- 3 months ago
00:00 - Introduction
01:28 - Anja & VACTERL Association
07:55 - Ashely & Nager Syndrome
16:28 - Abby & Fibrous Dysplasia and Mccune Albright
23:50 - Nyla & Ullrich Muscular Dystrophy
30:57 - Dylan & MDP Syndrome
36:02 - Kiersten & Friedreich's Ataxia
44:33 - Alexandra & Williams Syndrome
52:09 - Christopher & Thanatophoric Dysplasia Type 2
01:28 - Anja & VACTERL Association
07:55 - Ashely & Nager Syndrome
16:28 - Abby & Fibrous Dysplasia and Mccune Albright
23:50 - Nyla & Ullrich Muscular Dystrophy
30:57 - Dylan & MDP Syndrome
36:02 - Kiersten & Friedreich's Ataxia
44:33 - Alexandra & Williams Syndrome
52:09 - Christopher & Thanatophoric Dysplasia Type 2
Category
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FunTranscript
00:00On the outside I look like a typical woman. On the inside you can see that I definitely am not.
00:06I have two uteruses and one ovary. Most people have a rectum. I don't actually have one of those.
00:12I was born with major syndrome. My condition is super rare.
00:17Before I know there are only running three known cancers in the world.
00:23A dentist drilled my tooth and now I'm one in a trillion.
00:28My ultra rare condition makes my face swell and change shape.
00:33I was born with oaric muscular dystrophy and I'm the only one in South Carolina with my disease.
00:38At the time of my diagnosis I was the number 96 in the whole world to have it.
00:41My condition called NDP syndrome is only known to affect me and 15 other people worldwide.
00:50I'm not drunk. I have a rare condition. I am gradually losing control of my muscles over time.
00:57My rare condition means I love everyone.
01:01Williams syndrome is a super rare genetic condition characterized by cognitive and developmental issues and highly social personalities.
01:10I feel this person in the world like they said that I was going to die at the Institute.
01:18Christopher was diagnosed with thanatophoric dysplasia type 2.
01:22It means death-bearing.
01:24The condition in and of itself already has a death sentence with it.
01:28The Vactual Association is an acronym that stands for vertebral, anal, cardiac, tracheal, esophageal and renal and limb abnormalities that
01:39affects 1 in 10,000 to 1 in 40,000 births.
01:43Each abnormality has affected me in a different way.
01:47So for the V for vertebral I have had hemivertebral which is partially formed vertebra, an extra lumbar vertebra which
01:54has made me extra tall, congenital scoliosis which is curvature of my spine but I've had sacral agenesis which is
02:02missing bones in the base of my spine.
02:04And that unfortunately has led to some missing nerves in my pelvis.
02:09I was actually born with a cloaca which is one single opening.
02:13So I had my urethra, two vaginas and my colon all coming into that one single opening.
02:19I actually can't have any indication of when I need to go to the bathroom.
02:23I was born with a hole in my heart so this was able to heal without any surgical intervention thankfully.
02:29I was first told about Anya's condition when I was 28 weeks pregnant and the midwife saw that I was
02:38growing faster than I should and that's always a worrying sign apparently and so she asked if I'd have an
02:47ultrasound so I went to have an ultrasound straight away and they couldn't find Anya's stomach.
02:55I thought wow that's pretty heavy, I thought you know the baby was going to die and they said look
03:01we've got somebody really good here who's a specialist in these sorts of things and he's on duty tomorrow.
03:07So he identified immediately that she had vactral association, she was taken over to surgery and went through about five
03:15hours of surgery on that very first day of life and for me as a mother it was very difficult
03:23to have your child whisked away.
03:26They joined my food pipe to my stomach, they disconnected it from my air pipe and that's when they actually
03:33made my colostomy and my vesicostomy so I could get waste out of my body.
03:38Without this surgery I basically would have died immediately and would have had no chance at survival.
03:42I had my reconstruction at seven months, they cut from front to back and made all three pelvic openings and
03:50then shortly after that I had my colostomy and my vesicostomy so those bags for the bowel and bladder, I
03:57had them reversed so I could actually start to function out of my pelvic openings.
04:02We had, I think, 50 admissions to hospital in those first four years of life. Every time she went in
04:09for surgery I would panic until I heard she was out.
04:15All of these surgeries that I had as a child had such a significant impact on me now because it
04:20meant that the chances of me having an abdominal surgery for anything made it so high risk.
04:25I met this absolutely incredible surgeon. He went in and divided all of those adhesions and removed this growth by,
04:33at this stage it was 10 by 13 centimetres.
04:36Moving forward to 2020 I had another surgery, a fun duplication. This is a surgery that they do for reflux
04:42so I've always had really bad reflux since I was a child.
04:45Unfortunately in this time I lost quite a significant amount of weight.
04:49Now I basically just eat everything orally and I'm just trying to eat as much as I possibly can so
04:56I can get that weight gain.
04:58I remember when she was little I said, you feel bad that you can't do a lot of things and
05:05she said, look, I can't wait until I'm well to do things so I just have to get on and
05:12do them.
05:12And I thought, wow, that's an amazing attitude. She was like seven or eight years old and she'd already decided
05:19that she just had to get on and have a life because she couldn't wait.
05:23I first decided I wanted to get into modelling when I was about 14 or 15 and I just saw
05:32that there was so much potential to represent my community.
05:35It was definitely difficult because my scars put up like an incredible barrier.
05:40I was first told that I was never going to be able to model to show my stomach with my
05:44scars and I was able to work really, really hard and persist and I was able to get to, you
05:51know, Amsterdam Fashion Week within a year of getting my first modelling contract.
05:55I've had some incidences unfortunately where I've actually passed out at shoots and really struggled and that really had nothing
06:02to do with the fact that I was modelling but more to do with the fact that I was running
06:06myself into the ground because I was pushing my body too far.
