Episode 6 Incredible Medicine: Dr Weston's Casebook


Episode 6

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Transcript


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We're discovering astonishing things about the human body all the time

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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

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are often revealed 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 and reveal

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how all of these cases are giving us a new understanding

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of the most amazing natural machine on the planet.

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The human body.

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Despite all the knowledge and technology we have at our disposal,

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medicine is still full of baffling cases.

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Cases that are difficult to diagnose, let alone treat or cure.

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In this programme, we'll discover...

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..why this man can taste words.

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How this woman's body attacked her brain.

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And how this little boy's rare illness was treated

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before he was even born.

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I'm going to discover how these remarkable people

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are challenging scientific thinking, and, sometimes,

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even changing the way we'll treat illness in the future.

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And I'm going to start with the astonishing case

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of a man who invented a new medical procedure

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in order to save his own life.

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Tal Golesworthy is an engineer.

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He has no medical training.

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But when he was told he needed life-changing heart surgery,

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he decided to take matters into his own hands.

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It was fear that drove me, simple as that.

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Tal was born with a condition called Marfan syndrome.

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His body is deficient in a protein called fibrillin

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which helps hold tissues together.

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This had a significant effect on how his body grew.

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I was always taller than everyone else. I could always reach

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the apples higher up the tree than everyone else.

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I could always climb over bigger walls than everyone else.

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But Tal's condition also affected his heart and vital blood vessels.

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In particular, his aorta,

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the artery that carries blood from the heart to the rest of the body.

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Tal's aorta was weak

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and could expand abnormally.

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It meant his artery might rupture at any moment...

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..putting his life at risk.

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Doctors told Tal his only option was major surgery -

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to remove his aorta and the valve that connects it to the heart,

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and replace them with a mechanical device.

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Essentially, they anaesthetise you,

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they open your chest,

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they then...

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literally, cut out your ascending aorta with your aortic valve.

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Stitch in the mechanical valve.

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Close you up. Put you on a ward.

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After the operation, Tal would face a lifetime of blood-thinning drugs

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to reduce the risk of blockage in the mechanical parts.

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I really did not want that, so, at that point, I just said,

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"I've just got to do something about this."

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In his professional life,

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Tal was no stranger to grappling with faulty mechanics.

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So, he decided to approach the problem

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as if it were an engineering project.

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My take on this was, "Well, OK, the pipe's bulging a bit

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"but everything is still working all right.

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"If I can put some sort of support around the outside of the pipe,

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"and stop the pipe getting bigger,

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"I can stabilise the situation and everything will be fine."

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Tal's idea was to make a special sleeve to fit around his aorta,

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to reinforce it and stop it expanding dangerously.

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In this way, he hoped he wouldn't need drastic surgery to replace it

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or a lifetime of medication.

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Tal had come up with a clever concept,

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but he needed to persuade the medical establishment

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that it could work

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and find a surgeon willing to perform the operation.

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Professor Tom Treasure is a cardiac surgeon

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at University College London.

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Tal first met him when he was giving a presentation on surgery

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for Marfan syndrome.

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When he finished, he asked for questions, so I just said,

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"Why aren't we imaging, modelling, CAD modelling,

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"rapid prototyping and making a perfectly fitting implant?"

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And he said, "I don't really understand that,

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"why don't we talk about it?" And that's where it all began.

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I was struck by the completely, sort of, out-of-the-loop idea -

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that it really was a totally different approach.

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Professor Treasure agreed to work with Tal on his proposal.

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Their first challenge was to create a sleeve that would fit.

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You've got to have the shape absolutely perfect,

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and it's different for every patient.

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They made accurate 3D scans of Tal's heart.

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These allowed them to design a lightweight, polyester mesh

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to fit perfectly around his aorta

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and reinforce the weakened artery.

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But there was only one way to find out if it would work.

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I was absolutely terrified

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because I knew what was coming.

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I'd stood in on at least a dozen aortic operations,

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so I knew exactly what was coming.

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In 2004, Tal became the first person to try out his own invention.

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I just think on the day, of course, we were apprehensive,

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but we had spent four years in the planning

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and we knew exactly what we were going to do,

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how it was to be achieved.

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So, this was just putting the pieces together.

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On the 24th of May, the long-awaited operation took place.

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Tal's invention was painstakingly fitted around his own aorta.

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I suppose, one might call it a seminal moment in one's life.

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It was a very...

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It was a very, very big moment.

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But only time would reveal if the operation had been a success.

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Five months later, a scan of Tal's aorta

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showed it working better than ever,

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thanks to his ingenious polyester sleeve.

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Because this was a soft and pliant mesh

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with pores big enough for the body

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to grow in and out of microscopically,

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this mesh became part of the aorta.

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So, the body took it into its own tissues

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and made a good strong aorta where there was a weak one before.

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Now, 13 years later,

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Tal's aorta is still working well and he doesn't need medication.

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And since his ground-breaking operation,

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others have undergone the same treatment.

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The first year, we did one.

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The second year, we did two.

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The third year, we did three or four.

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The fourth year, we did five or six.

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Until here we are, 12 years after the first operation,

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and we've done 22 this year.

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To me, as a surgeon, this is a truly inspiring story

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of a patient who refused to accept the status quo,

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and whose inventive mind and determination

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led to a medical advance that's now saving lives.

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As a surgeon, I can't help but be fascinated

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by a case that's solved by an ingenious new procedure like Tal's.

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But in recent years, a new kind of case altogether

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has emerged to become a driving force in medicine.

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These are some of the most extraordinary

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and mysterious I've uncovered.

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Cases where a person's body, indeed their whole life,

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is shaped by one tiny change

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in a single gene among the 20,000 we all possess.

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Nick Sireau isn't a doctor.

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But he IS on the brink of a medical breakthrough.

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I gave up my job to devote myself to finding a treatment

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for my children's ultra-rare genetic disease.

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Soon after they were married,

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Nick and his wife Sonya had their first child, Julien.

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After he was born, we noticed some red in his nappies.

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We were quite concerned that might be blood.

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So, we got some medical advice.

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So, next day, we went to see our GP

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who got a whole bunch of tests done at Great Ormond Street Hospital

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and it came back with a diagnosis

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of an ultra-rare disease called alkaptonuria.

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Alkaptonuria, also known as AKU,

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is a rare genetic condition

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affecting just four people in a million.

