0:00:03 > 0:00:04Hey. Hey.
0:00:08 > 0:00:11I'm Adam, the one with the face.
0:00:11 > 0:00:13This is Neil,
0:00:13 > 0:00:15my brother.
0:00:17 > 0:00:21And believe it or not, we're identical twins.
0:00:21 > 0:00:24Medically, we are really unusual.
0:00:24 > 0:00:28I've seen science-fiction films with a plot that makes more sense.
0:00:28 > 0:00:32We share the same genes, but we also share a genetic disease,
0:00:32 > 0:00:36and it affects us in very different ways.
0:00:36 > 0:00:42Up until now, all I've ever known about genetic mutation has been from,
0:00:42 > 0:00:45to put it bluntly, comic books and superhero films.
0:00:45 > 0:00:49I am, to all intents and purposes, a really shit superhero.
0:00:49 > 0:00:52I have a facial disfigurement.
0:00:52 > 0:00:55Neil has short-term memory loss.
0:00:55 > 0:00:56Think goldfish.
0:00:57 > 0:01:00Do you mind me asking you what day it is, Neil?
0:01:00 > 0:01:03Wednesday...
0:01:03 > 0:01:05I hope.
0:01:05 > 0:01:08But so far, no-one can tell us why.
0:01:08 > 0:01:13So, I'm going to investigate before things get any worse.
0:01:13 > 0:01:19This could be a scary glimpse into each other's futures.
0:01:19 > 0:01:25I'd rather know than be thinking, "what if" for the rest of my life.
0:01:25 > 0:01:28I'm going to be around for a while,
0:01:28 > 0:01:32or at least I plan to be around for a while.
0:01:32 > 0:01:35It depends how good the experts are that we meet, really, doesn't it?
0:01:38 > 0:01:42Why are we affected so differently by the same genetic disease?
0:01:42 > 0:01:45And can I stop it from destroying our lives?
0:02:06 > 0:02:12My face has always got me into trouble but it's also got me places.
0:02:12 > 0:02:16A few years ago, I was asked to take part in a TV show,
0:02:16 > 0:02:20and now everyone wants a piece of Adam Pearson.
0:02:20 > 0:02:22So, we are at ITV Studios.
0:02:22 > 0:02:27I'm going to go on This Morning to debate with journalist Samantha Brick
0:02:27 > 0:02:30about the importance of appearance.
0:02:30 > 0:02:32Should be relatively straightforward.
0:02:32 > 0:02:35How are you? How you doing? Nice to see you. You all right?
0:02:35 > 0:02:37Yeah. Good, good.
0:02:37 > 0:02:41Now, I've got an agent, and I'm even getting some acting gigs.
0:02:41 > 0:02:44But the thing that got me here could also destroy my life.
0:02:50 > 0:02:55I have neurofibromatosis type 1
0:02:55 > 0:02:59- a disease that causes tumours to grow along nerves.
0:02:59 > 0:03:02But for some reason, these only happen on my face.
0:03:03 > 0:03:08Despite 31 operations to remove them, they keep coming back.
0:03:08 > 0:03:12I'm now blind in one eye and losing sight in the other.
0:03:13 > 0:03:16Imagine viewing the world through a toilet roll.
0:03:20 > 0:03:25Simon Eccles has been my surgeon since I was old enough
0:03:25 > 0:03:30to leave paediatrics and move over to the adult world of medicine.
0:03:34 > 0:03:40I think when someone cuts your face open on a regular basis,
0:03:40 > 0:03:44you kind of build a friendship, dare I say a bromance.
0:03:48 > 0:03:50Just close your eyes for me.
0:03:52 > 0:03:56If I lift that and hold it there, can you still open and close?
0:03:57 > 0:03:59Does it affect your vision at all?
0:03:59 > 0:04:00Let go again.
0:04:00 > 0:04:02No.
0:04:03 > 0:04:07I'm just going to lift up your upper lid a bit more, just to have a look inside.
0:04:07 > 0:04:09I think if we could just de-bulk that a bit,
0:04:09 > 0:04:12and just support it a bit more at the side, that would be better.
0:04:12 > 0:04:14Yeah. So, the layer on it is a bit like a trough,
0:04:14 > 0:04:16and I guess the tears just run across the top...
0:04:16 > 0:04:19Yeah. Yeah, and it weeps a lot.
0:04:19 > 0:04:21Yeah.
0:04:21 > 0:04:23There's nothing, no vision at all from that, is there?
0:04:23 > 0:04:26No. Of course, we know that it would be great,
0:04:26 > 0:04:28trying to lift those things up really high and support them,
0:04:28 > 0:04:32but they will come down again, but at least it will give...
0:04:32 > 0:04:33It will be good for a while.
0:04:33 > 0:04:36Yeah. Unfortunately, for much of what we are doing now
0:04:36 > 0:04:39for you, particularly, it's sort of firefighting.
0:04:39 > 0:04:42There's nothing there at the moment that we can do to either alter
0:04:42 > 0:04:46your genetics or to stop these growths from occurring.
0:04:46 > 0:04:50Your face, really, in some ways, Adam, is one large neurofibroma.
0:04:50 > 0:04:53So, all the tissues are abnormal. It's not just the skin.
0:04:53 > 0:04:57It's the subcutaneous tissue. The bone is abnormal.
0:04:57 > 0:04:59It even involves and infiltrates the muscles,
0:04:59 > 0:05:01and of course it's in the nerves.
0:05:01 > 0:05:02We can't remove it completely,
0:05:02 > 0:05:05because that would damage the function forever.
0:05:05 > 0:05:07And you know, if you lost the sight in that eye,
0:05:07 > 0:05:09that would be a complete disaster.
0:05:10 > 0:05:14So, the plan is to tighten everything up and push it as far as we can
0:05:14 > 0:05:17without compromising on other things.
0:05:18 > 0:05:21Operation 32? 32.
0:05:23 > 0:05:25More morphine.
0:05:30 > 0:05:33My brother Neil has very different problems.
0:05:35 > 0:05:38But in the beginning, even our mother struggled to tell us apart.
0:05:39 > 0:05:41They are identical.
0:05:43 > 0:05:46And they did look alike. I fed the wrong baby once.
0:05:49 > 0:05:52Did you know you were carrying children who had a gene mutation?
0:05:52 > 0:05:53No, not at all.
0:05:53 > 0:05:55It never crossed my mind.
0:05:57 > 0:06:01When they were about 20 months old, they developed chronic asthma.
0:06:01 > 0:06:04It was the paediatrician that treated them for their asthma
0:06:04 > 0:06:08that eventually told us that they had neurofibromatosis.
0:06:15 > 0:06:17When did you first start noticing changes to your face?
0:06:20 > 0:06:22Probably when I first started going to school,
0:06:22 > 0:06:24I started to notice the changes.
0:06:24 > 0:06:27When you have your class photo taken,
0:06:27 > 0:06:31you realise how different you look to everyone else.
0:06:33 > 0:06:36You wake up every morning to get ready for school,
0:06:36 > 0:06:39and you know exactly how your day is going to go.
0:06:39 > 0:06:42You know, who's going to say it, where it's going to be said,
0:06:42 > 0:06:45and that nothing is going to be done about it.
0:06:48 > 0:06:50And you take this massive deep breath before you walk through
0:06:50 > 0:06:52the school gates every day...
0:06:54 > 0:06:56..and let it happen.
0:06:59 > 0:07:03I'd say I had an easier childhood than Adam did,
0:07:03 > 0:07:06cos, of course, there was nothing visually wrong with me.