06:11You've always been by my side throughout all of it, you know, you've lived it with me, you really have
06:18and it's like I would not know what to do without you.
06:22I absolutely dedicate so much of that support to my mum.
06:26She taught me so much and especially, you know, about resilience and about, you know, my condition and that it
06:36was not something to be ashamed of.
06:38It was not some sad story.
06:40I felt equipped to transform, you know, a pretty crappy set of circumstances at times into something that is a
06:48really strong purpose in my life to drive forward, you know, positive change in the system from my lived experience.
06:55I started Champion Health Agency in May 2021.
06:58Champion Health Agency is a talent agency for lived experience that is impacting change across all sectors.
07:07At the moment, we represent 28 people.
07:10Most of them are in Australia and we've got one person in New Zealand and one person in England.
07:15They've all got such diverse and impactful stories.
07:19I was thinking about calling it, you know, like the health agency or the patient agency or something.
07:27And Champion kind of came, just stood out.
07:31We need to transform the way that we think of champions and think of champions as the people that make
07:35true change in our society.
07:37And I think that really should be people with lived experience.
07:40You can actually have a really successful and fulfilling life and, you know, have a huge impact on many other
07:47people's lives.
07:48And that you have a significant place in society, whether you have a disability or not.
07:56I have always been into dancing, but I just haven't found the right studio where I felt comfortable in.
08:05So I was scrolling on TikTok one day and I saw Rick.
08:09I just loved everything about him, his environment, his attitude, the way he runs his class. It was amazing.
08:19I've been doing it for going on three months now and I haven't stopped.
08:24I've been dancing constantly, ever since I started.
08:28I was very nervous putting myself out there.
08:31I didn't know how people were going to react to me physically.
08:36They were like, well, she can't do this, she can't do that.
08:39Hips and throw, head, head, cross, cross, open, open, scoop.
08:44It does take a certain amount of courage to show up for any dance class, to risk making mistakes, and
08:52to stand in front of a room and say, here I am just trying as best as I can.
08:56Ashley's body is built differently, so she's obviously going to have a different sense of balance.
09:01Knee, turn.
09:02But as she gains balance and gains her own footing, she's able to make the moves more of her own
09:09every single time that she executes.
09:11Sweet.
09:11Hell yeah.
09:12Hell yeah.
09:13Got it.
09:14Not back question.
09:24Either syndrome is a cranial facial deformity.
09:28If you're facing arms and heads, there's only fewer than a hundred kisses in the world.
09:35My arms are short, so there are things that cannot be for myself.
09:39I had to learn from figuring out ways to make it work for myself.
09:50So I wanted to reach open time, I would have to stay at another school.
09:55I just had to learn my thinking outside the box.
09:58I'd have to adapt to the outside world.
10:02When I was born, I didn't really have a draw.
10:06So I had to take bone from making parts of my head.
10:14And they implanted like a draw and then just extracted it to make it more outward.
10:22And then I had surgery on my tooth because I didn't have any tooth bones.
10:26So I had to implant those.
10:29And I had other facial fingers, other stomach fingers.
10:33And then I had surgery on my hands where they took both of my index fingers and they rotated them
10:41into my thumbs.
10:43It was challenging because I was really one who had a different room.
10:50So a lot of special nags for school, people making fun.
10:55They would call me names like two rats.
11:00And then really, really fun.
11:03Like I was trying every night.
11:06I just had a hard time.
11:09But I didn't let it affect my schooling.
11:11Growing up in the new world was a little bit tricky.
11:15There were a lot of times where people wouldn't really give me the chance to like get to know me
11:21or get to know them.
11:23And it just kind of hurt because it felt like they were judging me for how I look rather than
11:31trying to get to know who I am as a person.
11:34So that was a little tough.
11:36Matt!
11:38Hold on.
11:39What?
11:39Oh, we're ready for your hair now?
11:41Yeah.
11:42Okay.
11:43Me and Matt met online 14 years ago.
11:47We were best friends for a very long time.
11:51And then in 2019, we officially met in person for the first time.
11:57And then we've been dating ever since.
12:00Beautiful.
12:02He didn't really treat me like I was different.
12:07He treated me like a human being who could treat someone else.
12:11And that's what really got me attracted to Matt because he was so different from the other friends I had.
12:20He literally took me as a whole person.
12:24He'll help me with all kinds of stuff, really.
12:27I mean, he'll help me with everything if he can.
12:30I help Ashley with her hair, putting on her top if she needs help with her top.
12:35Just basic things that would require extension and height.
12:40So most, like the more physical aspect of me.
12:44I feel bad for Helen to ask him to help me all the time.
12:50But he doesn't seem to mind it still.
12:52It makes me feel better that I have someone like him to live and get mad if I have to
12:59have help.
13:00Everybody needs help in life.
13:01That's true.
13:02And it feels amazing to know that I have a significant other who supports me and what I want to
13:12do when I support him.
13:14So we're like partner time if you want to call it that.
13:19That is my life.
13:23It's very important.
13:26You want crushed ice or real ice?
13:29Crushed.
13:30Crushed ice it is.
13:35Got the big old fancy pours.
13:38Yeah.
13:39Saloon.
13:40Saloon.
13:42There are times where like me and Matt are out doing something or I'm doing something when I say, where
13:49people go spare.
13:52It gets me really frustrated.
13:54There's definitely times that she has to hold me back.
13:58Because if we're like at a grocery store and someone is just looking at her for no reason trying to
14:05judge her.
14:05I just ask if they got a steering problem or do we need like, you know, go out and talk
14:10somewhere.
14:12So I don't like it.
14:14At all.
14:15Comment or anything like that.
14:17It's mainly like on social media where people would make inappropriate comments and I don't really like it to me.
14:26Like I don't, I don't live in too much type of environment.
14:32So I'm just kind of throwing it off and let it go.
14:37People with physical disabilities can also do things.
14:44Even if it's actually a different way to make the mansion room happen.