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An abnormality or mutation in a single gene

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causes the build-up in the body of a substance called homogentisic acid.

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It turns bones and cartilage black,

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as we see in this image of an elbow joint.

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With this colour change come harmful effects

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that usually emerge when a person is in their 20s or 30s.

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Over years, it accumulates.

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The cartilage starts to harden

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and becomes four times tougher than plastic.

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So, it's very damaging and the cartilage wears away

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and eventually the bone grinds against the bone,

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so the hips start to collapse,

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the knees start to have problems,

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and the elbows and the shoulders.

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But also, the heart valves start to calcify

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so people start to develop heart problems.

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In 1902, AKU was the very first disease

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to be identified as being passed down in families.

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Yet, over a hundred years since this discovery,

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there was still no effective treatment for it.

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So, when his second son, Daniel,

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was also born with the condition,

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Nick made it his mission to find a treatment

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before his sons reached adulthood.

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We thought we've got about 20 years

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to really develop a treatment, you know?

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20 years to develop

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a new medical treatment from scratch is a tough ask -

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even for the pharmaceutical industry.

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And Nick had no medical background.

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So, how on earth was he going to achieve his goal

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and stop AKU harming his children?

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Nick may have lacked medical knowledge,

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but his job was running charities,

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so one thing he did know was how to raise funds.

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At the beginning there was very little funding available for AKU.

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In fact, there was none.

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Nick joined and became leader of the AKU Society,

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a charitable foundation,

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and threw himself into raising money for research.

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So, I was running half marathons and things, raising funds.

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And in 2005, we paid for the autopsy of a patient

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who'd donated her body to science.

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And this was the first time

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there'd ever been an autopsy of a patient.

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One promising avenue was a drug called nitisinone.

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It was hoped it could stop the formation of homogentisic acid,

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the substance that damages bones and turns them black.

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But early research had been inconclusive,

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much more would be needed.

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The man leading research into the condition in the UK

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is Professor Lakshminarayan Ranganath,

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at the Royal Liverpool Hospital.

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He conducted a trial of nitisinone in mice,

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funded with the help of Nick Sireau.

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By trying nitisinone in the mouse,

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we were able to show that it decreases homogentisic acid

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in a very similar way by more than 95%.

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More importantly, we were able to show that if mice were given

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nitisinone from birth, they never got the pigment.

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And if mice were given nitisinone after a certain age,

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the pigment did not progress.

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The results of the mouse trial were extremely promising.

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But now, a clinical trial in humans was desperately needed.

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We realised we had to do our own clinical trial.

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And what was a very promising drug

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would end up languishing in obscurity

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and patients who'd been very hopeful that they'd have a treatment

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would be just devastated.

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Nick now gave up his job to devote himself full-time

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to raising funds for the research.

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To date, he and the AKU Society have amassed over £20 million.

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They're now conducting a series of clinical trials

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involving patients from across Europe and the Middle East.

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So, the data confirms that the two milligram of nitisinone

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we're using has decreased the homogentisic acid by 95%.

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I'm really pleased to say

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that all indications,

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after three years of using nitisinone

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in the National Treatment Centre,

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is that it's slowing down the disease. So, we're really hopeful.

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These trials are still ongoing,

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but since the initial signs are so promising,

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the NHS has given special permission

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for the drug to be used as a treatment for AKU.

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And the reason that the NHS does this for ultra-rare diseases

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is that it realises that it can be very difficult

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to put together the body of evidence needed

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to get approval for a rare-disease drug.

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13 years after he began, Nick's efforts have led

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to the country's first experimental treatment being available for AKU.

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His eldest son, Julien, is now 16,

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making him eligible for nitisinone treatment.

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We're going to be going to Liverpool in December

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where he will spend four days at the National Treatment Centre.

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Julien will have a whole range of tests - of MRI scans

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and x-rays and everything. And then, he'll be given access to the drug.

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This is a remarkable achievement.

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The drive and ingenuity of Nick Sireau,

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working with Professor Ranganath and his team,

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has pushed medical science to the point where, for the first time,

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there will likely be an effective treatment for AKU.

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I think it's very special that my dad has...

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gone through great lengths to help me and my brother.

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I feel proud and very thankful.

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As Nick's story shows,

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genetic conditions are often extremely difficult to treat.

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But they can offer scientists a rare opportunity.

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Understanding the unusual cases

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where something's gone wrong at the level of our DNA

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can help unravel the secrets of how all of our bodies

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are working normally.

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And that knowledge can be used to discover new treatments

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for all of us, as we'll see in our next intriguing case.

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My name is Pamela Costa and I'm a professor of psychology,

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and clinical psychologist, and I work at Tacoma Community College.

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To take Pam's classes,

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students must be prepared to endure the cold.

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Because she has an extraordinary response to warm temperatures.

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I feel like I'm on fire.

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Pam has a rare genetic disease

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called primary erythromelalgia or EM.

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If she gets even slightly too warm,

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her body reacts in an extreme way.

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The symptoms are pretty much...

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on fire, pain, relentless, unremitting,

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as if your feet, especially,

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your legs, and in my case, my hands and my face,

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are in an incinerator 24 hours a day...

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..that you cannot escape from

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in any way, shape or form.

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Even when Pam experiences temperatures

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that would be mild to most of us...

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..she feels like she's in the middle of fire.

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The pain is always there. And so, it's kind of

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this in-the-background noise, if you will.

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And the daily activity that would exacerbate the pain would be

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if it's above 65 degrees.

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To live with the condition,

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Pam has to be in complete control of her surroundings.

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We put in porcelain, the coolest floor possible.

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Every room, every piece of clothing, is geared towards one goal,

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avoiding heat - even at the coldest times of year.

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These are her winter shoes.

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I get cold, my feet get cold, my body gets cold,

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but I'd rather have the bitter coldness

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than the burning, fiery pain.

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It's kind of choose one or the other.

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Pam's condition is an extreme form

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of what is known as neuropathic pain.

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This is pain that originates at the extremities of the nervous system,

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the hands, arms and feet in particular.

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For years, nobody could explain why Pam's body

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was having such an extreme reaction

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to temperatures that were only mildly warm.

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Then, in 2004, a discovery was made

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that looked like it might not just be able to provide the answer,

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but also potentially be of benefit to the millions

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of other people suffering from chronic pain.

