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Home / Health / This teenager had a disease so rare that she had no name. His heritage could help countless others

This teenager had a disease so rare that she had no name. His heritage could help countless others



For the past seven years, Mitchell Herndon's body has been afflicted with a rare neurological disorder.

The disease – a genetic mutation only diagnosed in a few people around the world – robbed the Missouri teenager of his ability to walk Herndon made a decision and then his eyesight: if the disease killed him, he would be his body of science donate, hoping to save others.

Last Wednesday, just days before a potentially life-saving drug was manufactured Herndon, 19, died. Taking into account his wishes, Herndon's family decided to donate his body to Washington University, St. Louis, for research on neuromuscular diseases ̵

1; something that doctors say will be invaluable in promoting understanding of more than his own disorder ,

"It is an incredible tool he has donated, which will affect many people who identify with his condition in the future, as well as other people with other neurodegenerative conditions, such as Amyotrophic Lateral Sclerosis (ALS), or possibly Alzheimer's and Parkinson's disease, said Dr. Bob Bucelli, the neurologist who treated Herndon last year and associate professor of neurology at the Washington University School of Medicine in St. Louis. "It's an unlimited resource that he receives, and unbelievably, what In May 2019, Herndon was the subject of a 4 million-review documentary by NBC News Digital on life Herndon of Affton, Missouri, was a healthy, athletic child when he was 12 years old For many years he had difficulty moving his legs and was finally diagnosed with a rare mutation in the ACO X1 gene that until recently was diagnosed only with another person: a teenager in South Korea who is unable to communicate. Since the condition is so unusual, he still has no name.

Over the years, Herndon was in the hospital and back in the hospital. He lost the ability to walk multiple times and, thanks to physiotherapy and medication, regained it to some degree until a fallback in the wheelchair left him behind last fall.

While many patients with exceptionally rare diseases now find others like themselves thanks to genetic factors Because tests are cheaper and more general, Herndon has never done so. He found some friends in the deaf community, and among other things with muscle disorders, but told NBC News in May that he loved to meet someone who could relate to the ups and downs of his particular illness.

"If I know someone who was 50 years old and had the same thing, if he made it great, that would dissolve a lot of fear. "

" If I know someone who is 50 years old and had the same thing when he did it Amazing, that would dissolve a lot of anxiety. If we found out that this is progressive, that would be shitty, but at least I would know what to expect.

Mitchell Herndon in 2018. Courtesy of the Herndon family

Despite the unique challenges Herndon faced, he maintained a positive attitude – often using humor to improve his mood to improve longer hospital stays and spent as much time as possible with his siblings, Maxwell, 17 and Miranda, 11, and – when he was well enough – to attend S's. Louis University, where he enjoyed studying political science and theology.

The researchers knew that Herndon's condition would worsen, but were not sure how fast he could lose weight. Then they came across something that they thought could stop progression and possibly save their lives.

Dr. Hugo Bellen, a researcher at Howard Hughes Medical Institute and a professor at Baylor College of Medicine, who studies genetics and neurobiology, examined Herndon's mutation in fruit flies. Bellen discovered that a potent antioxidant, NAC amide, showed promising results in stopping the disease decline. However, the drug has not yet been approved by the Food and Drug Administration for use in patients.

Bucelli, Herndon's neurologist, worked tirelessly with the FDA to create a protocol for the drug that would be safe to try on Herndon. When Herndon worsened during his recent hospital stay, eventually stopped responding and became life-sustaining, the FDA finally gave Herndon permission to try – barely an hour after an MRI showed the disease had spread to his brain.

With irreversible brain damage, it was too late to try the drug. Herndon's family made the painful decision to remove him from life-something Herndon had told them he wanted, if he ever got to that point. The following day, held by his father, his mother and his brother, Herndon died, said his mother, Michele Herndon.

Hope for a young patient with the same disease

While drug approval for Herndon, doctors, came too late, they identified another patient who appears to have the same type of mutation as he: a small child in Ohio. Bucelli said he sends the research he has done on Herndon to Ohio doctors, who should open the door so they can get the medicine for their patient.

"Mitchell may have a direct impact on this next patient."

"Mitchell could potentially have a direct impact on this next patient," Bucelli said.

In the meantime, Bellen has submitted the first publication on Herndon's specific mutation for publication in a scientific journal. He suspects that there are more patients in which the disease is discovered, and in the newspaper Bellen suggested a name for it: Mitchell's disease.

Herndon's parents said that their son was always anxious to help medical professionals, either so I had students practice making anamnesis about him, or allowed newer nurses to make interventions on him, even if more experienced nurses were available stood. His mother said she hopes it will be part of her son's heritage to seek help in finding remedies for this condition and for others.

"Our decision to donate his body was just another way that we know he will advance medical research and hopefully continue to pave the way for future patients with his genetic mutation," said Michele Herndon NBC News via email. "We always knew that he believed his body was just that – a body, and his soul is what he would live on."


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