14:50I feel like I'm going to kill a man when I'm dancing.
14:53I don't feel nothing.
14:55And I feel freedom.
14:56I feel the music.
14:58I don't feel nothing but music and dancing.
15:02I love when Ashley posts her dance routines on social media.
15:05I know she gets an outstanding response every single time.
15:08But what I love most about it is that she's continuing to take away excuses.
15:14Where other people come up with syndromes for themselves and say, I have two left feet.
15:20I can't dance.
15:21Ashley's standing up here with Neger syndrome and is doing it.
15:25She's executing the moves despite what limitations her body might give her.
15:30And by doing that, she's inspiring other people that are just like her.
15:34Other people that have bodies that are different than her.
15:36And people that might be self-conscious to show up for their first class.
15:43I feel like I needed to do that to show people, hey, this girl can do it.
15:49She's that Neger syndrome.
15:51If she can do it, I can do it.
15:54And that's the main reason why.
15:57I do like the fact that I was more different just because it's brought out so much confidence in me.
16:06And now it's just like a complete 360.
16:11I feel really unique when I know that there's less than 100 people that have my condition.
16:18But it just means that we're special.
16:21That we're one at a time.
16:23And I kind of like that.
16:29I always start off my day with a facial massage.
16:33That's the FD, the fibrous dysplasia.
16:36Which is bone.
16:37It is. It is bone.
16:39The name of my condition is fibrous dysplasia.
16:42I also have McCune-Albright syndrome.
16:45The lesions that grow on my bones, they are tumors, basically.
16:49It's overgrowth of bone.
16:51My cranial facial area is one of the most affected.
16:57Sometimes this bone right here, my muscle will tighten around it and it will become larger.
17:06And when it's large like that, it's harder to breathe.
17:09If I were to turn my head too hard, I could technically break my neck.
17:13And I have it in my 9th and 12th rib, tailbone, and lower vertebrae as well.
17:18I experience pain daily.
17:20Today, I'm feeling it a lot in my ribs and my tailbone and lower back.
17:25And then a little bit of pressure behind my eye.
17:29Doctors have been concerned about my eye.
17:33It is very possible that my eye will be pushed out of my socket.
17:38Due to the growth and the change over time, my brain is actually being squished and pushed to the left.
17:49I've had doctors come in and be like, oh, you can read?
17:53And I'm like, I went to school for it. Sure can.
17:59And they're like, no, like you're not supposed to be able to do that.
18:03We don't even know how you're operating the way that you are.
18:07Hi. Good morning. Good morning. Good. Come on.
18:12What was your childhood like before you noticed symptoms of your condition?
18:16Honestly, my life was great.
18:20I was riding roller coasters and I was able to play however I wanted. No restrictions.
18:26We had no idea you had it, but obviously you did.
18:28But you can definitely see from pictures of when you were younger.
18:31There's nothing. It's symmetrical. You would never have known.
18:34Tell us what happened at the dentist.
18:36I was 12 years old.
18:38I was going in to get some fillings done for my cavities.
18:44I woke up the next day.
18:46I went downstairs and mom, she had this look on her face and she just said, what's wrong with your
18:51jaw?
18:51And I knew instantly that something was wrong. So I called them up and I asked if they would please
18:56have you come in so we could do a scan.
18:59The next day my mom got a call and they went in and my doctor actually had it pulled up
19:05on Google.
19:06And they let us know that you had fibrous dysplasia with McKeown Albright syndrome and that it was very rare.
19:14Sadly, it will only get worse. It's not going to get any better. It's not going to stop growing.
19:19I couldn't imagine having to be so strong at a young age.
19:24And then not only that, but to know that you've been in pain every day since you've been born.
19:29I can't imagine what that must feel like.
19:32Everything that I've loved doing roller coasters, no more.
19:36No jumping on trampolines, can't run due to the risks that I could face if I fall.
19:42I'd be protective of you either way, but I guess a little bit more since you're a lot more fragile.
19:47My mom and dad, they sat me down and mom was like, no matter what, we love you, we love
19:53each other.
19:54This is not going to destroy us.
19:56I've promised that I would never let my heart harden.
19:59So on those days when you're crying, I'm gonna cry with you like I always have.
20:05And on the days when you're strong, I'm here too.
20:09When I have a family that allows me to heal, it's a lot easier to heal.
20:15Instead of being pushed down all the time by both outside and inside sources.
20:19I'm picking out clothes to take a shower.
20:22What made you start posting about your condition on social media?
20:25Anger.
20:26I swear to God, the next that tells me.
20:28If you don't push those sunglasses all the way up your nose, they are .
20:33Anger was my first reason that I started posting.
20:36And then it became more of like an educational thing.
20:40I don't like when people just kind of ask you like, so what's wrong with your face?
20:46And they step away from you like it's contagious.
20:48Like, oh, am I gonna get that?
20:50I've been called a lopsided .
20:52Nobody is going to be attracted to somebody that is that asymmetrical.
20:56A person put on there that I should model.
20:59And underneath somebody was like, you're joking, right?
21:01And then they said modeling isn't for deformed people.
21:04Deformed people?
21:06Mm-mm.
21:07Not, no, no, no.
21:08We don't talk like that.
21:09I decided that maybe I can reach my fibrous dysplasia audience.
21:15If anything, I can help them directly.
21:17I want to help.
21:18Hi, guys.
21:19Get ready with me.
21:20I'm gonna do my makeup.
21:21I'm going on a date.
21:23I've had difficulties with dating because people choose to see the disease instead of the person with it.
21:29I always struggled when I was younger, especially with my disease and my face looking the way that it does.
21:35That part kind of hurt my confidence a little bit.
21:39I've had not so great relationships in the past.
21:42It was belittling.
21:43I could feel that when they looked at me, they didn't see me.
21:46They saw what I had.
21:47And I need somebody that sees me.
21:50Like I see me.
