Incredible Medicine: Dr Weston's Casebook (2017): Season 1, Episode 1 - Episode #1.1 - full transcript
We're discovering astonishing things
about the human body all the time,
through people who are different
from most.
I'm Gabriel Weston.
As a surgeon, I've spent years
studying the human body.
And the secrets of how it works are
often revealed
by the most rare and surprising of
cases.
So I've searched the world to find
these extraordinary people
and bring you their stories.
This is my heart. I'm the only one
that has this.
I'm Jordy Cernik and I can't feel
fear.
My name is Harnaam Kaur and I'm a
fabulous bearded lady.
With the help of the doctors that
treat them
and some of the world's leading
scientists,
I'll be uncovering exactly what
makes their bodies unique.
I'm going to show you the hidden
processes that make them
exceptional.
Just look at that!
I'll discover how they're leading us
to the cures of the future.
When we make a breakthrough like
this it is very exciting.
And I'll use the latest technology
to uncover the secrets of their
bodies
and reveal how all of these cases
are giving us a new understanding of
the most amazing natural machine on
the planet -
the human body.
Every one of us is built to the same
fundamental and familiar blueprint.
We take for granted the shape and
form of our body.
It's what makes us recognizably
human,
shared across the species and the
planet.
But there are some extraordinary
people
who don't follow that universal
plan.
In this program, we'll discover
why this man doesn't have an ounce
of fat on his body...
..why this woman is growing a second
skeleton...
..why this man grew to be the
tallest in history...
..and why this man can survive
underwater for nine minutes
without taking a single breath.
All of these cases are bringing
astonishing new insights into how
the body's built and how it works,
and the first few cases we'll look
at involve some of the most vital
systems that keep us alive.
HIP-HOP MUSIC PLAYS
Seven-year-old Virsaviya loves to
pull shapes on the dance floor.
But Virsaviya was born
extraordinary.
This is my heart.
I'm the only one that has this.
Virsaviya was born with a condition
called Pentalogy of Cantrell that
only occurs in just five per
million,
and what it means is that Virsaviya
was born with her heart not inside
the ribcage where it would be
protected,
but on the outside, just under the
skin.
When I'm getting dressed I put soft
clothes on to not hurt my heart and
I just walk around, I jump, I fly.
I run. Well, I'm not supposed to
run,
but I love running!
When Virsaviya was born in
Novorossiysk in Russia,
doctors warned her mother, Dari, to
prepare for the worst.
Doctors told me that Virsaviya have
really rare condition,
but they said she won't survive.
When I saw first time how her heart
was beating,
of course to me it was something
special. It meant that Virsaviya is
alive and she can breathe and she
can live.
Dari moved all the way from Russia
to America and her hope in doing
that was that her daughter would be
able to have an operation to put
things
back where they should be.
But unfortunately and very
disappointingly for Dari,
she was told that Virsaviya just
wasn't strong enough because of
problems
with her blood pressure.
We came from Russia to
United States.
Doctors check her and they said they
cannot help her.
I was really upset about that,
because they kept telling me she
will die soon.
It's not easy for Virsaviya to live
with heart on the outside because
it's really fragile and she has to
be careful.
Of course, she can fall and it can
be really, really dangerous.
She can die from that.
When you first see Virsaviya,
what you instantly want to know is
how is this possible,
how has her heart formed on the
outside of her ribcage?
Well, until recently,
it was a complete mystery, and then
the first vital clue came from a
scientist working in a completely
different field altogether.
Dr Bob Edelstein is a molecular
biologist.
He spent years studying a protein
called myosin,
a substance that's crucial to our
growth and development from the
earliest days as an embryo in the
womb.
Myosin is essentially present in
every single cell of the body.
It is able to change the shape of
the cell.
It's able to allow the cells to
move.
In fact, plays a very important role
in cell division.
Myosin has lots of functions within
the body,
but one of them is involved
in embryonic development.
Myosin enables cells to migrate to
and end up in the positions where
they need to be.
To learn more about what myosin
does,
Edelstein's team did an experiment
in mice where they altered a gene to
stop it being produced in the mouse
embryo.
The results were completely
unexpected.
Without myosin, the mouse's body
plan had gone dramatically wrong.
When we made that mutation we found
that the mouse was born with its
heart outside the body.
This was quite extraordinary!
We'd never seen anything like this
before.
But purely by chance,
there was someone in the room who
had seen this before,
and knew exactly what Dr Edelstein
was looking at.
At the time, there was a pediatric
cardiologist
who was standing right behind me and
said,
"Oh, I know what that is.
That's Pentalogy of Cantrell."
I found it very exciting.
It raised the opportunity for the
first time to actually maybe try to
do something for people who are ill.
Although the gene that's involved in
the malformation in mice may not be
the only one involved in
human development,
it has provided Dr Edelstein
with an important clue.
Now the team are studying the human
genes that make myosin and other key
proteins known to be involved in
laying down the body plan
in an embryo.
This is a network of genes which are
making proteins that are interacting
with each other and that interaction
has to occur at the proper time and
in a proper way in order for the
heart to be placed properly inside
of the body.
And that secret is what we're
trying to uncover.
Doctor Edelstein is now searching
exhaustively through the DNA of
people
with Pentalogy of Cantrell to try
and identify what gene, or what
series of genes,
might be a problem.
To do that, he needs saliva samples
from people like Virsaviya and their
relatives. Oh, my saliva is pink!
Cool beans!
It was quite clear to me that
Virsaviya was very enthusiastic.
I also got the impression she was a
fighter and that she really wanted
to see this through and we don't
know that we'll be able to deliver a
cure in the immediate future by any
means,
but what we would be able to tell is
the likelihood of their next child
having a similar kind of syndrome.
As Virsaviya grows older and
stronger,
it may yet be possible to perform
surgery on her heart.
And work like Doctor Edelstein's
brings hope that by the time she's
old enough to have children of her
own,
science will have found new
therapies to treat or even prevent
the condition.
When I grow up, I want to be an
artist. I want to be a pastor.
I want to be a ballerina.
I want to make movies.
I'm not sure if doctors believe in
miracles, but I definitely do.
She's a miracle!
BBC channel, take 11!
What's so amazing about this story
of the heart on the outside is
it makes us stop and realize that
we're not just this shape
automatically.
In fact, there are a series of
really complex processes that make
us this way.
Now, if you peel back the human skin
and have a look underneath,
what you see is this network of
bone, muscle, organs,
vessels and nerves.
Central to it all is our heart and
with it, our lungs and the muscles
around them that we use to breathe.
All of them work together as a
finely tuned life-support system,
designed to keep our brains supplied
with oxygen round the clock.
If that supply fails, most of us
would suffer from irreversible brain
damage within three
minutes and die within five.
But there are some people who can
survive for much longer and that's
because their bodies can do
something amazing that scientists
have only recently discovered.
This is Veljano Zanki, he's broken
world records in free diving...
..a sport that involves diving to
astonishing depths without any oxygen.
Most of us would be gasping for air
after 30 seconds or so,
but Veljano has held his breath
underwater for over nine minutes.
It's no accident Veljano has come to
excel in this sport.
Here on the Croatian island of Vis
where he grew up,
there's a tradition of diving to
catch fish with spears.
Nobody wears a scuba tank.
The only oxygen they have onboard
is the last breath in their lungs.
It was this that led Veljano to take
up free diving as a sport.
He's now one of the best in the
world.
These impressive feats are possible
partly thanks to a reflex that we
humans share with marine mammals
like whales and dolphins.
It's called the
mammalian diving response.
As soon as we dive into cold water
our heart rate slows,
blood vessels narrow and blood flow
is diverted away from the surface
inwards to our brain,
heart and muscles to preserve energy
and precious oxygen.
But there's one thing the mammalian
diving response can't explain.
Our brain needs a constant supply of
fresh oxygen to survive.
So how can divers like Veljano go
for so long without oxygen?
To find out, scientists have been
studying what happens in their
bodies when they hold
their breath for a long time and
they've made an exciting discovery.
This is Zeljko Dujic, a professor of
physiology
at the University of Split.
Physiology of the breath hold diving
is really taking physiology to extremes.
We can compare breath hold divers to
somebody who is at Mount Everest peak.
We found out in our laboratory
studies very similar values.
The level of oxygen is
very, very low.
By studying free divers,
Professor Dujic has helped uncover
why they can hold their breath for
so long.
He's observed that when they begin
to run out of oxygen, the muscles
that control breathing,
the intercostal muscles between the
ribs and the diaphragm below,
go into a rhythmic spasm.
They are usually initially tiny,
small, and then at the end, they're
becoming more frequent and stronger
and stronger.
That is part of their survival
mechanism.
This is the body's last ditch
attempt to push blood to the brain
and keep it supplied with oxygen.
It's an automatic response, only
seen in extreme circumstances.
The purpose is to increase the blood
flow to the brain,
to get more blood and more fresh
oxygen to the brain cells and
protect the brain, that no brain
damage has occurred at the end of
the breath hold.
This crucial reflex finally explains
why free drivers can push their
bodies beyond the normal limits of
survival.
And Professor Dujic believes it
could have benefits in medicine.
He's trying to find a way of
simulating this emergency response
to help prevent brain damage after
cardiac arrest.
They're, for sure, extraordinary
people and next few decades we'll
continue working with them,
hopefully we'll help not only breath
hold divers per Se but general population
and millions of patients everywhere.
