0:00:02 > 0:00:06We're discovering astonishing things about the human body all the time,
0:00:06 > 0:00:09through people who are different from most.
0:00:11 > 0:00:13I'm Gabriel Weston.
0:00:13 > 0:00:17As a surgeon, I've spent years studying the human body.
0:00:17 > 0:00:20And the secrets of how it works are often revealed
0:00:20 > 0:00:24by the most rare and surprising of cases.
0:00:26 > 0:00:29So I've searched the world to find these extraordinary people
0:00:29 > 0:00:32and bring you their stories.
0:00:32 > 0:00:36This is my heart. I'm the only one that has this.
0:00:37 > 0:00:40I'm Jordy Cernik and I can't feel fear.
0:00:40 > 0:00:43My name is Harnaam Kaur and I'm a fabulous bearded lady.
0:00:43 > 0:00:46With the help of the doctors that treat them
0:00:46 > 0:00:49and some of the world's leading scientists,
0:00:49 > 0:00:54I'll be uncovering exactly what makes their bodies unique.
0:00:54 > 0:00:57I'm going to show you the hidden
0:00:57 > 0:01:00processes that make them exceptional.
0:01:02 > 0:01:05Just look at that!
0:01:05 > 0:01:10I'll discover how they're leading us to the cures of the future.
0:01:10 > 0:01:14When we make a breakthrough like this it is very exciting.
0:01:14 > 0:01:17And I'll use the latest technology
0:01:17 > 0:01:20to uncover the secrets of their bodies
0:01:20 > 0:01:26and reveal how all of these cases are giving us a new understanding of
0:01:26 > 0:01:30the most amazing natural machine on the planet -
0:01:30 > 0:01:32the human body.
0:01:43 > 0:01:48Every one of us is built to the same fundamental and familiar blueprint.
0:01:53 > 0:01:56We take for granted the shape and form of our body.
0:01:59 > 0:02:02It's what makes us recognisably human,
0:02:02 > 0:02:05shared across the species and the planet.
0:02:05 > 0:02:08But there are some extraordinary people
0:02:08 > 0:02:11who don't follow that universal plan.
0:02:12 > 0:02:15In this programme, we'll discover
0:02:15 > 0:02:18why this man doesn't have an ounce of fat on his body...
0:02:20 > 0:02:22..why this woman is growing a second skeleton...
0:02:24 > 0:02:27..why this man grew to be the tallest in history...
0:02:28 > 0:02:32..and why this man can survive underwater for nine minutes
0:02:32 > 0:02:34without taking a single breath.
0:02:37 > 0:02:40All of these cases are bringing astonishing new insights into how
0:02:40 > 0:02:45the body's built and how it works, and the first few cases we'll look
0:02:45 > 0:02:49at involve some of the most vital systems that keep us alive.
0:02:49 > 0:02:52HIP-HOP MUSIC PLAYS
0:02:54 > 0:02:57Seven-year-old Virsaviya loves to pull shapes on the dance floor.
0:03:01 > 0:03:04But Virsaviya was born extraordinary.
0:03:10 > 0:03:12This is my heart.
0:03:12 > 0:03:14I'm the only one that has this.
0:03:16 > 0:03:21Virsaviya was born with a condition called Pentalogy of Cantrell that
0:03:21 > 0:03:25only occurs in just five per million,
0:03:25 > 0:03:27and what it means is that Virsaviya
0:03:27 > 0:03:29was born with her heart not inside
0:03:29 > 0:03:32the ribcage where it would be protected,
0:03:32 > 0:03:34but on the outside, just under the skin.
0:03:37 > 0:03:43When I'm getting dressed I put soft clothes on to not hurt my heart and
0:03:43 > 0:03:46I just walk around, I jump, I fly.
0:03:47 > 0:03:51I run. Well, I'm not supposed to run,
0:03:51 > 0:03:52but I love running!
0:03:55 > 0:03:59When Virsaviya was born in Novorossiysk in Russia,
0:03:59 > 0:04:02doctors warned her mother, Dari, to prepare for the worst.
0:04:03 > 0:04:07Doctors told me that Virsaviya have really rare condition,
0:04:07 > 0:04:09but they said she won't survive.
0:04:12 > 0:04:15When I saw first time how her heart was beating,
0:04:15 > 0:04:17of course to me it was something
0:04:17 > 0:04:21special. It meant that Virsaviya is
0:04:21 > 0:04:25alive and she can breathe and she can live.
0:04:25 > 0:04:29Dari moved all the way from Russia to America and her hope in doing
0:04:29 > 0:04:32that was that her daughter would be
0:04:32 > 0:04:34able to have an operation to put things
0:04:34 > 0:04:37back where they should be.
0:04:37 > 0:04:40But unfortunately and very disappointingly for Dari,
0:04:40 > 0:04:42she was told that Virsaviya just
0:04:42 > 0:04:45wasn't strong enough because of problems
0:04:45 > 0:04:46with her blood pressure.
0:04:48 > 0:04:52We came from Russia to United States.
0:04:52 > 0:04:55Doctors check her and they said they cannot help her.
0:04:55 > 0:04:57I was really upset about that,
0:04:57 > 0:05:00because they kept telling me she will die soon.
0:05:01 > 0:05:05It's not easy for Virsaviya to live with heart on the outside because
0:05:05 > 0:05:09it's really fragile and she has to be careful.
0:05:09 > 0:05:13Of course, she can fall and it can be really, really dangerous.
0:05:13 > 0:05:15She can die from that.
0:05:15 > 0:05:17When you first see Virsaviya,
0:05:17 > 0:05:21what you instantly want to know is how is this possible,
0:05:21 > 0:05:25how has her heart formed on the outside of her ribcage?
0:05:25 > 0:05:28Well, until recently,
0:05:28 > 0:05:32it was a complete mystery, and then the first vital clue came from a
0:05:32 > 0:05:36scientist working in a completely different field altogether.
0:05:40 > 0:05:44Dr Bob Edelstein is a molecular biologist.
0:05:44 > 0:05:47He spent years studying a protein called myosin,
0:05:47 > 0:05:51a substance that's crucial to our growth and development from the
0:05:51 > 0:05:53earliest days as an embryo in the womb.
0:05:55 > 0:05:59Myosin is essentially present in every single cell of the body.
0:05:59 > 0:06:02It is able to change the shape of the cell.
0:06:02 > 0:06:05It's able to allow the cells to move.
0:06:05 > 0:06:08In fact, plays a very important role in cell division.
0:06:11 > 0:06:14Myosin has lots of functions within the body,
0:06:14 > 0:06:20but one of them is involved in embryonic development.
0:06:20 > 0:06:24Myosin enables cells to migrate to
0:06:24 > 0:06:28and end up in the positions where they need to be.
0:06:28 > 0:06:31To learn more about what myosin does,
0:06:31 > 0:06:35Edelstein's team did an experiment in mice where they altered a gene to
0:06:35 > 0:06:38stop it being produced in the mouse embryo.
0:06:38 > 0:06:41The results were completely unexpected.
0:06:42 > 0:06:47Without myosin, the mouse's body plan had gone dramatically wrong.
0:06:47 > 0:06:52When we made that mutation we found that the mouse was born with its
0:06:52 > 0:06:55heart outside the body.
0:06:56 > 0:06:58This was quite extraordinary!
0:06:58 > 0:07:01We'd never seen anything like this before.
0:07:01 > 0:07:03But purely by chance,
0:07:03 > 0:07:06there was someone in the room who had seen this before,
0:07:06 > 0:07:09and knew exactly what Dr Edelstein was looking at.
0:07:10 > 0:07:14At the time, there was a paediatric cardiologist
0:07:14 > 0:07:17who was standing right behind me and said,
0:07:17 > 0:07:20"Oh, I know what that is. That's Pentalogy of Cantrell."
0:07:22 > 0:07:24I found it very exciting.
0:07:24 > 0:07:28It raised the opportunity for the first time to actually maybe try to
0:07:28 > 0:07:30do something for people who are ill.
