Episode 4 Incredible Medicine: Dr Weston's Casebook


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Episode 4

Gabriel Weston uncovers extraordinary cases that are revealing new discoveries about the human body, including a girl with two hearts and a man who can sing two notes at once.


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We're discovering astonishing things about the human body

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all the time, through people who are different from most.

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I'm Gabriel Weston.

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As a surgeon, I've spent years studying the human body

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and the secrets of how it works are often revealed

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by the most rare and surprising of cases.

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So, I've searched the world to find these extraordinary people

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and bring you their stories.

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This is my heart.

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I'm the only one that has this.

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I'm Jordy Cernik and I can't feel fear.

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My name is Harnaam Kaur and I'm a fabulous bearded lady.

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With the help of the doctors that treat them,

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and some of the world's leading scientists,

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I'll be uncovering exactly what makes their bodies unique.

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I'm going to show you the hidden processes

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that make them exceptional.

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Just look at that!

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I'll discover how they're leading us to the cures of the future.

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When we make a breakthrough like this, it is very exciting.

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And I'll use the latest technology

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to uncover the secrets of their bodies

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and reveal how all of these cases are giving us a new understanding

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of the most amazing natural machine on the planet - the human body.

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'The human body is a wonder of the natural world -

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'a beautifully crafted piece of precision engineering

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'with thousands of intricate parts working in perfect harmony.'

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It's only when we test a machine to its limits

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that we know what it's capable of.

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In this programme, we're going to delve into the secret inner workings

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of the human body through some truly extraordinary cases.

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We'll discover why this woman had two hearts,

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why this woman's body can bend in ways no-one else's can

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and how this man can produce sounds that seem impossible.

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Through these cases,

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I'm going to reveal a hidden world of astonishing mechanics,

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materials and intricate working parts,

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unsurpassed by anything we humans have invented.

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And our first few cases are people with some surprising variations

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to the fundamental human model,

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who can perform feats that seem almost superhuman.

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MUSIC: Born To Run by Bruce Springsteen

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One time, I signed up for a 200 mile, 12-person relay race,

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just to do it solo.

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I actually ran 50 marathons in all 50 of the United States

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in 50 consecutive days.

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My name is Dean Karnazes

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and I've run through three days and three nights without stopping.

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# Baby, we were born to run. #

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The night of my 30th birthday, and I'm in a bar

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and I'm doing what we do, here in America, on our 30th birthdays.

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I was drinking with my buddies.

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I had a really comfortable, cush job in San Francisco

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as a young corporate executive.

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I had all the perks you would imagine - a company car,

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stock options, health insurance - but I was miserable.

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And I just had this epiphany - leave the bar.

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And at 11 o'clock at night, drunk,

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and ran 30 miles, straight through the night that night.

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I remember, when I ran, that was the only time I really felt alive

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and when I felt most alive is when I was struggling

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and in great pain and trying to persist.

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And something almost primordial bubbled up that night.

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That was 24 years ago

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and you could say that Dean hasn't stopped running since.

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He's completed some of the toughest endurance events on the planet,

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from the South Pole to the Silk Road.

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He's the ultimate ultra-marathon man.

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So, some of the races I've run have been 50 miles,

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100 miles, 200 miles.

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Dean decided to test how far he could run without stopping.

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And after actually making it 350 miles

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in over 81 hours of continuous running,

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I think I found my limit.

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Cos that third night without sleep was really vexing.

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I got through the first two nights with no sleep OK,

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but that third night, I was hallucinating,

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I was falling asleep as I was running

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and I thought, "This is kind of the functional limit

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"that a human can go, at least myself."

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So, if it weren't for the minor inconvenience of having to sleep,

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Dean could just keep running, apparently without needing to stop.

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Here is a man who seems to completely redefine what it means

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to push your body to the limits, but how is this humanly possible?

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My name is Anthony Luke

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and I'm the Director of Primary Care Sports Medicine,

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here at the University of California in San Francisco.

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For Dean, I think he's the epitome of the ultra-marathon athlete.

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I don't think I've heard of anyone

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put as many miles on his body as he has.

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To try to get to the bottom of Dean's extraordinary abilities,

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Dr Luke and his colleague, exercise physiologist Dr Nicole Pinto,

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have invited him to their lab.

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Put your heart rate monitor on.

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The team are looking at two indicators of Dean's fitness.

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The first is how efficiently his body uses oxygen.

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Dean's doing really well so far.

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We have him at some lower stages and as we ramp him up,

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he'll probably get more tired.

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Are you ready for the next stage, Dean? Move him up to 7.7.

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As well as analysing his oxygen use, they're also testing the levels

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of a chemical in his blood called lactate.

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Are you doing OK?

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When we're exercising, there are all these processes occurring

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where we're metabolising or breaking down nutrients

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and those processes have by-products.

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Lactate is a by-product of exercise.

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It's a substance which is built up in the muscles

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and when it reaches a certain point,

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it has to be cleared from the muscles into the blood.

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I sort of think of lactate as being the thing

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that causes that burn when you do exercise.

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Are you ready for the next stage, Dean? Give me a thumbs-up. Good.

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And we're going up.

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Anthony and Nicole take regular blood tests

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to measure Dean's lactate levels.

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-17, very hard.

-OK.

-Going up.

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-Let me know when, Nicole.

-And go ahead.

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Are you OK, Dean?

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The team are also taking a detailed look at the way that Dean runs.

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Place markers here on your lower back and upper back.

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We're testing Dean's biomechanics by using a 3-D marker system.

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As they analyse the results,

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the team hope to find the secret of Dean's extraordinary ability.

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-These are the results?

-Yeah, how are you feeling now?

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-Rested a little bit?

-I've recovered now, yeah.

-OK.

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So, first we're going to look at heart rate

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-and we're going to do that in comparison to speed.

-Mm-hmm.

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So, if you look here at the blue line, that's your heart rate

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and we see a nice smooth increase, which is expected

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for an ultra-endurance athlete.

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Dean is at peak fitness.

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But this alone doesn't explain

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why he can run such superhuman distances.

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So, now the team analyse his technique.

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This is just a visual 3-D reconstruction

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of your skeleton actually running.

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You do kind of flex at the knee

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-a little bit more than someone else.

-I see that, yeah.

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That'll have some advantages when you're kind of absorbing shock,

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as well as your efficiency to kind of push yourself back.

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Dean's efficient technique will help keep him going

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but it can't explain why his muscles don't eventually tire.