The story of the free divers makes
us realize just how robust and
resilient we are.
And if there's one thing that gives
us this strength,
it's this, our bone.
And this is the next vital part of
our body I'm going to look at.
Our skeleton is what gives us our
recognizable human shape.
The whole architecture of our body.
We tend to think of it as fixed and
unchanging,
but the reality's quite different.
We're constantly growing and
repairing bone, in fact,
we form a whole new skeleton every
ten years.
And one of the most fascinating
cases I've seen is where this
delicate balance has been disturbed.
Two roads diverged in a wood and I
took the one less traveled by...
..and that has made all the
difference.
Lines from her favorite poem
reflect the extraordinary life of
Jeannie Peeper.
My body has grown an extra skeleton.
Jeannie has a condition that causes
her body to grow new bone on top of
her skeleton.
She was a beautiful child,
beautiful child.
She liked to jump rope,
she liked to play football.
Anything that she wanted to do,
she did.
She did not have any hold backs.
My mom realized I was different from
her other children.
My mouth did not open as wide and it
wasn't until I was about
three-months-old that I started
having swellings on the back of my head.
Worried by this strange collection
of symptoms in her bones and joints,
Jeanie's parents took her to see
bone specialists.
She was about five, five-years-old
when they told us that
she would not live to be a teenager.
My husband and I talked it over and
we didn't know what to do about it.
Excuse me.
Jeanie suffers from an incredibly
rare disorder that only affects
one in two million people.
It's called Fibrodysplasia
ossificans progressiva, or FOP.
I didn't know that I had a
condition until I was about eight.
I was in fourth grade and I remember
it distinctly.
I woke up one morning and I was
unable to move my left wrist.
Jeanie's body grows new bone in
places where there should be soft
tissue, like muscle.
The slightest knock or bump is a
danger.
Where most of us would bruise and
then heal,
Jeanie's body starts to make new
bone on top of her existing bone
and the reason this causes such a
problem is because of the unique
properties of bone itself.
Two of the components that make bone
so remarkable
are calcium salts and protein.
To understand what they both do,
I'm going to take first
one away and then the other.
This is a chicken bone.
It looks hard, it feels strong...
..but look at this.
The reason why it smashes like that
is because I've burned away one of
the key components of bone in this
jar of bleach, here,
and what's been left is the calcium
salts, which are hard and brittle.
Now, here I've got another bone and
this one's been sitting in acid for
seven days, which has dissolved all
those calcium salts away.
And look at this one.
It's really bendy and flexible and
that's because all that's left in
this one is protein.
Now, you can see how if your bone
was like this,
there'd be absolutely no way it
would be able to support your weight.
You just wouldn't be able to stand
up.
Real living bone is a combination of
protein and calcium salts,
making a material that's a bit like
reinforced concrete.
Hard, but flexible.
Properties that are useful in the
right place,
but as they appeared at random in
Jeanie,
they caused her joints to lock and
her entire body to become more rigid.
At precisely this juncture where you
might expect a normal person
would've shut down their
options and just given up,
Jeanie decided that she wanted to
really do something about her
situation and her reaction to the
difficulties she was presented with,
was to reach out and form a community with
other people with the same condition as her.
And what they all desperately wanted
to find out was why their bodies
were growing a second skeleton and
was there a cure?
What they needed was someone with
the expertise to take up their cause
and find the answers.
Doctor Fred Kaplan is
an orthopedic surgeon.
Hi, Joey. How are you?
Good to see you.
As a young doctor he'd come across
FOP and the condition intrigued him.
FOP was the worst, the most
catastrophic condition
I'd ever encountered during my
entire medical school training,
residency training and, er,
I couldn't do anything about it.
This just looks like a single
nucleotide substitution.
It's in the coding region, so...
Uncovering the mysteries of this
condition to try and find its cause
has become his life's work.
Harry Eastlack was a patient
who had FOP
and willed his body to medicine.
I often go to the museum to see
Harry's skeleton, to observe it,
and each time I go
I learn something new.
To discover what caused FOP,
Doctor Kaplan needed to study as
many people with the rare condition
as he could find.
Jeannie Peeper's support group
gave him a unique opportunity.
Every single patient we saw, they
had a malformed toe, and interestingly,
the great toe is the last part of
the skeleton to form in the embryo.
It's as if the body gets to the end
of forming a skeleton and doesn't
form that last part properly
and then decides to form
a second skeleton.
Can you bend forward for me, Joe?
Blood samples showed that the FOP
patients all had too much of a
particular protein involved
in making bone.
The production of this protein
is controlled by our genes,
so it seemed likely a faulty gene
was causing the problem.
Because singing helps expand the
lungs and it actually helps...
Dr Kaplan knew that there was a
genetic mutation most likely behind
this incredibly rare condition
and he was leaving
no stone unturned.
Searching the literature,
he came across a paper
identifying a gene
that was causing a similar bone
condition in chickens.
And he was convinced
the two must be connected.
So he looked at the DNA of his patients
to see if they had the same faulty gene.
It's the kind of eureka moment that
scientists hope for
but rarely happens.
But this time, Dr Kaplan found
exactly what he was looking for -
the same error in the genes
of every one of his patients,
a single spelling mistake
in their entire DNA code.
One letter out of six billion.
That's not one needle
in one haystack,
that's one needle
in six billion haystacks.
It was an amazing finding
and it changed everything.
One of the first people I called
with the news was Jeannie.
I was elated.
I couldn't believe it.
And I told him it was truly
the greatest gift
of my life to have the gene
discovered in my lifetime.
I think she was crying on the phone.
First it was a stunned silence
and then, um...
er, almost disbelief.
Without Jeannie's help studying
this condition,
even embarking upon studying this
condition would have been almost impossible.
One could not have a better partner
in this work than Jeannie.
Here is the case of a woman who has
just single-handedly pushed things
forward because of her own
very difficult situation,
but also when you see a doctor
like Dr Kaplan,
you can see that he is a man who
single-mindedly
just wouldn't let this drop
and between this patient and this
doctor the most extraordinary
amount of progress has been made in
a very difficult disease
in a very short time.
There is no question in my mind that
all the ingredients are there
eventually for a cure.
I don't know when that will come
but it can't come
a minute too soon.
Dr Kaplan is convinced that curing
FOP will only be the beginning,
that this work will ultimately help
develop treatments for common bone
problems such as fractures
and osteoporosis.
We often think that common diseases
will help us understand rare ones.
Essentially, it's the other way
round.
Rare diseases help us understand
common ones.
The key to the closet
is the key to the kingdom.
Jeannie's case reminds us that the
skeleton is a finely balanced
piece of natural engineering.
It protects the vital organs beneath
it and it also provides a scaffold
on which are the muscles and other
soft tissues that enable us to move,
and then just under the skin there
is a layer of fat that cushions
and insulates our body.
Now, fat often gets
a really bad name,
but actually if it is absent
from our bodies,
the effect can be really dramatic,
as our next extraordinary
case shows.
Professional cyclists
are usually very lean.
But Tom takes this to extremes.
I'm Tom Staniford.
I'm one of eight people worldwide
with a very rare condition
that means I don't store
fat normally.
Tom's rare condition
is MDP syndrome.
One of its main features
is lipodystrophy,
which means his body physically
can't store fat under his skin
like the rest of us do.
And if that sounds like a blessing,
it isn't.
We all depend on fat for more
than we realize.
Without bending your knee, please
That's it.
People have a tendency to think that
having no body fat as a cyclist must
be great and it would be
a tremendous advantage,
but the reality is that
it's a big disadvantage.
Are you happy with that? Yeah.
If I come off, the risk of injury
is higher.
It's harder to get comfortable
in cold weather.
So because I have no body fat
around the joints,
my muscles are all naturally tight
and I have reduced flexibility
across all my joints.
In an age where people are obsessed
with losing weight and being thin,
it might seem as if what Tom has is
something that people might envy,
but in fact, the absolute
opposite is true.
OK, what can I get for you?
Could I please have a flat white?
And let's have a look at the menu.
Instead of hitting the cake,
Tom has to be particularly careful
with his diet.
I think I'd like to go for the
bubble and squeak, please, Grace.
OK.
From around 12 years old and
onwards,
I started to notice that my energy
levels were really fluctuating.
It turns out that I am actually
type two diabetic,
which was a big shock because
typically people
with type two diabetes are more
towards the obese side of things.
As you can see,
I'm not really obese.
Tom's body is a mystery.
On the one hand, he's not able to
store fat the way the rest of us do,
which makes him incredibly thin,
in fact, medically underweight,
and yet on the other hand,
he suffers from type two diabetes,
which is something we associate
with people who are overweight.
Tom needed someone who could
solve this conundrum.
Professor Andrew Hattersley
is an expert in diabetes at the
University of Exeter.
When he first met Tom, he was
convinced the clue
to his strange condition
must lie in his genes.
The way I like to think of this is
that Tom, like all of us,
has three billion bits of genetic
information.
But just one of those was wrong
in order to give him
all these problems.
So it was like going into a library
and trying to find a misspelled word
in one of those books.
And the problem was, if we did come
to a book and open it and find there
is a spelling mistake there,
we couldn't be sure that that was
the cause of Tom's problems.