0:07:32 > 0:07:36Although the gene that's involved in the malformation in mice may not be
0:07:36 > 0:07:39the only one involved in human development,
0:07:39 > 0:07:42it has provided Dr Edelstein with an important clue.
0:07:44 > 0:07:48Now the team are studying the human genes that make myosin and other key
0:07:48 > 0:07:50proteins known to be involved in
0:07:50 > 0:07:53laying down the body plan in an embryo.
0:07:55 > 0:08:00This is a network of genes which are making proteins that are interacting
0:08:00 > 0:08:06with each other and that interaction has to occur at the proper time and
0:08:06 > 0:08:10in a proper way in order for the
0:08:10 > 0:08:14heart to be placed properly inside of the body.
0:08:14 > 0:08:17And that secret is what we're trying to uncover.
0:08:19 > 0:08:21Doctor Edelstein is now searching
0:08:21 > 0:08:25exhaustively through the DNA of people
0:08:25 > 0:08:27with Pentalogy of Cantrell to try
0:08:27 > 0:08:31and identify what gene, or what series of genes,
0:08:31 > 0:08:33might be a problem.
0:08:33 > 0:08:37To do that, he needs saliva samples from people like Virsaviya and their
0:08:37 > 0:08:40- relatives.- Oh, my saliva is pink!
0:08:40 > 0:08:42Cool beans!
0:08:44 > 0:08:48It was quite clear to me that Virsaviya was very enthusiastic.
0:08:50 > 0:08:54I also got the impression she was a fighter and that she really wanted
0:08:54 > 0:08:56to see this through and we don't
0:08:56 > 0:08:59know that we'll be able to deliver a
0:08:59 > 0:09:02cure in the immediate future by any means,
0:09:02 > 0:09:06but what we would be able to tell is the likelihood of their next child
0:09:06 > 0:09:09having a similar kind of syndrome.
0:09:11 > 0:09:14As Virsaviya grows older and stronger,
0:09:14 > 0:09:17it may yet be possible to perform surgery on her heart.
0:09:19 > 0:09:22And work like Doctor Edelstein's brings hope that by the time she's
0:09:22 > 0:09:25old enough to have children of her own,
0:09:25 > 0:09:27science will have found new
0:09:27 > 0:09:30therapies to treat or even prevent the condition.
0:09:32 > 0:09:35When I grow up, I want to be an artist. I want to be a pastor.
0:09:35 > 0:09:38I want to be a ballerina.
0:09:38 > 0:09:42I want to make movies.
0:09:42 > 0:09:46I'm not sure if doctors believe in miracles, but I definitely do.
0:09:46 > 0:09:48She's a miracle!
0:09:48 > 0:09:50BBC channel, take 11!
0:09:53 > 0:09:57What's so amazing about this story of the heart on the outside is
0:09:57 > 0:09:59it makes us stop and realise that
0:09:59 > 0:10:02we're not just this shape automatically.
0:10:02 > 0:10:03In fact, there are a series of
0:10:03 > 0:10:06really complex processes that make us this way.
0:10:06 > 0:10:10Now, if you peel back the human skin and have a look underneath,
0:10:10 > 0:10:12what you see is this network of
0:10:12 > 0:10:17bone, muscle, organs, vessels and nerves.
0:10:17 > 0:10:21Central to it all is our heart and with it, our lungs and the muscles
0:10:21 > 0:10:24around them that we use to breathe.
0:10:24 > 0:10:28All of them work together as a finely tuned life-support system,
0:10:28 > 0:10:32designed to keep our brains supplied with oxygen round the clock.
0:10:34 > 0:10:39If that supply fails, most of us would suffer from irreversible brain
0:10:39 > 0:10:43damage within three minutes and die within five.
0:10:43 > 0:10:47But there are some people who can survive for much longer and that's
0:10:47 > 0:10:52because their bodies can do something amazing that scientists
0:10:52 > 0:10:53have only recently discovered.
0:10:58 > 0:11:03This is Veljano Zanki, he's broken world records in free diving...
0:11:04 > 0:11:10..a sport that involves diving to astonishing depths without any oxygen.
0:11:10 > 0:11:14Most of us would be gasping for air after 30 seconds or so,
0:11:14 > 0:11:19but Veljano has held his breath underwater for over nine minutes.
0:11:32 > 0:11:36It's no accident Veljano has come to excel in this sport.
0:11:37 > 0:11:40Here on the Croatian island of Vis where he grew up,
0:11:40 > 0:11:43there's a tradition of diving to catch fish with spears.
0:11:46 > 0:11:47Nobody wears a scuba tank.
0:11:47 > 0:11:51The only oxygen they have onboard is the last breath in their lungs.
0:12:08 > 0:12:12It was this that led Veljano to take up free diving as a sport.
0:12:12 > 0:12:15He's now one of the best in the world.
0:12:26 > 0:12:30These impressive feats are possible partly thanks to a reflex that we
0:12:30 > 0:12:34humans share with marine mammals like whales and dolphins.
0:12:40 > 0:12:43It's called the mammalian diving response.
0:12:44 > 0:12:48As soon as we dive into cold water our heart rate slows,
0:12:48 > 0:12:53blood vessels narrow and blood flow is diverted away from the surface
0:12:53 > 0:12:55inwards to our brain,
0:12:55 > 0:12:59heart and muscles to preserve energy and precious oxygen.
0:13:03 > 0:13:07But there's one thing the mammalian diving response can't explain.
0:13:08 > 0:13:12Our brain needs a constant supply of fresh oxygen to survive.
0:13:18 > 0:13:24So how can divers like Veljano go for so long without oxygen?
0:13:24 > 0:13:27To find out, scientists have been studying what happens in their
0:13:27 > 0:13:30bodies when they hold their breath for a long time and
0:13:30 > 0:13:33they've made an exciting discovery.
0:13:36 > 0:13:39This is Zeljko Dujic, a professor of physiology
0:13:39 > 0:13:41at the University of Split.
0:13:43 > 0:13:48Physiology of the breath hold diving is really taking physiology to extremes.
0:13:48 > 0:13:53We can compare breath hold divers to somebody who is at Mount Everest peak.
0:13:54 > 0:13:58We found out in our laboratory studies very similar values.
0:13:58 > 0:14:00The level of oxygen is very, very low.
0:14:03 > 0:14:06By studying free divers, Professor Dujic has helped uncover
0:14:06 > 0:14:09why they can hold their breath for so long.
0:14:09 > 0:14:14He's observed that when they begin to run out of oxygen, the muscles
0:14:14 > 0:14:15that control breathing,
0:14:15 > 0:14:19the intercostal muscles between the ribs and the diaphragm below,
0:14:19 > 0:14:21go into a rhythmic spasm.
0:14:25 > 0:14:28They are usually initially tiny, small, and then at the end, they're
0:14:28 > 0:14:31becoming more frequent and stronger and stronger.
0:14:33 > 0:14:35That is part of their survival mechanism.
0:14:38 > 0:14:42This is the body's last ditch attempt to push blood to the brain
0:14:42 > 0:14:44and keep it supplied with oxygen.
0:14:44 > 0:14:49It's an automatic response, only seen in extreme circumstances.
0:14:52 > 0:14:55The purpose is to increase the blood flow to the brain,
0:14:55 > 0:14:59to get more blood and more fresh oxygen to the brain cells and
0:14:59 > 0:15:02protect the brain, that no brain damage has occurred at the end of
0:15:02 > 0:15:04the breath hold.
0:15:09 > 0:15:13This crucial reflex finally explains why free drivers can push their
0:15:13 > 0:15:16bodies beyond the normal limits of survival.
0:15:17 > 0:15:21And Professor Dujic believes it could have benefits in medicine.
0:15:22 > 0:15:26He's trying to find a way of simulating this emergency response
0:15:26 > 0:15:29to help prevent brain damage after cardiac arrest.
0:15:33 > 0:15:37They're, for sure, extraordinary people and next few decades we'll
0:15:37 > 0:15:41continue working with them, hopefully we'll help not only breath
0:15:41 > 0:15:47hold divers per se but general population and millions of patients everywhere.
0:15:51 > 0:15:55The story of the free divers makes us realise just how robust and
0:15:55 > 0:15:57resilient we are.