21:51You're probably wondering, if you've had such crappy people in the past, what's different about this time?
21:56Why are you going on this date?
21:58What's so special?
21:59The man doesn't suck.
22:01Hi, lovey.
22:02Michael and I met.
22:04I went to a car meet.
22:06So I approached him.
22:07I was trying to be cool.
22:09All I said was, so this is your car?
22:12That hooked him.
22:13I didn't tell him initially about like my private suspension.
22:16And it took me a while.
22:17It took me a couple of months for me to actually be like, this is what I have.
22:21I was very nervous that he was going to be like put off by it and not want to deal
22:27with it because a lot can come with that.
22:30Knowing that she went through a rough time going through it, I just want to let her know that she's
22:35not going to go through it alone anymore.
22:38So, yeah.
22:41He just looked at me and he was like, you're beautiful inside and out.
22:45And that's what I want.
22:47Thank you very much.
22:50My boyfriend is taking me roller skating today, which I am actually kind of nervous about.
22:57I am an eighth of an inch away from being paralyzed.
23:01If I fall, I could hurt my neck and my back.
23:05I feel nervous.
23:05I think we'll kind of just take things slow and see what happens from there.
23:09Let's take it off slow.
23:12Whee!
23:14I feel like everybody deserves to live.
23:16Even if there's a risk, it's good to just kind of face these fears now.
23:21When I have the support system like I do, I can push through anything.
23:26Today, it just kind of helps me realize more that like I am in control of what I'm allowed to
23:32do.
23:33And at the end of the day, if I want to take that risk, I'm allowed to take that risk.
23:38Instead of me having the disease, it's like I own it.
23:41It is mine that I take care of.
23:45It doesn't own me.
23:46I don't let it control me.
23:51I'm Nyla.
23:52I'm 22 years old.
23:54I live in Greenville, South Carolina.
23:56Today, I'm going on my first blind date.
23:58I think this will be my first date in a long time.
24:02So, I'm excited.
24:04Gotta make sure I get all dolled up and everything.
24:06Dating hasn't been the best.
24:09Being in a wheelchair, it causes a lot of men to feel insecure.
24:15They always see my disability as a deal breaker.
24:18But it's an advantage, honestly.
24:20Like, who doesn't want accessible parking?
24:23I mean, you up close to the store.
24:25I'm really comfortable with who I am.
24:27And I'm okay with just showcasing my chair.
24:30I call it my rolling throne.
24:32I'm a queen on wheels.
24:39What's going through my mind right now is a lot.
24:43I'm very nervous.
24:45Kind of wondering how he looks.
24:47And wondering to expect about the date.
24:50My name is Ken Lewis.
24:51I am a senior accountant.
24:53What I'm hoping for out of the date is just a good experience.
24:56Just building relationships.
24:58Maybe networking.
24:59Maybe finding a sweetheart.
25:04Oh, hi.
25:05How are you now?
25:06I'm good.
25:07How about you?
25:08Nice to meet you.
25:08Nice to meet you.
25:10My name is Ken.
25:11Nice to meet you.
25:12My name is Nyla.
25:13I'm getting situated right here.
25:15It would turn me off if he reacts negative about me being disabled or that he's trying to
25:23make it awkward.
25:24So what do you usually do for fun?
25:26Before the whole COVID, I used to like to travel around a little bit in the U.S.
25:30So, yeah.
25:31But I applied for my passport so I can be able to travel outside the U.S.
25:34Oh, she's trying to get stamps out there.
25:36Yeah.
25:36Okay.
25:36What about you?
25:38I'm actually traveling to Colorado this weekend.
25:41Oh, nice.
25:42I have a photo shoot out there.
25:44I am also a part-time model.
25:47Oh, you model?
25:48I model too.
25:49Yeah.
25:49Oh, hey.
25:51We just got a lot of comments.
25:52I'm telling you.
25:54What kind of modeling are you getting into?
25:56Oh, I just, well, I'm part of the modeling agency called Between.
26:00So my first gig was Savage Fenty.
26:04Yes.
26:05Yes.
26:05Checking out.
26:06Yeah.
26:07So I've been doing a little bit of something-something.
26:10You know what you doing?
26:11Hey, you doing your thing out there.
26:12Well, all the N.
26:13You understand me?
26:14When I was younger, I wanted to be a fashion designer.
26:16I was like, I'm going to be a doctor.
26:18I'm going to be all the- I had so many dreams.
26:19So when I, like, got bullied and then I had to go to therapy, and that's when I realized
26:27that I really wanted to go into psychology.
26:29I majored in psychology.
26:32Oh, okay.
26:33I really want to go into counseling, but I don't know.
26:37I'm kind of the, like, go with the flow type person.
26:41So I kind of just see what life takes me.
26:43I remember one guy, he came up to me.
26:46He said, you should really yourself because nobody don't really likes you.
26:52Then you model, then you about to graduate.
26:56I'm about to take a couple of notes.
26:57Matter of fact, we want to pay for that.
26:58Okay, go ahead.
26:59Go ahead and take a couple of notes.
27:02I'm going to run to the bathroom for a quick second.
27:05My first impression is, like, he's really great.
27:08He can make a great conversation.
27:11I think he's taking the fact that I'm in a wheelchair very well.
27:15The fact that he's not feeling creeped out and he's very comfortable.
27:20I do find him very attractive.
27:23I know.
27:25So when you first saw me, what you thought about me, you know, being in a wheelchair?
27:30Well, actually, your smile took me away from the wheelchair.
27:33I ain't gonna lie, as soon as I walked in.
27:35But, you know, it's my first date with anybody that had any disorder.
27:39Actually, what is your disorder, y'all?
27:41I have a rare form of muscular dystrophy called Oric.
27:44I'm the only one in the state of South Carolina with my disease.
27:47Oh, wow.
27:48Yeah, and at the time of my diagnosis, I was the number 96 in the whole world to have it.