0:07:09 > 0:07:14But I was always told that there was a chance during puberty
0:07:14 > 0:07:17that I could develop a facial disfigurement.
0:07:21 > 0:07:22And instead I lost my memory.
0:07:25 > 0:07:28Apart from being disorganised,
0:07:28 > 0:07:31and that could be an NF thing, it could just be a man thing,
0:07:31 > 0:07:35couldn't it, you know, he was fine, absolutely fine.
0:07:35 > 0:07:37And for want of a better phrase,
0:07:37 > 0:07:40you sort of began to think that he'd got away with it.
0:07:42 > 0:07:46Then, when he was 14, he went out one evening, came back,
0:07:46 > 0:07:49didn't know where he'd been or what he'd done.
0:07:49 > 0:07:52He complained of a headache, and every time I turned around,
0:07:52 > 0:07:55he was in bed, which, for Neil, was very unusual.
0:08:00 > 0:08:03And then, about a year after that, he developed epilepsy.
0:08:08 > 0:08:10What day is it today?
0:08:10 > 0:08:11Today is...
0:08:19 > 0:08:21It's either Tuesday or Wednesday.
0:08:42 > 0:08:47The big medical conundrum is that we are genetically identical twins,
0:08:47 > 0:08:51so the same genetic condition, but we look completely different
0:08:51 > 0:08:54and our condition affects us completely differently.
0:08:57 > 0:09:01Not only do we have no idea why, the world of medicine has no idea why.
0:09:02 > 0:09:04I want to try and get to the bottom of it.
0:09:19 > 0:09:23NF1 affects about one in 2,500,
0:09:23 > 0:09:26but our extreme symptoms are unheard of.
0:09:28 > 0:09:3115 years ago, when Neil's memory vanished,
0:09:31 > 0:09:34a medical paper was written about the pair of us.
0:09:35 > 0:09:38Doctors scanned both our heads to look for clues,
0:09:38 > 0:09:41but what they found left everyone puzzled.
0:09:42 > 0:09:44Since then, nothing more has been done.
0:09:46 > 0:09:50Up until now, no-one has been able to explain definitively
0:09:50 > 0:09:54why me and Neil are so different.
0:09:54 > 0:09:55Who co-authored this paper?
0:09:55 > 0:09:59Ros Ferner. She's the clinical lead on NF
0:09:59 > 0:10:03and a neurologist at Guy's and St Thomas'.
0:10:03 > 0:10:06The origins of this paper...
0:10:06 > 0:10:12When Neil lost his short-term memory, we went to meet Ros,
0:10:12 > 0:10:16and she was presented with two identical twins with the same
0:10:16 > 0:10:20genetic condition who looked completely different and one had...
0:10:20 > 0:10:22amnesia.
0:10:22 > 0:10:24Hence this paper,
0:10:24 > 0:10:30and MRI scans and various psychometric tests.
0:10:38 > 0:10:43It says that our MRIs are remarkably similar,
0:10:43 > 0:10:47that we have remarkably similar changes
0:10:47 > 0:10:50that come up on our MRIs.
0:10:52 > 0:10:54What does that mean to you?
0:10:57 > 0:10:59Well, that raises the question,
0:10:59 > 0:11:02why does Neil have memory loss and I don't?
0:11:05 > 0:11:06Am I going to come home one day
0:11:06 > 0:11:10and not know where I've been or what I've done?
0:11:19 > 0:11:21Good morning, David Adams Library.
0:11:21 > 0:11:25Over the years, Neil has learned to cope with his scrambled brain.
0:11:25 > 0:11:28He surprised us all by getting a degree
0:11:28 > 0:11:31and somehow he now runs a medical library.
0:11:31 > 0:11:35Let me just make a note of that...
0:11:35 > 0:11:39So, how long did it take you to learn how to run this library?
0:11:39 > 0:11:41Luckily, it's a small library, so...
0:11:43 > 0:11:46Took about six months to be able to say to people when they asked
0:11:46 > 0:11:49a question, you know, "Where are these books kept?
0:11:49 > 0:11:51"Where are those books kept?"
0:11:58 > 0:12:01How do you get information from your short term
0:12:01 > 0:12:03into your long-term memory?
0:12:03 > 0:12:06The main way it happens is through repetition.
0:12:06 > 0:12:09If I do something frequently enough,
0:12:09 > 0:12:13it somehow manages to get from the short-term memory to the long-term
0:12:13 > 0:12:19memory. Whereas, if it's something I do infrequently, say, like,
0:12:19 > 0:12:23once a month, once every two months, or I do as a one-off,
0:12:23 > 0:12:26then it stays in the short-term memory for a very,
0:12:26 > 0:12:28very short space of time.
0:12:31 > 0:12:34You know, I can't recall what I did
0:12:34 > 0:12:38at all yesterday evening after work.
0:12:44 > 0:12:47I take a copy of our old medical paper to Neil
0:12:47 > 0:12:50in the hope of some inspiration.
0:12:50 > 0:12:52How you doing? You all right?
0:12:52 > 0:12:55I didn't recognise you with your hat on. No? No.
0:12:55 > 0:12:58Why are you dressed like Bear Grylls?
0:13:00 > 0:13:03So, when did you last read the Ros Ferner paper?
0:13:07 > 0:13:08I can't remember.
0:13:13 > 0:13:15The pad of...
0:13:15 > 0:13:16BOTH: Destiny.
0:13:17 > 0:13:22There we go. That's pictures of the MRI scans. It is.
0:13:22 > 0:13:24"The third, perhaps most intriguing,
0:13:24 > 0:13:27"is Twin One's amnesiac syndrome,
0:13:27 > 0:13:31"the cause of which remains unestablished."
0:13:31 > 0:13:33There we go. Unestablished.
0:13:33 > 0:13:35So...
0:13:37 > 0:13:40..do you think it would be worth
0:13:40 > 0:13:46trying to go from unestablished to maybe sort of established?
0:13:46 > 0:13:49I would like some more information
0:13:49 > 0:13:53about even how it potentially could have happened.
0:13:53 > 0:13:56Cos based on that article, it's almost shoulder-shrugging,
0:13:56 > 0:13:59and they're saying, "We don't know."
0:14:00 > 0:14:02I need answers.
0:14:02 > 0:14:05Our brain scans are remarkably similar,
0:14:05 > 0:14:07yet you've lost your memory and I haven't.
0:14:07 > 0:14:09And you've got facial...
0:14:09 > 0:14:12..disfigurement, and you don't.
0:14:12 > 0:14:19So, this could be a scary glimpse into each other's futures.
0:14:19 > 0:14:22Kind of... Is memory loss knocking at my door,
0:14:22 > 0:14:24is disfigurement knocking at your door?
0:14:24 > 0:14:27Is your memory loss even related to NF?
0:14:30 > 0:14:33In 15 years, no-one has been able to solve our mystery.
0:14:34 > 0:14:39So I dragged my brother and his weird brain back to Guy's Hospital
0:14:39 > 0:14:41to meet one of the neurologists behind our paper,
0:14:41 > 0:14:44Professor Ros Ferner.
0:14:44 > 0:14:49Your problems had started in July 1999 at the end of the school term.
0:14:49 > 0:14:53You were taken to Mayday Hospital.
0:14:53 > 0:14:57They mentioned that you had a brain MRI that looked at the structures of
0:14:57 > 0:15:02the brain more carefully, and then they saw some changes in the brain.
0:15:02 > 0:15:07But I think they really concluded at that time that it was likely
0:15:07 > 0:15:12that you had some form of infection, or what we call encephalitis.
