My Amazing Twin Horizon

Hey. Hey.

I'm Adam, the one with the face.

This is Neil,

my brother.

And believe it or not, we're identical twins.

Medically, we are really unusual.

I've seen science-fiction films with a plot that makes more sense.

We share the same genes, but we also share a genetic disease,

and it affects us in very different ways.

Up until now, all I've ever known about genetic mutation has been from,

to put it bluntly, comic books and superhero films.

I am, to all intents and purposes, a really shit superhero.

I have a facial disfigurement.

Neil has short-term memory loss.

Think goldfish.

Do you mind me asking you what day it is, Neil?

Wednesday...

I hope.

But so far, no-one can tell us why.

So, I'm going to investigate before things get any worse.

This could be a scary glimpse into each other's futures.

I'd rather know than be thinking, "what if" for the rest of my life.

I'm going to be around for a while,

or at least I plan to be around for a while.

It depends how good the experts are that we meet, really, doesn't it?

Why are we affected so differently by the same genetic disease?

And can I stop it from destroying our lives?

My face has always got me into trouble but it's also got me places.

A few years ago, I was asked to take part in a TV show,

and now everyone wants a piece of Adam Pearson.

So, we are at ITV Studios.

I'm going to go on This Morning to debate with journalist Samantha Brick

about the importance of appearance.

Should be relatively straightforward.

How are you? How you doing? Nice to see you. You all right?

Yeah. Good, good.

Now, I've got an agent, and I'm even getting some acting gigs.

But the thing that got me here could also destroy my life.

I have neurofibromatosis type 1

- a disease that causes tumours to grow along nerves.

But for some reason, these only happen on my face.

Despite 31 operations to remove them, they keep coming back.

I'm now blind in one eye and losing sight in the other.

Imagine viewing the world through a toilet roll.

Simon Eccles has been my surgeon since I was old enough

to leave paediatrics and move over to the adult world of medicine.

I think when someone cuts your face open on a regular basis,

you kind of build a friendship, dare I say a bromance.

Just close your eyes for me.

If I lift that and hold it there, can you still open and close?

Does it affect your vision at all?

Let go again.

No.

I'm just going to lift up your upper lid a bit more, just to have a look inside.

I think if we could just de-bulk that a bit,

and just support it a bit more at the side, that would be better.

Yeah. So, the layer on it is a bit like a trough,

and I guess the tears just run across the top...

Yeah. Yeah, and it weeps a lot.

Yeah.

There's nothing, no vision at all from that, is there?

No. Of course, we know that it would be great,

trying to lift those things up really high and support them,

but they will come down again, but at least it will give...

It will be good for a while.

Yeah. Unfortunately, for much of what we are doing now

for you, particularly, it's sort of firefighting.

There's nothing there at the moment that we can do to either alter

your genetics or to stop these growths from occurring.

Your face, really, in some ways, Adam, is one large neurofibroma.

So, all the tissues are abnormal. It's not just the skin.

It's the subcutaneous tissue. The bone is abnormal.

It even involves and infiltrates the muscles,

and of course it's in the nerves.

We can't remove it completely,

because that would damage the function forever.

And you know, if you lost the sight in that eye,

that would be a complete disaster.

So, the plan is to tighten everything up and push it as far as we can

without compromising on other things.

Operation 32? 32.

More morphine.

My brother Neil has very different problems.

But in the beginning, even our mother struggled to tell us apart.

They are identical.

And they did look alike. I fed the wrong baby once.

Did you know you were carrying children who had a gene mutation?

No, not at all.

It never crossed my mind.

When they were about 20 months old, they developed chronic asthma.

It was the paediatrician that treated them for their asthma

that eventually told us that they had neurofibromatosis.

When did you first start noticing changes to your face?

Probably when I first started going to school,

I started to notice the changes.

When you have your class photo taken,

you realise how different you look to everyone else.

You wake up every morning to get ready for school,

and you know exactly how your day is going to go.

You know, who's going to say it, where it's going to be said,

and that nothing is going to be done about it.

And you take this massive deep breath before you walk through

the school gates every day...

..and let it happen.