27:52Well, let me tell you, you're rare.
27:53Yes, I'm very rare.
27:54There you go.
27:55You're rare.
27:56There you go.
27:57Hey, you gotta look at the bright spots up.
27:59Yeah, I always say I'm one in a million, so.
28:01There you go.
28:02I call my wheelchair my rolling throne because, you know, I'm a queen and everything.
28:06There you go.
28:07I feel like when it comes to me, people never want to try.
28:10And if they do find attraction in me, they really try to see my wheelchair as the problem,
28:16but not realizing that, you know, it doesn't have to be a problem.
28:20It's just a life thing.
28:22A lot of men are not very open-minded.
28:24They kind of have a lot of questions.
28:26They make assumptions.
28:28They want to know too much before even trying to get to know me.
28:31They'll be like, oh, can you have sex?
28:34Can you do this?
28:35Can you do all that?
28:36And I'm like, yo, you don't even know my name.
28:39What?
28:40I always shut guys down.
28:41I'll be like, but can you have sex, sir?
28:45I really look for someone who's very gentle.
28:48I think that's very important.
28:49I met a lot of men that was gentle, but, like, I feel like they try to hide it
28:54because they want to be, like, masculine and strong.
28:56Like, I like a man who knows how to be gentle and knows when to be strong
29:00and understand there's a balance.
29:02How about your dating life?
29:04Actually, I've been, uh, I was engaged at 21.
29:08You was engaged?
29:10Stuff starts stringing apart and, you know, and then she finally told me,
29:14okay, I wasn't ready when you asked.
29:15I just didn't want to make you sad.
29:17Split ways and then, you know.
29:18Yeah.
29:20I've been four years and be single, so.
29:22This is my first time ever being with anybody with a disorder.
29:26You know, but, looking at you from right here, I can't even tell.
29:32It's telling you.
29:34You smile.
29:35I got your hair done.
29:36Oh, yes.
29:37I got to say, listen.
29:38Look at that.
29:39Listen, I got to say it with my title.
29:41I call myself a disabled hottie, so.
29:44Period.
29:45I got to keep up with my title.
29:47You got to.
29:48Yes.
29:50I don't allow my disability to define me or hold me back.
29:54I just see it as, like, you know, it just cause limitations,
29:57some challenges, but, you know, I'm just going to jump over that
30:01and just keep going.
30:03I love to do this again with you.
30:04Oh, yes.
30:05Most definitely.
30:06I had such a great time.
30:07The date went great.
30:10He was so amazing.
30:12We had a great conversation.
30:14His vibe was great.
30:16I really felt like he didn't really focus so much on my disability,
30:20and he really actually wanted to get to know me and my life.
30:24I would hope that he would love to see me again.
30:26The date went pretty good.
30:28It's better than what I expected, actually.
30:31I just met a great person.
30:33Her condition didn't change anything.
30:35I just really, I'd rather build a friendship relationship first
30:40and then see what we can build onto that and see what we can branch off.
30:44Do you think we'll meet up again?
30:46Actually, I think we will meet up because I did promise to take her out one more time,
30:50so, yeah, it's a good chance, a very good chance.
30:57Because the skin's very tight and gets very dry,
31:01we have to moisturise Dylan's feet quite regularly.
31:04His toes here don't straighten, do they?
31:07They get very sore as well.
31:09MDP affects Dylan's feet.
31:11Dylan walks on his bones.
31:13He has no padding at all.
31:15He does need to use a lot of protection,
31:18otherwise they just ulcerate and just become so sore that he can't walk.
31:22Do you want to put your socks on?
31:24I have a condition called NDP syndrome.
31:29NDP stands for mandibular dysplasia with deafness and fordroid features.
31:35Some of the effects can include loss of fat, loss of hearing and it can cause a really small jaw
31:43and small ears.
31:45When Dylan's condition became obvious, we were aware that he'd lost fat all over his body.
31:52Hearing was an issue.
31:53There was the additional factors of autism.
31:55In terms of Dylan's clothes, we had to be really careful to get things that he'd actually wear.
32:00Dylan has quite sensory issues in relation to his clothes.
32:03My condition is only known to affect me and 15 other people worldwide.
32:11Sometimes I do feel sad about it.
32:14I think that it's extraordinary because I'm very unique.
32:21When Dylan was born, he was like any other baby.
32:24When he was about one, people started to comment on how thin he looked and asked me if he was
32:30eating properly.
32:32Dylan was my first baby so I didn't really have anything to compare him to.
32:38When he was about 18 months, he lost all the fat from his body and his face was quite skeletal
32:45looking.
32:47A lot of doctors started questioning whether we were looking after Dylan properly, whether we were feeding him right.
32:54That made me quite upset.
32:59The more that we went to the hospital, we'd be told that they thought that something was wrong.
33:04They'd tell us that they thought he might have leukemia.
33:06They'd do the test for that and then they'd say,
33:09Oh, it's not leukemia, but we think it could be this.
33:12And as the conditions that they were testing him for became rarer, it became scarier and scarier.
33:19We didn't know what was happening until Dylan was 10.
33:22We were told that Dylan was the ninth person in the world with MDP syndrome.
33:27The oldest person with MDP is 65. It's a genetic condition.
33:32For some people, it shows when they're very young, like Dylan was 18 months.
33:36For other people, it doesn't start showing until they're 11 or 12.
33:39So we're not sure what impact that has on the symptoms and how things progress.
33:45I was just so nervous about Dylan starting high school.
33:48I just felt like I was throwing him to the sharks.
33:51And I think the first couple of years, especially, were very difficult.
33:55School at the start was difficult and I didn't think anyone at school cared.
34:02I would come home and go in my room, but I think music helped me.
34:09I used my family to help me to stay strong.
34:15I started to get into photography round about the start of high school.
34:21And I would take photos on my phone and that was a way to help me to stay happy.
34:27And I would just come home and show my mum and my dad the photos that I took on my
34:33phone.