0:15:12 > 0:15:16So, I don't think this is part of the NF1 spectrum, per se.
0:15:17 > 0:15:19Could I be certain about anything?
0:15:19 > 0:15:21No.
0:15:21 > 0:15:24In your opinion, would it be worth re-assessing and seeing
0:15:24 > 0:15:27whether or not it could potentially be related to NF1,
0:15:27 > 0:15:30or whether it's something completely different?
0:15:30 > 0:15:33What I think would be helpful for you is if we did some up-to-date
0:15:33 > 0:15:37imaging. We can't actually compare it with the previous imaging,
0:15:37 > 0:15:41we just have the reports, but we may see some changes
0:15:41 > 0:15:44in the brain that help us.
0:15:44 > 0:15:48Is it worth, I suppose, getting the scan?
0:15:48 > 0:15:53I mean, the thing that has sparked the whole question for me are these,
0:15:53 > 0:15:55the remarkably similar...
0:15:57 > 0:16:00..brain scans. Yes. I do understand that.
0:16:03 > 0:16:08I have a dilemma for you - from the point of view of Neil,
0:16:08 > 0:16:12he has an unexplained memory problem,
0:16:12 > 0:16:17and I think that is a good reason for me to have a look at his scan.
0:16:18 > 0:16:25When I thought about you, I didn't have a reason for repeating a scan.
0:16:25 > 0:16:27OK. It is quite difficult for me,
0:16:27 > 0:16:30because I'm not your treating physician. Yeah.
0:16:30 > 0:16:33So, I have a sort of duty of care to people
0:16:33 > 0:16:38that aren't my patients not to investigate them in that way.
0:16:38 > 0:16:40Yeah. Is that OK?
0:16:40 > 0:16:43Yeah, yeah. OK. I get your position, entirely.
0:16:43 > 0:16:45I'm sorry, I'm making your life difficult but...
0:16:48 > 0:16:52I feel that we came out with more knowledge than we went in with,
0:16:52 > 0:16:53although...
0:16:55 > 0:16:57..some of the questions we asked...
0:16:58 > 0:17:01..she was slightly reluctant to answer directly, in my opinion.
0:17:01 > 0:17:04How do you feel about that? Oh, yeah, yeah.
0:17:04 > 0:17:08Yeah. I think when you say we came out knowing more than we
0:17:08 > 0:17:13went in with... OK. I came out with more than I came in with.
0:17:13 > 0:17:15How to word to this?
0:17:15 > 0:17:18I'm not disappointed that I'm not going to have a scan.
0:17:19 > 0:17:20I think...
0:17:20 > 0:17:23She's not there, is she? No. Her reason's bullshit.
0:17:23 > 0:17:25Did you understand her reasons?
0:17:25 > 0:17:27Oh, yeah, I completely understand her reasons,
0:17:27 > 0:17:29I just don't agree with them.
0:17:31 > 0:17:35I understand today is a special day for you too.
0:17:35 > 0:17:36Yes, Adam is 31.
0:17:37 > 0:17:38I... I...
0:17:40 > 0:17:43That is the most ridiculous thing you've ever said.
0:17:43 > 0:17:45OK, we're 31. There we go.
0:17:45 > 0:17:47BOTH: One, two, three...
0:17:47 > 0:17:50BOTH: # Happy birthday to you
0:17:50 > 0:17:53# Happy birthday to you
0:17:53 > 0:17:58# Happy birthday. #
0:18:04 > 0:18:07We've moved forward a little,
0:18:07 > 0:18:09and it's Neil who gets the birthday present.
0:18:11 > 0:18:13Four and a half minutes.
0:18:15 > 0:18:17He seems...
0:18:17 > 0:18:20fine with all of this. He's coping with it remarkably well, I think.
0:18:22 > 0:18:25Perhaps the results of his brain scan will give me clues
0:18:25 > 0:18:27as to what my future might hold.
0:18:38 > 0:18:41In the meantime, we have something else to worry about.
0:18:42 > 0:18:44NF1 patients need regular checkups,
0:18:44 > 0:18:47because the disease is unpredictable.
0:18:47 > 0:18:51In my case, the tumour started growing over my eyes,
0:18:51 > 0:18:55but very occasionally these growths can become cancerous.
0:18:58 > 0:19:01Well, I mean, one of the reasons for following you up closely
0:19:01 > 0:19:04and all patients with NF1 is we know that it's rare but some
0:19:04 > 0:19:07of these tumours can undergo malignant change.
0:19:07 > 0:19:11And you say it's a rare, how... How rare?
0:19:11 > 0:19:13Is there a quantifiable...?
0:19:13 > 0:19:17I think, truthfully, again, I think you'd have to individualise it,
0:19:17 > 0:19:19because, you know,
0:19:19 > 0:19:22you're the only patient I have that I'm looking after who has such
0:19:22 > 0:19:24extensive NF1 of their face.
0:19:26 > 0:19:29But you know, we mustn't be sidetracked by the fact that
0:19:29 > 0:19:32this is going on and there may be things developing elsewhere
0:19:32 > 0:19:35that we haven't spotted. Because we've only really scanned your head
0:19:35 > 0:19:38and neck, everything occurs in your head and neck,
0:19:38 > 0:19:41but we haven't scanned the rest of your body, and, you know,
0:19:41 > 0:19:45some people do do that, some institutions do do total body scans.
0:19:45 > 0:19:49Which I guess is good to know from one perspective but of course,
0:19:49 > 0:19:52you may find out other things that you didn't know about.
0:19:52 > 0:19:53Mm-hmm.
0:19:53 > 0:19:56So, what do you recommend? I have it done?
0:19:58 > 0:20:01I think you'd have to think about it, cos of course it may be
0:20:01 > 0:20:04that Neil would want to have it done as well, so you're going to both
0:20:04 > 0:20:07have to think about what the consequences might be.
0:20:07 > 0:20:11Once I think you've had a scan and you find something somewhere,
0:20:11 > 0:20:12if you find something somewhere,
0:20:12 > 0:20:15you're probably committed to having follow-up scans
0:20:15 > 0:20:16to see how that changes.
0:20:20 > 0:20:25Doctors have always focused on our heads because they're so different.
0:20:25 > 0:20:27But what about our bodies?
0:20:27 > 0:20:29Could we have hidden tumours elsewhere?
0:20:31 > 0:20:35As always with this big stuff, I report back to Mum.
0:20:35 > 0:20:38You can have full body scans in Belgium
0:20:38 > 0:20:42to see if you have any internal fibromas.
0:20:42 > 0:20:47If those throw up things that you're not expecting,
0:20:47 > 0:20:50you then have to be scanned regularly and have it...
0:20:50 > 0:20:52Have it monitored.
0:20:52 > 0:20:55The fibromas can go anywhere, so they could be potentially...
0:20:55 > 0:20:58You could be riddled with them. Is this what you're saying?
0:21:01 > 0:21:05What I can say, and what is true, is all of these tests...
0:21:05 > 0:21:07is once you know something...
0:21:10 > 0:21:13..you can't un-know it, you can't un-ring a bell.
0:21:14 > 0:21:18So, what would you want to know that you wouldn't want to know, then?
0:21:22 > 0:21:26Me? Nothing. If I'm dying, I'd quite like a heads up.
0:21:28 > 0:21:31I feel the same way. The good thing about having a memory problem,
0:21:31 > 0:21:33though, is you can always forget.
0:21:33 > 0:21:36That doesn't mean, again, so...