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My name is Stephen Waxman,

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I am a professor of neurology at Yale University

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and the Veterans Administration Hospital in West Haven, Connecticut.

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Professor Waxman and his team made a ground-breaking discovery

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about how we feel pain.

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Electrical impulses travel from wherever pain occurs in our body

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along our nerve fibres to the brain.

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Waxman's research revealed how this process is controlled

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by specialised molecules called sodium channels.

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The way a sodium channel works - it's like a gate that opens.

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So, if you were to touch a nail

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or if somebody were to take a match and put it next to your finger,

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your peripheral pain-signalling neurons

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would sense that noxious stimulus

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and the sodium channels would open

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and that would cause nerve impulses to be generated

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and, in the brain, you would recognise - this hurts,

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it's a painful stimulus, and, hopefully,

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that would trigger a protective response, withdrawal of the limb.

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But Waxman and his team observed that people with EM

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had a genetic mutation that caused a malfunction

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in one particular type of sodium channel.

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What we learned is that the EM mutant channels

0:22:290:22:33

cause pain signalling nerve cells to scream - brrrr! -

0:22:330:22:37

when they should be whispering - bup, bup, bup...

0:22:370:22:41

And so when they should be sending a message saying,

0:22:410:22:43

"I'm slightly warm", they're sending a signal saying, "I've been burnt".

0:22:430:22:47

To understand how the faulty sodium channels

0:22:500:22:53

were amplifying the pain signals,

0:22:530:22:55

Professor Waxman needed to study the DNA

0:22:550:22:58

of as many sufferers of EM as possible.

0:22:580:23:02

His work brought him into contact with Pam Costa and her family

0:23:020:23:06

who were involved with the Erythromelalgia Association.

0:23:060:23:10

They gave him a grant to continue his research

0:23:120:23:14

and also connected him to lots more people with EM.

0:23:140:23:18

With access to more patients and, therefore, more DNA,

0:23:180:23:22

Professor Waxman and others

0:23:220:23:24

eventually discovered more than a dozen different mutations,

0:23:240:23:28

all of which can result in EM.

0:23:280:23:30

Finally, Professor Waxman had identified

0:23:320:23:35

the cause and mechanism of EM.

0:23:350:23:37

A set of genetic mutations,

0:23:380:23:41

any one of which could cause a malfunction

0:23:410:23:43

in one particular type of sodium channel called Nav1.7

0:23:430:23:49

and it cast new light on our understanding

0:23:490:23:52

of how all of us feel pain.

0:23:520:23:54

One thing we know for sure from people with EM is that Nav1.7

0:23:560:24:02

is a key participant in the generation of human pain.

0:24:020:24:06

Not only in people with EM,

0:24:060:24:08

but in people with other neuropathic pain conditions.

0:24:080:24:13

Shingles pain, pain from diabetic neuropathy,

0:24:130:24:17

pain associated with traumatic nerve injury,

0:24:170:24:20

traumatic limb amputation

0:24:200:24:22

where the nerves are actually severed.

0:24:220:24:24

The hope is that having learned that Nav1.7 plays such a crucial role

0:24:240:24:29

in pain, drugs can be developed that inhibit its activity

0:24:290:24:34

that will be useful in relieving pain in all of these conditions.

0:24:340:24:39

And in this respect,

0:24:390:24:40

the first small clinical studies are being done right now

0:24:400:24:44

and the hints that are coming from these studies, and they're hints,

0:24:440:24:48

is that the approach may well provide a new approach

0:24:480:24:51

to treatment of chronic neuropathic pain.

0:24:510:24:55

Waxman's work on erythromelalgia may well herald a new era

0:24:570:25:00

of painkilling drugs for all of us.

0:25:000:25:04

Really nice colonies.

0:25:040:25:05

Cancer and mental illness...

0:25:050:25:08

And Pam Costa now has reason to be optimistic about the future.

0:25:080:25:13

My grand vision and hope for the future

0:25:130:25:18

of erythromelalgia is a cure.

0:25:180:25:21

I'd be happy for a reduce...

0:25:210:25:23

Ideally, in my fantasy, I eradicate the chronic pain

0:25:230:25:27

caused by this disease.

0:25:270:25:29

My hope would be that children would never have to suffer

0:25:290:25:34

from this intractable...

0:25:340:25:36

pain ever, ever again.

0:25:360:25:39

From Pam's rare condition has come a new understanding

0:25:400:25:44

of how all our bodies work.

0:25:440:25:47

For diseases that are caused by faulty genes,

0:25:530:25:56

the Holy Grail is finding a way

0:25:560:25:59

to try and rewrite the genetic code to change the DNA.

0:25:590:26:04

At the frontier of this are stem cells.

0:26:040:26:07

Now, these cells have yet to become a specific tissue.

0:26:070:26:11

They might end up being bone,

0:26:110:26:13

blood or brain tissue, but they're not YET.

0:26:130:26:16

We were all once a ball of embryonic cells

0:26:160:26:20

and from this blank slate,

0:26:200:26:22

all the different tissues of the body develop.

0:26:220:26:25

We know now that stem cells persist right into adulthood

0:26:260:26:30

all over the body.

0:26:300:26:31

They're there in the bone marrow,

0:26:310:26:33

the brain, the heart, the muscle, the gut, the skin.

0:26:330:26:37

In fact, there are lots of these little cells

0:26:370:26:39

all over our bodies that don't yet have an identity.

0:26:390:26:43

They're one of the most amazing discoveries of modern medicine

0:26:430:26:47

and there is one truly extraordinary case that reveals why.

0:26:470:26:52

This is the King family.

0:26:560:26:58

The youngest member is two-year-old Adam.

0:26:580:27:01

He is a boisterous, lively toddler,

0:27:010:27:05

but he was born with a rare condition

0:27:050:27:07

that can make bones so fragile

0:27:070:27:09

that even breathing is dangerous.

0:27:090:27:12

When we brought Adam home from the hospital,

0:27:140:27:16

it was a hugely different experience for us

0:27:160:27:18

in comparison to bringing our other three children home from hospital.

0:27:180:27:23

All of Adam's care needs had to be carefully planned and calculated

0:27:230:27:26

to ensure that we didn't fracture any bones

0:27:260:27:29

while we were doing normal tasks

0:27:290:27:31

like dressing him and changing his nappy.

