Minnesota mother advocates for son’s rare disease treatment

A Minnesota mother is searching for answers after her 17-year-old son, Connor Martin, developed a mysterious illness. Connor, who enjoys playing the violin and softball, began showing unusual symptoms over three years ago. His mother, Jessica Martin, noticed he was becoming clumsier and his reaction time was slower. Despite normal blood tests, Jessica Martin continued to seek answers. She took Connor to children's neurologist Dr. Jessica Goldstein at M Health Fairview Masonic Children's Hospital. Dr. Goldstein explained that diagnosing such conditions requires careful detective work to find clue-like symptoms. After months of testing, Connor was diagnosed with Niemann-Pick disease type C (NPC), a rare and serious neurodegenerative illness. Jessica Martin was understandably terrified. She advocated for Connor to participate in a clinical trial for a new drug called Miplyffa. Since starting the treatment in late 2022, Connor has shown improvements in swallowing, speech, and energy levels. Jessica Martin expressed gratitude for the extra time and memories the medication has given their family. They are looking forward to enjoying baseball games together, especially the upcoming Minnesota Twins opening day. Jessica remains hopeful and insists on the importance of finding a cure, emphasizing that gene therapy could be the key to helping those with rare diseases like NPC.