0:21:36 > 0:21:40You're dying, you find out about it, you've forgotten about it,
0:21:40 > 0:21:43the same logic applies. It doesn't mean... You're not going to die.
0:21:43 > 0:21:45You're not dying. I don't think we're dying.
0:21:45 > 0:21:49And quite frankly, I don't want to give Mum the satisfaction...
0:21:49 > 0:21:51of outliving me.
0:21:51 > 0:21:53What's the gain in knowing?
0:21:53 > 0:21:55Knowing.
0:21:55 > 0:21:57Oh. Great.
0:22:03 > 0:22:06I'm excited.
0:22:06 > 0:22:12We are off to meet one of the leading NF guys in the world,
0:22:12 > 0:22:17who might have answers to questions that other doctors didn't have.
0:22:26 > 0:22:28Yeah, that's fruit. That's good.
0:22:28 > 0:22:32Right, well, that'll be cheese in a pastry that quite clearly
0:22:32 > 0:22:34has a sugar glaze on top.
0:22:36 > 0:22:38Where do you think we're going?
0:22:41 > 0:22:43OK, pen...
0:22:45 > 0:22:49Belgium has one of Europe's top research centres for NF1.
0:22:49 > 0:22:52Here, we can both get full body scans
0:22:52 > 0:22:55and pick the brains of a top researcher.
0:22:55 > 0:22:59But it's the furthest I've taken Neil on my own.
0:22:59 > 0:23:02What are your questions for Eric?
0:23:02 > 0:23:04Why do you use full body scanning?
0:23:04 > 0:23:06What could these scans potentially show?
0:23:06 > 0:23:08And what does that mean?
0:23:09 > 0:23:11And is there a God?
0:23:11 > 0:23:14You're going to bring theology into this?
0:23:14 > 0:23:17I'm just going to ask him outright because he's a geneticist.
0:23:19 > 0:23:21So, are you hoping to get a scientific-based answer
0:23:21 > 0:23:23as opposed to a theology-based answer?
0:23:23 > 0:23:26I just want to ask a scientist if there is a God or not.
0:23:26 > 0:23:28ANNOUNCEMENT IN FRENCH
0:23:32 > 0:23:35No, in all seriousness, is there anything that you are
0:23:35 > 0:23:38potentially worried could show up in these scans?
0:23:38 > 0:23:40Dude, like I said, in 40 minutes...
0:23:40 > 0:23:43In a 40 minute scan, our lives could change forever.
0:23:45 > 0:23:46How do you mean?
0:23:48 > 0:23:52I might be a lot sicker than I think I am, James Newton -
0:23:52 > 0:23:53that's what that one means.
0:23:56 > 0:23:59Breaking Neil's routine is risky.
0:23:59 > 0:24:02He gets confused in new places, and when he's tired,
0:24:02 > 0:24:04he is prone to epileptic fits.
0:24:04 > 0:24:06Yeah.
0:24:06 > 0:24:09These are a lot further away from each other.
0:24:09 > 0:24:13Do you want to just narrow it down to one room?
0:24:13 > 0:24:15Would you prefer to have Neil in the same room as you?
0:24:15 > 0:24:17Yeah, I would.
0:24:17 > 0:24:22Cos if he has a fit in the night,
0:24:22 > 0:24:24I'm not going to hear it.
0:24:24 > 0:24:29So I'm not going to be able to make sure he takes the clobazam to stop
0:24:29 > 0:24:34the fit, and, yeah, I think it'd be easier if we're in the same room.
0:24:43 > 0:24:45You have to ask for chocolate.
0:24:45 > 0:24:47And he would like...
0:24:52 > 0:24:55Oh, my God. I'm so happy.
0:25:09 > 0:25:11The NF1 gene was only discovered in my lifetime.
0:25:14 > 0:25:18But up until now, no-one can tell us why ours went wrong,
0:25:18 > 0:25:20or why we ended up so different.
0:25:22 > 0:25:26We meet world-leading NF1 expert, Professor Eric Legius.
0:25:27 > 0:25:29No pressure(!)
0:25:30 > 0:25:32Each time when the cell divides,
0:25:32 > 0:25:38it has to make a copy of a six billion letter genetic code.
0:25:38 > 0:25:41Once in a while, the mistake happens.
0:25:41 > 0:25:45But most of the time, this mistake doesn't matter,
0:25:45 > 0:25:47because if you read the newspaper,
0:25:47 > 0:25:50you will find somewhere a printing error.
0:25:50 > 0:25:51Yeah. But it doesn't matter,
0:25:51 > 0:25:55because you understand what the person who wrote the sentence
0:25:55 > 0:25:58wants to say. Yeah.
0:25:58 > 0:26:03But if it says one, or if it says none,
0:26:03 > 0:26:06that's only one letter difference,
0:26:06 > 0:26:08but the meaning is completely different.
0:26:08 > 0:26:12Yeah. So, sometimes a mistake doesn't have any consequences,
0:26:12 > 0:26:16and sometimes it has severe consequences.
0:26:16 > 0:26:21Yeah. Why do you think that myself and Neil, as identical twins,
0:26:21 > 0:26:26have such different experiences of NF?
0:26:26 > 0:26:29We have all our genetic material, we have a double set of it. Yeah.
0:26:29 > 0:26:34We have one set of mother's side, and one set from father's side.
0:26:34 > 0:26:37So, we have too NF1 genes,
0:26:37 > 0:26:40one of them has a mutation in all cells,
0:26:40 > 0:26:43making a plexiform neurofibroma.
0:26:43 > 0:26:47The other gene is also mutated,
0:26:47 > 0:26:51and if that happens during that narrow window in time,
0:26:51 > 0:26:53during development of the nerve,
0:26:53 > 0:26:57only then it is causing a plexiform neurofibroma,
0:26:57 > 0:27:02so you can very well imagine that it happens in one of you but not
0:27:02 > 0:27:08in the other. That it happens in one of you in the nerve that develops
0:27:08 > 0:27:13in the face and maybe in the other one somewhere else in the body
0:27:13 > 0:27:15where we don't see it. Yeah.
0:27:15 > 0:27:17So, potentially, from these scans,
0:27:17 > 0:27:21it could be a scenario where we find out that Adam hasn't got any
0:27:21 > 0:27:22internally at all?
0:27:22 > 0:27:24Right. And you have one.
0:27:24 > 0:27:27And I'm absolutely full of them. Worst case scenario.
0:27:27 > 0:27:31Well... Well, it happens in 50% of cases, so, statistically,
0:27:31 > 0:27:33one of us is in for bad news.
0:27:33 > 0:27:35One of us is getting bad news today.
0:27:53 > 0:27:55You can turn the body...
0:27:55 > 0:27:58Wow. ..and they highlight the nerves.
0:27:58 > 0:28:02Yeah. So that you can see the nervous system and how it
0:28:02 > 0:28:04is distributed over the body.
0:28:05 > 0:28:08You can see through the body.
0:28:08 > 0:28:10They are magicians.
0:28:14 > 0:28:20Genes come in pairs, and we both share the same primary NF1 mutation.
0:28:20 > 0:28:25But it's when the second copy goes wrong that you get tumours.
0:28:25 > 0:28:28So the big question is, does Neil have a version of my face
0:28:28 > 0:28:30somewhere in his body?
0:28:32 > 0:28:35And he should probably sort out that underwear.
0:28:41 > 0:28:45If Adam maintains his reputation, he's probably fallen asleep.
0:28:45 > 0:28:47Yes? He used to fall...