0:27:310:27:33

That just felt so strange because when you've had the new baby,

0:27:330:27:37

-all you want to do is just hold him.

-Hm.

0:27:370:27:40

Oh, sorry...

0:27:400:27:42

SHE EXHALES

0:27:440:27:46

When Fiona was 18 weeks pregnant,

0:27:510:27:53

a routine ultrasound scan revealed something unusual about Adam's legs.

0:27:530:27:59

The radiographer discovered that the femurs were too short,

0:28:010:28:04

they were about three weeks behind on growth.

0:28:040:28:06

It kind of looked like, for all intents and purposes,

0:28:080:28:10

like a little lightning bolt

0:28:100:28:11

which suggested that there were fractures as he was growing.

0:28:110:28:16

Their unborn baby was diagnosed with a rare bone condition

0:28:200:28:24

called osteogenesis imperfecta,

0:28:240:28:26

also known as brittle bone disease.

0:28:260:28:29

The couple were told to expect their baby

0:28:300:28:33

to struggle immediately after being born.

0:28:330:28:35

We had to prepare for Adam not being able to breathe when he was born,

0:28:350:28:39

because, obviously, the brittle bones affect all of the bones,

0:28:390:28:42

including the bones of the ribcage,

0:28:420:28:44

so we didn't know how functional his ribcage would be.

0:28:440:28:47

So, we were, I suppose, the first case,

0:28:470:28:49

the option we were presented with was termination.

0:28:490:28:51

That wasn't an option for us.

0:28:510:28:52

Our next option would be just to continue with the pregnancy

0:28:520:28:56

and have it monitored.

0:28:560:28:58

The prognosis for David and Fiona's unborn baby looked bleak.

0:29:030:29:09

It was clear from the ultrasound scan

0:29:090:29:12

that he had a severe form of the disease

0:29:120:29:15

with his bones already breaking within the womb.

0:29:150:29:19

But then they were given a third option,

0:29:190:29:21

an experimental treatment

0:29:210:29:23

that might just treat his disease

0:29:230:29:26

even before he was born.

0:29:260:29:28

Fiona and David were put in contact with Dr Cecilia Gotherstrom

0:29:320:29:37

at the Karolinska Institute in Sweden.

0:29:370:29:39

She had been investigating a cutting-edge treatment

0:29:390:29:42

for brittle bone disease.

0:29:420:29:44

People with brittle bone disease,

0:29:450:29:47

they have one single difference in a specific gene -

0:29:470:29:52

the codes for a protein that builds the bones.

0:29:520:29:56

And this protein,

0:29:560:29:57

the most common mutation is in a protein called collagen.

0:29:570:30:02

Collagen is the substance that gives our bones strength.

0:30:050:30:09

Without it, they become extremely brittle.

0:30:090:30:12

Highly prone to breaks and fractures.

0:30:120:30:15

It's especially important for a growing foetus,

0:30:150:30:18

as, without collagen, the skeleton won't form properly.

0:30:180:30:22

So, Dr Gotherstrom came up with a bold idea -

0:30:240:30:27

to treat the condition while the foetus was still in the womb.

0:30:270:30:32

What she wanted to do

0:30:350:30:37

was to inject stem cells

0:30:370:30:40

into Fiona's womb,

0:30:400:30:42

and into the unborn baby.

0:30:420:30:44

Stem cells are cells which haven't decided yet

0:30:440:30:48

what tissue they're going to become.

0:30:480:30:51

And so, the idea is if you give stem cells

0:30:510:30:54

in a particular condition,

0:30:540:30:56

those undecided cells will know where they're needed

0:30:560:31:00

and they will develop into the tissue that they NEED to be.

0:31:000:31:04

If we give stem cells before birth,

0:31:040:31:09

we think that they would find their way to all tissues,

0:31:090:31:13

and stay there and help build better tissues and better bones.

0:31:130:31:17

The hope is that the stem cells will control the disease

0:31:180:31:21

by growing into bone cells that can produce healthy collagen.

0:31:210:31:26

Fiona and David travelled to Sweden for the procedure.

0:31:280:31:31

Their baby was sedated inside Fiona's womb.

0:31:310:31:36

And the new stem cells injected into his bloodstream.

0:31:360:31:39

Fiona and David then faced an agonising wait.

0:31:410:31:45

They'd only know how effective the treatment had been

0:31:450:31:48

once Adam was born.

0:31:480:31:49

The birth required a huge amount of psychological

0:31:520:31:55

and emotional preparation.

0:31:550:31:57

-It was like preparing for a hurricane you know is coming.

-Mmm.

0:31:570:32:03

We were prepared for the fact that when Adam was born

0:32:030:32:06

that he may not cry at all,

0:32:060:32:08

that he would be brought immediately to be resuscitated.

0:32:080:32:11

So, thankfully, when Adam entered the world, he was crying,

0:32:110:32:16

and it was fantastic to hear.

0:32:160:32:18

Adam's crying was a clear sign that the treatment had been a success.

0:32:200:32:25

So, we were expecting Adam to be approximately a 4 lb baby.

0:32:270:32:32

So, when he was born, he was 5 lbs 11 oz,

0:32:320:32:36

which was astounding. We couldn't believe the chubby cheeks.

0:32:360:32:39

But his brittle bones and fractures in the womb

0:32:420:32:44

had left their mark on Adam -

0:32:440:32:46

particularly in his legs.

0:32:460:32:48

The only way I could describe his legs...

0:32:510:32:53

His legs were so deformed and so swollen,

0:32:530:32:56

they looked like bananas.

0:32:560:32:57

They were curved in like this.

0:32:570:32:59

But since those early days, Adam's progress has been remarkable.

0:33:010:33:06

HE GURGLES

0:33:120:33:15

He can do so many things

0:33:150:33:16

that we never thought he would be able to do.

0:33:160:33:19

With all the activities that he does,

0:33:220:33:24

he's actually been able to straighten his own legs a lot.

0:33:240:33:27

They're still a bit bowed, aren't they?

0:33:270:33:29

But, like, he's so... They're so strong.

0:33:290:33:33

In comparison to other children with severe types of OI,

0:33:330:33:36

he's doing very well.

0:33:360:33:38

I do believe that Adam's remarkable progress

0:33:390:33:43

is due to the transplanted stem cells.