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The scientists hope they might find a clue

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in the final results from the lactate test.

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Most of us hit a point where our muscles start to burn.

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This is known as our lactate threshold,

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when lactate is being produced faster than we can get rid of it.

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But the results suggest Dean is different.

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You're starting at a nice low level.

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You start exercising and, actually, your blood lactate level dips

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and that's probably because your heart rate's kind of going,

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it's moving blood and your body's very efficient at clearing that.

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You're holding a nice low blood lactate level at your sweet spot.

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-Yeah.

-Where you like running,

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where you run all those hundreds of miles, you're very economical.

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So, this is the secret of Dean's amazing abilities.

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His blood is able to quickly clear lactate from his muscles

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which, in most of us, would make it too painful to carry on.

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People always ask me, "How long are you going to keep this up?"

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I always tell people, "My finish line is a pine box."

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By around 50, we see people slowing down a little bit,

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people may be getting a little more aches and pains or even problems.

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Certainly, for Dean, he's continued to do these things

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for the last ten years, at least that I've known him.

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I don't see any signs of slowing down.

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I still love to run as much as I did

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and if I wake up one morning and that passion and that fire's gone,

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I'll stop running, but right now, it's still white hot.

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So, I just love exploring the limits

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and I think I'm going to keep doing it as long as I can.

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What enables Dean to power through these incredible feats of endurance

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are these - his skeletal muscles.

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And, in fact, it takes about 200 of these muscles

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just to take one single step.

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All over our bodies, even where you wouldn't expect them,

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there are muscles at work,

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keeping every part of our machinery moving and functioning.

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Now, I trained as an ear, nose and throat doctor

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and I spent a lot of my time focussed on a group of muscles

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that most people have probably never heard of.

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These are the muscles of the larynx or voice box.

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Together with our tongue,

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these muscles work collectively to do something almost magical.

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They produce the very precise set of vibrations in the air

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that give each of us our unique voice.

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But the next extraordinary person we're about to meet

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can use this machinery to make sounds that should be impossible.

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HE SINGS TWO NOTES SIMULTANEOUSLY

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This man is a professional singer. But he has no ordinary voice.

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HE SINGS ODE TO JOY WITH TWO SIMULTANEOUS RUNS OF NOTES

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My name is Wolfgang Saus and I can sing two notes at the same time.

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This mysterious style of singing

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is known as polyphonic or overtone singing.

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Most of us can make only one note at a time,

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so how is it possible to produce two?

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Over 30 years ago, Wolfgang set out to answer that very question.

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Back then, he was a successful research chemist,

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for whom singing was a hobby.

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One day, he opened his mouth

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and what came out astonished him.

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HE SINGS TWO SIMULTANEOUS RUNS OF NOTES

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I was amazed about the sound

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and to hear a full orchestra in your own voice is absolutely amazing.

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But he had absolutely no idea

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how he was producing these extraordinary sounds.

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So, I went home and tried many things.

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HE MAKES TRILLING SOUND

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I first to the mirror and looked into my throat,

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but this was a stupid idea. I didn't know how my voice worked.

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I tried something with my tongue and suddenly there was an overtone

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and then it was lost again and then I couldn't find it.

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HE TRILLS

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'Wolfgang gave up his research job

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'and decided to turn his unusual singing talent into a new career,

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'and to perfect his technique,'

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he wanted to uncover the secret

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of exactly how he was making these astonishing sounds.

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'I think I'm a scientist'

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and I want to know how things work.

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And there was one man who could help him unlock that mystery.

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Professor Bernhard Richter is the head

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of the Freiburg Institute for Musicians' Medicine.

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He's a trained opera singer and a doctor.

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Open your mouth, please.

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Science is art and art is science, for me,

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so I try to help singers understand

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what's going on inside their bodies.

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And Professor Richter has a few state-of-the-art tools to help him.

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WOLFGANG SINGS A SINGLE NOTE

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This software analyses sound

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and helps visualise the notes being produced.

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Please make just a normal sound of a normal singer,

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opera-like singer, you know.

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WOLFGANG SINGS A SINGLE NOTE

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When we sing normally, we produce

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lots of different frequencies at once,

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shown by the different bars here.

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Our brain combines these different frequencies

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and we hear a single note.

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Now, can you please do, for me, the overtone singing?

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WOLFGANG SINGS WITH OVERTONES

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But Wolfgang is able to make us think

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he's singing two notes at the same time.

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He does this by filtering out some overtones and making others louder.

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What you heard was all the time the same fundamental frequency,

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but we heard the changing of the overtones.

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RECORDING OF WOLFGANG SINGING WITH OVERTONES

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To work out how Wolfgang is able to do this,

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Professor Richter put him into an MRI scanner and made him sing.

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First, he's looking at what happens when Wolfgang sings normally.

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Now, the most important thing is the shape of the tongue.

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You can see that the tongue is quite flat here

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and there is a narrowing

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between the back of the tongue and the pharynx wall here.

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When Wolfgang sings normally,

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his tongue creates a single resonance chamber.

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This is the black area on the scan,

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essentially a chamber full of air where sound waves resonate -

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in this case, producing a single sound.

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But when he switches to overtone singing,

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Wolfgang does something completely different.

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RECORDING OF WOLFGANG SINGING WITH OVERTONES

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You can see clearly how the tip of his tongue is going upwards

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and creating this chamber underneath the tongue.

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The black column there is the air and the more grey are the muscle.

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And you can see, for the different overtones,

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he has a different tongue shape here.

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Very impressive how much he can move, actually, his tongue.

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So, his tongue is creating two different resonance chambers

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and that has a profound effect on what we hear.

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There's a completely different vocal sound

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and this is what you perceive. You perceive two tones.

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Actually, I'm still singing the same as before,

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but the brain makes two tones out of it.

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HE SINGS WITH OVERTONES

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This is the secret to singing two notes at the same time.

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Wolfgang alters the shape of his mouth

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to amplify particular frequencies.

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In theory, it's something that anyone could do,

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but it takes years of dedicated practice.

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It's fantastic to see, after many years of singing

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and investigating and trying to find out

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what happens in overtone singing,

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to, in the end, see what the tongue does and it's...

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-It's not imagination. It's more reality, you know.

-Yeah.

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Wolfgang's rare skill reveals how we can consciously manipulate

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our muscles to achieve extraordinary things.

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Our bodies are full of moving parts that are working all the time.

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And it's often when something goes wrong

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that we see what they're really capable of,

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as we'll discover in our next few cases.