I'd say I had an easier childhood than Adam did,

cos, of course, there was nothing visually wrong with me.

But I was always told that there was a chance during puberty

that I could develop a facial disfigurement.

And instead I lost my memory.

Apart from being disorganised,

and that could be an NF thing, it could just be a man thing,

couldn't it, you know, he was fine, absolutely fine.

And for want of a better phrase,

you sort of began to think that he'd got away with it.

Then, when he was 14, he went out one evening, came back,

didn't know where he'd been or what he'd done.

He complained of a headache, and every time I turned around,

he was in bed, which, for Neil, was very unusual.

And then, about a year after that, he developed epilepsy.

What day is it today?

Today is...

It's either Tuesday or Wednesday.

The big medical conundrum is that we are genetically identical twins,

so the same genetic condition, but we look completely different

and our condition affects us completely differently.

Not only do we have no idea why, the world of medicine has no idea why.

I want to try and get to the bottom of it.

NF1 affects about one in 2,500,

but our extreme symptoms are unheard of.

15 years ago, when Neil's memory vanished,

a medical paper was written about the pair of us.

Doctors scanned both our heads to look for clues,

but what they found left everyone puzzled.

Since then, nothing more has been done.

Up until now, no-one has been able to explain definitively

why me and Neil are so different.

Who co-authored this paper?

Ros Ferner. She's the clinical lead on NF

and a neurologist at Guy's and St Thomas'.

The origins of this paper...

When Neil lost his short-term memory, we went to meet Ros,

and she was presented with two identical twins with the same

genetic condition who looked completely different and one had...

amnesia.

Hence this paper,

and MRI scans and various psychometric tests.

It says that our MRIs are remarkably similar,

that we have remarkably similar changes

that come up on our MRIs.

What does that mean to you?

Well, that raises the question,

why does Neil have memory loss and I don't?

Am I going to come home one day

and not know where I've been or what I've done?

Good morning, David Adams Library.

Over the years, Neil has learned to cope with his scrambled brain.

He surprised us all by getting a degree

and somehow he now runs a medical library.

Let me just make a note of that...

So, how long did it take you to learn how to run this library?

Luckily, it's a small library, so...

Took about six months to be able to say to people when they asked

a question, you know, "Where are these books kept?

"Where are those books kept?"

How do you get information from your short term

into your long-term memory?

The main way it happens is through repetition.

If I do something frequently enough,

it somehow manages to get from the short-term memory to the long-term

memory. Whereas, if it's something I do infrequently, say, like,

once a month, once every two months, or I do as a one-off,

then it stays in the short-term memory for a very,

very short space of time.

You know, I can't recall what I did

at all yesterday evening after work.

I take a copy of our old medical paper to Neil

in the hope of some inspiration.

How you doing? You all right?

I didn't recognise you with your hat on. No? No.

Why are you dressed like Bear Grylls?

So, when did you last read the Ros Ferner paper?

I can't remember.

The pad of...

BOTH: Destiny.

There we go. That's pictures of the MRI scans. It is.

"The third, perhaps most intriguing,

"is Twin One's amnesiac syndrome,

"the cause of which remains unestablished."

There we go. Unestablished.

So...

..do you think it would be worth

trying to go from unestablished to maybe sort of established?

I would like some more information

about even how it potentially could have happened.

Cos based on that article, it's almost shoulder-shrugging,

and they're saying, "We don't know."

I need answers.

Our brain scans are remarkably similar,

yet you've lost your memory and I haven't.

And you've got facial...

..disfigurement, and you don't.

So, this could be a scary glimpse into each other's futures.

Kind of... Is memory loss knocking at my door,

is disfigurement knocking at your door?

Is your memory loss even related to NF?

In 15 years, no-one has been able to solve our mystery.

So I dragged my brother and his weird brain back to Guy's Hospital

to meet one of the neurologists behind our paper,

Professor Ros Ferner.

Your problems had started in July 1999 at the end of the school term.

You were taken to Mayday Hospital.

They mentioned that you had a brain MRI that looked at the structures of

the brain more carefully, and then they saw some changes in the brain.

