According to a story from NBC News, Mitchell Herndon, a 19 year old from Missouri, recently passed away due to the progression of a rare genetic disease that is so uncommon that is hasn’t officially been named yet. The progressive, degenerative disorder gradually debilitated him over the last seven years of his life, and he died only days before a possible treatment would have been available to help him. Although Mitchell’s life tragically could not be saved, the story of his disease—and his body, which he donated to research—could ultimately help others with undiagnosed genetic disorders.
Mitchell’s Story
Mitchell’s remains are currently in St. Louis as Washington University, where they will be analyzed for neuromuscular disease research. Dr. Bob Bucelli, who was involved in the teen’s case in the final year of his life, says that his contribution could have impacts not just for other with his disorder, but for similar, more well known diseases also, like Parkinson’s and amyotrophic lateral sclerosis. Last May, Mitchell was the focus of a documentary about his case that was viewed millions of times (to check it out, click here).
Mitchell first began experiencing symptoms when he was just twelve years old. Up until that point, he had been a healthy and athletic child, but he started having trouble moving his legs. A genetic analysis revealed that he had a mutation affected a gene called ACOX1. At that time, there was only one other documented case of this mutation anywhere in the world that involved a South Korean girl who was unable to speak.
Hope for a Treatment
Mitchell repeatedly struggled with walking and while physical therapy was able to restore his ability for a while, he eventually was relegated to a wheelchair. Despite the circumstances, Mitchell did his best to remain positive during his ordeal and spent as much time as he could with his two siblings Maxwell (17) and Miranda (11). As researchers scrambled to find a treatment for Mitchell, they came across something that appeared to have potential to halt the disease progression: an antioxidant called NAC-Amide.
Unfortunately, the disease began to affect Mitchell’s brain before the treatment could get prepared for use. Now unresponsive, Mitchell was removed from life support as he requested should he ever reach such a state. While the drug couldn’t save Mitchell, the treatment could make a difference for a patient in Ohio who appears to have the same mutation.
Dr. Hugo Bellen, who had been researching the ACOX1 mutation, proposed a name for the disorder: Mitchell disease.