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Take the heart, for example.

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In a single day and 100,000 beats,

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this heart can pump 2,000 gallons of oxygen-rich blood

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around 60,000 miles of vessels.

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'And in one of the most astonishing cases I've come across,

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'a life-threatening problem with one girl's heart

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'has changed our understanding of this most vital organ.'

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The fact that this young woman is alive

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is one of the most dramatic successes

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in recent medical history.

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My name is Hannah Clark and I used to have two hearts.

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Soon after Hannah was born, her parents, Liz and Paul,

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began to worry that something might be wrong.

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It was definitely the screaming. It was piercing.

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There was never a time that she was a well baby.

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A chest X-ray when she was eight months old

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revealed Hannah had an enlarged heart,

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a condition called dilated cardiomyopathy.

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BABY CRIES

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As a result, her heart struggled to pump blood around her body.

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Every time you would think it was not so bad,

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and then something else would happen,

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and then it would get worse and worse.

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Liz and Paul were told Hannah would need a heart transplant.

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Consultant cardiologist Dr Dirk Wilson first met Hannah

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when she was only eight months old.

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She weighed less than 10kg and the likelihood of finding a donor heart

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for an infant of that size is actually quite small.

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Without a heart exactly the right size for Hannah,

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the doctors decided to try

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a different and unusual kind of transplant.

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It's called a heterotopic or piggyback transplant.

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Instead of removing Hannah's heart, the doctors would leave it in place

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and implant a second one from a donor.

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The idea was that both hearts would then work together

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to pump blood around her body.

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Hannah was just two years old when she had her piggyback transplant.

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They told us if she didn't have the transplant when she did,

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she wouldn't have made it. She was that ill.

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But the operation was a success.

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Her two hearts beating together worked better

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than anyone could have imagined.

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But when Hannah was six, she found herself back in hospital.

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She went ill one day and these glands started to pop up,

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-didn't they?

-Her kidneys started failing. She was really ill.

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As with any transplant,

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there was a risk that Hannah's body would reject her new heart,

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that her immune system would see it as something foreign

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and her body would attack it.

0:21:580:22:00

So, for this reason, ever since her transplant,

0:22:000:22:02

she'd been taking drugs to suppress her immune system.

0:22:020:22:06

But these had left her vulnerable to illness

0:22:060:22:09

and she'd developed life-threatening complications.

0:22:090:22:13

They called us in the room and they said, um...

0:22:150:22:18

.."We think she's only got 12 hours to live."

0:22:200:22:22

Hannah received lifesaving treatment

0:22:270:22:29

and her doctors reduced her dose of anti-immunity drugs.

0:22:290:22:33

Her immune system began to recover

0:22:350:22:38

but that had a devastating side effect.

0:22:380:22:41

By reducing the anti-immunity drugs,

0:22:430:22:45

it meant that the heart was being rejected

0:22:450:22:49

and its function had gone down - the donor heart.

0:22:490:22:52

Slowly, over time, the donor heart that had kept Hannah alive

0:22:530:22:57

was being attacked by her own body...

0:22:570:23:00

..a situation that could be fatal.

0:23:010:23:04

But then, doctors noticed something remarkable.

0:23:060:23:10

Hannah's own heart now appeared to be recovering...

0:23:100:23:14

..something they'd never seen a damaged heart do before.

0:23:150:23:19

And it gave them a radical idea.

0:23:200:23:23

We started to wonder, perhaps if they took out the donor heart,

0:23:240:23:28

wouldn't that be the way forward?

0:23:280:23:29

Would it be the right thing to remove the donor heart

0:23:290:23:32

and would that actually improve Hannah's situation?

0:23:320:23:35

The doctors decided to go ahead with this groundbreaking operation.

0:23:350:23:41

In February, 2006, they removed the donor heart,

0:23:410:23:45

leaving Hannah's own heart to function without any assistance.

0:23:450:23:50

It was a world first and nobody could predict the outcome.

0:23:500:23:55

-TV NEWS REPORT:

-A hug from her mum,

0:24:000:24:02

as Hannah Clark is overcome by emotion at a press conference.

0:24:020:24:05

The heart is not showing any signs of deterioration.

0:24:050:24:10

As a matter of fact, it's getting better and better.

0:24:100:24:13

After just five days in hospital, Hannah returned home.

0:24:140:24:18

I didn't expect how she came out of it so quick.

0:24:180:24:22

It was just lovely to see,

0:24:220:24:24

cos we didn't think that was going to happen.

0:24:240:24:26

Hannah has been on a remarkable medical journey,

0:24:290:24:32

one that's changed the way

0:24:320:24:34

doctors approach life-threatening heart problems.

0:24:340:24:37

If there's a chance a diseased heart might recover if rested,

0:24:400:24:43

as happened with Hannah, doctors are now less likely

0:24:430:24:47

to perform a transplant as a first option.

0:24:470:24:50

Instead, they may try a robotic device

0:24:500:24:53

to assist the heart and give it a chance to recover.

0:24:530:24:56

Hannah's case has shown us that even in situations where we think

0:24:580:25:02

there is no hope of recovery, recovery can occur.

0:25:020:25:05

Hannah is now 23 and has a baby of her own.

0:25:080:25:12

I always think about the doctors and the surgeons

0:25:120:25:14

who done my operations and stuff, really.

0:25:140:25:18

I wouldn't really be here without them.

0:25:180:25:20

They practically brought me back to life not just once - twice, really.

0:25:200:25:24

I'm really proud and really glad I had the doctors I had.

0:25:240:25:27

'As a surgeon, I can't help but be excited by cases like Hannah's,

0:25:310:25:35

'where a life-threatening medical problem is solved

0:25:350:25:38

'by pioneering surgery.

0:25:380:25:41

'But sometimes, things go wrong in our bodies that don't need fixing.

0:25:410:25:46

'Occasionally a fault can even give us an edge.'

0:25:460:25:50

In our next case,

0:25:500:25:52

a flaw in the finely-tuned machinery of her body,

0:25:520:25:56

has given one woman the ability to move in ways

0:25:560:25:59

that, for the rest of us, are completely impossible.

0:25:590:26:03

My name is Claudia Hughes and I can bend in ways that no-one else can.

0:26:100:26:14

Like lots of children, Claudia loved dance and gymnastics,

0:26:150:26:19

but people around her noticed that she was no ordinary dancer.

0:26:190:26:24

Claudia was different.