0:28:47 > 0:28:49When he had them as a child,
0:28:49 > 0:28:51he used to fall asleep in the MRI machine all the time.
0:28:51 > 0:28:53Well, good for him.
0:28:58 > 0:29:01The report from the scans was done straight away,
0:29:01 > 0:29:04so Eric sat us down for the results one at a time.
0:29:06 > 0:29:08Adam, these are your images.
0:29:08 > 0:29:12Here in the left arm, you see a swelling there.
0:29:12 > 0:29:18Yeah. You see the nerves that are a little thickened here,
0:29:18 > 0:29:21which is not a big deal, and here.
0:29:21 > 0:29:25If we go to the back of the head, we also see this lesion here.
0:29:27 > 0:29:33You see here, the spinal-cord, and just behind the spinal-cord,
0:29:33 > 0:29:37and also there is a little bulging here of your neck,
0:29:37 > 0:29:41so also here we should be able to feel it.
0:29:46 > 0:29:48Does that hurt? No.
0:29:50 > 0:29:52OK. OK, that's fine, yeah.
0:29:54 > 0:29:58This is a swelling that should be followed.
0:29:58 > 0:30:01OK. Yeah, I would say once a year.
0:30:01 > 0:30:02Yeah.
0:30:04 > 0:30:06Hi.
0:30:08 > 0:30:09Sit down, please.
0:30:11 > 0:30:16What we can see here is that nerves that come out of the spine
0:30:16 > 0:30:18are a little thickened, right.
0:30:18 > 0:30:21You can see them very clearly here and there,
0:30:21 > 0:30:25but it's a generalised swelling,
0:30:25 > 0:30:27which is not really a problem,
0:30:27 > 0:30:30it's something that we see quite frequently.
0:30:30 > 0:30:32We look in the legs...
0:30:32 > 0:30:37In the left leg, here we see a neurofibroma.
0:30:37 > 0:30:38Yeah.
0:30:38 > 0:30:43That's just in the quadriceps muscle on the left side.
0:30:43 > 0:30:47How has it managed to push its way through a muscle?
0:30:47 > 0:30:49Oh, it grows very slowly.
0:30:49 > 0:30:53Does it? OK. It grows very slowly and it pushes the muscle aside.
0:30:53 > 0:30:57And it's probably sitting there for a very long time. OK.
0:30:57 > 0:31:01So, this is a similar phenomenon as what you see in your brother's face.
0:31:01 > 0:31:04OK. But it is deeply seated.
0:31:07 > 0:31:10You don't see it, it doesn't hurt,
0:31:10 > 0:31:16it doesn't look at all as something that is malignant or so.
0:31:16 > 0:31:20OK. So, what we usually recommend is to leave it
0:31:20 > 0:31:24until it is causing problems,
0:31:24 > 0:31:28or until it is growing.
0:31:36 > 0:31:39The second copy of our NF1 gene had gone wrong,
0:31:39 > 0:31:43but in completely different places, giving both of us tumours.
0:31:45 > 0:31:47For now, at least, none of them were cancerous.
0:31:49 > 0:31:55I was curious more than worried to find out, firstly...
0:31:55 > 0:31:57You weren't at all worried, one iota?
0:31:59 > 0:32:02I mean, there was always the risk of there being something
0:32:02 > 0:32:04that we didn't even know about.
0:32:04 > 0:32:07And you were curious about that as opposed to worried?
0:32:09 > 0:32:13So, whilst there won't be any new plexiforms growing,
0:32:13 > 0:32:18nerves can still thicken and tumours can still grow.
0:32:18 > 0:32:22So, it's a case of keeping on top of it, and continuing to monitor it.
0:32:24 > 0:32:27Do I have control over my condition?
0:32:27 > 0:32:29None whatsoever.
0:32:39 > 0:32:42Hello! I was beginning to wonder if I was ever going to see you again.
0:32:42 > 0:32:45Really? Yeah. Sorry to disappoint you.
0:32:46 > 0:32:48How you doing?
0:32:57 > 0:33:03Our trip to Belgium confirmed Neil and I had a few years left in us yet.
0:33:03 > 0:33:07But it didn't explain why my disfigurement was so severe.
0:33:09 > 0:33:10In 31 years,
0:33:10 > 0:33:14no doctor I'd met had ever seen a face as badly affected as mine.
0:33:21 > 0:33:25I get an appointment at Manchester's NF1 centre with top geneticist
0:33:25 > 0:33:26Dr Sue Huson.
0:33:28 > 0:33:30Maybe she can sort my face out.
0:33:31 > 0:33:33So, do you have any photos with you?
0:33:33 > 0:33:35I do. Yes.
0:33:35 > 0:33:38OK. Right. That's pre-NF.
0:33:38 > 0:33:40Yeah. So, who's who here?
0:33:40 > 0:33:41I've got no frigging idea.
0:33:41 > 0:33:42Right. OK.
0:33:44 > 0:33:48I'm just beginning to think that the left side of your face
0:33:48 > 0:33:51at that stage... You're beginning to pick up
0:33:51 > 0:33:53a bit of thickening and asymmetry.
0:33:53 > 0:33:56Yeah. Have you got one about eight or nine?
0:33:56 > 0:34:00Ah, right. So then it really took off, didn't it?
0:34:00 > 0:34:05Yeah. Can you see there that it is very specifically worse
0:34:05 > 0:34:07on the left side of your face?
0:34:07 > 0:34:11Yeah. And now I've spent more time with you,
0:34:11 > 0:34:15I can see that here it's the lower half that's worse.
0:34:15 > 0:34:19Yeah. And here, it's the upper half.
0:34:19 > 0:34:25Where you are an NF puzzle is I've never seen anybody in my clinic
0:34:25 > 0:34:30who's been unlucky enough to have both sides of the face involved.
0:34:30 > 0:34:33So, what I kind of want to know as a geneticist,
0:34:33 > 0:34:36and why I keep looking at your face in detail,
0:34:36 > 0:34:41is did Adam have two events
0:34:41 > 0:34:46or is there some way that your whole face has the same genetic change?
0:34:46 > 0:34:48Does that make sense?
0:34:48 > 0:34:53Oh, yeah. So, I don't know how far you want to take this,
0:34:53 > 0:34:58but one possibility would be if you had a piece of tissue taken
0:34:58 > 0:35:04from both sides that we could then look at the NF1 gene,
0:35:04 > 0:35:09and my prediction is you were just the one in 40,000th person
0:35:09 > 0:35:12who was unlucky enough to get
0:35:12 > 0:35:16two hits during the development in the womb.
0:35:18 > 0:35:23So, I am an NF god, to all intents and purposes.
0:35:23 > 0:35:25You've been really, really unlucky.
0:35:25 > 0:35:26Yeah.
0:35:40 > 0:35:44My impression has always been that I've always had one fibroma
0:35:44 > 0:35:48that has just grown over across my whole face,
0:35:48 > 0:35:54whereas she thinks I've had two separate mutations,
0:35:54 > 0:35:57here and here,
0:35:57 > 0:36:01which goes from the one in 2,000 to the one in 40,000,
0:36:01 > 0:36:04and it happens developmentally.
0:36:06 > 0:36:12But the only way to know that for sure is to biopsy...
0:36:12 > 0:36:15both areas
0:36:15 > 0:36:20and see if the genetic coding in the cultures is different.
0:36:29 > 0:36:33If Sue's correct, not only did I get mutations on the left side,
0:36:33 > 0:36:37but also the right, causing my face to grow out of control.