But I think they really concluded at that time that it was likely

that you had some form of infection, or what we call encephalitis.

So, I don't think this is part of the NF1 spectrum, per se.

Could I be certain about anything?

No.

In your opinion, would it be worth re-assessing and seeing

whether or not it could potentially be related to NF1,

or whether it's something completely different?

What I think would be helpful for you is if we did some up-to-date

imaging. We can't actually compare it with the previous imaging,

we just have the reports, but we may see some changes

in the brain that help us.

Is it worth, I suppose, getting the scan?

I mean, the thing that has sparked the whole question for me are these,

the remarkably similar...

..brain scans. Yes. I do understand that.

I have a dilemma for you - from the point of view of Neil,

he has an unexplained memory problem,

and I think that is a good reason for me to have a look at his scan.

When I thought about you, I didn't have a reason for repeating a scan.

OK. It is quite difficult for me,

because I'm not your treating physician. Yeah.

So, I have a sort of duty of care to people

that aren't my patients not to investigate them in that way.

Yeah. Is that OK?

Yeah, yeah. OK. I get your position, entirely.

I'm sorry, I'm making your life difficult but...

I feel that we came out with more knowledge than we went in with,

although...

..some of the questions we asked...

..she was slightly reluctant to answer directly, in my opinion.

How do you feel about that? Oh, yeah, yeah.

Yeah. I think when you say we came out knowing more than we

went in with... OK. I came out with more than I came in with.

How to word to this?

I'm not disappointed that I'm not going to have a scan.

I think...

She's not there, is she? No. Her reason's bullshit.

Did you understand her reasons?

Oh, yeah, I completely understand her reasons,

I just don't agree with them.

I understand today is a special day for you too.

Yes, Adam is 31.

I... I...

That is the most ridiculous thing you've ever said.

OK, we're 31. There we go.

BOTH: One, two, three...

BOTH: # Happy birthday to you

# Happy birthday to you

# Happy birthday. #

We've moved forward a little,

and it's Neil who gets the birthday present.

Four and a half minutes.

He seems...

fine with all of this. He's coping with it remarkably well, I think.

Perhaps the results of his brain scan will give me clues

as to what my future might hold.

In the meantime, we have something else to worry about.

NF1 patients need regular checkups,

because the disease is unpredictable.

In my case, the tumour started growing over my eyes,

but very occasionally these growths can become cancerous.

Well, I mean, one of the reasons for following you up closely

and all patients with NF1 is we know that it's rare but some

of these tumours can undergo malignant change.

And you say it's a rare, how... How rare?

Is there a quantifiable...?

I think, truthfully, again, I think you'd have to individualise it,

because, you know,

you're the only patient I have that I'm looking after who has such

extensive NF1 of their face.

But you know, we mustn't be sidetracked by the fact that

this is going on and there may be things developing elsewhere

that we haven't spotted. Because we've only really scanned your head

and neck, everything occurs in your head and neck,

but we haven't scanned the rest of your body, and, you know,

some people do do that, some institutions do do total body scans.

Which I guess is good to know from one perspective but of course,

you may find out other things that you didn't know about.

Mm-hmm.

So, what do you recommend? I have it done?

I think you'd have to think about it, cos of course it may be

that Neil would want to have it done as well, so you're going to both

have to think about what the consequences might be.

Once I think you've had a scan and you find something somewhere,

if you find something somewhere,

you're probably committed to having follow-up scans

to see how that changes.

Doctors have always focused on our heads because they're so different.

But what about our bodies?

Could we have hidden tumours elsewhere?

As always with this big stuff, I report back to Mum.

You can have full body scans in Belgium

to see if you have any internal fibromas.

If those throw up things that you're not expecting,

you then have to be scanned regularly and have it...

Have it monitored.

The fibromas can go anywhere, so they could be potentially...

You could be riddled with them. Is this what you're saying?

What I can say, and what is true, is all of these tests...

is once you know something...

..you can't un-know it, you can't un-ring a bell.

So, what would you want to know that you wouldn't want to know, then?

Me? Nothing. If I'm dying, I'd quite like a heads up.

I feel the same way. The good thing about having a memory problem,

though, is you can always forget.