0:15:57 > 0:16:00And if there's one thing that gives us this strength,
0:16:00 > 0:16:01it's this, our bone.
0:16:02 > 0:16:07And this is the next vital part of our body I'm going to look at.
0:16:07 > 0:16:11Our skeleton is what gives us our recognisable human shape.
0:16:11 > 0:16:14The whole architecture of our body.
0:16:14 > 0:16:17We tend to think of it as fixed and unchanging,
0:16:17 > 0:16:20but the reality's quite different.
0:16:20 > 0:16:23We're constantly growing and repairing bone, in fact,
0:16:23 > 0:16:27we form a whole new skeleton every ten years.
0:16:27 > 0:16:32And one of the most fascinating cases I've seen is where this
0:16:32 > 0:16:34delicate balance has been disturbed.
0:16:40 > 0:16:47Two roads diverged in a wood and I took the one less travelled by...
0:16:49 > 0:16:51..and that has made all the difference.
0:16:52 > 0:16:57Lines from her favourite poem reflect the extraordinary life of
0:16:57 > 0:16:58Jeannie Peeper.
0:17:01 > 0:17:04My body has grown an extra skeleton.
0:17:05 > 0:17:10Jeannie has a condition that causes her body to grow new bone on top of
0:17:10 > 0:17:11her skeleton.
0:17:20 > 0:17:23She was a beautiful child, beautiful child.
0:17:25 > 0:17:31She liked to jump rope, she liked to play football.
0:17:31 > 0:17:33Anything that she wanted to do, she did.
0:17:33 > 0:17:36She did not have any hold backs.
0:17:38 > 0:17:43My mom realised I was different from her other children.
0:17:43 > 0:17:47My mouth did not open as wide and it wasn't until I was about
0:17:47 > 0:17:53three-months-old that I started having swellings on the back of my head.
0:17:54 > 0:17:59Worried by this strange collection of symptoms in her bones and joints,
0:17:59 > 0:18:02Jeanie's parents took her to see bone specialists.
0:18:05 > 0:18:11She was about five, five-years-old when they told us that
0:18:11 > 0:18:15she would not live to be a teenager.
0:18:16 > 0:18:20My husband and I talked it over and we didn't know what to do about it.
0:18:24 > 0:18:25Excuse me.
0:18:29 > 0:18:34Jeanie suffers from an incredibly rare disorder that only affects
0:18:34 > 0:18:36one in two million people.
0:18:36 > 0:18:42It's called Fibrodysplasia ossificans progressiva, or FOP.
0:18:42 > 0:18:47I didn't know that I had a condition until I was about eight.
0:18:47 > 0:18:49I was in fourth grade and I remember it distinctly.
0:18:51 > 0:18:55I woke up one morning and I was unable to move my left wrist.
0:18:58 > 0:19:02Jeanie's body grows new bone in places where there should be soft
0:19:02 > 0:19:04tissue, like muscle.
0:19:04 > 0:19:07The slightest knock or bump is a danger.
0:19:07 > 0:19:10Where most of us would bruise and then heal,
0:19:10 > 0:19:15Jeanie's body starts to make new bone on top of her existing bone
0:19:15 > 0:19:19and the reason this causes such a problem is because of the unique
0:19:19 > 0:19:21properties of bone itself.
0:19:26 > 0:19:30Two of the components that make bone so remarkable
0:19:30 > 0:19:32are calcium salts and protein.
0:19:33 > 0:19:35To understand what they both do,
0:19:35 > 0:19:38I'm going to take first one away and then the other.
0:19:41 > 0:19:43This is a chicken bone.
0:19:43 > 0:19:45It looks hard, it feels strong...
0:19:47 > 0:19:48..but look at this.
0:19:50 > 0:19:55The reason why it smashes like that is because I've burned away one of
0:19:55 > 0:19:58the key components of bone in this jar of bleach, here,
0:19:58 > 0:20:02and what's been left is the calcium salts, which are hard and brittle.
0:20:03 > 0:20:07Now, here I've got another bone and this one's been sitting in acid for
0:20:07 > 0:20:12seven days, which has dissolved all those calcium salts away.
0:20:12 > 0:20:13And look at this one.
0:20:14 > 0:20:20It's really bendy and flexible and that's because all that's left in
0:20:20 > 0:20:22this one is protein.
0:20:22 > 0:20:24Now, you can see how if your bone was like this,
0:20:24 > 0:20:27there'd be absolutely no way it would be able to support your weight.
0:20:27 > 0:20:29You just wouldn't be able to stand up.
0:20:30 > 0:20:36Real living bone is a combination of protein and calcium salts,
0:20:36 > 0:20:39making a material that's a bit like reinforced concrete.
0:20:39 > 0:20:41Hard, but flexible.
0:20:42 > 0:20:45Properties that are useful in the right place,
0:20:45 > 0:20:48but as they appeared at random in Jeanie,
0:20:48 > 0:20:53they caused her joints to lock and her entire body to become more rigid.
0:20:54 > 0:21:00At precisely this juncture where you might expect a normal person
0:21:00 > 0:21:02would've shut down their options and just given up,
0:21:02 > 0:21:07Jeanie decided that she wanted to really do something about her
0:21:07 > 0:21:12situation and her reaction to the difficulties she was presented with,
0:21:12 > 0:21:17was to reach out and form a community with other people with the same condition as her.
0:21:17 > 0:21:22And what they all desperately wanted to find out was why their bodies
0:21:22 > 0:21:26were growing a second skeleton and was there a cure?
0:21:26 > 0:21:30What they needed was someone with the expertise to take up their cause
0:21:30 > 0:21:31and find the answers.
0:21:32 > 0:21:36Doctor Fred Kaplan is an orthopaedic surgeon.
0:21:36 > 0:21:39Hi, Joey. How are you?
0:21:39 > 0:21:40Good to see you.
0:21:40 > 0:21:45As a young doctor he'd come across FOP and the condition intrigued him.
0:21:47 > 0:21:50FOP was the worst, the most catastrophic condition
0:21:50 > 0:21:54I'd ever encountered during my entire medical school training,
0:21:54 > 0:21:57residency training and, er, I couldn't do anything about it.
0:21:57 > 0:22:01This just looks like a single nucleotide substitution.
0:22:01 > 0:22:03It's in the coding region, so...
0:22:03 > 0:22:06Uncovering the mysteries of this condition to try and find its cause
0:22:06 > 0:22:08has become his life's work.
0:22:10 > 0:22:13Harry Eastlack was a patient who had FOP
0:22:13 > 0:22:15and willed his body to medicine.
0:22:17 > 0:22:21I often go to the museum to see Harry's skeleton, to observe it,
0:22:21 > 0:22:23and each time I go I learn something new.
0:22:26 > 0:22:28To discover what caused FOP,
0:22:28 > 0:22:31Doctor Kaplan needed to study as many people with the rare condition
0:22:31 > 0:22:33as he could find.
0:22:35 > 0:22:39Jeannie Peeper's support group gave him a unique opportunity.
0:22:41 > 0:22:45Every single patient we saw, they had a malformed toe, and interestingly,
0:22:45 > 0:22:50the great toe is the last part of the skeleton to form in the embryo.
0:22:50 > 0:22:53It's as if the body gets to the end of forming a skeleton and doesn't
0:22:53 > 0:22:55form that last part properly
0:22:55 > 0:22:59and then decides to form a second skeleton.
0:22:59 > 0:23:01Can you bend forward for me, Joe?
0:23:02 > 0:23:06Blood samples showed that the FOP patients all had too much of a
0:23:06 > 0:23:10particular protein involved in making bone.
0:23:10 > 0:23:13The production of this protein is controlled by our genes,
0:23:13 > 0:23:17so it seemed likely a faulty gene was causing the problem.
0:23:18 > 0:23:22Because singing helps expand the lungs and it actually helps...
0:23:22 > 0:23:28Dr Kaplan knew that there was a genetic mutation most likely behind
0:23:28 > 0:23:30this incredibly rare condition
0:23:30 > 0:23:32and he was leaving no stone unturned.