34:34And they were quite amazed.
34:37Social media was a great way to show my photography work to people.
34:44And just to show that I have something that I'm passionate about.
34:48I think Dylan just developed that strength of character to say, well, this is me.
34:55This is who I am.
34:57I think photography has helped me to keep going.
35:02Without photography, I would not feel as positive about myself.
35:08And I don't think I would be as confident as I am today.
35:16I also love dancing. That's a big part of my life.
35:20It's something that I'm also really passionate about.
35:24Your movement is really free-flowing. You're connecting with the music.
35:29It's really beautiful to watch Dylan dance. You can see pure joy.
35:33Dylan amazes me every day. I can't believe how it's turned out really.
35:41He's just persevered to just become this amazing young man.
35:46We're really proud of who you are and everything that you've had to deal with.
35:52And the way that you've done it with such grace and such strength and such humility.
36:04My name is Kirsten. I am 22. I have pre-trix ataxia.
36:10It causes progressive coordination loss in all of my muscles.
36:17It takes me a little bit when I get up to get ready for the day.
36:22Growing up, I never would have thought I would have this.
36:28I always thought I would be the person who could still do backflip
36:32when they were 30 years old.
36:38Typically, when you get diagnosed, the doctors say you'll lose your walking in about 5 to 10 years.
36:46It affects speech as well. It can cause heart problems.
36:52Sometimes when I'm more tired, I'm scared I'll fall. I do fall sometimes.
37:00Dad, will you help me bring my coffee out?
37:03Both my sister and I have a thing.
37:06They first suspected something with my sister.
37:11She was having some balance issues.
37:14I think the first time that I noticed something was wrong.
37:17I think when we went on our family vacation, I could kind of see her walk and her gait.
37:23I was like, it looks a little off.
37:25We really then just put Lauren kind of through the gauntlet for the next four months,
37:29going from doctor to doctor to doctor, trying to figure out what all this was.
37:33I remember vividly the balance test.
37:37I was like, I feel like all the tests they're doing to her and she's struggling with, I'm struggling with
37:44too.
37:45She did the balance test where she closed her eyes and she fell over and I'm watching her do that.
37:51And I closed my eyes and I kind of started swaying.
37:55They took my blood. My test results came back two weeks later.
37:59I was numb. I did not want to believe it.
38:01I didn't want anyone to talk to me about it.
38:05I was totally freaked out.
38:07My disease is progressive.
38:09So what I can do now, I won't be able to do in two years, four years.
38:14It is hard to stay positive when it is such a hard diagnosis.
38:18We try to continue encouraging you guys to live your dreams.
38:23They've changed a little.
38:24The diagnosis was definitely hard on my parents because no parent wants to hear that their two daughters both have
38:32a rare disease that's progressive.
38:36They don't really show that they're upset or struggling, but I'll catch them maybe being upset on their own.
38:43And they'll try to act okay and strong for me, but I know it has to be really hard.
38:48You guys, you know, are now holding down careers and doing awesome.
38:53Just pushing through this and saying we're not going to let this defeat us.
38:58And here we go.
39:00It is terrifying knowing that I am going to lose functions in the future.
39:07I honestly try not to think about it, but when I do, I try to turn that fear into working
39:17out and fighting it.
39:21Keep those elbows straight.
39:23Physical therapy now is a way to kind of work out my stress and my anger.
39:28It's a stress reliever, and I feel really accomplished when I finish a physical therapy session.
39:36It's difficult to watch, but we know it's necessary and we know where we're at.
39:40And we just got to keep pushing forward.
39:42All right.
39:45Here's my day in the life of living with Friedrich's ataxia.
39:49What are some of the negative assumptions people have made about your condition?
39:52People think I'm drunk.
39:55There have been instances where people are mean, like bouncers, and they're like, I don't care.
40:01You're making it up.
40:03I have spoke on TikTok about this topic, and it was crazy to me how many people there are that
40:10do not care about people who have disabilities.
40:14Like, they're like, if you have a disability, you shouldn't be out drinking.
40:18I am a human.
40:19I do deserve to go out and have fun and have social interactions.
40:23But it does really get to me because I'm like, they don't know me.
40:27They don't know my story.
40:29Like, how dare they?
40:30I want anyone with a rare disease to know that you are not alone.
40:37Hello.
40:38How are you?
40:39I'm good.
40:40I missed you.
40:41Come on in.
40:44Today, my friend Madison is coming up.
40:46She knew me before diagnosis, and after diagnosis, she has been the greatest support.
40:53Do you remember when the day I got diagnosed and I called you?
40:58Do you remember that conversation?
41:00I do.
41:01It was so sad.
41:01I was so sad.
41:02I cried a lot.
41:04I cried a lot that day.
41:05I thought I would be that 40-year-old mom who could still do a backflip on command.
41:12If you would have asked me, I would have betted on it as well.
41:16Yeah.
41:16Growing up, I was a varsity cheerleader.
41:19I was the girl who would get thrown in the air.
41:21I'd be on one leg, they'd throw me up and catch me on the other leg.
41:25How does it feel just looking at these now?
41:28I don't know.
41:29It kind of makes me sad.
41:30Is it?
41:31Yeah.
41:32It does.
41:33Send me your pictures together.
41:34I love that picture.
41:36Is it hard that you know that you can't do stuff like that now, considering you were an athlete your
41:43whole life?
41:45Yeah.
41:45Yeah.
41:46I feel like I have this crazy skill and that got taken away from me.
41:50I miss being able to dance.
41:53I wish I could still dance and I've lost that ability.
41:59She wants to have fun.
42:00She wants to dance.
42:01She wants to have all of these experiences.
42:08And she can't.
42:10And for me to see that is hard.
42:15I wish I could just pick her up and take her out there and dance with her.
42:19Like I always have to remind myself, it's okay.
42:22You're okay.
42:24Everything's fine.