As soon as we found another patient
with the exactly the same spelling
mistake, then that would really
make the diagnosis.
We needed that second case if we
were going to make progress.
But Professor Hattersley couldn't
find another case like Tom's.
It seemed he was unique.
And then a chance meeting
changed everything.
It was a visiting doctor from India
who told us that she had got a
patient and there was this
remarkable thing that we had
this young man about the same age
as Tom, who had exactly the same
physical appearance,
who had lipodystrophy.
So it was quite odd,
looking at almost a mirror image of
myself in an entirely different life
on the other side of the world.
What this meant was that
we now had a second case.
Now, Professor Hattersley could
compare Tom's genes
with the Indian patient's and
finally he made a breakthrough.
He identified a mutation in a gene
that was common to both men.
Now suddenly we could understand
why Tom had got diabetes,
why Tom had got the other things
as well,
and we had a test that allowed us to
pick out this syndrome
with all the other features.
Professor Hattersley had found
the cause of Tom's condition.
And to see exactly
how it affects the body,
he performed an MRI scan on Tom and
compared it to someone
who stored fat normally.
What we can see in the person who
doesn't have lipodystrophy,
is round the edge of the body,
there is a layer of fat and if you
look within the tummy itself,
there is very little fat shown
in the bright white.
And then if we look at Tom's
picture, and this is striking,
that round the edge
there really is no fat,
but within the tummy we can see
great accumulations of fat,
so this is absolutely fat
in the wrong place.
What this means is that even though
he can't store fat under his skin,
he stores abnormally high levels of
fat around his organs and it's
associated with type two diabetes,
and it's not a healthy situation.
And then if you remember the advice
I gave you early on, Tom.
Avoid the takeaways.
The revelation that Tom does have
fat in his body after all,
just in all the wrong places,
has changed his life.
One thing that Tom did brilliantly
was to increase his activity.
And as a national standard cyclist
with all the training that involved,
that helped as well as the diet to
keep the fat away
from the wrong places.
And with those two measures alone,
he has been able to almost remove
the need to take any medication,
and he has significantly improved
the level of abdominal fat that he has.
Understanding Tom's condition and
how he's managed to live with it
offers hope for the more than four
million people
with type two diabetes
across Britain.
Half the people with type two
diabetes that I see are not obese,
it's just that they are too fat
for their storage.
It has really helped me to see Tom,
who is about the most extreme case
of that that you could ever find
because by seeing that you really
can understand the much more general
idea of what's the problem
in type two diabetes.
All the cases we've looked at so far
have shown that there's a delicate
balance which is required for the
processes that build
the vital organs
and structures of our bodies.
But how does the body
know what form to take
and what direction to grow in?
Well, the answer is one of the
unsung heroes of the human body.
It's known as the endocrine,
or hormone system,
and as with so many things
in medicine,
one of the best ways to understand
how the endocrine system works
is to look what happens when some
part of it goes wrong.
The tallest man ever known was
Robert Wadlow from Alton, Illinois.
By the time he was nine, he was a
full head and shoulders taller
than his father and could carry
him up the stairs.
But this wasn't just a case of a boy
growing a bit taller than his friends.
In fact, Robert had an enlarged
pituitary gland
and it was pushing abnormally high
levels of growth hormone
to his body, forcing him to grow
at a colossal rate.
And by the time he died at the age
of 22,
he was eight foot 11 inches
tall and still growing.
As Robert Wadlow's case shows,
the endocrine system plays a crucial
role in how our body's built.
And it's made up of several
different glands.
Here we've got the adrenal glands
and up a bit higher here
we've got the thyroid gland
and we've got the pituitary gland
and this is like a
master control system,
so all of these glands send
different hormones around the body
at different times,
and by doing that,
the system controls our growth,
our development, our sleep
and even our mood.
And to appreciate the power these
hormones have on our bodies,
our next case shows how dramatically
the effect is
when the balance
is even slightly disturbed.
I'm a body confidence activist...
a model...
..and I'm a fabulous bearded lady.
Right.
My name is Harnaam Kaur
and I can grow a beard.
When you see Harnaam Kaur, it's not
just her amazing beard that strikes you.
It's also her confidence.
But to get here has been
a long and challenging journey.
So your whole body goes round and
you're looking over your shoulder.
I developed facial hair at the age
of ten years old.
I was bullied horrendously.
It was absolutely horrific.
I like the natural one.
Harnaam has a condition called
polycystic ovary syndrome or PCOS,
an imbalance in the hormones that
control her reproductive system.
In most women, the ovaries produce
just the right amounts of three
different hormones - estrogen,
progesterone, and testosterone,
a hormone found in high levels
in men.
But Harnaam's ovaries
produce too much testosterone,
and this is what triggers excess
hair to grow on her face.
When it first appeared, she tried
desperately to get rid of it.
I removed my facial hair
in many different ways.
I used to thread, wax,
shave, bleach.
I even used hair removal creams
as well.
But nothing Harnaam did stopped
the hair from growing back.
I remember sitting on my bed
absolutely ready to end it all.
I was just sick and tired.
I had the worst day in school.
And I thought, well, today is the
day I just want to go.
And I don't know how it happened but
I had a thought in my head.
I thought, well, if the bullies are
allowed to live,
why am I trying to end my life when
I have done nothing wrong?
Harnaam made a decision that would
change her life.
To accept that her body was
different and grow a beard.
The whole school saw me and they saw
what I was and who I was and I
thought, do you know?
If you want to live like this,
you have to keep on going at it.
And once you stick to something,
you've got to be strong.
If you're different,
you have to be strong.
Although Harnaam's is an extreme
case, around the world,
between 5% and 10% of women
of reproductive age have PCOS.
So why does it happen and why does
it cause symptoms
that are so
challenging to live with?
Stephen Franks is Professor of
Reproductive Endocrinology
at Imperial College London.
He's been investigating the
hormones involved in this
condition and the effects
of testosterone, in particular.
The testosterone levels in women
with polycystic ovary syndrome
are typically either slightly raised
or actually still within the upper
limits of the normal range,
so they're not screamingly high
and nowhere near the levels
in men, but high enough to cause the
problems that we see
with unwanted hair.
Professor Franks and his team
wondered if the root cause
of these hormone imbalances
might be genetic.
They're now part of a worldwide study
analyzing the genes of thousands of women.
The findings so far do show up
some genes that we would expect
to be involved, but a lot of others
that we didn't expect at all,
and that's the intriguing thing.
What do they mean,
we're asking ourselves,
and I think that's what's going to
provide us with further insights
into what causes the syndrome.
Professor Franks believes that
identifying the genes that are causing the
hormone imbalance will help tailor
new treatments to individual women.
We hope that the genetic studies
will lead to better methods
of diagnosis
and better methods of treatment.
It's a complex disorder, so I don't
think there'll be one cure.
Personalized medicine, if you like.
I hope in the future there is a lot
more answers
to why polycystic ovaries
happen in a woman's body,
how to overcome it
and maybe even a final cure.
Just one hand up.
Harnaam's case really brings home
the vital role hormones play
in controlling our body plan.
My beard has given me so much
strength.
It's given me a sense of identity,
a sense of self-worth.
She is my lady beard.
I've given her a persona.
She's going to be
ten years old next year
and I'm going to celebrate her
so much.
But, yeah, she's something that
I absolutely love and adore.
The human body is a complex network
of systems, all working together,
and in our final few cases,
we're going to look at the amazing
organ that coordinates them all.
The most crucial part
of our whole body plan.
The brain.
It's the command and
control center of the whole body,
keeping every part
of the plan working.
And there's a fascinating case that
shows us just how strongly wired
into our brains
that fundamental plan is.
Bryan Wagner has a condition
that's difficult for most of us to imagine.
He can feel pain in a limb
that's no longer there.
Something that shouldn't be
physically possible.
On December 17 2007,
I was serving in Baghdad, Iraq,
and we were out on a mission that
day and during the mission
we got blown up by a very large IED,
or improvised explosive device.
Bryan was evacuated back to the US
and had to have surgery
to amputate his right leg.
But strangely,
he continued to experience pain
as if his missing limb
was still there.
It is a condition
called phantom limb.
It feels like you're getting stabbed
in the arch of your foot
with a giant nail or
like your foot is in a vice
and someone's cranking down as
hard as they can or your
foot's on fire and there's nothing
you can do to save it.
Normally, we experience the
sensation of pain
when the nerves in the part
of the body that's been hurt
or damaged send pain signals
to the brain.
But after an amputation,
the nerves have gone,
along with the rest of the limb.
So how is it possible to feel pain
in a limb that isn't there?
One scientist has made it his
mission to understand this condition
and find a way to stop the pain.
I am V S Ramachandran and I study
the human brain using mirrors.
Professor V S Ramachandran is a
neuroscientist
at the University of
California, San Diego.
He's spent years investigating
what might cause these strange sensations.
His work has challenged long-held
ideas of how the brain works.
The original dogma when I was a
student was the notion
that connections in
the brain are laid down
in early infancy or even in fetal
life and once they are formed
there's nothing you can do to
change them.
Connections in the adult brain
are fixed and non-malleable.
Professor Ramachandran questioned
whether the brain
really was this rigid.
He wondered whether a change to the
body as drastic as losing a limb
might also cause changes
in the brain.
Other neuroscientists might have
used cutting edge technology
to test this idea, but instead,
Ramachandran used a cotton bud.