0:36:39 > 0:36:43What's really odd is that neither of our parents have the disease -
0:36:43 > 0:36:45all our mutations are spontaneous,
0:36:45 > 0:36:49which means they've happened for the first time.
0:36:49 > 0:36:51Thanks, genetics.
0:36:51 > 0:36:53This was child's play.
0:36:55 > 0:36:56This was child's play(!)
0:36:56 > 0:36:59I look like Hannibal Lecter's had a bit of a go.
0:36:59 > 0:37:01You look more handsome than you did before.
0:37:01 > 0:37:04Well, that was a backhanded compliment if I ever heard one, Simon.
0:37:04 > 0:37:06LAUGHTER
0:37:11 > 0:37:13Of all the doctors we'd met,
0:37:13 > 0:37:17not one of them had seen symptoms as extreme as ours,
0:37:17 > 0:37:21which is really cool, but very frustrating.
0:37:21 > 0:37:22Mr Adam, yeah? Yes.
0:37:22 > 0:37:25So I have decided to go on another adventure...
0:37:25 > 0:37:27without Neil.
0:37:29 > 0:37:33Parts of Vietnam have unusually high levels of genetic disease,
0:37:33 > 0:37:37and some of the worst cases of NF1 in the world.
0:37:37 > 0:37:38First on the plane.
0:37:38 > 0:37:40'But does anyone know why?'
0:37:41 > 0:37:43'And can I find a case as bad as ours?'
0:38:09 > 0:38:12Hanoi is not a place for the partially sighted.
0:38:12 > 0:38:14We're crossing, we're crossing!
0:38:14 > 0:38:16HORNS BLARE
0:38:16 > 0:38:19Oh, we made it, we made it!
0:38:19 > 0:38:22It's also a very long way from Croydon.
0:38:22 > 0:38:24Good morning, Vietnam.
0:38:29 > 0:38:33Neil would die out here.
0:38:33 > 0:38:36They don't have McDonalds or Nando's.
0:38:36 > 0:38:40He would die of hunger, if dysentery didn't get a hold of him first.
0:38:50 > 0:38:54I head to a rural area just outside the city where I'm joined by Zach,
0:38:54 > 0:38:56a local guide.
0:38:59 > 0:39:02He agreed to help me look for people with NF1,
0:39:02 > 0:39:05and took me straight to a man with extreme symptoms.
0:39:11 > 0:39:15Like me, his tumours have grown out of control.
0:39:15 > 0:39:18But here in Vietnam, he wasn't alone.
0:39:23 > 0:39:26In recent years, parts of this country have seen a huge increase
0:39:26 > 0:39:29in genetic diseases like NF1,
0:39:29 > 0:39:33and many believe the cause of this goes back 40 years.
0:39:37 > 0:39:42Between '61 and '71, Vietnam was subject to intense chemical warfare.
0:39:42 > 0:39:46The American military dropped around 80 million litres of Agent Orange,
0:39:46 > 0:39:50a herbicide designed to clear jungle and expose the enemy.
0:39:51 > 0:39:55But this chemical was thought to be one of the most toxic ever made
0:39:55 > 0:39:58by man, and countless were exposed to high levels.
0:40:01 > 0:40:03It's been hard to prove,
0:40:03 > 0:40:06and scientists across the world are still arguing,
0:40:06 > 0:40:10but Agent Orange is suspected by many to cause gene mutations.
0:40:12 > 0:40:14Looking at this right now, Zach,
0:40:14 > 0:40:18it makes a lot of sense how this can get into the human body.
0:40:19 > 0:40:22They dropped the chemical, it goes into the ground,
0:40:22 > 0:40:27which goes into the crops, which goes into our food, which goes into our...
0:40:27 > 0:40:29our bodies.
0:40:30 > 0:40:31It's crazy.
0:40:34 > 0:40:39Once genes mutate, the effects can be passed on through generations,
0:40:39 > 0:40:43but no-one here seems to know for how long these effects could be felt.
0:40:49 > 0:40:52I head to the largest surgical hospital in the country
0:40:52 > 0:40:55to meet Vietnam's top plastic surgeon.
0:40:55 > 0:40:58How are you doing? Pleased to meet you. Very nice to meet you.
0:40:58 > 0:41:00Adam. Adam. Pleasure.
0:41:06 > 0:41:08I bring you to my department.
0:41:08 > 0:41:11If I lived here, this is the man that would cut my face open.
0:41:13 > 0:41:16Do you have many patients with neurofibromatosis?
0:41:16 > 0:41:19Yes, I see more and more patients
0:41:19 > 0:41:22with neurofibromatosis.
0:41:22 > 0:41:24I always... I have 40 beds,
0:41:24 > 0:41:27but I always have patients on the waiting list,
0:41:27 > 0:41:30more than the number of patients I can do the surgery.
0:41:30 > 0:41:33So, patients need to wait a long time to have surgery.
0:41:33 > 0:41:36Have you ever met someone with a face like mine, with NF?
0:41:36 > 0:41:39We see patients sometimes with...
0:41:41 > 0:41:43..more severe than you,
0:41:43 > 0:41:47and these people can have only one or two surgeries.
0:41:47 > 0:41:50I think that you have a lot of surgery.
0:41:50 > 0:41:54How many surgeries have you had in the UK? 31.
0:41:54 > 0:41:5531 surgeries!
0:41:55 > 0:41:58Mm-hmm. But in Vietnam, my patients,
0:41:58 > 0:42:02they can have only one or two or three surgeries for all their life.
0:42:02 > 0:42:04It is also an economic problem.
0:42:07 > 0:42:10The doctor showed me examples of tumours he'd removed
0:42:10 > 0:42:14from NF1 patients, some weighing as much as a small child.
0:42:15 > 0:42:17But, as I know from experience,
0:42:17 > 0:42:20surgery doesn't stop them growing back.
0:42:22 > 0:42:27My question is, do you know that there's any medicine or drug?
0:42:27 > 0:42:32Or we need to put the doctor and scientist together
0:42:32 > 0:42:35and try to invent some drug or something,
0:42:35 > 0:42:40where they can slow down or make this develop slowly,
0:42:40 > 0:42:42or stop developing. Yeah.
0:42:42 > 0:42:46So, if there was a drug that could shrink the size of tumours,
0:42:46 > 0:42:49that would make a big difference to you and your patients, wouldn't it?
0:42:49 > 0:42:53I think that we always dream about this kind of drug.
0:42:58 > 0:43:04If there's a pill out there that can reduce the symptoms of NF
0:43:04 > 0:43:09and it works and it's safe and, by some way, shape or form,
0:43:09 > 0:43:11I can bring it here to Vietnam,
0:43:11 > 0:43:14that's something I'm definitely up for doing.
0:43:26 > 0:43:29Danang to the south was an area heavily sprayed with Agent Orange
0:43:29 > 0:43:30during the war.
0:43:35 > 0:43:39I was taken by Zach to one of a tiny number of centres built to provide
0:43:39 > 0:43:43care and education for children with genetic diseases.
0:43:45 > 0:43:48The centre provides respite for the many descendants of
0:43:48 > 0:43:52military personnel who were exposed to the toxin during the war.
0:43:53 > 0:43:55Without their support, families would struggle alone.
0:43:59 > 0:44:02I was introduced to a mother and her disabled children,
0:44:02 > 0:44:04who are now in their 40s.
0:44:07 > 0:44:11Her husband served the Army,
0:44:11 > 0:44:15and the husband was exposed to the Agent Orange during wartime.