42:25It was all about the fun, the friendships, and you can never take that stuff away.
42:31You're right.
42:32Nobody can never take those from you.
42:34Yeah.
42:34You'll have those forever, those memories for sure.
42:36And we wouldn't have been so close if we didn't cheer together all these years.
42:41I know.
42:41I love you.
42:43I am hoping in the future there is going to be a curve and I'll never lose my walking.
42:50But even if I do, I just really hope in the future that I'll have a family someday
42:57and still do the things that make me happy.
43:00We love fishing.
43:01This was actually our first date ever.
43:03My boyfriend knew that I had F.A. when I first met him.
43:07In the past, guys have been totally freaked out by F.A. and their families.
43:11And they were like, you don't want to date a girl who's going to be in a wheelchair.
43:15When we first met and I first told you about F.A., what was your initial reaction?
43:22Um, at first I had no clue what it was, but I did a little bit of research and, I
43:28mean, it doesn't have no issue with it for me, so.
43:31And it's scary at all?
43:33No, it's not really, no.
43:34He is very understanding.
43:36He knows that I do get a lot more tired than he does and he will step it up and
43:42help me when need be.
43:43I've had a few people ask if I'm comfortable to be there to support you.
43:48And that's totally something I'm willing to be here for and I'm thankful to have you with me.
43:55I hope that people know that if they have a disability or they're newly diagnosed with a health condition, that
44:02it's not going to stop you from finding love and living your life to the fullest.
44:08You can find options to do the things that you love to do.
44:12My perspective on life, I am grateful for and I wouldn't have had that if I was not diagnosed with
44:19Friedrich's ataxia because I like to live my life to the fullest.
44:24I like to be happy and I just try not to let the little things get me down in life.
44:33I'm about to call all my friends.
44:36Oh, Lord have mercy. Hopefully it works.
44:40I'm Alexandra. I'm 27 years old and I have Williams Syndrome.
44:45I'm Victoria. I'm 30 years old. I'm this one's sister.
44:49Williams Syndrome is a condition kind of like Down Syndrome, but we're missing chromosome 7.
44:57It's characterized by cognitive and developmental issues.
45:01Along with the developmental delays, they also have very like highly social personalities.
45:08Hi, I'm Alexandra. I have Williams Syndrome.
45:11They all have an affinity for music.
45:13Do you know Nickelback? I do.
45:15Love that band.
45:17They have similar facial features and y'all have a wider mouth and then y'all usually all have like
45:24the starburst blue eyes. A lot of y'all do.
45:28Oh, yeah. If you came close to my eyes, you would see it.
45:31Hi. I talked to my friends that have the same Williams Syndrome.
45:38She's made Williams Syndrome friends from all over the world.
45:42They Facebook Messenger all the time, like all the time.
45:46I'll be like sewing and I'll look over and some of them are sleeping and they're like watching each other
45:53sleep.
45:54Some of them are like dancing and doing their own thing.
45:57We're really crazy.
45:59What do y'all ask me to do to Alexandra when y'all are on the phone?
46:02Oh, no, no, no, no, no. I know where this is going. Don't.
46:05Huh?
46:07You can tickle her.
46:08I can tickle her.
46:11It doesn't feel tiring to match her happy energy.
46:15She's always been that way. It's always been a consistent in my life.
46:18Me and my sister spent every day together.
46:21I love hanging out with her.
46:23We are going to the thrift store to find new items so we can create something really cool today.
46:33Put your shoes on, girl.
46:34Sometimes we argue.
46:36I mean, we're sisters. That's what sisters do.
46:39She's a precious sister. That's why.
46:42Where's your jacket?
46:43Throw me mine.
46:48I totally threw it, so I threw it.
46:50You did. You did throw it.
46:55My parents were always very open and honest about her disability.
47:00Our mom, she took her out of school and she got homeschooled where she could have the one-on-one
47:05attention that she actually needed.
47:07It was kind of in that point where kids aren't so as accepting.
47:13When they kind of get to that age where they start forming friend groups and, oh, she's a little different.
47:18That's something I really, I don't think she would have been able to handle.
47:22But she didn't have to go through that.
47:24No.
47:25Are you happy?
47:26Are you happy about that?
47:27Oh, yeah.
47:31Oh, this is not as cute as I thought it was.
47:36She has so many cute clothes.
47:39It's ridiculous.
47:40I love clothes.
47:43They're so pretty.
47:44Well, we like fun, happy, funky clothes.
47:49It's kind of hard to find, so we just make our own.
47:52It's like treasure hunting.
47:53We like treasure hunting.
47:55And then we like creating.
47:57So, we treasure hunt and create all at the same time.
48:01That's funky.
48:03What does it make you feel when you find something that you really like?
48:06I get excited immediately.
48:09She goes like this.
48:11She got blue nails.
48:14Are you a people personnel?
48:16Yeah, if I know them well enough.
48:19Yeah, but back when you were younger, it wasn't if you knew them well enough.
48:24I used to love hugging people that I didn't know, because it made me happy.
48:30She would.
48:31So, she would wander off and just give anybody a hug, which is sweet, and most people don't mind.
48:36But, you know, some people do mind.
48:39Not everyone is friendly.
48:40Not everyone has good intentions.
48:42It took a while for you to understand that.
48:47Victoria taught me not to.
48:49I worry people will take advantage of her, but I will always be there to protect my sister.
48:54In the car.
48:56Good job.
48:57So, the mottos that are on our clothes, we try to use phrases that are, like, be yourself, stay weird,
49:05normal is boring.
49:06You know, if you're weird, that's fine. Like, embrace how you're unique.
49:09I love that one.
49:11You like this one?
49:12Mm-hmm.
49:12Of you?
49:13Yeah.
49:13Yeah.
49:14It says, normal is boring.
49:15And it has the Williams Syndrome logo on there as well.
