As originally reported in NBC News, Mitchel Herndon was witty, sporty, and very close with his siblings. At 19, he began to study as a freshman political science and theology at St. Louis University when he had to drop out because his rare disease was progressing. The disease is so rare and poorly known that it might be named after him. The news of his irreversible brain damage came just before a possibly life saving drug tailored for him was approved by the FDA.
Mitchell’s Story
Mitchell struggled with a rare neurological disorder for the previous seven years, as he lost his mobility and freedom through his adolescence. Before that, he was healthy, played sports, and went to school. Over the course of high school, his disease progressively took away his good health bit by bit. It stole his eye sight, his hearing, and his ability to walk. He was not in pain; in fact, he could not feel pain or pressure at all. He couldn’t feel temperature below his waist. His life was tied up in medical appointments, physical therapy, and medications. He saw specialists from all over the world and traveled up and down the country to seek better diagnoses and then better treatment options. He took a bucket of medicines in the morning, mid-day, and at night, and saw different physical therapists to strengthen his muscles and help prevent degeneration.
He finally found answers when he went to the Undiagnosed Diseases Network which studied his genetic information along with evaluations of the symptoms. Here, they found another patient with the same mutation: a 14 year old girl in South Korea. This was hard, because with only the two of them, it was unclear what to expect for the future and there were no current treatment options. The daunting and murky nature creates a lot of anxiety. He said, “If I knew someone who was 50 years old and had the same thing, if they were doing amazing, that would clear up a lot of anxiety. If we found out this is progressive, that would suck, but at least I would know what to expect.” There’s no network to tap into and no support system to feel part of and rally behind.
He still went to school, hung out with friends and siblings, and even starred in an NBC documentary about living with his mysterious illness that was viewed over four million times. In the documentary, he discusses his hopes for a girlfriend and to get his education, and his fear he wouldn’t get to experience it. He expresses the loneliness of his condition, the pain of not having answers that really gave him solace. He says that he’s glad he can help the future of research with his experience, but he wishes he didn’t have to be the guinea pig. It would be nice if it wasn’t him.
The Medical Odyssey
While his disease progressed, doctors worked to try to stop the downward spiral. They knew it would continue to worsen but couldn’t predict the timeline of the disease. His neck, throat, and diaphragm was already weakening, causing him to have trouble eating. Dr Hugo Bellen put his energy into researching Mitchell’s mutation on fruit flies while working at the Howard Hughes Medical Institute and as a professor of genetics and neurobiology at Baylor College of Medicine. In his work, he came upon a momentous discovery: the powerful antioxidant NAC-Amide. It seemed promising, but for any ultra-rare disease, it’s hard for therapies to go through clinical trials because of the lack of subjects that can participate.
The drug was not yet approved by the US Food and Drug Administration (FDA), but people around Herndon knew he didn’t have much time. His medical team worked on his behalf. Dr. Bob Bucelli worked as Herndon’s neurologist and put tireless efforts into acquiring FDA approval so Herndon could trial the drug before it was too late. Tragically, the medication was approved just as Herndon ran out of time. One night he was admitted to a hospital because his disease had progressed, this time spreading to his brain. He became unresponsive and was put on life support. Within an hour, the FDA finally granted their approval for his medication, but with the irreversible brain damage, there was no hope of recovery. Mitchell was removed from life support under his own wishes that he had expressed beforehand. He wanted his body donated for research, so maybe the next time someone was born with the disease, the research and medications would already be more developed. Mitchell’s family was holding him when he passed away the following day.
Already, they have found another a child in Ohio who seems to have the same mutation. While the extensive research couldn’t save Herndon, it could save this child, who has a big head start in terms of information. Information from every case strengthens the data about the disease. With Mitchell’s body preserved for investigation, Mitchell’s legacy will live on in helping pave the way to therapy for the next generation of patients.
