00:00 One in 70 million people have my condition.
00:02 I have an ultra-rare condition called Lowest Duke Syndrome.
00:05 Many of my organs have now either not formed properly
00:08 or have started shutting down.
00:10 The average life expectancy for somebody with my condition
00:13 is 36 years old.
00:14 It could happen tomorrow, it could happen in five, six years,
00:18 and it will happen out of the blue.
00:20 I think I've given up on the prospect of
00:22 everything is going to be fine.
00:23 So my alarm goes off at 6.45 in the morning,
00:29 every single morning,
00:30 which tells me that my blood infusion has finished.
00:33 I have an ultra-rare condition called Lowest Duke Syndrome,
00:37 or LDS for short.
00:38 It causes a lot of pain, chronic pain.
00:40 It makes me incredibly tired
00:42 and also I'm incredibly susceptible
00:44 to various different illnesses.
00:45 Many of my organs have now either not formed properly
00:48 or have started shutting down.
00:51 So I had a Hickman line fitted four years ago now.
00:53 So it goes in through your chest,
00:56 up into your jugular, and then down into your aorta.
00:58 So it's like a permanent cannula.
01:00 My body wasn't able to push food
01:01 through my intestinal system properly.
01:04 So I haven't had anything to eat or drink
01:05 in about four years now.
01:07 So what I'm disconnecting from is called TPN,
01:10 which is total parental nutrition.
01:12 So everything I need to survive, food, water, calories,
01:16 nutrients, vitamins, is in these bags.
01:19 You can feel it going in a little bit through your system.
01:21 You kind of feel that pressure coming through,
01:23 but it's not painful at all.
01:24 Obviously it's a open line into your heart.
01:28 So I have to be incredibly sterile,
01:30 make sure that my house is always incredibly clean,
01:32 'cause it can be something as small as a piece of dust
01:35 that gets in there, which could be fatal.
01:38 So whenever I'm out, I have to set various alarms.
01:41 I haven't had a lion in about four years
01:43 'cause I have to get up at the same time every single day.
01:45 I feel incredibly frustrated
01:47 because I'm in my young 20s
01:50 and there's so many things that I can't do in my life
01:53 that I wish I could do
01:54 and I don't have the energy to do anymore.
01:57 So when doctors are talking to me about progression,
02:00 it's very, very difficult for them to do.
02:02 Because the condition is so rare,
02:04 it's about one in every 70 million people that have it,
02:07 the one definite that I do know
02:09 is an aortic dissection is what's going to kill me,
02:12 which is where, very unpleasantly,
02:14 your aorta detaches itself from your heart.
02:17 It could happen tomorrow, it could happen in five, six years,
02:21 it could happen, I don't know,
02:22 and it will happen out of the blue.
02:24 I've had to become quite inventive.
02:27 About making sure that I don't perceive my life as difficult.
02:30 It will always be difficult,
02:32 but I just kind of have to lie to myself and say,
02:35 yes, this is difficult,
02:36 but we've still got to find a way to do things and crack on.
02:39 So when I leave the house,
02:41 I need to make sure that I have emergency supplies with me,
02:44 my blood sugar monitor, my blood pressure monitor,
02:47 and then I always set my alarm before I leave
02:49 so I'm always back in time
02:50 to make sure that I can do my infusion on time.
02:55 Both me and my brother inherited LDS from my dad.
02:58 Hello, darling. Hello.
03:01 Even though my dad's symptoms are very different from mine,
03:05 kind of the problem at ages
03:07 seemed to be very similar to him
03:09 of where he really, really struggled in his life.
03:12 Look what I found the other day, darling,
03:14 when I was having you clear up in the cupboard.
03:17 You were two.
03:19 Were my alarm bells going when she was born?
03:22 Absolutely not, no.
03:23 She was big, chubby-cheeked, and everything else.
03:27 No, there was no hint whatsoever in the early years
03:30 as to what was to come.
03:32 It was when she went through the geneticist
03:34 that she got the diagnosis,
03:36 but before that, we were just always down the doctors
03:39 or at the hospital.
03:40 I was always sick and I was always hurting myself.
03:44 Those were probably the first signs, weren't they?
03:46 The hard bit, I think, for Mum and I
03:49 was really knowing all along.
03:52 We suspected from a very early stage
03:55 that her life was going to be different.
03:57 My dad and I have spoken a little bit
03:59 about how he feels about the fact
04:01 that I inherited it from him,
04:04 and I know that he feels guilty.
