New treatment offers hope for children diagnosed with fatal disease

A new treatment is offering new hope to families affected by Niemann-Pick disease type C (NPC), a rare and fatal genetic disorder that was once considered untreatable.

NPC, which often begins with seizures or symptoms like clumsiness and learning difficulties, causes fats to build up in the body's cells due to the inability to remove them. The condition affects the brain and other organs and can drastically change the course of a child’s life.

For 14-year-old Cole Stites, the diagnosis came after a grand mal seizure that lasted nearly five minutes. Once a gifted baseball player, Cole's life changed in an instant.

Now, a new drug called Miplyffa is giving Cole and others a second chance. The medication helps protect cells and slow the progression of the disease. After just three months on the treatment, Cole’s condition showed signs of stabilization, and some categories of symptoms improved.

While the drug has been linked to some serious side effects involving the liver, heart, or muscles, those cases have been manageable, and patients have made full recoveries.