0:26:240:26:26

I remember getting a ballet book from my mum

0:26:270:26:30

and there was, like, a picture of a girl doing splits in there

0:26:300:26:33

and I was, like, "That's so cool. I'm going to try that."

0:26:330:26:36

I could just do the splits straightaway.

0:26:360:26:38

Claudia found that she was naturally bendier than most people.

0:26:390:26:43

We used to have to do stretches at the beginning of a dance class

0:26:440:26:47

and we had to do this one exercise

0:26:470:26:49

where we were just kicking our leg up behind us.

0:26:490:26:52

And my leg just went all the way round

0:26:520:26:54

and gave me this massive black eye.

0:26:540:26:56

Claudia now performs professionally.

0:26:590:27:02

I'm a full-time contortionist. This is my career.

0:27:020:27:06

I'm the only British contortionist

0:27:060:27:08

to be able to do the spinning Marinelli bend.

0:27:080:27:11

Recently, I've been proclaimed Britain's bendiest woman,

0:27:110:27:15

which is quite an achievement.

0:27:150:27:17

When you see Claudia in action, it's completely mind-boggling

0:27:200:27:25

and the obvious question is, how on Earth can she do it?

0:27:250:27:29

What is it about her body that enables her to bend in ways

0:27:290:27:34

that would be impossible for most of us?

0:27:340:27:36

Dr Emma Redding is Head of Dance Science

0:27:380:27:41

at the Trinity Laban Conservatoire of Music and Dance.

0:27:410:27:46

I'm really interested in hypermobility.

0:27:460:27:48

That's different to flexibility.

0:27:480:27:51

Flexibility refers to the range of motion at a joint,

0:27:510:27:55

and dancers, for example, and gymnasts have good flexibility.

0:27:550:27:59

But hypermobility is something different.

0:28:000:28:02

That's when a joint goes beyond its sort of extension, its normal range.

0:28:020:28:07

Dr Redding has invited Claudia to her lab

0:28:090:28:13

to try to get to the bottom of her extraordinary abilities.

0:28:130:28:16

She uses a device called a goniometer

0:28:160:28:20

to discover just how hypermobile Claudia really is.

0:28:200:28:24

-Is that good?

-Yeah.

-OK, great.

0:28:240:28:26

Interestingly, the elbows -

0:28:260:28:28

-you could extend those 17 degrees beyond normal.

-Mm.

0:28:280:28:31

And your knees, 17, 18 degrees beyond a normal person's.

0:28:310:28:35

Claudia's range of movement goes far beyond the normal limits.

0:28:370:28:42

It's greater than in anyone Emma has seen before,

0:28:420:28:44

including highly trained and flexible dancers.

0:28:440:28:48

And Dr Redding knows the likely cause.

0:28:500:28:53

Essentially, if you've been born with hypermobility,

0:28:550:28:57

then it probably means that the connective tissues

0:28:570:28:59

that surround those joints are lax.

0:28:590:29:02

They're looser than normal joints.

0:29:020:29:05

Claudia is far bendier than most of us

0:29:070:29:09

because there's something wrong with her ligaments

0:29:090:29:12

which hold her joints together.

0:29:120:29:14

They're made from a material called collagen.

0:29:140:29:17

But in Claudia, it's weaker than it should be.

0:29:170:29:21

This is what gives her superhuman abilities, but they come at a price.

0:29:210:29:27

Individuals with hypermobile joints have to work harder

0:29:270:29:31

-to stabilise those joints.

-Yeah.

0:29:310:29:33

There's more muscle tension created during the day

0:29:330:29:36

-to sort of maintain that stability.

-I do get tired really easily.

0:29:360:29:41

In a sense, you've been expending more energy during the day

0:29:410:29:44

than a normal person.

0:29:440:29:46

And being so bendy also carries a risk.

0:29:460:29:50

Hypermobile joints can twist very easily

0:29:500:29:54

and often can suffer from injury.

0:29:540:29:57

With weak ligaments, Claudia is at risk of hurting herself

0:29:590:30:03

but, remarkably, she rarely gets injured.

0:30:030:30:06

To find out why this might be, Dr Redding carries out another test.

0:30:080:30:12

-I'm just going to take a quick measurement.

-OK.

0:30:130:30:16

Keep your arm there for me.

0:30:160:30:17

And then you try and match the angle with the other arm.

0:30:180:30:22

She's measuring Claudia's awareness

0:30:220:30:25

of the position of her body in space,

0:30:250:30:28

an ability called proprioception.

0:30:280:30:31

So, when we positioned your arm in a particular place,

0:30:310:30:34

we asked you to close your eyes

0:30:340:30:36

and replicate that joint on the other side.

0:30:360:30:38

-Yeah, I found that quite easy.

-And you replicated that angle very well.

0:30:380:30:42

So, it does seem that you have good proprioception in your upper body.

0:30:420:30:46

Your brain is registering that it's OK for your body

0:30:460:30:49

to be going to those extreme ranges of motion

0:30:490:30:52

cos it can sense where they are.

0:30:520:30:54

Right, OK.

0:30:540:30:56

Claudia's awareness of her body helps her to stay in control

0:30:590:31:03

of her bendy joints and so push her body to its absolute limits.

0:31:030:31:08

I love trying new contortion stuff around the house,

0:31:080:31:12

partly because I'm training

0:31:120:31:15

and doing household work at the same time.

0:31:150:31:17

Sometimes, if I have friends over, it's always a bit of a party trick

0:31:170:31:21

to, like, come out of a cupboard or something and scare them.

0:31:210:31:25

I'm just having a great time at the moment.

0:31:260:31:28

I just want to do it for as long as my body can

0:31:280:31:31

and then I'll see what happens.

0:31:310:31:33

Claudia's extraordinary ability to bend her body

0:31:380:31:42

is only physically possible because of an abnormality

0:31:420:31:46

in one of the most prevalent and important materials

0:31:460:31:49

in the human body - collagen.

0:31:490:31:52

And I can show you some of its special properties with this egg.

0:31:530:31:57

But first of all, I need to get rid of its hard shell,

0:31:570:32:00

so I'm just going to put this into a bowl of vinegar, which is an acid.

0:32:000:32:04

If I leave it there for long enough, what I'll end up with is this -

0:32:040:32:09

this amazing thin membrane, which is made of collagen

0:32:090:32:14

and which actually gives the egg its perfect shape,

0:32:140:32:18

since it's the shell that just grows on top of this.