0:23:34 > 0:23:37Searching the literature, he came across a paper
0:23:37 > 0:23:41identifying a gene that was causing a similar bone
0:23:41 > 0:23:42condition in chickens.
0:23:42 > 0:23:46And he was convinced the two must be connected.
0:23:47 > 0:23:52So he looked at the DNA of his patients to see if they had the same faulty gene.
0:23:52 > 0:23:55It's the kind of eureka moment that scientists hope for
0:23:55 > 0:23:58but rarely happens.
0:23:58 > 0:24:03But this time, Dr Kaplan found exactly what he was looking for -
0:24:03 > 0:24:08the same error in the genes of every one of his patients,
0:24:08 > 0:24:13a single spelling mistake in their entire DNA code.
0:24:14 > 0:24:17One letter out of six billion.
0:24:17 > 0:24:19That's not one needle in one haystack,
0:24:19 > 0:24:22that's one needle in six billion haystacks.
0:24:22 > 0:24:25It was an amazing finding and it changed everything.
0:24:27 > 0:24:30One of the first people I called with the news was Jeannie.
0:24:30 > 0:24:34I was elated.
0:24:34 > 0:24:35I couldn't believe it.
0:24:37 > 0:24:40And I told him it was truly the greatest gift
0:24:40 > 0:24:45of my life to have the gene discovered in my lifetime.
0:24:45 > 0:24:48I think she was crying on the phone.
0:24:48 > 0:24:51First it was a stunned silence
0:24:51 > 0:24:53and then, um...
0:24:53 > 0:24:56er, almost disbelief.
0:24:58 > 0:25:01Without Jeannie's help studying this condition,
0:25:01 > 0:25:05even embarking upon studying this condition would have been almost impossible.
0:25:05 > 0:25:08One could not have a better partner in this work than Jeannie.
0:25:10 > 0:25:16Here is the case of a woman who has just single-handedly pushed things
0:25:16 > 0:25:20forward because of her own very difficult situation,
0:25:20 > 0:25:22but also when you see a doctor like Dr Kaplan,
0:25:22 > 0:25:26you can see that he is a man who single-mindedly
0:25:26 > 0:25:28just wouldn't let this drop
0:25:28 > 0:25:32and between this patient and this doctor the most extraordinary
0:25:32 > 0:25:35amount of progress has been made in a very difficult disease
0:25:35 > 0:25:36in a very short time.
0:25:39 > 0:25:43There is no question in my mind that all the ingredients are there
0:25:43 > 0:25:45eventually for a cure.
0:25:45 > 0:25:47I don't know when that will come
0:25:47 > 0:25:51but it can't come a minute too soon.
0:25:51 > 0:25:56Dr Kaplan is convinced that curing FOP will only be the beginning,
0:25:56 > 0:26:01that this work will ultimately help develop treatments for common bone
0:26:01 > 0:26:04problems such as fractures and osteoporosis.
0:26:07 > 0:26:12We often think that common diseases will help us understand rare ones.
0:26:12 > 0:26:15Essentially, it's the other way round.
0:26:15 > 0:26:17Rare diseases help us understand common ones.
0:26:17 > 0:26:20The key to the closet is the key to the kingdom.
0:26:25 > 0:26:29Jeannie's case reminds us that the skeleton is a finely balanced
0:26:29 > 0:26:33piece of natural engineering.
0:26:33 > 0:26:38It protects the vital organs beneath it and it also provides a scaffold
0:26:38 > 0:26:42on which are the muscles and other soft tissues that enable us to move,
0:26:42 > 0:26:46and then just under the skin there is a layer of fat that cushions
0:26:46 > 0:26:48and insulates our body.
0:26:48 > 0:26:52Now, fat often gets a really bad name,
0:26:52 > 0:26:54but actually if it is absent from our bodies,
0:26:54 > 0:26:57the effect can be really dramatic,
0:26:57 > 0:27:00as our next extraordinary case shows.
0:27:04 > 0:27:06Professional cyclists are usually very lean.
0:27:08 > 0:27:11But Tom takes this to extremes.
0:27:15 > 0:27:17I'm Tom Staniford.
0:27:17 > 0:27:20I'm one of eight people worldwide with a very rare condition
0:27:20 > 0:27:22that means I don't store fat normally.
0:27:25 > 0:27:28Tom's rare condition is MDP syndrome.
0:27:29 > 0:27:32One of its main features is lipodystrophy,
0:27:32 > 0:27:36which means his body physically can't store fat under his skin
0:27:36 > 0:27:39like the rest of us do.
0:27:39 > 0:27:41And if that sounds like a blessing, it isn't.
0:27:41 > 0:27:44We all depend on fat for more than we realise.
0:27:44 > 0:27:46Without bending your knee, please
0:27:46 > 0:27:47That's it.
0:27:47 > 0:27:52People have a tendency to think that having no body fat as a cyclist must
0:27:52 > 0:27:55be great and it would be a tremendous advantage,
0:27:55 > 0:27:58but the reality is that it's a big disadvantage.
0:27:58 > 0:28:01- Are you happy with that?- Yeah.
0:28:01 > 0:28:04If I come off, the risk of injury is higher.
0:28:04 > 0:28:08It's harder to get comfortable in cold weather.
0:28:08 > 0:28:11So because I have no body fat around the joints,
0:28:11 > 0:28:13my muscles are all naturally tight
0:28:13 > 0:28:17and I have reduced flexibility across all my joints.
0:28:18 > 0:28:22In an age where people are obsessed with losing weight and being thin,
0:28:22 > 0:28:26it might seem as if what Tom has is something that people might envy,
0:28:26 > 0:28:29but in fact, the absolute opposite is true.
0:28:29 > 0:28:31OK, what can I get for you?
0:28:31 > 0:28:33Could I please have a flat white?
0:28:34 > 0:28:36And let's have a look at the menu.
0:28:37 > 0:28:39Instead of hitting the cake,
0:28:39 > 0:28:42Tom has to be particularly careful with his diet.
0:28:42 > 0:28:45I think I'd like to go for the bubble and squeak, please, Grace.
0:28:45 > 0:28:46OK.
0:28:47 > 0:28:50From around 12 years old and onwards,
0:28:50 > 0:28:55I started to notice that my energy levels were really fluctuating.
0:28:55 > 0:28:57It turns out that I am actually type two diabetic,
0:28:57 > 0:29:00which was a big shock because typically people
0:29:00 > 0:29:05with type two diabetes are more towards the obese side of things.
0:29:05 > 0:29:08As you can see, I'm not really obese.
0:29:09 > 0:29:12Tom's body is a mystery.
0:29:12 > 0:29:15On the one hand, he's not able to store fat the way the rest of us do,
0:29:15 > 0:29:17which makes him incredibly thin,
0:29:17 > 0:29:21in fact, medically underweight, and yet on the other hand,
0:29:21 > 0:29:23he suffers from type two diabetes,
0:29:23 > 0:29:27which is something we associate with people who are overweight.
0:29:27 > 0:29:30Tom needed someone who could solve this conundrum.
0:29:32 > 0:29:34Professor Andrew Hattersley
0:29:34 > 0:29:39is an expert in diabetes at the University of Exeter.
0:29:39 > 0:29:42When he first met Tom, he was convinced the clue
0:29:42 > 0:29:46to his strange condition must lie in his genes.
0:29:46 > 0:29:50The way I like to think of this is that Tom, like all of us,
0:29:50 > 0:29:53has three billion bits of genetic information.
0:29:53 > 0:29:57But just one of those was wrong
0:29:57 > 0:29:59in order to give him all these problems.
0:29:59 > 0:30:05So it was like going into a library and trying to find a misspelt word
0:30:05 > 0:30:07in one of those books.
0:30:07 > 0:30:11And the problem was, if we did come to a book and open it and find there
0:30:11 > 0:30:12is a spelling mistake there,
0:30:12 > 0:30:15we couldn't be sure that that was the cause of Tom's problems.
0:30:15 > 0:30:18As soon as we found another patient with the exactly the same spelling
0:30:18 > 0:30:22mistake, then that would really make the diagnosis.