That doesn't mean, again, so...

You're dying, you find out about it, you've forgotten about it,

the same logic applies. It doesn't mean... You're not going to die.

You're not dying. I don't think we're dying.

And quite frankly, I don't want to give Mum the satisfaction...

of outliving me.

What's the gain in knowing?

Knowing.

Oh. Great.

I'm excited.

We are off to meet one of the leading NF guys in the world,

who might have answers to questions that other doctors didn't have.

Yeah, that's fruit. That's good.

Right, well, that'll be cheese in a pastry that quite clearly

has a sugar glaze on top.

Where do you think we're going?

OK, pen...

Belgium has one of Europe's top research centres for NF1.

Here, we can both get full body scans

and pick the brains of a top researcher.

But it's the furthest I've taken Neil on my own.

What are your questions for Eric?

Why do you use full body scanning?

What could these scans potentially show?

And what does that mean?

And is there a God?

You're going to bring theology into this?

I'm just going to ask him outright because he's a geneticist.

So, are you hoping to get a scientific-based answer

as opposed to a theology-based answer?

I just want to ask a scientist if there is a God or not.

ANNOUNCEMENT IN FRENCH

No, in all seriousness, is there anything that you are

potentially worried could show up in these scans?

Dude, like I said, in 40 minutes...

In a 40 minute scan, our lives could change forever.

How do you mean?

I might be a lot sicker than I think I am, James Newton -

that's what that one means.

Breaking Neil's routine is risky.

He gets confused in new places, and when he's tired,

he is prone to epileptic fits.

Yeah.

These are a lot further away from each other.

Do you want to just narrow it down to one room?

Would you prefer to have Neil in the same room as you?

Yeah, I would.

Cos if he has a fit in the night,

I'm not going to hear it.

So I'm not going to be able to make sure he takes the clobazam to stop

the fit, and, yeah, I think it'd be easier if we're in the same room.

You have to ask for chocolate.

And he would like...

Oh, my God. I'm so happy.

The NF1 gene was only discovered in my lifetime.

But up until now, no-one can tell us why ours went wrong,

or why we ended up so different.

We meet world-leading NF1 expert, Professor Eric Legius.

No pressure(!)

Each time when the cell divides,

it has to make a copy of a six billion letter genetic code.

Once in a while, the mistake happens.

But most of the time, this mistake doesn't matter,

because if you read the newspaper,

you will find somewhere a printing error.

Yeah. But it doesn't matter,

because you understand what the person who wrote the sentence

wants to say. Yeah.

But if it says one, or if it says none,

that's only one letter difference,

but the meaning is completely different.

Yeah. So, sometimes a mistake doesn't have any consequences,

and sometimes it has severe consequences.

Yeah. Why do you think that myself and Neil, as identical twins,

have such different experiences of NF?

We have all our genetic material, we have a double set of it. Yeah.

We have one set of mother's side, and one set from father's side.

So, we have too NF1 genes,

one of them has a mutation in all cells,

making a plexiform neurofibroma.

The other gene is also mutated,

and if that happens during that narrow window in time,

during development of the nerve,

only then it is causing a plexiform neurofibroma,

so you can very well imagine that it happens in one of you but not

in the other. That it happens in one of you in the nerve that develops

in the face and maybe in the other one somewhere else in the body

where we don't see it. Yeah.

So, potentially, from these scans,

it could be a scenario where we find out that Adam hasn't got any

internally at all?

Right. And you have one.

And I'm absolutely full of them. Worst case scenario.

Well... Well, it happens in 50% of cases, so, statistically,

one of us is in for bad news.

One of us is getting bad news today.

You can turn the body...

Wow. ..and they highlight the nerves.

Yeah. So that you can see the nervous system and how it

is distributed over the body.

You can see through the body.

They are magicians.

Genes come in pairs, and we both share the same primary NF1 mutation.

But it's when the second copy goes wrong that you get tumours.

So the big question is, does Neil have a version of my face

somewhere in his body?

And he should probably sort out that underwear.

If Adam maintains his reputation, he's probably fallen asleep.

Yes? He used to fall...