0:32:180:32:21

But the collagen isn't just making the egg look smooth and beautiful,

0:32:210:32:26

it can also do something else which is really cool.

0:32:260:32:29

It's the combination of strength and flexibility in the collagen

0:32:300:32:34

that allows the egg to bounce up and down like that.

0:32:340:32:37

What I'm going to do now is dissect this collagen membrane

0:32:390:32:43

and empty it out, and the contents are spilling out into this bowl.

0:32:430:32:47

And what this leaves me with is this amazing collagen-rich membrane

0:32:480:32:54

round the outside, which is kind of very, very strong,

0:32:540:32:58

but also stretchy and tough.

0:32:580:33:01

It's these properties that make it perfect for stabilising our joints

0:33:020:33:07

and controlling their range of movement.

0:33:070:33:09

But they also play a key role in another part of our body - our skin.

0:33:090:33:15

And there's one fascinating case I've come across

0:33:170:33:19

that's shown me just how important this is.

0:33:190:33:22

It's one of the most moving I've seen.

0:33:220:33:25

For most people, lunch at a cafe with friends is a simple pleasure.

0:33:300:33:34

For Paul, it requires an almost superhuman effort

0:33:360:33:41

because of a condition he's had since birth that affects his skin.

0:33:410:33:47

My name is Paul Martinez and I'm from Stockton, California.

0:33:480:33:52

I have a condition called epidermolysis bullosa.

0:33:540:33:57

They call it EB for short.

0:33:570:33:59

My skin is very fragile, like paper.

0:34:000:34:03

Epidermolysis bullosa, or EB, is a genetic condition

0:34:060:34:11

that makes the skin incredibly delicate.

0:34:110:34:13

Our skin is made up of layers that, in most people,

0:34:130:34:17

are anchored together.

0:34:170:34:19

But in Paul, the layers are only loosely connected,

0:34:190:34:23

so they rub against each other.

0:34:230:34:24

Any small bump can lead to a blister.

0:34:260:34:30

The blister then turns into a second or third-degree burn.

0:34:300:34:34

My skin is always hurting, like it's on fire.

0:34:340:34:38

The hands and feet are particularly vulnerable to damage

0:34:410:34:44

because they're constantly subjected to pressure and friction.

0:34:440:34:48

In Paul's case, his fingers are now encased in scar tissue.

0:34:480:34:53

People with EB are also more likely

0:34:530:34:56

to develop skin cancer as young adults.

0:34:560:35:00

It's a condition for which there's, as yet, no cure.

0:35:000:35:04

Doctors can prescribe drugs to help deal with the constant pain,

0:35:040:35:08

but Paul chooses not to take them.

0:35:080:35:11

I just feel that I value my mind a lot.

0:35:130:35:16

I wasn't blessed in many aspects, but I feel I was blessed in my mind.

0:35:160:35:20

So, I don't want to take that away.

0:35:200:35:23

Paul has refused to let EB hold him back.

0:35:250:35:28

He gained his high school diploma

0:35:280:35:31

and attended the prom just like all the other kids,

0:35:310:35:34

and then later graduated from college

0:35:340:35:36

with a degree in business.

0:35:360:35:39

'Any injury or disease can be risky or painful,

0:35:410:35:45

'but when the problem involves your skin,'

0:35:450:35:48

the material that covers your whole body,

0:35:480:35:50

there isn't a single part of you that isn't affected.

0:35:500:35:54

As a doctor, I find it hard to understand

0:35:540:35:57

how you'd even begin to grapple with a condition like Paul's.

0:35:570:36:01

But he's been working with leading scientists

0:36:010:36:04

who have been uncovering exactly what causes EB

0:36:040:36:07

and he's become one of the very first in the world

0:36:070:36:11

to try out a pioneering new treatment.

0:36:110:36:14

At Stanford University, teams of scientists have spent decades

0:36:170:36:22

trying to decipher the riddle of EB.

0:36:220:36:25

Today, the research is led by dermatologist Dr Peter Marinkovich.

0:36:270:36:33

It's a very terrible existence for these patients,

0:36:330:36:36

to live with pain all their lives

0:36:360:36:38

and then face the prospect of having to have

0:36:380:36:41

this very severe, often fatal, carcinoma

0:36:410:36:44

as they approach their early adulthood.

0:36:440:36:47

The plight of EB sufferers like Paul is a driving force

0:36:490:36:53

for researchers here at Stanford.

0:36:530:36:55

The problem lies in the structure of the skin.

0:36:550:36:59

Skin has different layers.

0:37:020:37:04

The top layer is the epidermis. That's the bit that you can touch.

0:37:040:37:09

Underneath that is the dermis, where new skin cells are formed.

0:37:090:37:12

And in between those two layers,

0:37:120:37:14

there's something called the basement membrane.

0:37:140:37:17

The basement membrane's like a molecular glue.

0:37:170:37:19

You could think of it as links on a chain and there's different proteins

0:37:190:37:24

that make up each of the different links.

0:37:240:37:26

And when any of those links is damaged,

0:37:260:37:28

then the skin will fall apart.

0:37:280:37:31

In Paul's form of EB,

0:37:330:37:34

one of these key proteins is damaged - collagen VII.

0:37:340:37:39

It means the basement membrane doesn't hold

0:37:390:37:42

the layers of Paul's skin together as it should.

0:37:420:37:46

This is why the layers rub against each other,

0:37:460:37:49

causing the pain and blistering he experiences.

0:37:490:37:52

The scientists here at Stanford have discovered that the reason

0:37:550:37:58

for the damage to collagen VII is a faulty gene.

0:37:580:38:01

And this has led to a breakthrough.

0:38:040:38:06

For the first time, there's a potential new treatment for EB,

0:38:060:38:10

by taking some skin cells from the patient,

0:38:100:38:13

correcting the genetic fault,

0:38:130:38:15

and then growing them some new, healthy skin.

0:38:150:38:19

The technique is known as gene therapy.

0:38:190:38:22

A clinical trial is now under way, overseen by specialist Dr Jean Tang.

0:38:240:38:29

We've invested 20 years to develop gene therapy.

0:38:310:38:34

So, patients with EB lack collagen VII.

0:38:350:38:38

They have an abnormal collagen VII gene.

0:38:380:38:41

And in this clinical trial, we take a small biopsy of their skin.

0:38:410:38:45

We grow out the skin cells in a laboratory Petri dish

0:38:450:38:49

and then we use a virus to infect those cells

0:38:490:38:52

with the collagen VII gene.