0:33:430:33:46

Next year, Dr Gotherstrom will begin an ambitious clinical trial

0:33:470:33:51

funded by the European Union,

0:33:510:33:53

involving 30 babies with brittle bone disease.

0:33:530:33:57

The hope is that the technique will open up new possibilities

0:33:570:34:01

in treating illness before a baby is born.

0:34:010:34:04

He is really hardy.

0:34:070:34:08

We have four children, and of all four of our children,

0:34:080:34:11

there are varying levels of crazy.

0:34:110:34:13

And he is at the most extreme end of crazy!

0:34:130:34:17

-He loves the craic, basically!

-Mmm.

0:34:170:34:19

Stem-cell research is one of the major new frontiers in medicine.

0:34:260:34:31

Unlocking some of the most enduring mysteries of the human body,

0:34:310:34:35

and enabling us to treat diseases that we once thought were incurable.

0:34:350:34:40

And our next case is one of the most remarkable I've come across.

0:34:410:34:45

This is Stephen Storey.

0:34:570:34:59

He's about to take a scuba-diving exam.

0:35:010:35:04

I've scuba-dived all over the world for 20 years,

0:35:050:35:08

and that's been one of my big passions.

0:35:080:35:11

But just a few years ago, this would have been impossible.

0:35:110:35:14

Stephen, in 2013,

0:35:180:35:21

experienced a terrifying moment

0:35:210:35:24

where he went from being a highly active, energetic person

0:35:240:35:29

to somebody who suddenly completely collapsed.

0:35:290:35:33

The word I've used to describe it is I just "melted".

0:35:340:35:37

My strength just dissipated and I slumped onto the floor.

0:35:370:35:40

That was the moment when I realised something was wrong.

0:35:400:35:43

Within three days, Stephen was diagnosed with multiple sclerosis.

0:35:460:35:51

It's a condition in which a person's own immune system

0:35:510:35:54

can attack their brain or spinal cord,

0:35:540:35:57

and it can have many different symptoms.

0:35:570:36:00

Patients with MS never know

0:36:020:36:03

what part of their function will be struck next.

0:36:030:36:07

It can affect both brain and body.

0:36:080:36:11

Within nine months of a diagnosis,

0:36:140:36:16

I was confined permanently to the wheelchair.

0:36:160:36:19

So, I couldn't stand, I couldn't walk.

0:36:190:36:22

I was finding it difficult to get out of bed.

0:36:220:36:24

Difficult to look after myself.

0:36:240:36:26

From being a marathon runner,

0:36:260:36:28

within 18 months, paralysed, in hospital, 24-hour care.

0:36:280:36:33

Which is a pretty dramatic decline.

0:36:330:36:36

Stephen has gone from being confined to a wheelchair

0:36:380:36:42

to being an active man who can scuba dive.

0:36:420:36:45

But multiple sclerosis is a degenerative and incurable disease.

0:36:450:36:50

So, how is this possible?

0:36:500:36:52

This is Basil Sharrack,

0:36:540:36:55

a consultant neurologist

0:36:550:36:57

at the Royal Hallamshire Hospital in Sheffield.

0:36:570:37:00

Knowing that MS is caused by a faulty immune system,

0:37:020:37:06

Professor Sharrack had a bold idea.

0:37:060:37:09

To destroy it completely.

0:37:090:37:12

The best way, probably, to treat this condition

0:37:120:37:14

is to replace the faulty system with a new one which is unaffected.

0:37:140:37:19

His plan was then to replace it

0:37:200:37:21

using a method developed to treat certain forms of cancer,

0:37:210:37:26

which involve stem cells.

0:37:260:37:27

This would be a complex and risky process.

0:37:300:37:34

First, Professor Sharrack's team had to collect or harvest

0:37:340:37:38

healthy stem cells from Stephen's own blood and bone marrow.

0:37:380:37:42

Next, they used a high dose of chemotherapy

0:37:440:37:47

to destroy his existing bone marrow -

0:37:470:37:50

a part of the body where key cells of the immune system are made.

0:37:500:37:54

Finally, they reintroduced the healthy stem cells

0:37:570:38:01

into Stephen's body.

0:38:010:38:03

We give the healthy stem cells,

0:38:030:38:05

which we had already harvested, back into the patient.

0:38:050:38:09

And these stem cells will start a fresh new system,

0:38:090:38:11

which is healthy and unaffected.

0:38:110:38:14

The signs are that if patients are given this treatment,

0:38:140:38:18

the stem cells will build a new, healthy immune system.

0:38:180:38:21

Just over a week after his treatment,

0:38:230:38:25

Stephen began to regain movement he had lost.

0:38:250:38:29

Nine days after the treatment,

0:38:300:38:33

I could consciously choose to wiggle a toe.

0:38:330:38:37

It wasn't a spasm.

0:38:370:38:40

It wasn't a...

0:38:400:38:41

sort of reaction to something.

0:38:410:38:44

I consciously thought to myself to move a toe, and it moved.

0:38:440:38:47

At that moment, I could feel my body was starting to recover.

0:38:470:38:51

At that moment, it made me realise

0:38:510:38:53

that this was going to be an incredible journey.

0:38:530:38:56

As the treatment is still being trialled,

0:38:590:39:01

Stephen is monitored regularly.

0:39:010:39:03

Today, he's meeting Professor Sharrack and Professor Snowden

0:39:050:39:09

for the results of his latest scan.

0:39:090:39:10

-Hello.

-Good to see you again, Basil. Hello, John. How are you, sir?

0:39:100:39:13

-How are you?

-Come, make yourself comfortable.

-Thank you very much.

0:39:130:39:16

So, Stephen, let me just show you the scan.

0:39:160:39:19

So, I'm going to show you, first,

0:39:190:39:20

the scan that you had, initially, before the treatment.

0:39:200:39:23

So, on that scan, the MS lesions, they look white in colour.

0:39:230:39:27

The areas which are white in colour

0:39:270:39:29

are areas of active inflammation,

0:39:290:39:31

and there's a lot of them, really affecting the whole of the brain.

0:39:310:39:36

So, this is the scan from today.

0:39:360:39:39

And we are looking for active lesions, white areas.

0:39:390:39:43

-Wow.

-And we see none.

0:39:430:39:45

So, this is very pleasing.

0:39:460:39:48

Wow. I'm blown away.

0:39:480:39:50

That is absolutely phenomenal.