0:30:22 > 0:30:25We needed that second case if we were going to make progress.
0:30:26 > 0:30:30But Professor Hattersley couldn't find another case like Tom's.
0:30:30 > 0:30:32It seemed he was unique.
0:30:32 > 0:30:35And then a chance meeting changed everything.
0:30:38 > 0:30:42It was a visiting doctor from India who told us that she had got a
0:30:42 > 0:30:45patient and there was this remarkable thing that we had
0:30:45 > 0:30:49this young man about the same age as Tom, who had exactly the same
0:30:49 > 0:30:51physical appearance, who had lipodystrophy.
0:30:51 > 0:30:53So it was quite odd,
0:30:53 > 0:30:58looking at almost a mirror image of myself in an entirely different life
0:30:58 > 0:31:00on the other side of the world.
0:31:00 > 0:31:03What this meant was that we now had a second case.
0:31:03 > 0:31:07Now, Professor Hattersley could compare Tom's genes
0:31:07 > 0:31:12with the Indian patient's and finally he made a breakthrough.
0:31:12 > 0:31:17He identified a mutation in a gene that was common to both men.
0:31:17 > 0:31:22Now suddenly we could understand why Tom had got diabetes,
0:31:22 > 0:31:24why Tom had got the other things as well,
0:31:24 > 0:31:28and we had a test that allowed us to pick out this syndrome
0:31:28 > 0:31:30with all the other features.
0:31:30 > 0:31:34Professor Hattersley had found the cause of Tom's condition.
0:31:34 > 0:31:37And to see exactly how it affects the body,
0:31:37 > 0:31:41he performed an MRI scan on Tom and compared it to someone
0:31:41 > 0:31:43who stored fat normally.
0:31:43 > 0:31:48What we can see in the person who doesn't have lipodystrophy,
0:31:48 > 0:31:50is round the edge of the body,
0:31:50 > 0:31:54there is a layer of fat and if you look within the tummy itself,
0:31:54 > 0:31:57there is very little fat shown in the bright white.
0:31:57 > 0:32:01And then if we look at Tom's picture, and this is striking,
0:32:01 > 0:32:04that round the edge there really is no fat,
0:32:04 > 0:32:08but within the tummy we can see great accumulations of fat,
0:32:08 > 0:32:12so this is absolutely fat in the wrong place.
0:32:14 > 0:32:18What this means is that even though he can't store fat under his skin,
0:32:18 > 0:32:23he stores abnormally high levels of fat around his organs and it's
0:32:23 > 0:32:28associated with type two diabetes, and it's not a healthy situation.
0:32:28 > 0:32:32And then if you remember the advice I gave you early on, Tom.
0:32:32 > 0:32:35Avoid the takeaways.
0:32:36 > 0:32:40The revelation that Tom does have fat in his body after all,
0:32:40 > 0:32:43just in all the wrong places, has changed his life.
0:32:46 > 0:32:49One thing that Tom did brilliantly was to increase his activity.
0:32:51 > 0:32:55And as a national standard cyclist with all the training that involved,
0:32:55 > 0:32:58that helped as well as the diet to keep the fat away
0:32:58 > 0:32:59from the wrong places.
0:33:00 > 0:33:02And with those two measures alone,
0:33:02 > 0:33:07he has been able to almost remove the need to take any medication,
0:33:07 > 0:33:13and he has significantly improved the level of abdominal fat that he has.
0:33:14 > 0:33:18Understanding Tom's condition and how he's managed to live with it
0:33:18 > 0:33:21offers hope for the more than four million people
0:33:21 > 0:33:24with type two diabetes across Britain.
0:33:24 > 0:33:28Half the people with type two diabetes that I see are not obese,
0:33:28 > 0:33:32it's just that they are too fat for their storage.
0:33:32 > 0:33:34It has really helped me to see Tom,
0:33:34 > 0:33:38who is about the most extreme case of that that you could ever find
0:33:38 > 0:33:42because by seeing that you really can understand the much more general
0:33:42 > 0:33:44idea of what's the problem in type two diabetes.
0:33:47 > 0:33:51All the cases we've looked at so far have shown that there's a delicate
0:33:51 > 0:33:54balance which is required for the processes that build
0:33:54 > 0:33:57the vital organs and structures of our bodies.
0:33:57 > 0:34:01But how does the body know what form to take
0:34:01 > 0:34:03and what direction to grow in?
0:34:03 > 0:34:08Well, the answer is one of the unsung heroes of the human body.
0:34:08 > 0:34:11It's known as the endocrine, or hormone system,
0:34:11 > 0:34:14and as with so many things in medicine,
0:34:14 > 0:34:17one of the best ways to understand how the endocrine system works
0:34:17 > 0:34:21is to look what happens when some part of it goes wrong.
0:34:26 > 0:34:30The tallest man ever known was Robert Wadlow from Alton, Illinois.
0:34:30 > 0:34:34By the time he was nine, he was a full head and shoulders taller
0:34:34 > 0:34:37than his father and could carry him up the stairs.
0:34:39 > 0:34:43But this wasn't just a case of a boy growing a bit taller than his friends.
0:34:43 > 0:34:47In fact, Robert had an enlarged pituitary gland
0:34:47 > 0:34:51and it was pushing abnormally high levels of growth hormone
0:34:51 > 0:34:56to his body, forcing him to grow at a colossal rate.
0:34:56 > 0:34:59And by the time he died at the age of 22,
0:34:59 > 0:35:04he was eight foot 11 inches tall and still growing.
0:35:04 > 0:35:06As Robert Wadlow's case shows,
0:35:06 > 0:35:11the endocrine system plays a crucial role in how our body's built.
0:35:11 > 0:35:14And it's made up of several different glands.
0:35:14 > 0:35:18Here we've got the adrenal glands
0:35:18 > 0:35:21and up a bit higher here we've got the thyroid gland
0:35:21 > 0:35:24and we've got the pituitary gland
0:35:24 > 0:35:26and this is like a master control system,
0:35:26 > 0:35:30so all of these glands send different hormones around the body
0:35:30 > 0:35:33at different times, and by doing that,
0:35:33 > 0:35:36the system controls our growth,
0:35:36 > 0:35:40our development, our sleep and even our mood.
0:35:40 > 0:35:44And to appreciate the power these hormones have on our bodies,
0:35:44 > 0:35:48our next case shows how dramatically the effect is
0:35:48 > 0:35:51when the balance is even slightly disturbed.
0:35:57 > 0:36:00I'm a body confidence activist...
0:36:00 > 0:36:01a model...
0:36:02 > 0:36:04..and I'm a fabulous bearded lady.
0:36:07 > 0:36:09Right.
0:36:09 > 0:36:12My name is Harnaam Kaur and I can grow a beard.
0:36:16 > 0:36:20When you see Harnaam Kaur, it's not just her amazing beard that strikes you.
0:36:20 > 0:36:22It's also her confidence.
0:36:22 > 0:36:25But to get here has been a long and challenging journey.
0:36:25 > 0:36:29So your whole body goes round and you're looking over your shoulder.
0:36:29 > 0:36:32I developed facial hair at the age of ten years old.
0:36:33 > 0:36:35I was bullied horrendously.
0:36:35 > 0:36:37It was absolutely horrific.
0:36:37 > 0:36:39I like the natural one.
0:36:40 > 0:36:44Harnaam has a condition called polycystic ovary syndrome or PCOS,
0:36:46 > 0:36:50an imbalance in the hormones that control her reproductive system.
0:36:52 > 0:36:56In most women, the ovaries produce just the right amounts of three
0:36:56 > 0:37:00different hormones - oestrogen, progesterone, and testosterone,
0:37:00 > 0:37:02a hormone found in high levels in men.
0:37:05 > 0:37:08But Harnaam's ovaries produce too much testosterone,
0:37:08 > 0:37:11and this is what triggers excess hair to grow on her face.
0:37:13 > 0:37:17When it first appeared, she tried desperately to get rid of it.
0:37:20 > 0:37:23I removed my facial hair in many different ways.
0:37:23 > 0:37:26I used to thread, wax, shave, bleach.
0:37:26 > 0:37:28I even used hair removal creams as well.