0:38:520:38:54

Viruses are a standard way, used in gene therapy,

0:38:560:38:59

to carry healthy DNA into human cells,

0:38:590:39:03

because they can penetrate the cell without damaging its structure.

0:39:030:39:07

In this instance, the virus carries a working version of the gene

0:39:070:39:11

for collagen VII into the patient's skin cells in the lab.

0:39:110:39:16

From that, they're producing small skin grafts

0:39:170:39:20

which now have this essential missing protein

0:39:200:39:23

in the basement membrane,

0:39:230:39:24

which is anchoring the epidermis and the dermis together.

0:39:240:39:27

It takes about 30 days to grow up enough cells

0:39:290:39:32

to make about six grafts

0:39:320:39:34

and then we bring the patient back into the operating room,

0:39:340:39:38

give them general anaesthesia

0:39:380:39:41

and now are able to transfer these genetically corrected skin cells

0:39:410:39:45

onto their chronic wounds.

0:39:450:39:46

Over the past three years, the team have treated four patients

0:39:480:39:52

with this groundbreaking therapy, including Paul.

0:39:520:39:55

The patients had chronic wounds that were unhealed for years,

0:39:570:40:00

and now, after the gene-corrected grafts,

0:40:000:40:03

these wounds are closed, they're healed up and the patients,

0:40:030:40:07

in many instances, can now walk on their wounds.

0:40:070:40:10

After the grafting, Paul showed some amazing results.

0:40:110:40:15

He was walking on these areas

0:40:150:40:17

where he'd never walked without pain before

0:40:170:40:20

and he was able to withstand blistering.

0:40:200:40:22

He did amazingly well after the trial.

0:40:220:40:26

'I like to hang out with my friends.

0:40:280:40:30

'We get together and play card games and stuff like that,

0:40:300:40:33

'so it's really fun just to get out and socialise and laugh'

0:40:330:40:38

and have a good time.

0:40:380:40:40

Paul knows that taking part in the trial isn't going to cure him,

0:40:400:40:44

but he has a longer-term goal.

0:40:440:40:46

'I did it for the future of EB.'

0:40:460:40:50

It is a very excruciating disease

0:40:500:40:52

that I don't want anybody to go through,

0:40:520:40:54

so, if I can do my small part and, you know, help find a cure someday,

0:40:540:40:59

then I have no, er, no doubt in just doing it.

0:40:590:41:04

Paul's story, more than any other case, makes me appreciate

0:41:070:41:12

the extraordinary materials that make up our body.

0:41:120:41:15

'But at a deeper level than anything we've seen so far,

0:41:180:41:22

'what keeps the machinery of our body working day and night

0:41:220:41:26

'are hidden systems that operate on the microscopic scale.

0:41:260:41:30

'And our next case involves one of the most important of these -

0:41:310:41:35

'our immune system.'

0:41:350:41:37

It's our body's own in-built

0:41:390:41:41

emergency response and repair system.

0:41:410:41:43

And perhaps the best way to understand

0:41:450:41:47

just what an extraordinary piece of natural engineering it is

0:41:470:41:51

is to see what happens when the system itself goes wrong.

0:41:510:41:56

Right now, you wouldn't know

0:41:580:42:00

that I was dealing with anything out of the ordinary,

0:42:000:42:04

but other days, I look...like a corpse.

0:42:040:42:10

Life for 22-year-old Brynn can be a little unpredictable.

0:42:110:42:16

It's a question of hoping for the best and preparing for the worst.

0:42:160:42:22

Because every day brings a new battle and a new enemy.

0:42:220:42:27

I'm allergic to everything.

0:42:290:42:31

I am allergic to most fruits and vegetables,

0:42:330:42:38

nuts, strong perfumes, cigarette smoke...

0:42:380:42:43

And the list goes on.

0:42:430:42:45

Soy, corn, egg, milk, garlic... She's even allergic to the sun.

0:42:450:42:50

The allergies change every day - or the triggers, I should say.

0:42:500:42:55

Her reactions are so severe, Brynn avoids eating.

0:42:550:42:58

She relies on a feeding tube for her nutrients.

0:42:580:43:02

This is the feeding bag.

0:43:020:43:04

But even this can't protect Brynn.

0:43:040:43:07

This goes into my intestines.

0:43:070:43:10

She's constantly vulnerable to attack and when it happens,

0:43:100:43:14

she doesn't just suffer the odd sneeze or itchy rash.

0:43:140:43:18

She goes into anaphylactic shock.

0:43:180:43:22

Anaphylaxis is a serious life-threatening allergic reaction.

0:43:220:43:27

You can't breathe,

0:43:270:43:28

you feel like your heart's going to either pound out of your chest

0:43:280:43:32

or stop completely.

0:43:320:43:33

If it progresses far enough, then it can lead to death.

0:43:330:43:37

It's a life lottery Brynn's been forced to play since childhood,

0:43:370:43:41

her mystery reactions steadily worsening as she's grown older.

0:43:410:43:45

I went from always active, always on my bike,

0:43:480:43:54

third-degree black belt taekwondo.

0:43:540:43:56

Then that kind of was taken over by the illness.

0:43:560:44:00

A lot of doctors had a hard time

0:44:000:44:02

explaining the symptoms that I suffered.

0:44:020:44:06

It's very obvious that I had something seriously wrong,

0:44:060:44:12

but no-one could explain what it was.

0:44:120:44:14

Having allergic reactions to pretty much everything,

0:44:140:44:18

and with her doctors baffled, it would have been easy for Brynn

0:44:180:44:22

to just give up and accept that her body was never going to work

0:44:220:44:26

the way it should.

0:44:260:44:27

But she and her family were determined to persevere

0:44:270:44:31

and get to the bottom of this mysterious condition.

0:44:310:44:35

The man who would help them is Dr Lawrence Afrin,

0:44:380:44:41

a specialist in blood disorders.

0:44:410:44:43

Brynn's case is actually severe.

0:44:460:44:48

The symptoms she had when I first saw her went well beyond allergies.

0:44:480:44:54

The essence of this disease, actually,

0:44:540:44:58

is much more chronic inflammation.

0:44:580:45:02

Inflammation isn't a bad thing.

0:45:020:45:05

It's our body's way of fighting infection and helping us heal.

0:45:050:45:09

But too much at the wrong time and wrong place

0:45:090:45:11

can have a serious impact on our bodies.

0:45:110:45:15

Something was making Brynn's body overreact.

