- We're about to watch
TLC's show, "Body Bizarre." Again, don't love the title. I've said that time and time again with many of these shows, but I think there's a lot to learn, not only from a medical
standpoint, but from a compassion and empathy standpoint,
let's check it out. Pee woo. - [Narrator] Home to
Claudio Vieira de Oliveira, a 37-year-old with a curious condition. - Wow, there's some kind of contractures, likely to be congenital,
but could be traumatic. (speaking foreign language) - [Translator] No one has
ever been able to explain the reason I was born
with this disability. - Obviously you could see
that there's deformities throughout the body, hands,
feet, the spinal cord there's some involvement, and
it's likely something to do with the musculoskeletal system 'cause otherwise it looks
like he's functional. He's cognitively there. He's telling a story. - [Narrator] His spinal
column is so severely twisted that his head rests facing backwards. (speaking foreign language) - [Translator] 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 doctor's opinions, never brought him back to the hospital. - 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-subspecialized for a condition that's this rare. The fact that he's not in
pain is really incredible because it looks like there's a lot of muscular imbalance that
would likely result of this. Maybe even nerve impingements where there's pressure on the nerve and you're gonna start
getting abnormal sensations down the body. - [Translator] I have never
contemplated giving up. Maybe this strength comes from
my family and friend support. - Having a strong support system, especially one from a
family, goes such a long way. Knowing that there's
people who care for you. - As a youngster, Claudio was determined to get in education. - 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's finding a way to persevere through it. So, 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. - Wow. - [Translator] I am someone who
managed to adapt to my body. I don't see myself as being
different from a normal person. - This is his perspective and
we validate this perspective. We should validate this perspective. And at the same time, if another individual sees him
and views him as different, but is still very encouraging,
is very fair to him, 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. - 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's
gonna 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. - It's great to see his
family be around him and other children, especially,
'cause 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. - Hm. - It's really rare to see a patient with all these limitations survive. - Yeah, because there's
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 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. So, it's gonna be
interesting to investigate how that's happening,
what could be improved, what could be learned from this. This is only obviously
if he wants to do that. - [Narrator] Claudio
agrees to see the doctor. - [Translator] 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? - That's a important question
to ask for any surgery. That is essentially trying to figure out, is medical intervention, A, necessary, and do the benefits outweigh the risks? - [Narrator] She's eager to
know what caused his deformities and sends him for x-rays. - That's not gonna 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. - Interventions come from
A, need, and B, benefit with minimizing risk. But no intervention, zero,
unless they don't wor, have no risks. - We can say that he has
Arthrogryposis Multiplex Congenita. (speaking foreign language) - Any procedure that would
need to happen surgery-wise would require multiple
surgeons to be available at the same time. You're gonna need a lot of specialists 'cause there's a lot of parts
of the body involved here. Even like a cardiothoracic
surgeon would probably be wise. - It can be a neurological
problem, can be a muscle problem. So, it is really necessary
to continue the investigation to try to confirm the diagnosis. - 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're gonna be able to offer some kind of recommendation that
he doesn't already have. - [Narrator] 23-year-old, Tom
Staniford, has been training for years to be a world class cyclist. - Cycling is hard. I got a new bike. I haven't ridden it a lot
'cause I get tired real easy. - [Narrator] He suffers
from a mystery condition that no one's ever been
able to figure out. - He's very thin. - [Narrator] Tom's strange illness has left his body unable to
store fat under his skin. He only has 40% of an
average man's muscle tissue and is partially deaf. - Again, likely to be congenital because it has developed this way. It didn't happen in adulthood. Protein disorder is up there. Some kind of coding protein
could have a mutation in it. - [Narrator] Tom seemed
like a normal baby at birth and had a happy childhood. - He already had a
unique facial structure. So, maybe he was predisposed
to this condition. - [Narrator] By the
time he was a teenager, his body had completely
stopped metabolizing fat, leading to drastic weight loss. He's 6'3" and weighs only 133 pounds. - Wow. Just for comparison's sake, I'm 6'3", 195 pounds right now. A lot of people will forget the fact that fat is an important
macronutrient and we could use it for energy and we needed
to make certain hormones. It's the overconsumption
specifically of unhealthy fats that is one of the biggest drivers of heart disease and death. - [Narrator] Now he wants to go further and compete in the Paralympics. - That's gotta be hard because
if you can't metabolize and digest fat, you have
a significant disadvantage of energy storage and breakdown. - [Narrator] Because Tom's
medical condition is undiagnosed, the sports governing body doesn't know how to classify him for competition. - When we look at the
ICD-10 classification, the "International
Classification of Diseases 10," we have coding for things and you can do genetic
disorder unspecified. I'm sure there's a code for that. ICD-10 genetic disorder unspecified. Look at that, Z15.89,
genetic susceptibility to other disease. That would be a code that would probably get him into the Special Olympics. - [Alice] When I first met
Tom, it was kind of a bit odd to seem him for the
first time in real life. - And that's okay to say, right? If something's unusual, it's
okay to say something's unusual and be curious and kind
at the same time about it. Pretending that something that is unusual, just to ease your own
discomfort, may not be ideal for that even person,
because they wanna be honest and straightforward about
what's going on with them or their bodies. They may take that as a sign of that you're blocking
because you're feeling shame or some kind of negative