0:37:29 > 0:37:33But nothing Harnaam did stopped the hair from growing back.
0:37:35 > 0:37:38I remember sitting on my bed absolutely ready to end it all.
0:37:38 > 0:37:41I was just sick and tired. I had the worst day in school.
0:37:41 > 0:37:44And I thought, well, today is the day I just want to go.
0:37:44 > 0:37:47And I don't know how it happened but
0:37:47 > 0:37:49I had a thought in my head.
0:37:49 > 0:37:53I thought, well, if the bullies are allowed to live,
0:37:53 > 0:37:56why am I trying to end my life when I have done nothing wrong?
0:37:58 > 0:38:01Harnaam made a decision that would change her life.
0:38:01 > 0:38:05To accept that her body was different and grow a beard.
0:38:08 > 0:38:11The whole school saw me and they saw what I was and who I was and I
0:38:11 > 0:38:13thought, do you know? If you want to live like this,
0:38:13 > 0:38:15you have to keep on going at it.
0:38:15 > 0:38:18And once you stick to something, you've got to be strong.
0:38:18 > 0:38:20If you're different, you have to be strong.
0:38:22 > 0:38:26Although Harnaam's is an extreme case, around the world,
0:38:26 > 0:38:31between 5% and 10% of women of reproductive age have PCOS.
0:38:31 > 0:38:35So why does it happen and why does it cause symptoms
0:38:35 > 0:38:38that are so challenging to live with?
0:38:42 > 0:38:46Stephen Franks is Professor of Reproductive Endocrinology
0:38:46 > 0:38:48at Imperial College London.
0:38:48 > 0:38:51He's been investigating the hormones involved in this
0:38:51 > 0:38:54condition and the effects of testosterone, in particular.
0:38:58 > 0:39:01The testosterone levels in women with polycystic ovary syndrome
0:39:01 > 0:39:04are typically either slightly raised
0:39:04 > 0:39:08or actually still within the upper limits of the normal range,
0:39:08 > 0:39:11so they're not screamingly high and nowhere near the levels
0:39:11 > 0:39:16in men, but high enough to cause the problems that we see
0:39:16 > 0:39:18with unwanted hair.
0:39:19 > 0:39:22Professor Franks and his team wondered if the root cause
0:39:22 > 0:39:26of these hormone imbalances might be genetic.
0:39:26 > 0:39:31They're now part of a worldwide study analysing the genes of thousands of women.
0:39:34 > 0:39:38The findings so far do show up some genes that we would expect
0:39:38 > 0:39:43to be involved, but a lot of others that we didn't expect at all,
0:39:43 > 0:39:44and that's the intriguing thing.
0:39:44 > 0:39:46What do they mean, we're asking ourselves,
0:39:46 > 0:39:51and I think that's what's going to provide us with further insights
0:39:51 > 0:39:53into what causes the syndrome.
0:39:55 > 0:39:59Professor Franks believes that identifying the genes that are causing the
0:39:59 > 0:40:03hormone imbalance will help tailor new treatments to individual women.
0:40:05 > 0:40:09We hope that the genetic studies will lead to better methods
0:40:09 > 0:40:12of diagnosis and better methods of treatment.
0:40:12 > 0:40:15It's a complex disorder, so I don't think there'll be one cure.
0:40:15 > 0:40:18Personalised medicine, if you like.
0:40:25 > 0:40:28I hope in the future there is a lot more answers
0:40:28 > 0:40:32to why polycystic ovaries happen in a woman's body,
0:40:33 > 0:40:36how to overcome it and maybe even a final cure.
0:40:36 > 0:40:38Just one hand up.
0:40:38 > 0:40:43Harnaam's case really brings home the vital role hormones play
0:40:43 > 0:40:45in controlling our body plan.
0:40:48 > 0:40:50My beard has given me so much strength.
0:40:51 > 0:40:55It's given me a sense of identity, a sense of self-worth.
0:40:55 > 0:40:59She is my lady beard. I've given her a persona.
0:40:59 > 0:41:00She's going to be ten years old next year
0:41:00 > 0:41:03and I'm going to celebrate her so much.
0:41:03 > 0:41:06But, yeah, she's something that I absolutely love and adore.
0:41:09 > 0:41:15The human body is a complex network of systems, all working together,
0:41:15 > 0:41:17and in our final few cases,
0:41:17 > 0:41:21we're going to look at the amazing organ that coordinates them all.
0:41:21 > 0:41:25The most crucial part of our whole body plan.
0:41:25 > 0:41:26The brain.
0:41:26 > 0:41:30It's the command and control centre of the whole body,
0:41:30 > 0:41:33keeping every part of the plan working.
0:41:33 > 0:41:37And there's a fascinating case that shows us just how strongly wired
0:41:37 > 0:41:40into our brains that fundamental plan is.
0:41:45 > 0:41:49Bryan Wagner has a condition that's difficult for most of us to imagine.
0:41:49 > 0:41:53He can feel pain in a limb that's no longer there.
0:41:53 > 0:41:56Something that shouldn't be physically possible.
0:42:01 > 0:42:05On December 17 2007, I was serving in Baghdad, Iraq,
0:42:05 > 0:42:08and we were out on a mission that day and during the mission
0:42:08 > 0:42:13we got blown up by a very large IED, or improvised explosive device.
0:42:14 > 0:42:18Bryan was evacuated back to the US and had to have surgery
0:42:18 > 0:42:20to amputate his right leg.
0:42:20 > 0:42:23But strangely, he continued to experience pain
0:42:23 > 0:42:26as if his missing limb was still there.
0:42:26 > 0:42:29It is a condition called phantom limb.
0:42:29 > 0:42:32It feels like you're getting stabbed in the arch of your foot
0:42:32 > 0:42:34with a giant nail or
0:42:34 > 0:42:37like your foot is in a vice
0:42:37 > 0:42:39and someone's cranking down as hard as they can or your
0:42:39 > 0:42:43foot's on fire and there's nothing you can do to save it.
0:42:44 > 0:42:47Normally, we experience the sensation of pain
0:42:47 > 0:42:50when the nerves in the part of the body that's been hurt
0:42:50 > 0:42:54or damaged send pain signals to the brain.
0:42:54 > 0:42:57But after an amputation, the nerves have gone,
0:42:57 > 0:42:59along with the rest of the limb.
0:42:59 > 0:43:04So how is it possible to feel pain in a limb that isn't there?
0:43:07 > 0:43:11One scientist has made it his mission to understand this condition
0:43:11 > 0:43:14and find a way to stop the pain.
0:43:14 > 0:43:19I am V S Ramachandran and I study the human brain using mirrors.
0:43:20 > 0:43:24Professor V S Ramachandran is a neuroscientist
0:43:24 > 0:43:27at the University of California, San Diego.
0:43:32 > 0:43:37He's spent years investigating what might cause these strange sensations.
0:43:37 > 0:43:41His work has challenged long-held ideas of how the brain works.
0:43:43 > 0:43:47The original dogma when I was a student was the notion
0:43:47 > 0:43:49that connections in the brain are laid down
0:43:49 > 0:43:52in early infancy or even in foetal life and once they are formed
0:43:52 > 0:43:54there's nothing you can do to change them.
0:43:54 > 0:43:58Connections in the adult brain are fixed and non-malleable.
0:43:59 > 0:44:02Professor Ramachandran questioned whether the brain
0:44:02 > 0:44:04really was this rigid.
0:44:04 > 0:44:08He wondered whether a change to the body as drastic as losing a limb
0:44:08 > 0:44:11might also cause changes in the brain.
0:44:12 > 0:44:15Other neuroscientists might have used cutting edge technology
0:44:15 > 0:44:20to test this idea, but instead, Ramachandran used a cotton bud.
0:44:23 > 0:44:26The first patient I saw was a patient named Victor
0:44:26 > 0:44:27and he had a vivid phantom left arm
0:44:27 > 0:44:29and I tested him with a Q-tip
0:44:29 > 0:44:32touching different parts of his body.