The first patient I saw was a
patient named Victor
and he had a vivid phantom left arm
and I tested him with a Q-tip
touching different parts of
his body.
He said, "You are touching
my chest,
"you are touching my left chest,
"my left shoulder, my right elbow."
Then when I came to the left
side of his face and I touched him,
he said, "Oh, my God, you're
touching my phantom thumb."
When Victor's face was touched,
he could feel his phantom hand
and Ramachandran
thought he knew why.
After the amputation,
Victor's brain had stopped receiving
signals from his left arm.
Now it was trying to restore those
signals by making new connections
with other parts of his body.
His brain had started to rewire
itself.
These experiments showed for the
first time that there is
a tremendous amount of malleability
in the adult brain.
This rewiring of the brain was
restoring a sense of touch
in the lost limb.
But there was one thing
it couldn't get over.
The limb is not actually there.
Even if the brain could trick
you into feeling it,
your eyes would never see
the phantom limb.
Ramachandran wondered if this
conflict between touch and sight
might be a trigger for the pain
amputees were experiencing.
Every time the brain sends a command,
it's getting a discrepancy in visual feedback,
saying that it's not moving
and the discrepancy itself
is partly experienced as pain.
Ramachandran had an idea that
if patients could see a limb
where their brain was telling them
they could feel one,
this might reduce the confusion
and the pain.
Now he needed a way to test
his theory.
So I said, let's use virtual
reality and then I realized
it's going to cost hundreds of
thousands of dollars,
but then I hit on a technique
of using a 2 mirror.
The idea was that the patient would
look at the reflection
of their intact limb in the mirror
to trick their brain into thinking
they could see their
missing limb once again.
Professor Ramachandran called it
mirror therapy.
I remember my first patient,
he chuckled, and he said, "My
phantom is moving again."
And I said, "Does it hurt or help?"
He said, "On the contrary it helps
me. It alleviates the phantom pain."
Since the early success of this
simple technique,
thousands of amputees all over the
world have benefited
from mirror therapy.
One of them is Bryan Wagner,
and he's about to meet Professor
Ramachandran for the first time.
I am absolutely stoked to meet
the professor that came up with this idea.
The guy who through all of his
medical training
was sitting in a room one day and
was like, "Hey, let's use a mirror."
That just blows my mind.
Good morning, sir.
After months of excruciating pain
in his phantom limb,
Bryan first tried mirror therapy
with a physiotherapist
who had heard of
Ramachandran's work.
It involved placing a mirror to make
it look as though Bryan still had
both his legs intact.
And asking him to think
about moving them.
I was thinking, "OK, let's just run
with this and see where it goes."
She said, "I want you to move your
real foot and then move
"your phantom foot." So I moved my
ankle up and down,
I wiggled my toes, in and out,
and I would do this for about
20 minutes, twice a day,
five days a week.
And I started noticing the pain
decreasing in time and intensity
about three weeks into actually
doing this study.
Examining Bryan for the first time,
Ramachandran explains
why his pain has reduced.
So you look in the mirror, what you
see is your brain sends a command to
the phantom, the phantom has been
resurrected optically using the mirror.
It's not really there, obviously.
But it looks like it's following
your commands again,
and thereby alleviate the pain.
After I ended mirror therapy,
my pain level went from eight to
nine out of ten
to down to like two to
three out of ten.
I don't think I would
be where I am if he didn't have an
idea to stick a mirror
between my legs...
..and move a fake foot around.
Professor Ramachandran's mirror
therapy has since been used
successfully on patients
with stroke and arthritis.
But perhaps his greatest
contribution has been
to transform the way we
think about the brain.
Thanks to Ramachandran's research
and the work of many other scientists,
we now understand the brain isn't
fixed and rigid from the time
we reach adulthood.
It continues to change and adapt
throughout our lives.
But there are some events so
catastrophic,
such as a fracture to the spine,
that this normal process of
adaptation simply can't take place.
And it's in one such case that I've
witnessed one of the most amazing
innovations in modern medicine.
I was a freshman in college.
I was majoring in business.
I really enjoyed playing lacrosse,
doing hiking with friends,
playing golf and kind of just being
your average college student.
Ian was a young man with everything
going for him.
Suddenly, his life completely
changed.
I was on vacation with a few
friends.
I was out in the ocean.
I dove into a wave and it pushed me
down into a sand bar
that I didn't see there so it wasn't
as deep as I thought it would be.
I instantly knew something was wrong
once I hit my head
and I couldn't get
up from the water.
What happened to Ian during that
accident was that he broke his neck.
And in that one moment,
he went from being a young man with
his entire life ahead of him
to a young man fighting for his life
in a hospital bed.
Almost impossible to imagine,
something so devastating.
After I had the surgery
to stabilize my spine,
I got the diagnosis from the doctor
that I was a quadriplegic.
I would have 99% chance
of never walking again.
Most likely not regaining
any use of my arms.
I would need to have
almost 24-7 care
just to go about my daily life.
With a fracture to the spine and
a severe spinal cord injury,
there is a complete loss of
communication between the brain
and the rest of the body.
And beyond
any other kind of injury,
this has always been thought
to be completely unfixable.
But Ian's case is challenging this,
thanks to a new idea that's come
out of the blue
and from someone who
isn't even a doctor.
Nick Annetta is an
electrical engineer.
He and his colleagues have developed
a new technology they hope might be
able to reconnect the brain and
the body after a spinal injury.
It is called a neural bypass.
So the neural bypass technology
can be thought of as
a detour around a traffic accident.
So the traffic can't flow any more
because it hits the accident
in the spinal cord,
so we create this detour from the
brain around the accident
then down to the muscles so that
traffic can flow again.
But this was just a concept
developed by engineers in a lab.
To find out if it would work
in a person,
Nick joined forces with neurosurgeon
Professor Ali Rezai
at the Ohio State University.
Together, they worked out it was
possible in theory,
but in practice they would need to
find a patient willing to undergo
radical brain surgery.
And I was all for it.
It was something that I was really
excited about,
but then came the million-dollar
question.
OK, well, can we crack your head
open and have brain surgery
that you don't really need?
But you can potentially regain use
of your arm
and help really push the
research further?
I decided to go
ahead and have the surgery.
It was a really special moment in
Ian's life when he was given an
opportunity by this very unusual
team of electrical engineers and
neurosurgeon, neuroscientists
to be their guinea pig.
What the team had planned
was truly radical.
They wanted to read the electrical
signals from Ian's brain
and use them to give him back the
ability to move.
In April 2014,
they opened up Ian's skull
and inserted a tiny chip into the
area of his brain
responsible for
hand movements.
It was an incredibly risky
procedure.
This is a major surgery that he had.
It might be kind of routine
for the neurosurgeons.
As an engineer, looking at someone's
skull opened up,
I was concerned for him, so once we
knew that he was doing all right,
then it became this waiting game of
when do we get
to connect up with Ian?
It took about a month for Ian to
recover from the surgery.
Only then could the engineers plug
into the device in Ian's brain
and start trying to read the
signals.
We started seeing signals like this.
Now, we had to learn the way Ian's
brain was talking
about each different motion,
so we asked Ian to think about a
particular motion like closing
his hand and then we would look at
the firing pattern
of the neurons for that motion.
And the machine learning algorithm
that we run would pick out
these subtly different patterns and
be able to recognize
these different motions.
Ian started visiting the university
three times a week for training
sessions. He watched hand movements
on a computer screen and tried to
imagine performing them
in painstaking detail,
while the computer attempted
to decipher his thoughts.
So after months and months of him
going through this training,
they then came to the day where they
wanted to try everything out
and see if it worked.
So a really amazing thing to see,
Ian on that day with the stimulator
wrapped around his arm,
each bit attached to different
muscles in his arm.
He was asked to try
and close his hand.
Good.
When we were able to first see that
motion of me just
opening and closing my hand,
based on my thought control,
it was extremely exciting.
That was something that I thought
I would never be able to do
since my accident.
It was a huge relief for us.
It meant that this was really going
to work and we really had something
here, but also very exciting
just to see Ian himself do this.
I couldn't think of somebody else
that I would want to see
do this more.
Ian has progressed with this
technology
from a C5 level where he has
some proximal movements
of his shoulder to a C7, C8,
where he has individual movements
of his fingers.
Which is remarkable and that has
never been shown before.
Doctors are always so cautious in
what they want to claim for progress,
but you can see the palpable
excitement.
The hope would be that if you can
improve the function of somebody
who was expected to have none,
how much more could
you do for other people?
How far could this be pushed?
At the moment, this system can
only be used in the lab,
but the goal is to make it wireless
so that Ian can use it at home,
providing a permanent link
between his brain and his body.
The biggest reason I want to regain
use of my hands,
using the bypass system,
is so I can live on my own.
Maintaining my independence lets me
feel like myself again.
And being able to drive my car or
being able to do certain things for
myself and I don't have to rely
on other people,
it really makes me feel good about
myself and know there's really not
anything holding me back,
or any big limitation on my life.
The human body plan is unique
within nature
and unique to each one of us
and the most extraordinary people on
the planet are those
who are helping
to unlock its mysteries.
Next time, I'll reveal how the human
body can adapt
to the most extreme environments.
Feels good.
And survive against incredible odds.