emotion to their appearance. - [Tom] Because I don't store fat, it remains in the bloodstream. So because of this, I
have type two diabetes. - I'm struggling to understand
exactly what his condition is because if he has an issue absorbing fat, then it wouldn't enter the blood, but it is entering the blood. So, he's having trouble processing the fat once it's already in the blood, basically driving it into the cells for energy or converting it
to different cholesterols and triglycerides, et cetera. - There's a new technology
called next generation sequencing which allows scientists to
screen the whole genome. This is 30,000 genes and it's equivalent to looking for a single spelling mistake amongst a library full of 30,000 books. - [Narrator] Finally, Tom has a diagnosis, mandibular dysplasia with deafness and progeroid features, MDP Syndrome. - I mean, I would like to know more about the diagnosis 'cause I mean, just because we've labeled
something based on the appearance and the other symptoms and
prognosis that he's experiencing, do we know yet the gene
that is involved with this. This is probably one of
those cases where the patient is by far a bigger
expert in their condition than any doctor they would go see. - [Narrator] Wang, who suffers from a disorder called neurofibromatosis, is plagued with the largest facial tumor the world has ever seen. - Neurofibromatosis,
there's multiple types. I believe it's a genetic condition where there's little tumors that can form on the skin, on neurological
structures on your body. Think the eyes, the
brain, the spinal cord. - [Narrator] By the time he was 31, Wang's facial tumor
weighed over 50 pounds. - Wow. - [Narrator] The weight of
the tumor damaged his spine and torso and he only
reached four feet tall. - That's also gotta be uncomfortable, that amount of pressure constantly tugging at the elasticity of your
skin, pulling the eyes, maybe not being able to
close your eye fully, which can cause tearing,
dryness of the eye. - [Narrator] The Chinese
government offered to cover the expense of
major facial surgery. - [Translator] I had never seen a tumor as big as Wang's in my
career on a human body. I was completely overwhelmed. - A lot of imaging has to take place here to see what anatomical
structures are in the masses. Like is it just tumor materials? Is it blood vessels, is it nerves? - [Translator] This was
the most complicated case in the world. There were no cases to use as a reference. - I'm surprised they wouldn't reach out to other worldwide leaders at this point. There's a lot of
collaboration that happens amongst doctors in rare cases where it's beneficial,
not only for the patient, but also for the doctors
to get this experience to be able to treat other
patients in their home countries. - [Narrator] It's taken a
team of China's best doctors over seven years and four
pioneering operations to remove more than 45 pounds of tissue from Wang's tumor. - 45 pounds, that's a lot. - Finally, he's got a
face he can live with. - Yeah, a face and a life. Like it takes a toll carrying
that much excess weight on your face. You can't enjoy daily activities and quality of life begins to suffer. Outside of social living,
just functionally. - [Narrator] 22-year-old, Amanda Grice, has a rare and embarrassing problem. For 12 years, she's been living in a permanent state of sexual arousal. - Oh wow. - I lost count honestly,
of how many times a day I have orgasms. I'd have 50 orgasms, and well into the day it would be well over a
hundred by that evening. - This type of persistent
sexual arousal syndrome was documented in my
video with Dr. Rena Malik where we talked about it, but it it's a very complex situation 'cause a lot of things have to
be taken into consideration, not just physical health,
but psychological as well. - [Narrator] 50 orgasms a day might sound like pure pleasure, but it's making Amanda's
life a living hell. - No, it's not pure pleasure. Anything that falls outside of a balance can become quite problematic. A lot of people hate pain and they say, "I wish I could never feel pain." That would be very problematic. The reason you know to take your hand off a hot stove is because you feel pain. So, it's a protective mechanism. The reason why your foot
goes numb and you get pins and needles, it's
uncomfortable and you know to move it is because of pain. Had you not known that, your foot can die. So, like all of these signals
that can be problematic if experienced to a high degree,
also need to be experienced to some degree to get
the benefits of them. - [Narrator] Amanda is desperate for help. But so far, the medical community has let her down at every turn. - Most of them are very
dismissive about it. A lot of doctors don't have
knowledge of this disorder. - Dismissal, very disappointing that the medical community doesn't help or doesn't even wanna help. Not knowing, I could see
why that could happen. It's hard unless you
are a specialist to know about this condition, not
know about its presence, but know what to do and what to try. What's interesting to
me is there's all sorts of nerve ablation therapies
that we do where basically like let's say one of
your cutaneous nerves across your abdomen that come from your ribs, intercostals,
is constantly lighting up. You're having pain in that nerve and we try all sorts of treatments. You could do like a nerve ablation where you essentially shut that nerve down. In her case, I wonder if
that's possible as well or would there be other
consequences to it? Again would need a sub,
sub, sub-specialist help me answer that question. - Hi Amanda.
- It's nice to meet you. - Nice to meet. Have a seat. - Hi, how are you?
- Hi. - [Narrator] Dr. Echenberg
is a pioneer in understanding and treating persistent
genital arousal syndrome. - I want to know how you
become a pioneer in that. I just need the answer to that question. Genuine curiosity on my part. - [Narrator] And believes that
PGAD is largely misunderstood as a sexual disorder, when in fact it's more a
function of chronic pain. To treat that disorder
he'll inject her bladder with medications to relax the
muscles and ease the pain. 24 hours later, she's
already feeling the benefits. Amanda will continue to have
regular bladder injections which will numb her orgasms so she will only experience a few a day. - Is it like just a
lidocaine type medicine where it's a numbing agent or is it a muscular relaxing agent or even a muscle paralyzing agent, that would be a Botox
injection into the bladder. It would probably be too much,
then again, not a specialist. I need more info. Doctors continually blame
this patient's symptoms on his weight. I thought otherwise, so
we were able to help them. Click here to check out that entire story and as always, stay happy and healthy. (upbeat music)
