Children’s Hospital Colorado is following 180 people who are siblings or children of people with multiple sclerosis in a breakthrough study
Jennifer Brown 4:00 AM MDT on May 9, 2024
laise Pfeifer, 15 and a ninth grader at Standley Lake High School, lives for hockey. He started skating at 3, travels the country for tournaments, and describes gliding across the ice with a puck “like second nature.”
He also knows he has multiple sclerosis, though he has never felt a symptom.
He was diagnosed with the autoimmune disease that attacks the brain and spinal cord after enrolling in a study at Children’s Hospital Colorado for kids whose parents have multiple sclerosis. A series of brain scans beginning when Blaise was 12 revealed neurological activity and lesions that are telltale signs of multiple sclerosis.
Blaise began taking medication, a drug called rituximab, that his doctors say could prevent him from ever getting an MS attack. And since he began taking it two years ago, he has not had any new lesions on his brain.
The sequence of events is remarkable because people do not typically receive a multiple sclerosis diagnosis before they’ve had attacks — legs that go numb, lost vision in one eye that last for a few days, difficulty walking that lasts for a few weeks and then goes away.
There is no genetic test to diagnose MS and no one gene that is identified as the cause. Instead, scientists have identified more than 230 genetic changes that are more common among people who have family members with multiple sclerosis.
Doctors believe the disease, which typically progresses to balance problems and difficulty walking, is caused by a combination of genetics and environmental factors. Low vitamin D, living in a house with a smoker, childhood obesity and contracting the Epstein-Barr virus are among the environmental factors. People are most often diagnosed in their 20s and 30s.
Blaise’s mom, Amanda Pfeifer, was diagnosed in 1996 at age 24, after making four or five trips to urgent care and a hospital emergency department. On her first trips to the doctor, Pfeifer had a numb feeling in her left leg, from the knee to the foot. Doctors speculated that it was a pinched nerve, then poked her with a needle to see if she could feel it. She yelped out in pain, and then they sent her home.
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