When he had them as a child,

he used to fall asleep in the MRI machine all the time.

Well, good for him.

The report from the scans was done straight away,

so Eric sat us down for the results one at a time.

Adam, these are your images.

Here in the left arm, you see a swelling there.

Yeah. You see the nerves that are a little thickened here,

which is not a big deal, and here.

If we go to the back of the head, we also see this lesion here.

You see here, the spinal-cord, and just behind the spinal-cord,

and also there is a little bulging here of your neck,

so also here we should be able to feel it.

Does that hurt? No.

OK. OK, that's fine, yeah.

This is a swelling that should be followed.

OK. Yeah, I would say once a year.

Yeah.

Hi.

Sit down, please.

What we can see here is that nerves that come out of the spine

are a little thickened, right.

You can see them very clearly here and there,

but it's a generalised swelling,

which is not really a problem,

it's something that we see quite frequently.

We look in the legs...

In the left leg, here we see a neurofibroma.

Yeah.

That's just in the quadriceps muscle on the left side.

How has it managed to push its way through a muscle?

Oh, it grows very slowly.

Does it? OK. It grows very slowly and it pushes the muscle aside.

And it's probably sitting there for a very long time. OK.

So, this is a similar phenomenon as what you see in your brother's face.

OK. But it is deeply seated.

You don't see it, it doesn't hurt,

it doesn't look at all as something that is malignant or so.

OK. So, what we usually recommend is to leave it

until it is causing problems,

or until it is growing.

The second copy of our NF1 gene had gone wrong,

but in completely different places, giving both of us tumours.

For now, at least, none of them were cancerous.

I was curious more than worried to find out, firstly...

You weren't at all worried, one iota?

I mean, there was always the risk of there being something

that we didn't even know about.

And you were curious about that as opposed to worried?

So, whilst there won't be any new plexiforms growing,

nerves can still thicken and tumours can still grow.

So, it's a case of keeping on top of it, and continuing to monitor it.

Do I have control over my condition?

None whatsoever.

Hello! I was beginning to wonder if I was ever going to see you again.

Really? Yeah. Sorry to disappoint you.

How you doing?

Our trip to Belgium confirmed Neil and I had a few years left in us yet.

But it didn't explain why my disfigurement was so severe.

In 31 years,

no doctor I'd met had ever seen a face as badly affected as mine.

I get an appointment at Manchester's NF1 centre with top geneticist

Dr Sue Huson.

Maybe she can sort my face out.

So, do you have any photos with you?

I do. Yes.

OK. Right. That's pre-NF.

Yeah. So, who's who here?

I've got no frigging idea.

Right. OK.

I'm just beginning to think that the left side of your face

at that stage... You're beginning to pick up

a bit of thickening and asymmetry.

Yeah. Have you got one about eight or nine?

Ah, right. So then it really took off, didn't it?

Yeah. Can you see there that it is very specifically worse

on the left side of your face?

Yeah. And now I've spent more time with you,

I can see that here it's the lower half that's worse.

Yeah. And here, it's the upper half.

Where you are an NF puzzle is I've never seen anybody in my clinic

who's been unlucky enough to have both sides of the face involved.

So, what I kind of want to know as a geneticist,

and why I keep looking at your face in detail,

is did Adam have two events

or is there some way that your whole face has the same genetic change?

Does that make sense?

Oh, yeah. So, I don't know how far you want to take this,

but one possibility would be if you had a piece of tissue taken

from both sides that we could then look at the NF1 gene,

and my prediction is you were just the one in 40,000th person

who was unlucky enough to get

two hits during the development in the womb.

So, I am an NF god, to all intents and purposes.

You've been really, really unlucky.

Yeah.

My impression has always been that I've always had one fibroma

that has just grown over across my whole face,

whereas she thinks I've had two separate mutations,

here and here,

which goes from the one in 2,000 to the one in 40,000,

and it happens developmentally.

But the only way to know that for sure is to biopsy...

both areas

and see if the genetic coding in the cultures is different.

If Sue's correct, not only did I get mutations on the left side,

but also the right, causing my face to grow out of control.

