LAKELAND, Fla. (Ivanhoe Newswire) — Niemann-Pick Type C, or NPC is a relentlessly progressive and fatal genetic disorder that impacts both the body and the brain. In the U.S., only about 900 people are living with NPC. The disease often robs patients of their ability to speak, think clearly, swallow, walk, and move. Many are children. Now there’s a new FDA-approved medication that could be a game changer.
Just a few years ago, Cole Stites had a fastball few could hit! He lived and breathed sports.
“Well, we played a lot, a lot of baseball together. He was really, really good,” recalled his dad Chip Stites.
“I was nasty,” Cole told Ivanhoe.
So, what caused such a sudden change at age 14?
“Out of the blue one Saturday morning, he had a grand mal seizure, lasted almost five minutes,” described Cole’s mom, Dawn Stites.
That seizure marked the start of a long medical journey — and a diagnosis no parent wants to hear.
“When we got the genetic testing back in the neurologist office, he told us with tears in his eyes that Cole had NPC,” Dawn told Ivanhoe.
“The symptoms vary a little, but they can start with seizures. That could be the first sign and or something like clumsiness, difficulty with learning,” described Amaryllis Sanchez-Valle, MD, medical biochemical geneticist at University of South Florida Health.
In NPC, fats build up in cells because the body can’t remove them. But there is a new drug called Miplyffa that helps protect those cells and slows the disease.
“The symptoms stay more controlled for a longer period of time. It’s a game changer,” said Dr. Sanchez-Valle
Cole started taking three pills a day. Within three months:
“His numbers showed that he was maintaining, if not improved in some categories. I think that it definitely gave us our Cole back in a sense. I think the disease is still continuing to progress,” Dawn told Ivanhoe.
But for now, Cole is back on the pitching mound, throwing the first pitch of the season for his favorite team — the Rays!
NPC can be diagnosed in infants, or it can go undiagnosed for decades. Some patients don’t know they have it until their teen years, or even into adulthood. The new drug Miplyffa is FDA-approved for children over two years old.
Contributors to this news report include: Marsha Lewis, Producer; Matt Goldschmidt, Videographer; Roque Correa, Editor.
Source:
* For More Information, Contact:
Scott Stachowiak
Senior Consultant at Russo Partners LLC
Scott.Stachowiak@russopartnersllc.com
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