that means he won’t need weekly infusions.
“At least not for a couple of years," Blanchard said. "We probably won’t have to do that. So, he’s excited for less pokes.”
Dr. Proud said after the infusion, Karson will get blood work done once a week for the next three months to make sure his heart and liver are doing well.
The FDA granted accelerated approval of Elevidys to Sarepta Therapeutics, Inc.