What's really odd is that neither of our parents have the disease -

all our mutations are spontaneous,

which means they've happened for the first time.

Thanks, genetics.

This was child's play.

This was child's play(!)

I look like Hannibal Lecter's had a bit of a go.

You look more handsome than you did before.

Well, that was a backhanded compliment if I ever heard one, Simon.

LAUGHTER

Of all the doctors we'd met,

not one of them had seen symptoms as extreme as ours,

which is really cool, but very frustrating.

Mr Adam, yeah? Yes.

So I have decided to go on another adventure...

without Neil.

Parts of Vietnam have unusually high levels of genetic disease,

and some of the worst cases of NF1 in the world.

First on the plane.

'But does anyone know why?'

'And can I find a case as bad as ours?'

Hanoi is not a place for the partially sighted.

We're crossing, we're crossing!

HORNS BLARE

Oh, we made it, we made it!

It's also a very long way from Croydon.

Good morning, Vietnam.

Neil would die out here.

They don't have McDonalds or Nando's.

He would die of hunger, if dysentery didn't get a hold of him first.

I head to a rural area just outside the city where I'm joined by Zach,

a local guide.

He agreed to help me look for people with NF1,

and took me straight to a man with extreme symptoms.

Like me, his tumours have grown out of control.

But here in Vietnam, he wasn't alone.

In recent years, parts of this country have seen a huge increase

in genetic diseases like NF1,

and many believe the cause of this goes back 40 years.

Between '61 and '71, Vietnam was subject to intense chemical warfare.

The American military dropped around 80 million litres of Agent Orange,

a herbicide designed to clear jungle and expose the enemy.

But this chemical was thought to be one of the most toxic ever made

by man, and countless were exposed to high levels.

It's been hard to prove,

and scientists across the world are still arguing,

but Agent Orange is suspected by many to cause gene mutations.

Looking at this right now, Zach,

it makes a lot of sense how this can get into the human body.

They dropped the chemical, it goes into the ground,

which goes into the crops, which goes into our food, which goes into our...

our bodies.

It's crazy.

Once genes mutate, the effects can be passed on through generations,

but no-one here seems to know for how long these effects could be felt.

I head to the largest surgical hospital in the country

to meet Vietnam's top plastic surgeon.

How are you doing? Pleased to meet you. Very nice to meet you.

Adam. Adam. Pleasure.

I bring you to my department.

If I lived here, this is the man that would cut my face open.

Do you have many patients with neurofibromatosis?

Yes, I see more and more patients

with neurofibromatosis.

I always... I have 40 beds,

but I always have patients on the waiting list,

more than the number of patients I can do the surgery.

So, patients need to wait a long time to have surgery.

Have you ever met someone with a face like mine, with NF?

We see patients sometimes with...

..more severe than you,

and these people can have only one or two surgeries.

I think that you have a lot of surgery.

How many surgeries have you had in the UK? 31.

31 surgeries!

Mm-hmm. But in Vietnam, my patients,

they can have only one or two or three surgeries for all their life.

It is also an economic problem.

The doctor showed me examples of tumours he'd removed

from NF1 patients, some weighing as much as a small child.

But, as I know from experience,

surgery doesn't stop them growing back.

My question is, do you know that there's any medicine or drug?

Or we need to put the doctor and scientist together

and try to invent some drug or something,

where they can slow down or make this develop slowly,

or stop developing. Yeah.

So, if there was a drug that could shrink the size of tumours,

that would make a big difference to you and your patients, wouldn't it?

I think that we always dream about this kind of drug.

If there's a pill out there that can reduce the symptoms of NF

and it works and it's safe and, by some way, shape or form,

I can bring it here to Vietnam,

that's something I'm definitely up for doing.

Danang to the south was an area heavily sprayed with Agent Orange

during the war.

I was taken by Zach to one of a tiny number of centres built to provide

care and education for children with genetic diseases.

The centre provides respite for the many descendants of

military personnel who were exposed to the toxin during the war.

Without their support, families would struggle alone.

I was introduced to a mother and her disabled children,

who are now in their 40s.

Her husband served the Army,

and the husband was exposed to the Agent Orange during wartime.