0:44:15 > 0:44:20They gave birth to one son and one daughter and they are all
0:44:20 > 0:44:26Agent Orange victims. She by herself took care of two children for more
0:44:26 > 0:44:31than 40 years already, by herself, because the husband died already.
0:44:31 > 0:44:33She is always smiling.
0:44:33 > 0:44:37Since she met me, she always smiles, very lovely smile.
0:44:38 > 0:44:42When we asked her, "What is your big dream?"
0:44:42 > 0:44:46She said that when she dies, there is someone that can bury her.
0:45:03 > 0:45:06We were about to leave the centre
0:45:06 > 0:45:09when Zach introduced me to a girl called Ding.
0:45:09 > 0:45:12Like me, she also had NF1.
0:45:12 > 0:45:15Her facial disfigurement was nowhere near as bad,
0:45:15 > 0:45:18but something about her didn't seem right.
0:45:18 > 0:45:23And how does your NF1 affect you on a day-to-day basis?
0:45:26 > 0:45:29THEY SPEAK VIETNAMESE
0:45:31 > 0:45:35She has no idea, because she could not remember anything.
0:45:35 > 0:45:37She struggles to remember things?
0:45:37 > 0:45:41When she was born, she was totally normal,
0:45:41 > 0:45:46but year by year she started to lose and had trouble with memory,
0:45:46 > 0:45:51so she stopped going to school and the family took her to the centre.
0:45:51 > 0:45:53So, there was no accident,
0:45:53 > 0:45:56no event in her life that could have triggered this memory loss?
0:45:56 > 0:45:58It just came on?
0:46:03 > 0:46:09She had no accident or unexpected happening in her life.
0:46:09 > 0:46:16The tumours and the symptoms of this is exposed very naturally.
0:46:23 > 0:46:25So, after...
0:46:25 > 0:46:3015, 16 years of looking, I've finally found someone like Neil.
0:46:32 > 0:46:36It also means I know where to bring Neil to live when Mum dies.
0:46:39 > 0:46:43I thought I understood what it meant to have NF1,
0:46:43 > 0:46:47but coming here has taught me that genetic diseases can affect us
0:46:47 > 0:46:51very differently, depending on where we live.
0:46:51 > 0:46:56Here, you're lucky to get a diagnosis, let alone treatment.
0:47:06 > 0:47:09Do you remember when Adam got back?
0:47:09 > 0:47:11He got back at the weekend.
0:47:11 > 0:47:14I think he got back on Saturday.
0:47:14 > 0:47:16But he... No?
0:47:16 > 0:47:18Friday.
0:47:18 > 0:47:19Sunday. There we go!
0:47:19 > 0:47:21He got back on Sunday.
0:47:21 > 0:47:23We're going to get there eventually.
0:47:26 > 0:47:30I think if we'd have been born in Vietnam,
0:47:30 > 0:47:31life would be very different.
0:47:38 > 0:47:39Very, very different.
0:47:43 > 0:47:46There was a moment when a doctor said to me that he wishes
0:47:46 > 0:47:52there was a pill that patients could take and it would stop the tumours
0:47:52 > 0:47:55growing or slow the growth down or make them smaller,
0:47:55 > 0:47:59and there is a pill like that being trialled in America.
0:48:00 > 0:48:03The trial is NF-specific.
0:48:03 > 0:48:04OK.
0:48:08 > 0:48:10Do you think it's a good idea?
0:48:10 > 0:48:12I think it's worth looking into.
0:48:12 > 0:48:15So, yes? Yes. There we go. Yeah.
0:48:25 > 0:48:27When I returned from Vietnam,
0:48:27 > 0:48:29my surgeon told me about a drug being trialled
0:48:29 > 0:48:32that was shrinking tumours in NF patients.
0:48:34 > 0:48:36If true, it's a game changer.
0:48:39 > 0:48:44I travelled to Maryland, USA, to meet the mastermind behind it,
0:48:44 > 0:48:49Dr Brigitte Widemann at the National Cancer Institute.
0:48:49 > 0:48:54We've done clinical trials for NF1 plexiform neurofibromas,
0:48:54 > 0:48:57that I think is the type of tumour that you have,
0:48:57 > 0:48:59for more than 15 years.
0:48:59 > 0:49:04And our goal has always been to see if we could either stop tumours
0:49:04 > 0:49:07from growing or, ideally, even shrink them.
0:49:07 > 0:49:11And we have now completed the analysis,
0:49:11 > 0:49:17and more than 50% of the patients had what we call a partial response.
0:49:17 > 0:49:22Partial response means clear, measurable shrinkage,
0:49:22 > 0:49:24and this has actually been sustained,
0:49:24 > 0:49:28meaning the tumours haven't re-grown in most of the patients.
0:49:28 > 0:49:32Do you have the sense that your plexiform neurofibroma is stable,
0:49:32 > 0:49:35meaning not changing at this time? Is it growing?
0:49:35 > 0:49:38Yeah, no, they're growing, still.
0:49:38 > 0:49:41I've also got a fibroma on the back of my neck.
0:49:41 > 0:49:43I've got one under my arm.
0:49:43 > 0:49:47Yeah. Would I be able to take part in your trial?
0:49:47 > 0:49:51And does the fact that I'm slightly famous back in the UK
0:49:51 > 0:49:52mean I can jump the list?
0:49:52 > 0:49:56Or do I have to wait? Probably not. Oh, right. Probably not.
0:49:56 > 0:49:59What is the point of being famous?
0:49:59 > 0:50:01So, but...
0:50:01 > 0:50:05This is one that potentially you could participate in.
0:50:05 > 0:50:09Yeah. Now, what is the outcome that you would desire
0:50:09 > 0:50:12if you were to go on a study?
0:50:12 > 0:50:18Well, I think any kind of fibroma shrinkage is a good thing. Mm-hmm.
0:50:18 > 0:50:23And I've had 32 surgeries, and I'm going to be having an operation
0:50:23 > 0:50:28on my eyelid to open the eye a bit more. Yeah, yeah.
0:50:28 > 0:50:34And so, any alternative I could have to a knife going near my eye is...
0:50:34 > 0:50:37a good thing. Yeah. How much meaningful vision...?
0:50:37 > 0:50:40Do you have completely normal vision in your eye at this point?
0:50:40 > 0:50:44So, I'm blind in one eye, and I'm partially sighted in the other.
0:50:44 > 0:50:47OK. These agents can have
0:50:47 > 0:50:50at least potential toxicities to the eye,
0:50:50 > 0:50:53so we would want to monitor that extremely closely.
0:50:53 > 0:50:55There can be retinal detachment,
0:50:55 > 0:50:59meaning detachment of the retina which could lead to vision loss,
0:50:59 > 0:51:02potentially. We have not seen this at all,
0:51:02 > 0:51:05but all of our patients get serial eye exams over time.
0:51:07 > 0:51:09Where does that leave you, Adam?
0:51:09 > 0:51:11I...
0:51:11 > 0:51:13I don't know.
0:51:13 > 0:51:14Huh.
0:51:21 > 0:51:24I was introduced to five-year-old Paige,
0:51:24 > 0:51:27who'd already been on a trial a few months.
0:51:27 > 0:51:31Why don't you sit over here, Adam, because you could see... Over here?
0:51:31 > 0:51:35If you could hold it up maybe next to Paige and you could get an idea.
0:51:35 > 0:51:37Yeah.
0:51:37 > 0:51:39There is a real reduction there.
0:51:39 > 0:51:43Paige's eye is a lot more closed in the "before" photo,
0:51:43 > 0:51:46which is very similar to mine.