0:39:500:39:53

Stem-cell research is in its infancy,

0:39:550:39:59

in the sense that it's being tried for all sorts of conditions.

0:39:590:40:03

But for MS, it's incredibly exciting.

0:40:030:40:07

Stephen's case strongly suggests that taking stem cells,

0:40:070:40:11

replacing a faulty immune system with a new one,

0:40:110:40:14

can have an incredible effect,

0:40:140:40:16

not just in halting the progress of this disease,

0:40:160:40:19

but actually reversing it.

0:40:190:40:20

Today, Stephen is back in his scuba gear.

0:40:240:40:27

Under the critical observation of an instructor...

0:40:290:40:33

..he hopes to regain his previous diving credentials.

0:40:340:40:38

He's waited over two years for this moment.

0:40:410:40:43

-How do you think you got on, mate?

-Wow!

0:40:480:40:50

I can't begin to explain how amazing that was.

0:40:500:40:53

Good news is... Give me a high five. You've just reactivated.

0:40:530:40:55

-Well done, mate.

-Really? Wahey!

-Well done.

0:40:550:40:57

Absolutely brilliant, fantastic.

0:40:570:40:59

Wow, that means so much, Louise.

0:40:590:41:00

-Well done, you did really well there.

-Really? Really?!

-Awesome.

0:41:000:41:03

From the condition I was in,

0:41:040:41:06

unable to move, to get myself out of bed,

0:41:060:41:10

to be fed with a spoon,

0:41:100:41:12

taken to the toilet, to now,

0:41:120:41:14

literally two years to this month later,

0:41:140:41:16

being able to scuba dive again...

0:41:160:41:18

It's just joyous.

0:41:190:41:21

Every day's an adventure, and today's been one of the best.

0:41:240:41:28

Um...

0:41:280:41:29

Cycling and swimming and all those things are incredible,

0:41:290:41:32

but this is something I've had a passion for for years in my life.

0:41:320:41:36

And being able to do it again is just...

0:41:360:41:39

transformational.

0:41:390:41:40

To me, this story represents

0:41:530:41:55

one of the great achievements of modern medicine.

0:41:550:41:58

Bringing decades of knowledge

0:41:580:42:00

from the fields of cancer and surgery together

0:42:000:42:03

with the emerging field of stem cells to treat a disease

0:42:030:42:07

long thought to be incurable.

0:42:070:42:10

But for all this new knowledge and expertise,

0:42:100:42:13

there's one vital part of the body whose mysteries

0:42:130:42:16

we've still barely begun to crack.

0:42:160:42:19

Even in this age of cutting-edge modern medicine,

0:42:230:42:27

there's a huge amount we just still don't understand about the brain.

0:42:270:42:31

Thanks to advances in imaging technology,

0:42:310:42:34

anatomists have discovered

0:42:340:42:36

nearly 100 new brain regions in the last year.

0:42:360:42:39

And we know that the brain is made up of 100 billion nerve cells,

0:42:390:42:43

or neurons, arranged like wires in a vast telephone exchange.

0:42:430:42:48

What we're no nearer to understanding

0:42:480:42:51

is how this chemical and electrical system

0:42:510:42:55

produces intelligence, consciousness or creativity.

0:42:550:43:00

And, often, it's when something completely unexpected

0:43:000:43:03

goes wrong with the brain, that we learn something new.

0:43:030:43:07

This is James Wannerton.

0:43:130:43:15

Today, he's sightseeing in the German city of Bonn...

0:43:150:43:19

..something he experiences in a very different way from most of us.

0:43:220:43:26

Glucose and white chocolate.

0:43:290:43:30

Potato wedges.

0:43:320:43:33

Chocolate digestives.

0:43:370:43:38

Madeira cake.

0:43:430:43:44

It may seem like James is obsessed with food.

0:43:440:43:49

Soggy, vinegary chips.

0:43:490:43:50

But, in fact, this is how James perceives

0:43:500:43:53

the street names he's reading.

0:43:530:43:55

I can taste words.

0:44:000:44:01

James has a condition called synaesthesia.

0:44:030:44:06

This is where one of our senses triggers a sensation in another.

0:44:080:44:13

When James sees or hears words,

0:44:130:44:16

he experiences a taste.

0:44:160:44:18

It's like a little eye dropper of food,

0:44:200:44:22

I suppose, would be the best of describing it.

0:44:220:44:23

Dink, dink, dink. Constant drip.

0:44:230:44:25

Ever since I was young,

0:44:250:44:27

I navigated by taste.

0:44:270:44:28

I've learnt the city layout,

0:44:280:44:31

where I live,

0:44:310:44:32

my way to school,

0:44:320:44:34

I learnt it all by a sequence of tastes.

0:44:340:44:36

Every single word has a signature flavour -

0:44:390:44:42

even names -

0:44:420:44:44

and that deeply affects his relationships with other people.

0:44:440:44:48

My friends' names. They all follow the pattern.

0:44:490:44:51

They're all very nice, tasty names.

0:44:510:44:54

I've had plenty of friends called Robert.

0:44:540:44:56

Tastes of strawberry jam sandwiches, for some peculiar reason.

0:44:560:45:01

I would never have a friend called Alan

0:45:010:45:03

because it gives me the taste and texture of dried mucus,

0:45:030:45:06

would you believe.

0:45:060:45:08

There are various forms of synaesthesia.

0:45:100:45:13

All of which involve an unusual interaction between the senses.

0:45:130:45:18

Some people see colours when they read certain letters or words,

0:45:180:45:22

or hear particular sounds.

0:45:220:45:24

But James's version,

0:45:240:45:26

the ability to taste words,

0:45:260:45:28

does seem very bizarre.

0:45:280:45:30

Jamie Ward is professor of cognitive neuroscience

0:45:370:45:40

at the University of Sussex.

0:45:400:45:42

He took MRI scans of James's brain

0:45:420:45:45

to find out what could possibly explain his strange sensations.

0:45:450:45:50

We took words that have particular flavours for him.

0:45:510:45:55

So, we take words that are very intense,

0:45:550:45:57

or words that produce flavours that are horrible,

0:45:570:46:00

or words that produce flavours that are quite weak and neutral.

0:46:000:46:03

When he compared James's brain scans to an ordinary person,

0:46:050:46:09

he saw something remarkable.

0:46:090:46:10

When you or I hear a word,

0:46:140:46:15

a part of the brain called the auditory cortex activates.