Having an entire hemisphere of your
brain removed
is a pretty radical thing.
It's a world full
of extraordinary people.
about the human body all the time,
through people who are different
from most.
I'm Gabriel Weston.
As a surgeon, I've spent years
studying the human body.
And the secrets of how it works are
often revealed
by the most rare and surprising of
cases.
So I've searched the world to find
these extraordinary people
and bring you their stories.
This is my heart. I'm the only one
that has this.
I'm Jordy Cernik and I can't feel
fear.
My name is Harnaam Kaur and I'm a
fabulous bearded lady.
With the help of the doctors that
treat them
and some of the world's leading
scientists,
I'll be uncovering exactly what
makes their bodies unique.
I'm going to show you the hidden
processes that make them
exceptional.
Just look at that!
I'll discover how they're leading us
to the cures of the future.
When we make a breakthrough like
this it is very exciting.
And I'll use the latest technology
to uncover the secrets of their
bodies
and reveal how all of these cases
are giving us a new understanding of
the most amazing natural machine on
the planet -
the human body.
Every one of us is built to the same
fundamental and familiar blueprint.
We take for granted the shape and
form of our body.
It's what makes us recognizably
human,
shared across the species and the
planet.
But there are some extraordinary
people
who don't follow that universal
plan.
In this program, we'll discover
why this man doesn't have an ounce
of fat on his body...
..why this woman is growing a second
skeleton...
..why this man grew to be the
tallest in history...
..and why this man can survive
underwater for nine minutes
without taking a single breath.
All of these cases are bringing
astonishing new insights into how
the body's built and how it works,
and the first few cases we'll look
at involve some of the most vital
systems that keep us alive.
HIP-HOP MUSIC PLAYS
Seven-year-old Virsaviya loves to
pull shapes on the dance floor.
But Virsaviya was born
extraordinary.
This is my heart.
I'm the only one that has this.
Virsaviya was born with a condition
called Pentalogy of Cantrell that
only occurs in just five per
million,
and what it means is that Virsaviya
was born with her heart not inside
the ribcage where it would be
protected,
but on the outside, just under the
skin.
When I'm getting dressed I put soft
clothes on to not hurt my heart and
I just walk around, I jump, I fly.
I run. Well, I'm not supposed to
run,
but I love running!
When Virsaviya was born in
Novorossiysk in Russia,
doctors warned her mother, Dari, to
prepare for the worst.
Doctors told me that Virsaviya have
really rare condition,
but they said she won't survive.
When I saw first time how her heart
was beating,
of course to me it was something
special. It meant that Virsaviya is
alive and she can breathe and she
can live.
Dari moved all the way from Russia
to America and her hope in doing
that was that her daughter would be
able to have an operation to put
things
back where they should be.
But unfortunately and very
disappointingly for Dari,
she was told that Virsaviya just
wasn't strong enough because of
problems
with her blood pressure.
We came from Russia to
United States.
Doctors check her and they said they
cannot help her.
I was really upset about that,
because they kept telling me she
will die soon.
It's not easy for Virsaviya to live
with heart on the outside because
it's really fragile and she has to
be careful.
Of course, she can fall and it can
be really, really dangerous.
She can die from that.
When you first see Virsaviya,
what you instantly want to know is
how is this possible,
how has her heart formed on the
outside of her ribcage?
Well, until recently,
it was a complete mystery, and then
the first vital clue came from a
scientist working in a completely
different field altogether.
Dr Bob Edelstein is a molecular
biologist.
He spent years studying a protein
called myosin,
a substance that's crucial to our
growth and development from the
earliest days as an embryo in the
womb.
Myosin is essentially present in
every single cell of the body.
It is able to change the shape of
the cell.
It's able to allow the cells to
move.
In fact, plays a very important role
in cell division.
Myosin has lots of functions within
the body,
but one of them is involved
in embryonic development.
Myosin enables cells to migrate to
and end up in the positions where
they need to be.
To learn more about what myosin
does,
Edelstein's team did an experiment
in mice where they altered a gene to
stop it being produced in the mouse
embryo.
The results were completely
unexpected.
Without myosin, the mouse's body
plan had gone dramatically wrong.
When we made that mutation we found
that the mouse was born with its
heart outside the body.
This was quite extraordinary!
We'd never seen anything like this
before.
But purely by chance,
there was someone in the room who
had seen this before,
and knew exactly what Dr Edelstein
was looking at.
At the time, there was a pediatric
cardiologist
who was standing right behind me and
said,
"Oh, I know what that is.
That's Pentalogy of Cantrell."
I found it very exciting.
It raised the opportunity for the
first time to actually maybe try to
do something for people who are ill.
Although the gene that's involved in
the malformation in mice may not be
the only one involved in
human development,
it has provided Dr Edelstein
with an important clue.
Now the team are studying the human
genes that make myosin and other key
proteins known to be involved in
laying down the body plan
in an embryo.
This is a network of genes which are
making proteins that are interacting
with each other and that interaction
has to occur at the proper time and
in a proper way in order for the
heart to be placed properly inside
of the body.
And that secret is what we're
trying to uncover.
Doctor Edelstein is now searching
exhaustively through the DNA of
people
with Pentalogy of Cantrell to try
and identify what gene, or what
series of genes,
might be a problem.
To do that, he needs saliva samples
from people like Virsaviya and their
relatives. Oh, my saliva is pink!
Cool beans!
It was quite clear to me that
Virsaviya was very enthusiastic.
I also got the impression she was a
fighter and that she really wanted
to see this through and we don't
know that we'll be able to deliver a
cure in the immediate future by any
means,
but what we would be able to tell is
the likelihood of their next child
having a similar kind of syndrome.
As Virsaviya grows older and
stronger,
it may yet be possible to perform
surgery on her heart.
And work like Doctor Edelstein's
brings hope that by the time she's
old enough to have children of her
own,
science will have found new
therapies to treat or even prevent
the condition.
When I grow up, I want to be an
artist. I want to be a pastor.
I want to be a ballerina.
I want to make movies.
I'm not sure if doctors believe in
miracles, but I definitely do.
She's a miracle!
BBC channel, take 11!
What's so amazing about this story
of the heart on the outside is
it makes us stop and realize that
we're not just this shape
automatically.
In fact, there are a series of
really complex processes that make
us this way.
Now, if you peel back the human skin
and have a look underneath,
what you see is this network of
bone, muscle, organs,
vessels and nerves.
Central to it all is our heart and
with it, our lungs and the muscles
around them that we use to breathe.
All of them work together as a
finely tuned life-support system,
designed to keep our brains supplied
with oxygen round the clock.
If that supply fails, most of us
would suffer from irreversible brain
damage within three
minutes and die within five.
But there are some people who can
survive for much longer and that's
because their bodies can do
something amazing that scientists
have only recently discovered.
This is Veljano Zanki, he's broken
world records in free diving...
..a sport that involves diving to
astonishing depths without any oxygen.
Most of us would be gasping for air
after 30 seconds or so,
but Veljano has held his breath
underwater for over nine minutes.
It's no accident Veljano has come to
excel in this sport.
Here on the Croatian island of Vis
where he grew up,
there's a tradition of diving to
catch fish with spears.
Nobody wears a scuba tank.
The only oxygen they have onboard
is the last breath in their lungs.
It was this that led Veljano to take
up free diving as a sport.
He's now one of the best in the
world.
These impressive feats are possible
partly thanks to a reflex that we
humans share with marine mammals
like whales and dolphins.
It's called the
mammalian diving response.
As soon as we dive into cold water
our heart rate slows,
blood vessels narrow and blood flow
is diverted away from the surface
inwards to our brain,
heart and muscles to preserve energy
and precious oxygen.
But there's one thing the mammalian
diving response can't explain.
Our brain needs a constant supply of
fresh oxygen to survive.
So how can divers like Veljano go
for so long without oxygen?
To find out, scientists have been
studying what happens in their
bodies when they hold
their breath for a long time and
they've made an exciting discovery.
This is Zeljko Dujic, a professor of
physiology
at the University of Split.
Physiology of the breath hold diving
is really taking physiology to extremes.
We can compare breath hold divers to
somebody who is at Mount Everest peak.
We found out in our laboratory
studies very similar values.
The level of oxygen is
very, very low.
By studying free divers,
Professor Dujic has helped uncover
why they can hold their breath for
so long.
He's observed that when they begin
to run out of oxygen, the muscles
that control breathing,
the intercostal muscles between the
ribs and the diaphragm below,
go into a rhythmic spasm.
They are usually initially tiny,
small, and then at the end, they're
becoming more frequent and stronger
and stronger.
That is part of their survival
mechanism.
This is the body's last ditch
attempt to push blood to the brain
and keep it supplied with oxygen.
It's an automatic response, only
seen in extreme circumstances.
The purpose is to increase the blood
flow to the brain,
to get more blood and more fresh
oxygen to the brain cells and
protect the brain, that no brain
damage has occurred at the end of
the breath hold.
This crucial reflex finally explains
why free drivers can push their
bodies beyond the normal limits of
survival.
And Professor Dujic believes it
could have benefits in medicine.
He's trying to find a way of
simulating this emergency response
to help prevent brain damage after
cardiac arrest.
They're, for sure, extraordinary
people and next few decades we'll
continue working with them,
hopefully we'll help not only breath
hold divers per Se but general population
and millions of patients everywhere.