They gave birth to one son and one daughter and they are all

Agent Orange victims. She by herself took care of two children for more

than 40 years already, by herself, because the husband died already.

She is always smiling.

Since she met me, she always smiles, very lovely smile.

When we asked her, "What is your big dream?"

She said that when she dies, there is someone that can bury her.

We were about to leave the centre

when Zach introduced me to a girl called Ding.

Like me, she also had NF1.

Her facial disfigurement was nowhere near as bad,

but something about her didn't seem right.

And how does your NF1 affect you on a day-to-day basis?

THEY SPEAK VIETNAMESE

She has no idea, because she could not remember anything.

She struggles to remember things?

When she was born, she was totally normal,

but year by year she started to lose and had trouble with memory,

so she stopped going to school and the family took her to the centre.

So, there was no accident,

no event in her life that could have triggered this memory loss?

It just came on?

She had no accident or unexpected happening in her life.

The tumours and the symptoms of this is exposed very naturally.

So, after...

15, 16 years of looking, I've finally found someone like Neil.

It also means I know where to bring Neil to live when Mum dies.

I thought I understood what it meant to have NF1,

but coming here has taught me that genetic diseases can affect us

very differently, depending on where we live.

Here, you're lucky to get a diagnosis, let alone treatment.

Do you remember when Adam got back?

He got back at the weekend.

I think he got back on Saturday.

But he... No?

Friday.

Sunday. There we go!

He got back on Sunday.

We're going to get there eventually.

I think if we'd have been born in Vietnam,

life would be very different.

Very, very different.

There was a moment when a doctor said to me that he wishes

there was a pill that patients could take and it would stop the tumours

growing or slow the growth down or make them smaller,

and there is a pill like that being trialled in America.

The trial is NF-specific.

OK.

Do you think it's a good idea?

I think it's worth looking into.

So, yes? Yes. There we go. Yeah.

When I returned from Vietnam,

my surgeon told me about a drug being trialled

that was shrinking tumours in NF patients.

If true, it's a game changer.

I travelled to Maryland, USA, to meet the mastermind behind it,

Dr Brigitte Widemann at the National Cancer Institute.

We've done clinical trials for NF1 plexiform neurofibromas,

that I think is the type of tumour that you have,

for more than 15 years.

And our goal has always been to see if we could either stop tumours

from growing or, ideally, even shrink them.

And we have now completed the analysis,

and more than 50% of the patients had what we call a partial response.

Partial response means clear, measurable shrinkage,

and this has actually been sustained,

meaning the tumours haven't re-grown in most of the patients.

Do you have the sense that your plexiform neurofibroma is stable,

meaning not changing at this time? Is it growing?

Yeah, no, they're growing, still.

I've also got a fibroma on the back of my neck.

I've got one under my arm.

Yeah. Would I be able to take part in your trial?

And does the fact that I'm slightly famous back in the UK

mean I can jump the list?

Or do I have to wait? Probably not. Oh, right. Probably not.

What is the point of being famous?

So, but...

This is one that potentially you could participate in.

Yeah. Now, what is the outcome that you would desire

if you were to go on a study?

Well, I think any kind of fibroma shrinkage is a good thing. Mm-hmm.

And I've had 32 surgeries, and I'm going to be having an operation

on my eyelid to open the eye a bit more. Yeah, yeah.

And so, any alternative I could have to a knife going near my eye is...

a good thing. Yeah. How much meaningful vision...?

Do you have completely normal vision in your eye at this point?

So, I'm blind in one eye, and I'm partially sighted in the other.

OK. These agents can have

at least potential toxicities to the eye,

so we would want to monitor that extremely closely.

There can be retinal detachment,

meaning detachment of the retina which could lead to vision loss,

potentially. We have not seen this at all,

but all of our patients get serial eye exams over time.

Where does that leave you, Adam?

I...

I don't know.

Huh.

I was introduced to five-year-old Paige,

who'd already been on a trial a few months.

Why don't you sit over here, Adam, because you could see... Over here?

If you could hold it up maybe next to Paige and you could get an idea.

Yeah.

There is a real reduction there.

