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Doctor Reacts to the Rarest Diseases

— YouTube physician Dr. Mike looks at four cases from TLC's "Body Bizarre"

MedpageToday

In this video, Mikhail Varshavski, DO -- who goes by "Dr. Mike" on social media -- explores several unique medical conditions.

Following is a partial transcript of the video (note that errors are possible):

Varshavski: We're about to watch TLC's show, "Body Bizarre." Again, I don't love the title. I have said that time and time again with many of these shows, but I think there is a lot to learn not only from a medical standpoint, but from a compassion and empathy standpoint. Let's check it out. Peewoop!

Narrator: Home to Claudio Vieira de Oliveira, a 37-year-old with a curious condition.

Varshavski: Wow. There is some kind of contractures likely to be congenital, but could be traumatic.

Claudio: No one has ever been able to explain the reason I was born with this disability.

Varshavski: Obviously, you could see that there are deformities throughout the body, hands, feet, the spinal cord -- there is some involvement -- and it's likely something to do with the musculoskeletal system because otherwise it looks like he is functional. He is cognitively there. He is telling a story.

Narrator: His spinal column is so severely twisted that his head rests facing backwards.

Claudio: When I was born, the doctor said I wouldn't live longer than 24 hours.

Narrator: The doctor was wrong. Claudio survived happily and pain-free. His parents having lost faith in doctors' opinions never brought him back to the hospital.

Varshavski: Wow! Risky, obviously, given the nature of this condition. It's possible that in the area where this person lives they might not have medical care where they would have these answers even. They would need someone very sub-sub-specialized for a condition that's this rare.

The fact that he is not in pain is really incredible, because it looks like there is a lot of muscular imbalance that would likely result of this, maybe even nerve impingements where there is pressure on the nerve, and you're going to start getting abnormal sensations down the body.

Claudio: I have never contemplated giving up. Maybe this strength comes from my family and friend support.

Varshavski: Having a strong support system, especially one from a family, goes such a long way knowing that there is people who care for you.

Narrator: As a youngster, Claudio was determined to get an education.

Varshavski: It's interesting looking at someone who obviously had to face a lot of challenges to use equipment that is not made for him, it's not easily accessible, and yet he is finding a way to persevere through it. It's important to show how adaptable the human mind can be when it is faced with a challenge.

Narrator: The hard work paid off. Today, Claudio is an accountant.

Varshavski: Wow.

Claudio: I am someone who managed to adapt to my body. I don't see myself as being different from a normal person.

Varshavski: This is his perspective, and we validate this perspective. We should validate this perspective. At the same time, if another individual sees him and views him as different, but is still very encouraging, is very fair to him, and kind, that is also acceptable. We as humans need to have a wide variety of emotions and a wide variety of opinions in terms of how we interact with the world.

Now, a person who experiences a congenital situation like his may look at it and say I wish I could change certain things about my body and get medical care in order to improve certain aspects of their lives. That is totally reasonable as well.

Narrator: He has had pain in his legs from shuffling across the hard floor.

Varshavski: See, that's why I found it weird when in the beginning they said that he wasn't experiencing pain. Just biomechanically the way that he moves around in his position, you could see that there is going to be muscular strain, nerve strain, ligamentous strain, and a skin breakdown from constantly putting pressure on certain areas of his body.

Claudio: When I got shoes, my life became much easier.

Narrator: Which makes an afternoon outing even more comfortable.

Varshavski: It's great to see his family be around him and other children especially because it teaches them from a young age that humans are different, we come in all shapes and sizes, and there is no perfectly normal human. We're all different.

Narrator: Dr. Angelina Acosta, a medical geneticist, has become fascinated by Claudio's case and wants to examine him in person.

Varshavski: Hmm.

Dr. Acosta: It's really rare to see a patient with all of these limitations survive.

Varshavski: Yeah. Because there is cardiopulmonary compromise when there is such severe deformities of the spine. You need to really get a good sense of what the anatomy is like, the circulation in the body. Because, remember, like we have a balance center in our ears that is largely dependent on gravity. But when your head is constantly in an upside down orientation, it has to adapt. It's going to be interesting to investigate how that's happening, what could be improved, and what could be learned from this. This is only, obviously, if he wants to do that.

Narrator: Claudio agrees to see the doctor.

Claudio: The thought of surgery scares me because I don't know what the result will be. If I had surgery, would I be the same Claudio or would I be worse?

Varshavski: That's an important question to ask for any surgery. That is essentially trying to figure out is medical intervention a) necessary and b) do the benefits outweigh the risks.

Narrator: She is eager to know what caused his deformities and sends him for x-rays.

Varshavski: That's not going to answer the question, more so just show the bones within the body. Genetic testing is probably the way to figure that out. A lot of genetic conditions don't necessarily have to occur because you inherited them. Sometimes there could be spontaneous abnormalities in genes that can cause birth defects or situations to even arise in adulthood.

Narrator: Claudio is surprisingly healthy and as for any medical intervention Dr. Acosta believes it wouldn't be worth it.

Varshavski: Interventions come from a) need and b) benefit with minimizing risk. But no intervention, zero, unless they don't work, have no risks.

Dr. Acosta: We can say that he has arthrogryposis multiplex congenita. "Arthrogryposis" means that there are multiple joint contractions. In your case, that happens with your legs and arms, which can't extend properly. And "multiplex" because this affects several joints in your body. And "congenita" because you were born with it.

Varshavski: Any procedure that would need to happen surgery-wise would require multiple surgeons to be available at the same time. You're going to need a lot of specialists because there is a lot of parts of the body involved here. Even like a cardiothoracic surgeon would probably be wise.

Dr. Acosta: It can be a neurological problem. It can be a muscle problem. It's really necessary to continue the investigation to try to confirm the diagnosis.

Varshavski: To confirm the diagnosis is really for case report purposes, for research, to understand it, to be able to help others in the future if possible. It's very unlikely that by studying this continuously they are going to be able to offer some kind of recommendation that he doesn't already have.

is a board-certified family physician and social media influencer with more than 10 million subscribers.