The story of the free divers makes
us realize just how robust and
resilient we are.
And if there's one thing that gives
us this strength,
it's this, our bone.
And this is the next vital part of
our body I'm going to look at.
Our skeleton is what gives us our
recognizable human shape.
The whole architecture of our body.
We tend to think of it as fixed and
unchanging,
but the reality's quite different.
We're constantly growing and
repairing bone, in fact,
we form a whole new skeleton every
ten years.
And one of the most fascinating
cases I've seen is where this
delicate balance has been disturbed.
Two roads diverged in a wood and I
took the one less traveled by...
..and that has made all the
difference.
Lines from her favorite poem
reflect the extraordinary life of
Jeannie Peeper.
My body has grown an extra skeleton.
Jeannie has a condition that causes
her body to grow new bone on top of
her skeleton.
She was a beautiful child,
beautiful child.
She liked to jump rope,
she liked to play football.
Anything that she wanted to do,
she did.
She did not have any hold backs.
My mom realized I was different from
her other children.
My mouth did not open as wide and it
wasn't until I was about
three-months-old that I started
having swellings on the back of my head.
Worried by this strange collection
of symptoms in her bones and joints,
Jeanie's parents took her to see
bone specialists.
She was about five, five-years-old
when they told us that
she would not live to be a teenager.
My husband and I talked it over and
we didn't know what to do about it.
Excuse me.
Jeanie suffers from an incredibly
rare disorder that only affects
one in two million people.
It's called Fibrodysplasia
ossificans progressiva, or FOP.
I didn't know that I had a
condition until I was about eight.
I was in fourth grade and I remember
it distinctly.
I woke up one morning and I was
unable to move my left wrist.
Jeanie's body grows new bone in
places where there should be soft
tissue, like muscle.
The slightest knock or bump is a
danger.
Where most of us would bruise and
then heal,
Jeanie's body starts to make new
bone on top of her existing bone
and the reason this causes such a
problem is because of the unique
properties of bone itself.
Two of the components that make bone
so remarkable
are calcium salts and protein.
To understand what they both do,
I'm going to take first
one away and then the other.
This is a chicken bone.
It looks hard, it feels strong...
..but look at this.
The reason why it smashes like that
is because I've burned away one of
the key components of bone in this
jar of bleach, here,
and what's been left is the calcium
salts, which are hard and brittle.
Now, here I've got another bone and
this one's been sitting in acid for
seven days, which has dissolved all
those calcium salts away.
And look at this one.
It's really bendy and flexible and
that's because all that's left in
this one is protein.
Now, you can see how if your bone
was like this,
there'd be absolutely no way it
would be able to support your weight.
You just wouldn't be able to stand
up.
Real living bone is a combination of
protein and calcium salts,
making a material that's a bit like
reinforced concrete.
Hard, but flexible.
Properties that are useful in the
right place,
but as they appeared at random in
Jeanie,
they caused her joints to lock and
her entire body to become more rigid.
At precisely this juncture where you
might expect a normal person
would've shut down their
options and just given up,
Jeanie decided that she wanted to
really do something about her
situation and her reaction to the
difficulties she was presented with,
was to reach out and form a community with
other people with the same condition as her.
And what they all desperately wanted
to find out was why their bodies
were growing a second skeleton and
was there a cure?
What they needed was someone with
the expertise to take up their cause
and find the answers.
Doctor Fred Kaplan is
an orthopedic surgeon.
Hi, Joey. How are you?
Good to see you.
As a young doctor he'd come across
FOP and the condition intrigued him.
FOP was the worst, the most
catastrophic condition
I'd ever encountered during my
entire medical school training,
residency training and, er,
I couldn't do anything about it.
This just looks like a single
nucleotide substitution.
It's in the coding region, so...
Uncovering the mysteries of this
condition to try and find its cause
has become his life's work.
Harry Eastlack was a patient
who had FOP
and willed his body to medicine.
I often go to the museum to see
Harry's skeleton, to observe it,
and each time I go
I learn something new.
To discover what caused FOP,
Doctor Kaplan needed to study as
many people with the rare condition
as he could find.
Jeannie Peeper's support group
gave him a unique opportunity.
Every single patient we saw, they
had a malformed toe, and interestingly,
the great toe is the last part of
the skeleton to form in the embryo.
It's as if the body gets to the end
of forming a skeleton and doesn't
form that last part properly
and then decides to form
a second skeleton.
Can you bend forward for me, Joe?
Blood samples showed that the FOP
patients all had too much of a
particular protein involved
in making bone.
The production of this protein
is controlled by our genes,
so it seemed likely a faulty gene
was causing the problem.
Because singing helps expand the
lungs and it actually helps...
Dr Kaplan knew that there was a
genetic mutation most likely behind
this incredibly rare condition
and he was leaving
no stone unturned.
Searching the literature,
he came across a paper
identifying a gene
that was causing a similar bone
condition in chickens.
And he was convinced
the two must be connected.
So he looked at the DNA of his patients
to see if they had the same faulty gene.
It's the kind of eureka moment that
scientists hope for
but rarely happens.
But this time, Dr Kaplan found
exactly what he was looking for -
the same error in the genes
of every one of his patients,
a single spelling mistake
in their entire DNA code.
One letter out of six billion.
That's not one needle
in one haystack,
that's one needle
in six billion haystacks.
It was an amazing finding
and it changed everything.
One of the first people I called
with the news was Jeannie.
I was elated.
I couldn't believe it.
And I told him it was truly
the greatest gift
of my life to have the gene
discovered in my lifetime.
I think she was crying on the phone.
First it was a stunned silence
and then, um...
er, almost disbelief.
Without Jeannie's help studying
this condition,
even embarking upon studying this
condition would have been almost impossible.
One could not have a better partner
in this work than Jeannie.
Here is the case of a woman who has
just single-handedly pushed things
forward because of her own
very difficult situation,
but also when you see a doctor
like Dr Kaplan,
you can see that he is a man who
single-mindedly
just wouldn't let this drop
and between this patient and this
doctor the most extraordinary
amount of progress has been made in
a very difficult disease
in a very short time.
There is no question in my mind that
all the ingredients are there
eventually for a cure.
I don't know when that will come
but it can't come
a minute too soon.
Dr Kaplan is convinced that curing
FOP will only be the beginning,
that this work will ultimately help
develop treatments for common bone
problems such as fractures
and osteoporosis.
We often think that common diseases
will help us understand rare ones.
Essentially, it's the other way
round.
Rare diseases help us understand
common ones.
The key to the closet
is the key to the kingdom.
Jeannie's case reminds us that the
skeleton is a finely balanced
piece of natural engineering.
It protects the vital organs beneath
it and it also provides a scaffold
on which are the muscles and other
soft tissues that enable us to move,
and then just under the skin there
is a layer of fat that cushions
and insulates our body.
Now, fat often gets
a really bad name,
but actually if it is absent
from our bodies,
the effect can be really dramatic,
as our next extraordinary
case shows.
Professional cyclists
are usually very lean.
But Tom takes this to extremes.
I'm Tom Staniford.
I'm one of eight people worldwide
with a very rare condition
that means I don't store
fat normally.
Tom's rare condition
is MDP syndrome.
One of its main features
is lipodystrophy,
which means his body physically
can't store fat under his skin
like the rest of us do.
And if that sounds like a blessing,
it isn't.
We all depend on fat for more
than we realize.
Without bending your knee, please
That's it.
People have a tendency to think that
having no body fat as a cyclist must
be great and it would be
a tremendous advantage,
but the reality is that
it's a big disadvantage.
Are you happy with that? Yeah.
If I come off, the risk of injury
is higher.
It's harder to get comfortable
in cold weather.
So because I have no body fat
around the joints,
my muscles are all naturally tight
and I have reduced flexibility
across all my joints.
In an age where people are obsessed
with losing weight and being thin,
it might seem as if what Tom has is
something that people might envy,
but in fact, the absolute
opposite is true.
OK, what can I get for you?
Could I please have a flat white?
And let's have a look at the menu.
Instead of hitting the cake,
Tom has to be particularly careful
with his diet.
I think I'd like to go for the
bubble and squeak, please, Grace.
OK.
From around 12 years old and
onwards,
I started to notice that my energy
levels were really fluctuating.
It turns out that I am actually
type two diabetic,
which was a big shock because
typically people
with type two diabetes are more
towards the obese side of things.
As you can see,
I'm not really obese.
Tom's body is a mystery.
On the one hand, he's not able to
store fat the way the rest of us do,
which makes him incredibly thin,
in fact, medically underweight,
and yet on the other hand,
he suffers from type two diabetes,
which is something we associate
with people who are overweight.
Tom needed someone who could
solve this conundrum.
Professor Andrew Hattersley
is an expert in diabetes at the
University of Exeter.
When he first met Tom, he was
convinced the clue
to his strange condition
must lie in his genes.
The way I like to think of this is
that Tom, like all of us,
has three billion bits of genetic
information.
But just one of those was wrong
in order to give him
all these problems.
So it was like going into a library
and trying to find a misspelled word
in one of those books.
And the problem was, if we did come
to a book and open it and find there
is a spelling mistake there,
we couldn't be sure that that was
the cause of Tom's problems.
As soon as we found another patient
with the exactly the same spelling
mistake, then that would really
make the diagnosis.
