- 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)