0:51:46 > 0:51:50I have a restricted aperture in my eye.
0:51:50 > 0:51:53Our big concern was that the tumour was to her tonsils,
0:51:53 > 0:51:57so keeping her airway open was a huge concern.
0:51:57 > 0:51:59And since it's now stopped growing,
0:51:59 > 0:52:02and not only stopped growing but has reduction already,
0:52:02 > 0:52:05that is a big relief knowing that her airway is good.
0:52:05 > 0:52:08Her ear was pretty much closed, which caused a lot of problems,
0:52:08 > 0:52:11and now it's open all by itself,
0:52:11 > 0:52:15and we haven't had an ear infection since.
0:52:15 > 0:52:18Great. OK, Adam, going to fist-bump goodbye?
0:52:18 > 0:52:20Yeah.
0:52:20 > 0:52:22Yes, we got it on camera!
0:52:22 > 0:52:23That happened.
0:52:23 > 0:52:27That happened. Thank you, Adam. Very nice to meet you. Yeah, here.
0:52:27 > 0:52:30All right, we're a family then.
0:52:38 > 0:52:41Can you imagine the significance of this drug being available
0:52:41 > 0:52:42in places like Vietnam?
0:52:45 > 0:52:48Them going from not knowing what they're treating or how to treat it
0:52:48 > 0:52:51to being able just to prescribe a pill.
0:52:51 > 0:52:53That's world-changing.
0:52:55 > 0:52:57Just being able to say to the doctor,
0:52:57 > 0:53:01"You know you said you wanted a pill that could help patients with NF...
0:53:01 > 0:53:03"Here it is."
0:53:12 > 0:53:16The reason it's so game-changing is, up until now,
0:53:16 > 0:53:20the only option for people with NF1, medically,
0:53:20 > 0:53:23has been surgical intervention.
0:53:23 > 0:53:28The biggest dilemma for me, by far,
0:53:28 > 0:53:33is one of the possible side effects of this drug is retinal detachment.
0:53:36 > 0:53:38That's the biggest catch-22 out of all of them.
0:53:38 > 0:53:41It can improve my eyesight or it could make it...
0:53:41 > 0:53:42make it worse.
0:53:44 > 0:53:47What are you going to tell your mum and Neil?
0:53:48 > 0:53:52I'm going to tell them about the drugs trial,
0:53:52 > 0:53:56run through what was discussed with me by Dr Widemann,
0:53:56 > 0:53:59and tell them I'm seriously considering enrolling.
0:54:11 > 0:54:15Back in London, I take Neil to the NF clinic at Guy's Hospital
0:54:15 > 0:54:17for the results of his brain scan.
0:54:18 > 0:54:20Does he actually have one?
0:54:20 > 0:54:23And if so, what happened to his memory?
0:54:29 > 0:54:32So would you like to see what we found?
0:54:32 > 0:54:35Yes, please. I can show you some pictures. OK.
0:54:35 > 0:54:37We had a look at the hippocampus again.
0:54:37 > 0:54:42Remember that's the part of the brain that is particularly involved
0:54:42 > 0:54:46in memory. And it's a little bit like we've sliced you,
0:54:46 > 0:54:48coming this way, OK.
0:54:48 > 0:54:53But if you look here, right and left, can you see that area?
0:54:53 > 0:54:58Both sides look rather bright compared with elsewhere.
0:54:59 > 0:55:01What do we think is happening?
0:55:01 > 0:55:05Well, normally the brain forms in different layers,
0:55:05 > 0:55:09and it may be that the cells go to the wrong layer,
0:55:09 > 0:55:13so it's a sort of difference in formation of the brain.
0:55:13 > 0:55:16Now, I look after a lot of adults.
0:55:16 > 0:55:20Most of the people that we see with these bright hippocampi
0:55:20 > 0:55:22don't have any symptoms.
0:55:22 > 0:55:24Sorry, so...
0:55:24 > 0:55:28Are we saying that there might not be any relation
0:55:28 > 0:55:31between the NF1 and the memory problem?
0:55:31 > 0:55:33We don't think so, because we think,
0:55:33 > 0:55:38from the clinical information that we gleaned all those years ago,
0:55:38 > 0:55:43they felt that you had this sort of inflammation
0:55:43 > 0:55:47due to a virus called encephalitis. Yeah.
0:55:47 > 0:55:51And it seemed that the memory problem stemmed from that time.
0:55:51 > 0:55:55So, are we saying that Neil's memory loss was caused by an infection?
0:55:55 > 0:55:59Well, I think that's going to be my best conclusion at this moment.
0:55:59 > 0:56:03Yeah. Is there a chance I could lose my memory?
0:56:03 > 0:56:09I don't think that anything that we've seen in Neil
0:56:09 > 0:56:12will relate to you, so...
0:56:12 > 0:56:14Apart from normal ageing,
0:56:14 > 0:56:16I think your memory will be the same as it is now.
0:56:19 > 0:56:23One less thing for me to worry about.
0:56:23 > 0:56:26I guess this means I have to keep writing "to do" lists for Neil.
0:56:26 > 0:56:29At least he's unlikely to get any worse.
0:56:31 > 0:56:35As for me, the biopsy results weren't as expected,
0:56:35 > 0:56:39showing the same secondary mutation on both sides of my face.
0:56:41 > 0:56:44This challenges current thinking as to when these events occur.
0:56:44 > 0:56:49In my case, much earlier in the womb, after Neil and I split,
0:56:49 > 0:56:53but before my face was divided into left and right,
0:56:53 > 0:56:55making me kind of amazing.
0:56:56 > 0:56:59Of course, knowing this doesn't stop my tumours from growing,
0:56:59 > 0:57:03or my sight from getting any worse.
0:57:03 > 0:57:08And until I can get on the American drugs trial, I have only one option -
0:57:08 > 0:57:09surgery.
0:57:13 > 0:57:17If I lost my sight, I'd make it work.
0:57:17 > 0:57:22I didn't get this far by quitting at the first sign of adversity,
0:57:22 > 0:57:26so this would just be another thing to kick its arse.
0:57:28 > 0:57:31I'm assuming this will come down a lot as well.
0:57:31 > 0:57:34Yeah. There's a lot of space that's filled up with fluid.
0:57:34 > 0:57:35Oh, thank you. Very happy.
0:57:37 > 0:57:38Job done.
0:57:45 > 0:57:47Fast forward 30 years from now...
0:57:47 > 0:57:49Yeah. What do things look like?
0:57:49 > 0:57:52I don't want to think about that.
0:57:52 > 0:57:54That's scary.
0:57:54 > 0:57:58I've got to manage to hold my shit together for another 30 years.
0:58:00 > 0:58:03What would you like your future to look like?
0:58:03 > 0:58:06Move out, get married, get a dog.
0:58:06 > 0:58:08Because that's practice for having kids.
0:58:08 > 0:58:10Then have kids.
0:58:12 > 0:58:14How about you, Neil?
0:58:14 > 0:58:16Um...
0:58:16 > 0:58:19I don't really like to plan too far ahead.
0:58:19 > 0:58:22I like to set short goals.
0:58:22 > 0:58:25And then, once they've been achieved,
0:58:25 > 0:58:28review the situation and set another short goal.
0:58:31 > 0:58:34There's no stopping neurofibromatosis -
0:58:34 > 0:58:37it's a law unto itself.
0:58:37 > 0:58:40But no matter what the future holds, we'll deal with it...
0:58:41 > 0:58:43..together.
0:59:11 > 0:59:13Watch this. It is amazing.