I am one of two people in the entire world that have this mutation, this disease, one in 4 billion. It has been very difficult for me to describe my disease to a strangers, just due to it being so complicated and something you wouldn't expect. Happy birthday to you. One, two, three [APPLAUSE] [MUSIC] I have a incredibly rare disease, progressive at the moment untreatable. We don't know what the future holds and that's that's scary to think about because I have lots of plans, lots of ambition, lots of things that I want to do in life. Michell Herndon has a disease so rare doctors don't even have a name for it. He can't feel hot or cold below his waist. He can't feel pain or pressure. Can't walk, and suffers from hearing and vision loss. I went to Philadelphia, Alabama to see specialists. My blood and my DNA has been sent to Europe. I've seen neurology, immunology, radiology I don't know if that counts. Rheumatology, I can't even give you a good explanation of what rheumatology is. This is noon and this is the morning. Just lots of pills. Well you have medicine for if you feel nauseous sort of sick to your stomach. Yes. It used to be a lot more but I've gotten used to it. he pills help address his muscle spasms and other symptoms. Twice a week, occupational and physical therapy help strengthen his upper body and leg muscles. Okay, one, two, three, thank you. Can you move it back so I'm in the corner over there, thank you. I don't know if I'll be wearing those out in public but I'll wear them around here. No, this is... I knew you were going to do that. [LAUGH] You were sent to the corner. See, it's not just me that tries to be funny on TV okay? [MUSIC] Mitchell's condition has been a medical mystery since symptoms first started to appear at age twelve. He was your typical kid, he had some asthma when he was younger but no other medical problems, ever. I had always been a very athletic and active child. So the first things that I noticed were just difficulty running, difficulty being athletic. When Mitchell was 12, he first came to us and said he felt like his legs were weird. So I took him to see a neurologist at St. Louis Children's Hospital, which actually I'm a nurse at the hospital and I felt they could solve everything. They're one of the top pediatric hospitals in the country and all of a sudden, these neurologists were telling me. We don't know what it is. And I kept thinking, what do you mean you don't know? I would see the tests that the doctor was doing, like checking for reflexes or checking sensation, you just have this pit in your stomach of he failing all these tests, what could it be? Lab tests for the diseases they were testing for were all coming back as normal. That was frustrating and confusing and you just want the diagnosis so bad and you're having to hear the doctor say you may never get one, we may never have a diagnosis. [MUSIC] We checked for everything from infections to cancer and to any type of auto-immune problem that was already unknown disorder. He had a problem with parts of the spinal cord and the nerves were not working properly there. It wasn't until Mitchell joined a network of doctors and rare disease patients that they began to crack his case. The group is called the Undiagnosed Diseases Network. It studies patient symptoms and genetic data in order to find diagnoses. When you're dealing with rare diseases, if you are able to find more than one patient, it sort of strengthens your data and your understanding of what's going on, that's what happened in this case. Six years after Mitchel first became sick, the network found the only other patient with Mitchel symptoms and the same gene mutation. A match to a fourteen-year-old girl in South Korea. This discovery led to Mitchell's diagnosis in March of 2018. Mitchel's diagnosis Is that he has a novel disorder that's caused by a change in the gene for ACOX1. ACOX1 is an enzyme, and it performs the most important step in the path to break down fats inside cells. In Mitchell's case, a mutation of the ACOX1 gene stops the ACOX1 protein from working properly. This leads to a backup of waste products in Mitchell's cells and that damages them, creating a chain of events leading to nerve damage. I think at first I had relief, we know what it is but then there was just even more just confusion and frustration because just coz we know what it is doesn't mean all of the sudden, he's gonna get better. It's not likely can Google ACOX1 and come up with anything they would get zero hits because it's so rare. It had been so long since I've really ever thought about or care and if we've ever found something because I have the kinda reside myself to the fact that no one would ever really find any answers, I had to just accept it, that was the way it was. So I was kind of shocked in disbelief that we had really found anything. In the last year, Mitchell's neck, throat, and diaphragm had been getting weaker, making eating increasingly difficult. I thought that was a piece of bacon, that was sauce. Although he has a diagnosis now, doctors are only beginning to study his disease, the reality he has to live with. The next generation of people with that problem, they get all of the research, and all of the ideas, and new medicines, and treatment that I won't get. While I'm happy to be the guinea pig, I would rather not be the guinea pig. I don't think I ever said why me, God? I think I more just said why anyone? Why would you put anyone through this? Why would you make any mother have to watch her kid go through this? Why would you make any teen have to go through this? And I don't know the answer yet, one day maybe I will find out. There are good things that have come out of this. Like my little son for example is very compassionate. If you think about like muscular dystrophy they have this massive Muscular Dystrophy Association, charity walks and runs for cancer and the Leukemia Lymphoma Foundation. They have all this support, and I'm glad that they do but when you're one of two, you really don't fit in anywhere and you're trying to find support wherever you can find it. I've gotten very, very good at being positive and putting a mask on and being strong. I'm not always like that on the inside and I don't like showing weakness almost. It this really hard, I want people to know that I deal with a bunch of crap. It's a lot, it sucks. [MUSIC] Mitchell was enrolled as a freshman at St. Louis University last fall. But a few weeks into school, his body relapsed and he had to take a leave of absence. He hopes to return soon. A 19 year old college student is obviously surrounded by the dating scene and that's definitely something I'm very interested in. But it's also very scary for me that has caused a lot of pain, sadness, and I'm very different, I have lots of problems. I'm gonna have to find a very special girl that is okay with those, and who loves me for who I am. And I am very hopeful that I'll someday find someone to love me like that, and be able to be a father and raise children. [MUSIC] Great look here. Okay All right Go and get the poster I hope that by my unfortunate situation, I can help bring out the goodness in all those around me. And hopefully in myself as well. [MUSIC] I'm falling dad. Thank God, wow.
Doctor: "I've got good news and bad news. The bad news is you have a disease so rare nobody has ever seen it before"
Patient: "Fuck. What's the good news Doc?"
Doctor: "Youre going to have a disease named after you"
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Reminds me of a kid in my hometown. He’s got stoneman disease. 800 people in the world have it. And it’s brutal.