0:44:32 > 0:44:33He said, "You are touching my chest,
0:44:33 > 0:44:35"you are touching my left chest,
0:44:35 > 0:44:38"my left shoulder, my right elbow."
0:44:38 > 0:44:40Then when I came to the left side of his face and I touched him,
0:44:40 > 0:44:42he said, "Oh, my God, you're touching my phantom thumb."
0:44:44 > 0:44:46When Victor's face was touched,
0:44:46 > 0:44:49he could feel his phantom hand
0:44:49 > 0:44:51and Ramachandran thought he knew why.
0:44:52 > 0:44:54After the amputation,
0:44:54 > 0:44:58Victor's brain had stopped receiving signals from his left arm.
0:44:58 > 0:45:02Now it was trying to restore those signals by making new connections
0:45:02 > 0:45:04with other parts of his body.
0:45:04 > 0:45:07His brain had started to rewire itself.
0:45:09 > 0:45:12These experiments showed for the first time that there is
0:45:12 > 0:45:15a tremendous amount of malleability in the adult brain.
0:45:19 > 0:45:22This rewiring of the brain was restoring a sense of touch
0:45:22 > 0:45:24in the lost limb.
0:45:26 > 0:45:29But there was one thing it couldn't get over.
0:45:29 > 0:45:32The limb is not actually there.
0:45:32 > 0:45:34Even if the brain could trick you into feeling it,
0:45:34 > 0:45:38your eyes would never see the phantom limb.
0:45:38 > 0:45:42Ramachandran wondered if this conflict between touch and sight
0:45:42 > 0:45:46might be a trigger for the pain amputees were experiencing.
0:45:48 > 0:45:53Every time the brain sends a command, it's getting a discrepancy in visual feedback,
0:45:53 > 0:45:55saying that it's not moving
0:45:55 > 0:45:58and the discrepancy itself is partly experienced as pain.
0:45:58 > 0:46:02Ramachandran had an idea that if patients could see a limb
0:46:02 > 0:46:05where their brain was telling them they could feel one,
0:46:05 > 0:46:09this might reduce the confusion and the pain.
0:46:09 > 0:46:13Now he needed a way to test his theory.
0:46:13 > 0:46:15So I said, let's use virtual reality and then I realised
0:46:15 > 0:46:17it's going to cost hundreds of thousands of dollars,
0:46:17 > 0:46:20but then I hit on a technique of using a 2 mirror.
0:46:23 > 0:46:26The idea was that the patient would look at the reflection
0:46:26 > 0:46:28of their intact limb in the mirror
0:46:28 > 0:46:31to trick their brain into thinking they could see their
0:46:31 > 0:46:34missing limb once again.
0:46:34 > 0:46:37Professor Ramachandran called it mirror therapy.
0:46:39 > 0:46:42I remember my first patient, he chuckled, and he said, "My phantom is moving again."
0:46:42 > 0:46:44And I said, "Does it hurt or help?"
0:46:44 > 0:46:48He said, "On the contrary it helps me. It alleviates the phantom pain."
0:46:48 > 0:46:52Since the early success of this simple technique,
0:46:52 > 0:46:55thousands of amputees all over the world have benefited
0:46:55 > 0:46:58from mirror therapy.
0:46:58 > 0:47:00One of them is Bryan Wagner,
0:47:00 > 0:47:04and he's about to meet Professor Ramachandran for the first time.
0:47:04 > 0:47:08I am absolutely stoked to meet the professor that came up with this idea.
0:47:08 > 0:47:11The guy who through all of his medical training
0:47:11 > 0:47:14was sitting in a room one day and was like, "Hey, let's use a mirror."
0:47:14 > 0:47:17That just blows my mind.
0:47:18 > 0:47:19Good morning, sir.
0:47:19 > 0:47:22After months of excruciating pain in his phantom limb,
0:47:22 > 0:47:25Bryan first tried mirror therapy with a physiotherapist
0:47:25 > 0:47:28who had heard of Ramachandran's work.
0:47:29 > 0:47:33It involved placing a mirror to make it look as though Bryan still had
0:47:33 > 0:47:35both his legs intact.
0:47:35 > 0:47:39And asking him to think about moving them.
0:47:39 > 0:47:43I was thinking, "OK, let's just run with this and see where it goes."
0:47:43 > 0:47:47She said, "I want you to move your real foot and then move
0:47:47 > 0:47:50"your phantom foot." So I moved my ankle up and down,
0:47:50 > 0:47:52I wiggled my toes, in and out,
0:47:52 > 0:47:55and I would do this for about 20 minutes, twice a day,
0:47:55 > 0:47:56five days a week.
0:47:58 > 0:48:04And I started noticing the pain decreasing in time and intensity
0:48:04 > 0:48:08about three weeks into actually doing this study.
0:48:09 > 0:48:12Examining Bryan for the first time,
0:48:12 > 0:48:15Ramachandran explains why his pain has reduced.
0:48:16 > 0:48:19So you look in the mirror, what you see is your brain sends a command to
0:48:19 > 0:48:22the phantom, the phantom has been resurrected optically using the mirror.
0:48:22 > 0:48:24It's not really there, obviously.
0:48:24 > 0:48:26But it looks like it's following your commands again,
0:48:26 > 0:48:28and thereby alleviate the pain.
0:48:31 > 0:48:33After I ended mirror therapy,
0:48:33 > 0:48:36my pain level went from eight to nine out of ten
0:48:36 > 0:48:40to down to like two to three out of ten.
0:48:40 > 0:48:45I don't think I would be where I am if he didn't have an
0:48:45 > 0:48:47idea to stick a mirror between my legs...
0:48:49 > 0:48:50..and move a fake foot around.
0:48:52 > 0:48:55Professor Ramachandran's mirror therapy has since been used
0:48:55 > 0:48:59successfully on patients with stroke and arthritis.
0:48:59 > 0:49:03But perhaps his greatest contribution has been
0:49:03 > 0:49:06to transform the way we think about the brain.
0:49:09 > 0:49:13Thanks to Ramachandran's research and the work of many other scientists,
0:49:13 > 0:49:17we now understand the brain isn't fixed and rigid from the time
0:49:17 > 0:49:19we reach adulthood.
0:49:19 > 0:49:23It continues to change and adapt throughout our lives.
0:49:23 > 0:49:26But there are some events so catastrophic,
0:49:26 > 0:49:28such as a fracture to the spine,
0:49:28 > 0:49:33that this normal process of adaptation simply can't take place.
0:49:33 > 0:49:37And it's in one such case that I've witnessed one of the most amazing
0:49:37 > 0:49:40innovations in modern medicine.
0:49:43 > 0:49:46I was a freshman in college.
0:49:46 > 0:49:48I was majoring in business.
0:49:49 > 0:49:53I really enjoyed playing lacrosse, doing hiking with friends,
0:49:53 > 0:49:58playing golf and kind of just being your average college student.
0:50:01 > 0:50:04Ian was a young man with everything going for him.
0:50:04 > 0:50:07Suddenly, his life completely changed.
0:50:09 > 0:50:11I was on vacation with a few friends.
0:50:11 > 0:50:13I was out in the ocean.
0:50:13 > 0:50:17I dove into a wave and it pushed me down into a sand bar
0:50:17 > 0:50:21that I didn't see there so it wasn't as deep as I thought it would be.
0:50:21 > 0:50:24I instantly knew something was wrong once I hit my head
0:50:24 > 0:50:26and I couldn't get up from the water.
0:50:29 > 0:50:33What happened to Ian during that accident was that he broke his neck.
0:50:35 > 0:50:36And in that one moment,
0:50:36 > 0:50:40he went from being a young man with his entire life ahead of him
0:50:40 > 0:50:45to a young man fighting for his life in a hospital bed.
0:50:45 > 0:50:48Almost impossible to imagine,
0:50:48 > 0:50:50something so devastating.
0:50:51 > 0:50:54After I had the surgery to stabilise my spine,
0:50:54 > 0:50:58I got the diagnosis from the doctor that I was a quadriplegic.
0:50:58 > 0:51:04I would have 99% chance of never walking again.
0:51:04 > 0:51:08Most likely not regaining any use of my arms.