0:45:150:45:19

And Dr Afrin suspected the attack wasn't coming from the outside

0:45:190:45:23

but from an enemy within -

0:45:230:45:25

a particular type of white blood cell, known as a mast cell.

0:45:250:45:30

Mast cells stand guard, looking out for insults upon the body, assaults.

0:45:310:45:37

And it can be infections, sometimes it's trauma.

0:45:370:45:41

There's no other defence system in the body that reacts as quickly,

0:45:410:45:46

as instantaneously as the mast cell.

0:45:460:45:49

Mast cells are present in nearly all of our tissue.

0:45:510:45:54

They swing into action to defend our body from infection,

0:45:540:45:58

using an array of chemical defences called mediators.

0:45:580:46:02

The most potent is histamine.

0:46:020:46:05

The dominant effect from histamine is itching.

0:46:070:46:09

When we suffer an insect bite,

0:46:090:46:11

we know that there's a local reaction -

0:46:110:46:14

redness and some swelling and some itching.

0:46:140:46:17

Histamine is closely involved in producing that sensation.

0:46:170:46:21

But, unfortunately, sometimes we get the situation

0:46:210:46:24

where the mast cells start misbehaving

0:46:240:46:26

and they start putting out the wrong mediators,

0:46:260:46:30

sometimes when there's not even any trigger at all.

0:46:300:46:34

Brynn's mast cells were pretty dysfunctional.

0:46:360:46:39

It's a condition known as mast cell activation syndrome.

0:46:390:46:44

Brynn's mast cells were releasing too much histamine

0:46:440:46:47

and causing inflammation when it wasn't needed.

0:46:470:46:51

While Dr Afrin couldn't cure Brynn,

0:46:510:46:54

he could tackle this particular problem.

0:46:540:46:57

He prescribed her antihistamine drugs.

0:46:570:47:00

I'm on a continuous infusion of IV Benadryl into my chest,

0:47:040:47:10

which makes me a little less reactive.

0:47:100:47:13

I would not be alive without antihistamines.

0:47:130:47:16

Brynn's severe condition is rare

0:47:160:47:19

but Dr Afrin was beginning to suspect

0:47:190:47:22

that mast cell mutations may be responsible

0:47:220:47:25

for a number of unexplained illnesses.

0:47:250:47:28

Perhaps as many as 17% of the general First World population

0:47:300:47:36

may have a mast cell activation syndrome.

0:47:360:47:40

He suspects it could be the cause of other conditions

0:47:410:47:44

that involve inflammation,

0:47:440:47:46

like chronic fatigue syndrome and irritable bowel syndrome.

0:47:460:47:50

Just the very notion that there is a disease

0:47:510:47:57

that has the potential to cause

0:47:570:48:00

what we clinically recognise as chronic fatigue syndrome

0:48:000:48:04

or irritable bowel syndrome -

0:48:040:48:05

this is great new potential for helping patients

0:48:050:48:11

and furthering research and our understanding of these diseases.

0:48:110:48:16

Dr Afrin is carrying out research

0:48:160:48:19

to discover whether mast cells are also malfunctioning

0:48:190:48:23

in people with these conditions.

0:48:230:48:25

If so, this could lead to targeted treatments

0:48:250:48:28

that would benefit millions of people.

0:48:280:48:31

It's in the early stages but it's an exciting prospect

0:48:320:48:36

and all through unlocking the secrets of one rare disease.

0:48:360:48:41

Hi, Tasha. How are you?

0:48:430:48:46

-Good, how are you?

-I'm good.

0:48:460:48:49

Through talking about her condition,

0:48:490:48:52

Brynn's made friends around the world.

0:48:520:48:55

I just wanted to thank all of you for helping me spread the word

0:48:550:48:59

about these diseases and illnesses that desperately need awareness.

0:48:590:49:06

Thank you for helping me do that. It means the world to me.

0:49:060:49:10

Brynn's case shows that to comprehend fully

0:49:140:49:17

how the machinery of our body works,

0:49:170:49:19

we need to delve down into its tiniest units.

0:49:190:49:23

And in our last remarkable story,

0:49:240:49:26

we'll see how penetrating the hidden world of the cell

0:49:260:49:30

can lead to the treatments of the future.

0:49:300:49:33

This is Chris and Hugh Hempel, parents to twins Addi and Cassi.

0:49:420:49:47

The girls suffer from a condition that affects how their cells work

0:49:490:49:53

and that might have caused them to die in childhood,

0:49:530:49:56

were it not for the extraordinary story

0:49:560:49:59

of Chris and Hugh's search for a cure.

0:49:590:50:01

The twins were always a little clumsy growing up,

0:50:040:50:07

but we just chalked it up to, you know, being big kids.

0:50:070:50:12

Everything seemed to be completely normal

0:50:130:50:16

until the girls were about 18 months old.

0:50:160:50:19

This couple noticed that their children were not developing

0:50:190:50:23

at the same rate as others were.

0:50:230:50:25

We were around other little kids that were just running faster,

0:50:270:50:30

crawling, climbing on sofas, jumping around,

0:50:300:50:33

and our kids didn't do that.

0:50:330:50:35

At some point, it became evident

0:50:350:50:38

that it wasn't...it wasn't just clumsy kids.

0:50:380:50:42

And that began the roughly 18-month odyssey

0:50:420:50:46

of getting a diagnosis for NPC.

0:50:460:50:49

NPC is short for an inherited genetic disease

0:50:520:50:55

called Niemann-Pick C.

0:50:550:50:57

In its most severe form, it's a fatal condition.

0:50:570:51:01

I like to describe Niemann-Pick type C as a childhood Alzheimer's.

0:51:050:51:11

Essentially, children are born normally

0:51:120:51:14

and then they progressively get worse.

0:51:140:51:17

What's happened to them is that they're collecting cholesterol

0:51:170:51:21

inside their bodies and it won't come out.

0:51:210:51:24

The brain, effectively, begins to drown in cholesterol

0:51:240:51:27

because the cholesterol won't come out of the cells,

0:51:270:51:30

and so severe neuro degeneration is the main by-product.

0:51:300:51:36

Chris and Hugh desperately needed a treatment

0:51:370:51:40

to reverse or at least slow the disease.

0:51:400:51:43

But that treatment didn't exist.

0:51:440:51:46

Well, it's an unimaginable diagnosis,

0:51:480:51:51

to learn that your kids have a fatal disease,

0:51:510:51:54

and then to find out that there are no medications and no treatments.