We needed that second case if we
were going to make progress.
But Professor Hattersley couldn't
find another case like Tom's.
It seemed he was unique.
And then a chance meeting
changed everything.
It was a visiting doctor from India
who told us that she had got a
patient and there was this
remarkable thing that we had
this young man about the same age
as Tom, who had exactly the same
physical appearance,
who had lipodystrophy.
So it was quite odd,
looking at almost a mirror image of
myself in an entirely different life
on the other side of the world.
What this meant was that
we now had a second case.
Now, Professor Hattersley could
compare Tom's genes
with the Indian patient's and
finally he made a breakthrough.
He identified a mutation in a gene
that was common to both men.
Now suddenly we could understand
why Tom had got diabetes,
why Tom had got the other things
as well,
and we had a test that allowed us to
pick out this syndrome
with all the other features.
Professor Hattersley had found
the cause of Tom's condition.
And to see exactly
how it affects the body,
he performed an MRI scan on Tom and
compared it to someone
who stored fat normally.
What we can see in the person who
doesn't have lipodystrophy,
is round the edge of the body,
there is a layer of fat and if you
look within the tummy itself,
there is very little fat shown
in the bright white.
And then if we look at Tom's
picture, and this is striking,
that round the edge
there really is no fat,
but within the tummy we can see
great accumulations of fat,
so this is absolutely fat
in the wrong place.
What this means is that even though
he can't store fat under his skin,
he stores abnormally high levels of
fat around his organs and it's
associated with type two diabetes,
and it's not a healthy situation.
And then if you remember the advice
I gave you early on, Tom.
Avoid the takeaways.
The revelation that Tom does have
fat in his body after all,
just in all the wrong places,
has changed his life.
One thing that Tom did brilliantly
was to increase his activity.
And as a national standard cyclist
with all the training that involved,
that helped as well as the diet to
keep the fat away
from the wrong places.
And with those two measures alone,
he has been able to almost remove
the need to take any medication,
and he has significantly improved
the level of abdominal fat that he has.
Understanding Tom's condition and
how he's managed to live with it
offers hope for the more than four
million people
with type two diabetes
across Britain.
Half the people with type two
diabetes that I see are not obese,
it's just that they are too fat
for their storage.
It has really helped me to see Tom,
who is about the most extreme case
of that that you could ever find
because by seeing that you really
can understand the much more general
idea of what's the problem
in type two diabetes.
All the cases we've looked at so far
have shown that there's a delicate
balance which is required for the
processes that build
the vital organs
and structures of our bodies.
But how does the body
know what form to take
and what direction to grow in?
Well, the answer is one of the
unsung heroes of the human body.
It's known as the endocrine,
or hormone system,
and as with so many things
in medicine,
one of the best ways to understand
how the endocrine system works
is to look what happens when some
part of it goes wrong.
The tallest man ever known was
Robert Wadlow from Alton, Illinois.
By the time he was nine, he was a
full head and shoulders taller
than his father and could carry
him up the stairs.
But this wasn't just a case of a boy
growing a bit taller than his friends.
In fact, Robert had an enlarged
pituitary gland
and it was pushing abnormally high
levels of growth hormone
to his body, forcing him to grow
at a colossal rate.
And by the time he died at the age
of 22,
he was eight foot 11 inches
tall and still growing.
As Robert Wadlow's case shows,
the endocrine system plays a crucial
role in how our body's built.
And it's made up of several
different glands.
Here we've got the adrenal glands
and up a bit higher here
we've got the thyroid gland
and we've got the pituitary gland
and this is like a
master control system,
so all of these glands send
different hormones around the body
at different times,
and by doing that,
the system controls our growth,
our development, our sleep
and even our mood.
And to appreciate the power these
hormones have on our bodies,
our next case shows how dramatically
the effect is
when the balance
is even slightly disturbed.
I'm a body confidence activist...
a model...
..and I'm a fabulous bearded lady.
Right.
My name is Harnaam Kaur
and I can grow a beard.
When you see Harnaam Kaur, it's not
just her amazing beard that strikes you.
It's also her confidence.
But to get here has been
a long and challenging journey.
So your whole body goes round and
you're looking over your shoulder.
I developed facial hair at the age
of ten years old.
I was bullied horrendously.
It was absolutely horrific.
I like the natural one.
Harnaam has a condition called
polycystic ovary syndrome or PCOS,
an imbalance in the hormones that
control her reproductive system.
In most women, the ovaries produce
just the right amounts of three
different hormones - estrogen,
progesterone, and testosterone,
a hormone found in high levels
in men.
But Harnaam's ovaries
produce too much testosterone,
and this is what triggers excess
hair to grow on her face.
When it first appeared, she tried
desperately to get rid of it.
I removed my facial hair
in many different ways.
I used to thread, wax,
shave, bleach.
I even used hair removal creams
as well.
But nothing Harnaam did stopped
the hair from growing back.
I remember sitting on my bed
absolutely ready to end it all.
I was just sick and tired.
I had the worst day in school.
And I thought, well, today is the
day I just want to go.
And I don't know how it happened but
I had a thought in my head.
I thought, well, if the bullies are
allowed to live,
why am I trying to end my life when
I have done nothing wrong?
Harnaam made a decision that would
change her life.
To accept that her body was
different and grow a beard.
The whole school saw me and they saw
what I was and who I was and I
thought, do you know?
If you want to live like this,
you have to keep on going at it.
And once you stick to something,
you've got to be strong.
If you're different,
you have to be strong.
Although Harnaam's is an extreme
case, around the world,
between 5% and 10% of women
of reproductive age have PCOS.
So why does it happen and why does
it cause symptoms
that are so
challenging to live with?
Stephen Franks is Professor of
Reproductive Endocrinology
at Imperial College London.
He's been investigating the
hormones involved in this
condition and the effects
of testosterone, in particular.
The testosterone levels in women
with polycystic ovary syndrome
are typically either slightly raised
or actually still within the upper
limits of the normal range,
so they're not screamingly high
and nowhere near the levels
in men, but high enough to cause the
problems that we see
with unwanted hair.
Professor Franks and his team
wondered if the root cause
of these hormone imbalances
might be genetic.
They're now part of a worldwide study
analyzing the genes of thousands of women.
The findings so far do show up
some genes that we would expect
to be involved, but a lot of others
that we didn't expect at all,
and that's the intriguing thing.
What do they mean,
we're asking ourselves,
and I think that's what's going to
provide us with further insights
into what causes the syndrome.
Professor Franks believes that
identifying the genes that are causing the
hormone imbalance will help tailor
new treatments to individual women.
We hope that the genetic studies
will lead to better methods
of diagnosis
and better methods of treatment.
It's a complex disorder, so I don't
think there'll be one cure.
Personalized medicine, if you like.
I hope in the future there is a lot
more answers
to why polycystic ovaries
happen in a woman's body,
how to overcome it
and maybe even a final cure.
Just one hand up.
Harnaam's case really brings home
the vital role hormones play
in controlling our body plan.
My beard has given me so much
strength.
It's given me a sense of identity,
a sense of self-worth.
She is my lady beard.
I've given her a persona.
She's going to be
ten years old next year
and I'm going to celebrate her
so much.
But, yeah, she's something that
I absolutely love and adore.
The human body is a complex network
of systems, all working together,
and in our final few cases,
we're going to look at the amazing
organ that coordinates them all.
The most crucial part
of our whole body plan.
The brain.
It's the command and
control center of the whole body,
keeping every part
of the plan working.
And there's a fascinating case that
shows us just how strongly wired
into our brains
that fundamental plan is.
Bryan Wagner has a condition
that's difficult for most of us to imagine.
He can feel pain in a limb
that's no longer there.
Something that shouldn't be
physically possible.
On December 17 2007,
I was serving in Baghdad, Iraq,
and we were out on a mission that
day and during the mission
we got blown up by a very large IED,
or improvised explosive device.
Bryan was evacuated back to the US
and had to have surgery
to amputate his right leg.
But strangely,
he continued to experience pain
as if his missing limb
was still there.
It is a condition
called phantom limb.
It feels like you're getting stabbed
in the arch of your foot
with a giant nail or
like your foot is in a vice
and someone's cranking down as
hard as they can or your
foot's on fire and there's nothing
you can do to save it.
Normally, we experience the
sensation of pain
when the nerves in the part
of the body that's been hurt
or damaged send pain signals
to the brain.
But after an amputation,
the nerves have gone,
along with the rest of the limb.
So how is it possible to feel pain
in a limb that isn't there?
One scientist has made it his
mission to understand this condition
and find a way to stop the pain.
I am V S Ramachandran and I study
the human brain using mirrors.
Professor V S Ramachandran is a
neuroscientist
at the University of
California, San Diego.
He's spent years investigating
what might cause these strange sensations.
His work has challenged long-held
ideas of how the brain works.
The original dogma when I was a
student was the notion
that connections in
the brain are laid down
in early infancy or even in fetal
life and once they are formed
there's nothing you can do to
change them.
Connections in the adult brain
are fixed and non-malleable.
Professor Ramachandran questioned
whether the brain
really was this rigid.
He wondered whether a change to the
body as drastic as losing a limb
might also cause changes
in the brain.
Other neuroscientists might have
used cutting edge technology
to test this idea, but instead,
Ramachandran used a cotton bud.