0:46:150:46:19

And we understand the meaning of that word using the temporal lobes.

0:46:220:46:25

But that's not all that happens in James's brain.

0:46:260:46:29

Another part that is involved in taste and emotion also activates.

0:46:290:46:33

And a third area lights up that's involved in how we process images.

0:46:350:46:40

So, there's a lot more activity in James's brain.

0:46:400:46:43

This suggests synaesthesia is physical

0:46:450:46:48

and rooted in how the brain is wired.

0:46:480:46:51

So, not only do they have these unusual experiences,

0:46:530:46:56

they actually think differently. They think in images.

0:46:560:46:58

They also seem to have better memory.

0:46:580:47:01

And this might be that they can use their synaesthesia

0:47:010:47:03

to help them to remember.

0:47:030:47:05

But it also seems to be the case that their brain is predisposed

0:47:050:47:08

to form these better connections,

0:47:080:47:10

and hold on to information in a way that other people don't.

0:47:100:47:13

As scientists discover more about synaesthesia,

0:47:170:47:20

they're beginning to use that knowledge

0:47:200:47:22

to help people with sensory impairments.

0:47:220:47:24

People like Daniel.

0:47:260:47:28

He's blind.

0:47:280:47:29

But work being done by Jamie and his team

0:47:300:47:33

is allowing him to build up a picture

0:47:330:47:35

of the world using a different sense altogether.

0:47:350:47:38

So for example, people who don't have vision,

0:47:400:47:42

we might be able to express the visual world to them using sounds.

0:47:420:47:47

As Daniel moves,

0:47:470:47:48

a camera detects the structure and position of nearby objects

0:47:480:47:52

in three dimensions.

0:47:520:47:54

This information is converted into sounds.

0:47:540:47:58

He's going from left to right.

0:47:580:47:59

-Now walking towards me.

-HIGH-FREQUENCY TONES

0:47:590:48:02

Changes in volume and pitch correspond to how near or far...

0:48:020:48:06

Going back. Further away.

0:48:060:48:08

..an object is.

0:48:080:48:10

Closer again.

0:48:100:48:11

Different instruments also indicate colour.

0:48:110:48:15

There is a clear distinction between red or green, blue.

0:48:150:48:19

DIFFERENT TONES PLAY

0:48:190:48:21

So, the first sound I can hear on my left is...

0:48:230:48:28

RESONANT TONE

0:48:280:48:29

..a deeper cello sound?

0:48:290:48:32

And I know that this is associated with a blue colour.

0:48:320:48:37

-Then the next one up...

-HIGH-PITCHED TINK

0:48:370:48:40

..is a really high-pitched violin sound.

0:48:400:48:45

So, that should be a yellow.

0:48:450:48:48

To some extent, we can think of blind people training themselves

0:48:480:48:51

to be synaesthetes,

0:48:510:48:53

so far as they're taking something that is purely auditory,

0:48:530:48:57

and they're using visual parts of their brain

0:48:570:48:59

to process this auditory stimuli.

0:48:590:49:01

The inspiration for this technology comes from people like James

0:49:040:49:08

and their amazing ability to combine the senses.

0:49:080:49:12

Madeira cake.

0:49:120:49:14

It's a major part of my life.

0:49:140:49:16

It feels very natural and normal to me.

0:49:160:49:19

If I had it taken away, I couldn't remember anything.

0:49:190:49:23

Chocolate digestives.

0:49:240:49:27

Through cases like James's,

0:49:330:49:35

we're learning more about how the different parts of our brain

0:49:350:49:39

connect and interact

0:49:390:49:40

to give us our understanding of the world around us.

0:49:400:49:44

But the brain doesn't always give up its secrets so easily.

0:49:450:49:50

In our final, remarkable story,

0:49:500:49:52

we'll meet a family whose quest for answers

0:49:520:49:55

revealed a new understanding of how our brain works,

0:49:550:49:59

what can go wrong with it, and how we can treat it.

0:49:590:50:03

My name is Emily Gavigan

0:50:070:50:09

and my body attacked my brain.

0:50:090:50:11

I was home for winter break,

0:50:160:50:19

and I had gone to a coffee shop with some of my friends.

0:50:190:50:22

And I was leaving the coffee shop,

0:50:220:50:24

and I was very suddenly manic and paranoid

0:50:240:50:27

that these trucks were following me.

0:50:270:50:30

This paranoid episode wasn't unique.

0:50:320:50:35

In the months before,

0:50:360:50:38

Emily's parents, Bill and Grace,

0:50:380:50:40

had noticed a change in her personality.

0:50:400:50:43

She became really just a different person.

0:50:430:50:48

We actually thought that possibly she was,

0:50:500:50:53

she had gotten into, maybe, drugs.

0:50:530:50:56

We took her to a doctor,

0:50:580:51:00

and they started to treat her

0:51:000:51:01

as though she had a psychiatric illness,

0:51:010:51:04

especially because of the paranoia,

0:51:040:51:07

the aggressive behaviour.

0:51:070:51:09

A psychiatrist prescribed Emily a series of mood-stabilising drugs.

0:51:110:51:16

But nothing seemed to help.

0:51:170:51:18

She was eventually admitted to a psychiatric hospital.

0:51:200:51:23

During that stay in the hospital,

0:51:260:51:27

they were leaning toward the diagnosis of schizophrenia.

0:51:270:51:31

They told us that she would not be able to work again.

0:51:310:51:35

They said that she would not be able to function normally.

0:51:350:51:38

But Emily soon started to show symptoms

0:51:410:51:43

that just didn't fit with schizophrenia.

0:51:430:51:46

My mom and I were headed to the pharmacy to pick up some medication.

0:51:480:51:51

We got out of the car to go into the pharmacy, and I couldn't walk.

0:51:510:51:56

Emily was rushed to hospital.

0:51:560:51:59

Doctors suspected something was causing inflammation in her brain,

0:51:590:52:03

and changed her medication.

0:52:030:52:05

But she had a severe reaction to the new drugs.

0:52:050:52:08

She was in critical condition.

0:52:120:52:14

I asked the neurologist to come back into the room to re-examine Emily,

0:52:140:52:20

to really look at her.

0:52:200:52:22

And Grace asked him if he thought, you know, Emily would die.

0:52:220:52:28

He couldn't say that she might not during the night.