0:51:08 > 0:51:12I would need to have almost 24-7 care
0:51:12 > 0:51:14just to go about my daily life.
0:51:16 > 0:51:20With a fracture to the spine and a severe spinal cord injury,
0:51:20 > 0:51:24there is a complete loss of communication between the brain
0:51:24 > 0:51:26and the rest of the body.
0:51:26 > 0:51:28And beyond any other kind of injury,
0:51:28 > 0:51:32this has always been thought to be completely unfixable.
0:51:32 > 0:51:35But Ian's case is challenging this,
0:51:35 > 0:51:39thanks to a new idea that's come out of the blue
0:51:39 > 0:51:41and from someone who isn't even a doctor.
0:51:43 > 0:51:46Nick Annetta is an electrical engineer.
0:51:46 > 0:51:51He and his colleagues have developed a new technology they hope might be
0:51:51 > 0:51:55able to reconnect the brain and the body after a spinal injury.
0:51:55 > 0:51:57It is called a neural bypass.
0:51:59 > 0:52:03So the neural bypass technology can be thought of as
0:52:03 > 0:52:06a detour around a traffic accident.
0:52:08 > 0:52:12So the traffic can't flow any more because it hits the accident
0:52:12 > 0:52:14in the spinal cord,
0:52:14 > 0:52:18so we create this detour from the brain around the accident
0:52:18 > 0:52:20then down to the muscles so that traffic can flow again.
0:52:22 > 0:52:26But this was just a concept developed by engineers in a lab.
0:52:26 > 0:52:29To find out if it would work in a person,
0:52:29 > 0:52:32Nick joined forces with neurosurgeon Professor Ali Rezai
0:52:32 > 0:52:35at the Ohio State University.
0:52:37 > 0:52:40Together, they worked out it was possible in theory,
0:52:40 > 0:52:44but in practice they would need to find a patient willing to undergo
0:52:44 > 0:52:46radical brain surgery.
0:52:47 > 0:52:48And I was all for it.
0:52:48 > 0:52:50It was something that I was really excited about,
0:52:50 > 0:52:53but then came the million-dollar question.
0:52:53 > 0:52:58OK, well, can we crack your head open and have brain surgery
0:52:58 > 0:52:59that you don't really need?
0:52:59 > 0:53:02But you can potentially regain use of your arm
0:53:02 > 0:53:05and help really push the research further?
0:53:05 > 0:53:08I decided to go ahead and have the surgery.
0:53:10 > 0:53:13It was a really special moment in Ian's life when he was given an
0:53:13 > 0:53:19opportunity by this very unusual team of electrical engineers and
0:53:19 > 0:53:24neurosurgeon, neuroscientists to be their guinea pig.
0:53:26 > 0:53:30What the team had planned was truly radical.
0:53:30 > 0:53:33They wanted to read the electrical signals from Ian's brain
0:53:33 > 0:53:36and use them to give him back the ability to move.
0:53:39 > 0:53:43In April 2014, they opened up Ian's skull
0:53:43 > 0:53:46and inserted a tiny chip into the area of his brain
0:53:46 > 0:53:48responsible for hand movements.
0:53:50 > 0:53:52It was an incredibly risky procedure.
0:53:55 > 0:53:57This is a major surgery that he had.
0:53:57 > 0:53:59It might be kind of routine for the neurosurgeons.
0:53:59 > 0:54:02As an engineer, looking at someone's skull opened up,
0:54:02 > 0:54:07I was concerned for him, so once we knew that he was doing all right,
0:54:07 > 0:54:09then it became this waiting game of when do we get
0:54:09 > 0:54:12to connect up with Ian?
0:54:13 > 0:54:16It took about a month for Ian to recover from the surgery.
0:54:16 > 0:54:21Only then could the engineers plug into the device in Ian's brain
0:54:21 > 0:54:23and start trying to read the signals.
0:54:25 > 0:54:27We started seeing signals like this.
0:54:28 > 0:54:33Now, we had to learn the way Ian's brain was talking
0:54:33 > 0:54:35about each different motion,
0:54:35 > 0:54:38so we asked Ian to think about a particular motion like closing
0:54:38 > 0:54:41his hand and then we would look at the firing pattern
0:54:41 > 0:54:43of the neurons for that motion.
0:54:43 > 0:54:47And the machine learning algorithm that we run would pick out
0:54:47 > 0:54:50these subtly different patterns and be able to recognise
0:54:50 > 0:54:53these different motions.
0:54:55 > 0:54:59Ian started visiting the university three times a week for training
0:54:59 > 0:55:03sessions. He watched hand movements on a computer screen and tried to
0:55:03 > 0:55:07imagine performing them in painstaking detail,
0:55:07 > 0:55:11while the computer attempted to decipher his thoughts.
0:55:15 > 0:55:19So after months and months of him going through this training,
0:55:19 > 0:55:22they then came to the day where they wanted to try everything out
0:55:22 > 0:55:25and see if it worked.
0:55:25 > 0:55:27So a really amazing thing to see,
0:55:27 > 0:55:31Ian on that day with the stimulator wrapped around his arm,
0:55:31 > 0:55:34each bit attached to different muscles in his arm.
0:55:34 > 0:55:37He was asked to try and close his hand.
0:55:41 > 0:55:42Good.
0:55:44 > 0:55:47When we were able to first see that motion of me just
0:55:47 > 0:55:49opening and closing my hand,
0:55:49 > 0:55:53based on my thought control, it was extremely exciting.
0:55:54 > 0:55:57That was something that I thought I would never be able to do
0:55:57 > 0:55:58since my accident.
0:56:02 > 0:56:04It was a huge relief for us.
0:56:04 > 0:56:08It meant that this was really going to work and we really had something
0:56:08 > 0:56:11here, but also very exciting just to see Ian himself do this.
0:56:11 > 0:56:14I couldn't think of somebody else that I would want to see
0:56:14 > 0:56:15do this more.
0:56:17 > 0:56:20Ian has progressed with this technology
0:56:20 > 0:56:23from a C5 level where he has some proximal movements
0:56:23 > 0:56:26of his shoulder to a C7, C8,
0:56:26 > 0:56:29where he has individual movements of his fingers.
0:56:29 > 0:56:32Which is remarkable and that has never been shown before.
0:56:35 > 0:56:40Doctors are always so cautious in what they want to claim for progress,
0:56:40 > 0:56:43but you can see the palpable excitement.
0:56:43 > 0:56:48The hope would be that if you can improve the function of somebody
0:56:48 > 0:56:51who was expected to have none,
0:56:51 > 0:56:54how much more could you do for other people?
0:56:54 > 0:56:56How far could this be pushed?
0:56:57 > 0:57:01At the moment, this system can only be used in the lab,
0:57:01 > 0:57:03but the goal is to make it wireless
0:57:03 > 0:57:05so that Ian can use it at home,
0:57:05 > 0:57:10providing a permanent link between his brain and his body.
0:57:13 > 0:57:17The biggest reason I want to regain use of my hands,
0:57:17 > 0:57:21using the bypass system, is so I can live on my own.
0:57:22 > 0:57:26Maintaining my independence lets me feel like myself again.
0:57:26 > 0:57:31And being able to drive my car or being able to do certain things for
0:57:31 > 0:57:34myself and I don't have to rely on other people,
0:57:34 > 0:57:39it really makes me feel good about myself and know there's really not
0:57:39 > 0:57:42anything holding me back, or any big limitation on my life.
0:57:46 > 0:57:50The human body plan is unique within nature
0:57:50 > 0:57:53and unique to each one of us
0:57:53 > 0:57:56and the most extraordinary people on the planet are those
0:57:56 > 0:57:59who are helping to unlock its mysteries.
0:58:00 > 0:58:03Next time, I'll reveal how the human body can adapt
0:58:03 > 0:58:07to the most extreme environments.
0:58:07 > 0:58:08Feels good.
0:58:08 > 0:58:11And survive against incredible odds.
0:58:11 > 0:58:14Having an entire hemisphere of your brain removed
0:58:14 > 0:58:17is a pretty radical thing.
0:58:17 > 0:58:21It's a world full of extraordinary people.