The first patient I saw was a
patient named Victor
and he had a vivid phantom left arm
and I tested him with a Q-tip
touching different parts of
his body.
He said, "You are touching
my chest,
"you are touching my left chest,
"my left shoulder, my right elbow."
Then when I came to the left
side of his face and I touched him,
he said, "Oh, my God, you're
touching my phantom thumb."
When Victor's face was touched,
he could feel his phantom hand
and Ramachandran
thought he knew why.
After the amputation,
Victor's brain had stopped receiving
signals from his left arm.
Now it was trying to restore those
signals by making new connections
with other parts of his body.
His brain had started to rewire
itself.
These experiments showed for the
first time that there is
a tremendous amount of malleability
in the adult brain.
This rewiring of the brain was
restoring a sense of touch
in the lost limb.
But there was one thing
it couldn't get over.
The limb is not actually there.
Even if the brain could trick
you into feeling it,
your eyes would never see
the phantom limb.
Ramachandran wondered if this
conflict between touch and sight
might be a trigger for the pain
amputees were experiencing.
Every time the brain sends a command,
it's getting a discrepancy in visual feedback,
saying that it's not moving
and the discrepancy itself
is partly experienced as pain.
Ramachandran had an idea that
if patients could see a limb
where their brain was telling them
they could feel one,
this might reduce the confusion
and the pain.
Now he needed a way to test
his theory.
So I said, let's use virtual
reality and then I realized
it's going to cost hundreds of
thousands of dollars,
but then I hit on a technique
of using a 2 mirror.
The idea was that the patient would
look at the reflection
of their intact limb in the mirror
to trick their brain into thinking
they could see their
missing limb once again.
Professor Ramachandran called it
mirror therapy.
I remember my first patient,
he chuckled, and he said, "My
phantom is moving again."
And I said, "Does it hurt or help?"
He said, "On the contrary it helps
me. It alleviates the phantom pain."
Since the early success of this
simple technique,
thousands of amputees all over the
world have benefited
from mirror therapy.
One of them is Bryan Wagner,
and he's about to meet Professor
Ramachandran for the first time.
I am absolutely stoked to meet
the professor that came up with this idea.
The guy who through all of his
medical training
was sitting in a room one day and
was like, "Hey, let's use a mirror."
That just blows my mind.
Good morning, sir.
After months of excruciating pain
in his phantom limb,
Bryan first tried mirror therapy
with a physiotherapist
who had heard of
Ramachandran's work.
It involved placing a mirror to make
it look as though Bryan still had
both his legs intact.
And asking him to think
about moving them.
I was thinking, "OK, let's just run
with this and see where it goes."
She said, "I want you to move your
real foot and then move
"your phantom foot." So I moved my
ankle up and down,
I wiggled my toes, in and out,
and I would do this for about
20 minutes, twice a day,
five days a week.
And I started noticing the pain
decreasing in time and intensity
about three weeks into actually
doing this study.
Examining Bryan for the first time,
Ramachandran explains
why his pain has reduced.
So you look in the mirror, what you
see is your brain sends a command to
the phantom, the phantom has been
resurrected optically using the mirror.
It's not really there, obviously.
But it looks like it's following
your commands again,
and thereby alleviate the pain.
After I ended mirror therapy,
my pain level went from eight to
nine out of ten
to down to like two to
three out of ten.
I don't think I would
be where I am if he didn't have an
idea to stick a mirror
between my legs...
..and move a fake foot around.
Professor Ramachandran's mirror
therapy has since been used
successfully on patients
with stroke and arthritis.
But perhaps his greatest
contribution has been
to transform the way we
think about the brain.
Thanks to Ramachandran's research
and the work of many other scientists,
we now understand the brain isn't
fixed and rigid from the time
we reach adulthood.
It continues to change and adapt
throughout our lives.
But there are some events so
catastrophic,
such as a fracture to the spine,
that this normal process of
adaptation simply can't take place.
And it's in one such case that I've
witnessed one of the most amazing
innovations in modern medicine.
I was a freshman in college.
I was majoring in business.
I really enjoyed playing lacrosse,
doing hiking with friends,
playing golf and kind of just being
your average college student.
Ian was a young man with everything
going for him.
Suddenly, his life completely
changed.
I was on vacation with a few
friends.
I was out in the ocean.
I dove into a wave and it pushed me
down into a sand bar
that I didn't see there so it wasn't
as deep as I thought it would be.
I instantly knew something was wrong
once I hit my head
and I couldn't get
up from the water.
What happened to Ian during that
accident was that he broke his neck.
And in that one moment,
he went from being a young man with
his entire life ahead of him
to a young man fighting for his life
in a hospital bed.
Almost impossible to imagine,
something so devastating.
After I had the surgery
to stabilize my spine,
I got the diagnosis from the doctor
that I was a quadriplegic.
I would have 99% chance
of never walking again.
Most likely not regaining
any use of my arms.
I would need to have
almost 24-7 care
just to go about my daily life.
With a fracture to the spine and
a severe spinal cord injury,
there is a complete loss of
communication between the brain
and the rest of the body.
And beyond
any other kind of injury,
this has always been thought
to be completely unfixable.
But Ian's case is challenging this,
thanks to a new idea that's come
out of the blue
and from someone who
isn't even a doctor.
Nick Annetta is an
electrical engineer.
He and his colleagues have developed
a new technology they hope might be
able to reconnect the brain and
the body after a spinal injury.
It is called a neural bypass.
So the neural bypass technology
can be thought of as
a detour around a traffic accident.
So the traffic can't flow any more
because it hits the accident
in the spinal cord,
so we create this detour from the
brain around the accident
then down to the muscles so that
traffic can flow again.
But this was just a concept
developed by engineers in a lab.
To find out if it would work
in a person,
Nick joined forces with neurosurgeon
Professor Ali Rezai
at the Ohio State University.
Together, they worked out it was
possible in theory,
but in practice they would need to
find a patient willing to undergo
radical brain surgery.
And I was all for it.
It was something that I was really
excited about,
but then came the million-dollar
question.
OK, well, can we crack your head
open and have brain surgery
that you don't really need?
But you can potentially regain use
of your arm
and help really push the
research further?
I decided to go
ahead and have the surgery.
It was a really special moment in
Ian's life when he was given an
opportunity by this very unusual
team of electrical engineers and
neurosurgeon, neuroscientists
to be their guinea pig.
What the team had planned
was truly radical.
They wanted to read the electrical
signals from Ian's brain
and use them to give him back the
ability to move.
In April 2014,
they opened up Ian's skull
and inserted a tiny chip into the
area of his brain
responsible for
hand movements.
It was an incredibly risky
procedure.
This is a major surgery that he had.
It might be kind of routine
for the neurosurgeons.
As an engineer, looking at someone's
skull opened up,
I was concerned for him, so once we
knew that he was doing all right,
then it became this waiting game of
when do we get
to connect up with Ian?
It took about a month for Ian to
recover from the surgery.
Only then could the engineers plug
into the device in Ian's brain
and start trying to read the
signals.
We started seeing signals like this.
Now, we had to learn the way Ian's
brain was talking
about each different motion,
so we asked Ian to think about a
particular motion like closing
his hand and then we would look at
the firing pattern
of the neurons for that motion.
And the machine learning algorithm
that we run would pick out
these subtly different patterns and
be able to recognize
these different motions.
Ian started visiting the university
three times a week for training
sessions. He watched hand movements
on a computer screen and tried to
imagine performing them
in painstaking detail,
while the computer attempted
to decipher his thoughts.
So after months and months of him
going through this training,
they then came to the day where they
wanted to try everything out
and see if it worked.
So a really amazing thing to see,
Ian on that day with the stimulator
wrapped around his arm,
each bit attached to different
muscles in his arm.
He was asked to try
and close his hand.
Good.
When we were able to first see that
motion of me just
opening and closing my hand,
based on my thought control,
it was extremely exciting.
That was something that I thought
I would never be able to do
since my accident.
It was a huge relief for us.
It meant that this was really going
to work and we really had something
here, but also very exciting
just to see Ian himself do this.
I couldn't think of somebody else
that I would want to see
do this more.
Ian has progressed with this
technology
from a C5 level where he has
some proximal movements
of his shoulder to a C7, C8,
where he has individual movements
of his fingers.
Which is remarkable and that has
never been shown before.
Doctors are always so cautious in
what they want to claim for progress,
but you can see the palpable
excitement.
The hope would be that if you can
improve the function of somebody
who was expected to have none,
how much more could
you do for other people?
How far could this be pushed?
At the moment, this system can
only be used in the lab,
but the goal is to make it wireless
so that Ian can use it at home,
providing a permanent link
between his brain and his body.
The biggest reason I want to regain
use of my hands,
using the bypass system,
is so I can live on my own.
Maintaining my independence lets me
feel like myself again.
And being able to drive my car or
being able to do certain things for
myself and I don't have to rely
on other people,
it really makes me feel good about
myself and know there's really not
anything holding me back,
or any big limitation on my life.
The human body plan is unique
within nature
and unique to each one of us
and the most extraordinary people on
the planet are those
who are helping
to unlock its mysteries.
Next time, I'll reveal how the human
body can adapt
to the most extreme environments.
Feels good.
And survive against incredible odds.
Having an entire hemisphere of your
brain removed
is a pretty radical thing.
It's a world full
of extraordinary people.