0:52:290:52:32

Desperate for answers, Bill had been reading everything he could find

0:52:340:52:38

that might bring a clue to what was happening to Emily.

0:52:380:52:41

And he'd read a report

0:52:410:52:42

of a young woman with similar symptoms to Emily,

0:52:420:52:46

who was also diagnosed with mental health issues.

0:52:460:52:50

But, in fact, something else completely was going on.

0:52:500:52:55

Her own immune system was attacking her brain.

0:52:550:52:58

So, after they took Emily to the intensive care unit,

0:52:590:53:04

I stayed behind and I asked the neurologist to stay behind,

0:53:040:53:08

and I handed him the article

0:53:080:53:09

that had been written in the New York Post.

0:53:090:53:12

And I insisted that he read the article

0:53:120:53:14

while he was standing in front of me.

0:53:140:53:18

Emily was immediately airlifted

0:53:190:53:21

to the hospital of the University of Pennsylvania.

0:53:210:53:24

This was where the patient Bill had read about had been diagnosed.

0:53:260:53:29

Dr Maria Chen was a neurologist on Emily's team.

0:53:320:53:36

When Emily arrived at Penn Medicine,

0:53:380:53:40

she was in a critically ill state

0:53:400:53:43

as a result of seizures

0:53:430:53:44

and a blood clot that she sustained.

0:53:440:53:47

The doctors immediately suspected

0:53:490:53:51

that Emily had the same condition they'd diagnosed before.

0:53:510:53:55

A rare autoimmune condition

0:53:550:53:58

called NMDA, receptor antibody encephalitis.

0:53:580:54:03

NMDA, receptor antibody encephalitis is a condition

0:54:030:54:06

where your body's immune system

0:54:060:54:08

generates antibodies that inadvertently target

0:54:080:54:12

your body's brain and cause dysfunction.

0:54:120:54:14

NMDA receptors are situated in the part of the brain

0:54:140:54:18

that's important for learning and memory.

0:54:180:54:21

Tests for the condition came back positive.

0:54:240:54:27

Emily and her parents finally had a diagnosis.

0:54:270:54:31

So, Emily was not thinking correctly

0:54:330:54:36

because if this receptor is not engaged and working properly,

0:54:360:54:41

you can have paranoid thoughts.

0:54:410:54:43

You can have inaccurate memories.

0:54:430:54:45

Emily started a new course of treatment

0:54:470:54:49

to suppress her immune system and remove the antibodies

0:54:490:54:53

that were attacking her brain.

0:54:530:54:55

And she began to recover.

0:54:550:54:57

I look like...

0:54:580:55:01

mess.

0:55:010:55:03

-You look like?

-A mess.

0:55:030:55:05

No, you don't! I think you look pretty good.

0:55:050:55:08

SHE LAUGHS

0:55:080:55:10

I had to relearn everything from how to brush my teeth,

0:55:100:55:15

how to feed myself,

0:55:150:55:17

how to tie my shoes,

0:55:170:55:19

that kind of basic stuff

0:55:190:55:21

that you don't think about any day.

0:55:210:55:24

Thanks to her father's persistence,

0:55:270:55:30

Emily eventually received the right treatment and made a full recovery.

0:55:300:55:35

But, to me, the end of Emily's story

0:55:350:55:38

is just the beginning of a new chapter

0:55:380:55:40

in our understanding of how the brain and the body

0:55:400:55:44

affect each other, causing symptoms that, even today,

0:55:440:55:48

can be difficult to diagnose.

0:55:480:55:50

Professor Belinda Lennox

0:55:520:55:54

is a psychiatrist at the University of Oxford.

0:55:540:55:58

In mental health, in psychiatry,

0:55:580:55:59

we diagnose people based on the symptoms that they describe to us.

0:55:590:56:03

We have no blood tests. We have no investigations.

0:56:030:56:06

We have no diagnostic tools

0:56:060:56:08

for the serious mental illness

0:56:080:56:10

that I see as part of everyday clinical practice.

0:56:100:56:13

Professor Lennox suspects that some people who are thought to have

0:56:160:56:19

certain severe mental illnesses

0:56:190:56:21

may actually have conditions similar to Emily.

0:56:210:56:24

To find out, she and her team

0:56:260:56:28

screened more than 200 patients across England.

0:56:280:56:32

Almost 10% of them either carried

0:56:320:56:35

the antibody against NMDA,

0:56:350:56:37

or one similar.

0:56:370:56:39

Over the last few years,

0:56:390:56:41

we have been treating people with schizophrenia

0:56:410:56:44

who have been found to have these antibodies,

0:56:440:56:46

with immune therapy,

0:56:460:56:48

alongside their standard psychiatric treatment.

0:56:480:56:52

In our experience, people do get better.

0:56:520:56:55

The results so far are very encouraging.

0:56:590:57:02

And Professor Lennox is about to start a trial

0:57:030:57:06

that will compare the effects of immunotherapy

0:57:060:57:09

against placebo in treating psychosis.

0:57:090:57:12

If successful, it could revolutionise

0:57:150:57:18

the way doctors approach the diagnosis of conditions

0:57:180:57:22

that affect the brain.

0:57:220:57:24

Ensuring that more patients get the right treatment and recover.

0:57:240:57:28

Like Emily.

0:57:280:57:29

Her personality has come back.

0:57:320:57:34

She's that same person who was very outgoing, and very loving,

0:57:340:57:38

and the person that we had before.

0:57:380:57:40

She's just a wonderful person

0:57:400:57:43

and we're very, very happy.

0:57:430:57:45

Going through this illness has definitely changed me.

0:57:470:57:51

It showed me that, sometimes, you do get second chances,

0:57:510:57:54

but not to take them for granted.

0:57:540:57:56

Emily's story is a powerful reminder

0:58:000:58:03

that we're learning new things about the human body all the time.

0:58:030:58:07

And throughout this series,

0:58:090:58:10

we've encountered people who are helping to drive that progress.

0:58:100:58:14

Individuals with superhuman abilities,

0:58:160:58:19

others with incredible resilience when their body goes wrong

0:58:190:58:24

and the doctors who are unlocking their secrets.

0:58:240:58:27

This is truly the frontier of modern medicine, and it's come about

0:58:290:58:34

thanks to some of the most extraordinary people on the planet.

0:58:340:58:37

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