0:51:540:51:58

Now, I think most parents, given this news,

0:52:000:52:04

would probably just try their best to accept their fate.

0:52:040:52:09

Almost certainly, I think that's what I would do, even as a doctor.

0:52:090:52:12

But this couple are different and they refused to do that.

0:52:120:52:17

Chris and Hugh chose to fight NPC but they were starting from scratch.

0:52:180:52:24

Neither of them were doctors, so they had to understand

0:52:240:52:28

exactly what was happening inside Cassi and Addi's bodies,

0:52:280:52:32

and this meant getting to the bottom of some pretty complex mechanisms

0:52:320:52:37

happening inside their cells.

0:52:370:52:39

Cholesterol is normally processed inside the lysosome,

0:52:430:52:47

a part of the cell that digests substances we need to survive.

0:52:470:52:52

But with NPC, this process goes wrong.

0:52:540:52:58

Cholesterol accumulates inside the lysosome to toxic levels...

0:52:580:53:03

..until the cell eventually dies.

0:53:050:53:07

It's this that makes the disease so devastating.

0:53:100:53:13

Chris was determined to learn all she could about NPC.

0:53:170:53:21

It led her to a tantalising research project

0:53:230:53:27

at the University of Texas Southwestern.

0:53:270:53:30

Research suggests a substance called cyclodextrin could halt

0:53:300:53:35

and reverse Niemann-Pick in mice.

0:53:350:53:37

She shared her findings with the doctor

0:53:370:53:40

who first diagnosed the twins, Caroline Hastings.

0:53:400:53:43

I think it was probably just a matter of weeks later,

0:53:430:53:46

Chris Hempel called me and said,

0:53:460:53:48

"I want to get that drug and give it to my children. Will you help me?"

0:53:480:53:52

Cyclodextrin is essentially a sugar compound

0:53:530:53:56

and it's used in all kinds of products,

0:53:560:53:58

ranging from toothpaste to fat-free butters.

0:53:580:54:03

Millions and millions of people are exposed to cyclodextrin

0:54:030:54:06

every single day.

0:54:060:54:08

Cyclodextrin is a ring of sugar molecules.

0:54:110:54:14

When two of these rings join up, they form a cone shape.

0:54:140:54:17

This cone structure is perfect for grabbing cholesterol

0:54:170:54:21

and carrying it away from the lysosome.

0:54:210:54:23

But it's not a drug - or it wasn't when Chris found out about it -

0:54:300:54:35

a drug that was in a form

0:54:350:54:37

that could be taken to treat any kind of illness.

0:54:370:54:40

Initially, we tried to feed it to the girls, which didn't work.

0:54:420:54:46

And then we realised, "We actually have to make a drug now

0:54:460:54:49

"that has to go into the bloodstream and the brain."

0:54:490:54:52

So, we hired a team of people from around the world.

0:54:520:54:55

Dr Hastings was willing to help us.

0:54:570:54:59

Chris and Hugh both felt strongly

0:55:000:55:03

that, since they knew that their children were going to die,

0:55:030:55:07

they felt that they could not live with themselves

0:55:070:55:09

if they did not take extraordinary risks

0:55:090:55:12

and efforts to keep them alive.

0:55:120:55:15

Aided by Dr Hastings and a team of experts,

0:55:170:55:20

the Hempels fast tracked science.

0:55:200:55:23

In 2010, the Federal Drug Administration granted permission,

0:55:230:55:28

on compassionate grounds, for the Hempels to begin treatment.

0:55:280:55:31

We started out doing what are called intravenous treatments,

0:55:330:55:37

where the drug is just going directly into the bloodstream...

0:55:370:55:41

..only later to find out that it doesn't really cross

0:55:430:55:46

from the bloodstream into the brain very well.

0:55:460:55:49

So, today, the twins get the treatment

0:55:490:55:52

into their spinal column and also into their bloodstream.

0:55:520:55:56

Chris and Hugh were told, in no uncertain terms,

0:55:580:56:01

that their girls would die by the age of seven.

0:56:010:56:04

And yet, here they are, almost 13 years old.

0:56:040:56:07

If the twins weren't receiving the cyclodextrin,

0:56:090:56:12

I think we're both sure that they wouldn't be with us today,

0:56:120:56:15

so we're absolutely positive that it's helped them.

0:56:150:56:19

And Chris and Hugh have noticed some positive changes.

0:56:200:56:23

They were almost deaf, you know, very severe hearing impairments,

0:56:230:56:28

before we started the cyclodextrin.

0:56:280:56:31

So we saw a big bounce in positive hearing.

0:56:310:56:34

We used to walk in the room, the kids didn't even look up.

0:56:360:56:39

And now they look up,

0:56:390:56:41

and so it definitely has had a positive impact.

0:56:410:56:44

It's unclear how much of the damage caused by NPC

0:56:470:56:51

cyclodextrin can reverse,

0:56:510:56:53

but the Hempels are now driven to share their knowledge

0:56:530:56:56

with parents and scientists all over the world.

0:56:560:57:00

We get calls every week from families

0:57:020:57:05

and they're just getting diagnosed, they're in the same spot we were,

0:57:050:57:09

and now there's an option for them

0:57:090:57:11

and it's that little glimmer of hope.

0:57:110:57:13

And that's... A lot of times, that's all you really need.

0:57:130:57:18

The Hempels continue to advance medical science.

0:57:200:57:24

All affected by NPC now have hope.

0:57:240:57:28

What all these cases show is that we're constantly learning

0:57:390:57:43

about the intricate machinery of our anatomy,

0:57:430:57:45

through the stories of courageous people whose bodies are different.

0:57:450:57:49

And what's really exciting for me, as a doctor,

0:57:520:57:56

is that every nuance and flaw we discover

0:57:560:57:58

will drive the progress of medicine into the future.

0:57:580:58:03

Next time, we'll discover

0:58:050:58:07

why this man's bones have inspired experiments in space,

0:58:070:58:11

why this woman has two wombs

0:58:110:58:15

and how this boy's cells were re-engineered to save his life.

0:58:150:58:20

It's a world full of extraordinary humans.

0:58:200:58:24

Gabriel Weston continues to unlock the secrets of the human body through some of the most extraordinary cases in medicine.

This time, we meet a girl with two hearts, a man who can sing two notes at once, a woman who can bend in amazing ways, a girl who is allergic to everything and a man who can run 350 miles without stopping. These remarkable cases reveal the secret inner workings of our bodies - the ultimate piece of natural engineering.