Paige's eye is a lot more closed in the "before" photo,

which is very similar to mine.

I have a restricted aperture in my eye.

Our big concern was that the tumour was to her tonsils,

so keeping her airway open was a huge concern.

And since it's now stopped growing,

and not only stopped growing but has reduction already,

that is a big relief knowing that her airway is good.

Her ear was pretty much closed, which caused a lot of problems,

and now it's open all by itself,

and we haven't had an ear infection since.

Great. OK, Adam, going to fist-bump goodbye?

Yeah.

Yes, we got it on camera!

That happened.

That happened. Thank you, Adam. Very nice to meet you. Yeah, here.

All right, we're a family then.

Can you imagine the significance of this drug being available

in places like Vietnam?

Them going from not knowing what they're treating or how to treat it

to being able just to prescribe a pill.

That's world-changing.

Just being able to say to the doctor,

"You know you said you wanted a pill that could help patients with NF...

"Here it is."

The reason it's so game-changing is, up until now,

the only option for people with NF1, medically,

has been surgical intervention.

The biggest dilemma for me, by far,

is one of the possible side effects of this drug is retinal detachment.

That's the biggest catch-22 out of all of them.

It can improve my eyesight or it could make it...

make it worse.

What are you going to tell your mum and Neil?

I'm going to tell them about the drugs trial,

run through what was discussed with me by Dr Widemann,

and tell them I'm seriously considering enrolling.

Back in London, I take Neil to the NF clinic at Guy's Hospital

for the results of his brain scan.

Does he actually have one?

And if so, what happened to his memory?

So would you like to see what we found?

Yes, please. I can show you some pictures. OK.

We had a look at the hippocampus again.

Remember that's the part of the brain that is particularly involved

in memory. And it's a little bit like we've sliced you,

coming this way, OK.

But if you look here, right and left, can you see that area?

Both sides look rather bright compared with elsewhere.

What do we think is happening?

Well, normally the brain forms in different layers,

and it may be that the cells go to the wrong layer,

so it's a sort of difference in formation of the brain.

Now, I look after a lot of adults.

Most of the people that we see with these bright hippocampi

don't have any symptoms.

Sorry, so...

Are we saying that there might not be any relation

between the NF1 and the memory problem?

We don't think so, because we think,

from the clinical information that we gleaned all those years ago,

they felt that you had this sort of inflammation

due to a virus called encephalitis. Yeah.

And it seemed that the memory problem stemmed from that time.

So, are we saying that Neil's memory loss was caused by an infection?

Well, I think that's going to be my best conclusion at this moment.

Yeah. Is there a chance I could lose my memory?

I don't think that anything that we've seen in Neil

will relate to you, so...

Apart from normal ageing,

I think your memory will be the same as it is now.

One less thing for me to worry about.

I guess this means I have to keep writing "to do" lists for Neil.

At least he's unlikely to get any worse.

As for me, the biopsy results weren't as expected,

showing the same secondary mutation on both sides of my face.

This challenges current thinking as to when these events occur.

In my case, much earlier in the womb, after Neil and I split,

but before my face was divided into left and right,

making me kind of amazing.

Of course, knowing this doesn't stop my tumours from growing,

or my sight from getting any worse.

And until I can get on the American drugs trial, I have only one option -

surgery.

If I lost my sight, I'd make it work.

I didn't get this far by quitting at the first sign of adversity,

so this would just be another thing to kick its arse.

I'm assuming this will come down a lot as well.

Yeah. There's a lot of space that's filled up with fluid.

Oh, thank you. Very happy.

Job done.

Fast forward 30 years from now...

Yeah. What do things look like?

I don't want to think about that.

That's scary.

I've got to manage to hold my shit together for another 30 years.

What would you like your future to look like?

Move out, get married, get a dog.

Because that's practice for having kids.

Then have kids.

How about you, Neil?

Um...

I don't really like to plan too far ahead.

I like to set short goals.

And then, once they've been achieved,

review the situation and set another short goal.

There's no stopping neurofibromatosis -

it's a law unto itself.

But no matter what the future holds, we'll deal with it...

..together.

Watch this. It is amazing.