04:06 I think he finds it quite difficult sometimes
04:08 to even look at me,
04:09 because I think he finds it quite emotional,
04:11 because I think sometimes he thinks it's his fault,
04:13 but it's not his fault at all.
04:15 I am the gift that keeps on giving.
04:16 Yeah, yeah.
04:17 That's the problem.
04:18 I know exactly where it's come from.
04:21 We try and we joke about it
04:23 and saying that I am the gift that keeps on giving,
04:26 but that is like sort of nervous laughter.
04:28 I really...
04:32 Yeah, you find it difficult, don't you?
04:35 I find it difficult, very, very difficult indeed, yeah.
04:38 My mum has coped brilliantly.
04:40 Externally, she has been incredible,
04:43 but I know on the inside,
04:46 it must be incredibly draining
04:48 and also incredibly painful
04:49 to see the people she loves suffering so much,
04:53 and she doesn't let that show,
04:54 and I think that's such a massive strength in itself.
04:57 Our way of dealing with the darker times
05:00 is to turn them into more lighthearted moments,
05:02 if we can,
05:03 and of course, dare I say it,
05:05 there's another member of the family with James.
05:06 I mean, you're married now, you've got a husband,
05:08 so that has changed the dynamic a bit.
05:11 I met my husband when actually we both lived in London.
05:14 He was incredible when I first mentioned my condition.
05:17 Traditionally, the response that I get is,
05:19 "Oh my God, okay,"
05:22 and then people panic.
05:23 He was very calm about the whole thing
05:25 and very, "Oh, okay, what is that?
05:28 "Talk to me about it, tell me about it."
05:30 I can't imagine what it's like
05:31 for James constantly thinking about,
05:32 "What am I gonna do in such early life
05:35 "if my wife passes away?"
05:36 I think as a couple, we're just finding our rhythm,
05:39 and this is just the way it is.
05:41 We're not gonna try and change it
05:42 because we can't try and change it,
05:44 so let's just get on with it.
05:45 All you want for your children is to be happy,
05:49 so for me, the fact that she found James
05:53 makes me feel a lot better about it.
05:56 I think I've given up on the prospect
05:58 of everything is going to be fine.
06:00 Like, one day, they'll find a way to fix me.
06:02 One day, I'll eat something again.
06:05 One day, one day.
06:06 I think for me, it's just about,
06:07 this is the situation, find a way to be comfortable with it
06:11 and actually use it to my advantage in a way,
06:13 like the job I'm doing now.
06:14 I wouldn't be doing that if it wasn't for this situation,
06:16 so actually, in a way,
06:17 I do have something to be grateful for.
06:19 I'm a founder and investor, and I'm a policy advocate,
06:22 so I work with government to change legislation
06:24 to make it more accessible and inclusive for disabled people.
06:27 If one in four people are disabled,
06:29 why are we not talking about this more regularly?
06:32 What I marvel at is the achievement.
06:35 What she has achieved and what she can do and does do
06:40 really is quite astonishing under the circumstances.
06:44 I don't want to kind of reach the end of my life
06:46 and think, "Well, it wasn't really worth it, was it?
06:49 "It was so painful and it was so awful,"
06:51 but I also hope to kind of leave,
06:53 even if it's a little mark on the world,
06:55 to say, "I was here, and I hope I made a difference."
06:59 I'm always proud of her.
07:01 She's amazing.
07:02 She gets up every day, and she gets on with it.
07:04 The fact that we're sitting here talking about her
07:07 is her greatest achievement.
07:08 Oh, what's that?
07:09 That's my alarm.
07:10 What alarm? It's time to go home.
07:11 Right, I know, I know, I know.
07:13 I get it.
07:14 Bye.
07:15 I want people to take away from my story
07:17 kindness and empathy towards other people.
07:21 Chronic pain and chronic fatigue
07:22 for your entire life takes its toll on you.
07:26 We need to make sure that we are profiling rare diseases.
07:29 One of the reasons that they're rare
07:31 is 'cause people don't know about them.
07:32 I wish that people had a little bit more proactiveness
07:35 to go out there and kind of educate themselves
07:37 on things like this, 'cause you might be able
07:38 to help a friend or a family member,
07:40 or even if you're in the medical profession,
07:42 you may save a life.
07:43 Imagine doing this every day.
07:46 If you do meet somebody that has a rare condition
07:49 and they are voluntarily speaking about it,
07:52 ask questions, be insightful, be respectful, and be kind.
07:56 (gentle music)
07:59 (gentle music)
08:01 (gentle music)
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