49:19So, any of our items, like, t-shirts-wise, that we make that has the Williams Syndrome logo, we donate
49:24a portion of our profits to the association.
49:28These colors match together.
49:30You like those colors together?
49:31Yes.
49:32So, I do the sewing, because I enjoy it, and she, like, has no interest in sewing.
49:38But she helps.
49:40You want to cut it?
49:40When she cuts, it's a little jagged, but I like that.
49:43It just adds some uniqueness to it.
49:46She likes to, I mean, have the final say-so on the designs to make sure that they're Alexander approved.
49:54So, all of the designs have been Alexander approved before they go on the website.
50:00And I'll get something, and I'll say, what do you think about this?
50:02And she'll be like, no, that's ugly.
50:05And so, I'll try again until-
50:06I'll be honest with you, I will tell her how it is.
50:10This one's one of my favorites, because it has me on it.
50:14You cut off the bottom to this to make it, like, fray and worn looking.
50:20And who models the clothes when they're done?
50:26Oh, okay.
50:29Walk towards me with your model walk, and runway go.
50:35And then strike your pose.
50:37Good job.
50:39Alexander, how do you feel when you're modeling?
50:42I feel good.
50:43She is the best model.
50:45Oh, oh, I look good.
50:48Which one, you think?
50:50Oh, that one's cute.
50:51You like that one?
50:52Yeah.
50:53I like that one.
50:55And we make videos?
50:56Yes.
50:57For, what do we make videos for?
50:59TikTok or Instagram.
51:01Are you ready?
51:02Yeah.
51:02I feel like I have tried to create platforms to where it is positive, and there is love.
51:09Everyone gets trolls, and it would really irk me when they would make comments on my sister.
51:17And that was part of the reason why I was hesitant in the beginning to even put her on social
51:20media.
51:21I mean, there are things that could get her down, but she chooses not to, so it makes me proud.
51:28Just the way that she loves and cares about people is a good reminder for me to just see the
51:35world from her point of view.
51:39Because I think our world, especially nowadays, just needs a lot more of that.
51:44Why are you proud of me?
51:46Since you have been there for me since I was born?
51:50Yeah.
51:52But I'm always going to be there for you.
51:56That's what sisters are for.
51:58Huh?
51:59You should be happy with what makes you unique.
52:04Because normal is like really boring.
52:06Yeah.
52:07Yeah.
52:07Yeah.
52:10I'm just going to give you a yogurt.
52:16Nothing.
52:16I need assistance to everything.
52:19Whether it's eating, they can sell it, let's see my teeth, go into the bathroom.
52:24I am two for three inches.
52:26His condition is worse and worse every day.
52:31He was driving and he fell down and we had to go to the doctor.
52:35I was pronounced dead.
52:36I think that he was dead.
52:38That happened nine months ago.
52:40When I was a year and a half, I got pneumonia.
52:45They didn't take me after me.
52:47And then they diagnosed me as Jennifer's point, the brain of type 2.
52:54Here is when he was four years old.
52:58The doctor said he's going to die.
53:00That was very hard.
53:02And we say we have to do a big, big party because he's going to die.
53:06Every single year after that, we go to the same doctor.
53:11And we look at his face that I'm still alive.
53:14I am 24 years old.
53:17His chest is very tiny for his organs inside.
53:22One lung totally doesn't work.
53:24When the machine beeps, I know that he needs suction fast.
53:29But when the machine don't beep, he told me, mommy, I need suction.
53:34It's because he feels that the mucos coming.
53:36The doctor told me how I had to do it.
53:39The first time, that was very, very scary.
53:43I just can't disconnect here.
53:45When I do this, oh my God.
53:47But with the time, you use it.
53:50I learned how to suction him at a really young age, since like seven years old.
53:55The first time I suctioned him, I was definitely scared because we were in the moving vehicles.
54:00My mom was driving and he gave me suction right away and there was nowhere to stop.
54:04Definitely has prepared me for everything that's happened since.
54:06And he made it with better advocates to learn medical school.
54:12Christopher's condition has definitely molded my path.
54:15Because of him, I am going into the medical field.
54:20Journalism has been a very important part of his life.
54:23I know that he always wanted to be a journalist.
54:25Another interest of his is looking for celebrities.
54:28The first time I became famous, just because my Instagram number started to go up.
54:35This is the day, four months after the World Cup for 2014 happened.
54:43That day, Christopher took a picture of Thomas Rodriguez, the number one player in the Colovia team.
54:50The star player posted me on his social media.
54:54My phone just starts blowing up out of nowhere.
54:58When I track some enemies, that takes a lot of dedication.
55:02I need to know everything, every single step they take.
55:07Billy Ivins, who was a hard one, who just got lucky, who followed her car to a taxi place.
55:15And there was literally half the city waiting outside the place.
55:20She came out, she was also fair.
55:23I got my concern with Seth.
55:25It was a cool moment.
55:28Lil Nas X.
55:29He had just wanted VMA award.
55:32So he was in a good mood.
55:34I got to the location.
55:37Securities were nice enough to let me in.
55:40At the rate, for him to come out.
55:43We were able to chat.
55:44We were able to sing a little bit.
55:46Yeah, he was really nice.
55:48My celebrity stalking skills helped me with my journalism.
55:53I only applied to three schools.
55:56I wanted to show my family that I could do it.
55:59But in 2000, I had my galaxy, and I got an email.
56:03I opened it, and it's Colovia.
56:06It's Colovia.
56:07This is the defining moment.
56:09I got my bachelor's degree.
56:12I got my bachelor's degree.
56:12From January.
56:13I went to the University.
56:15And my bachelor's degree.
56:17And my bachelor's degree.
56:18From Columbia University.
56:20I got to school.
56:21I was 10 years old.
56:23It was hard to have a leader to graduate with honors.
56:27My mom was in a face.
56:29Watching a face.
56:31It was priceless.
56:32I am very, very proud of my son Christopher.
56:37When he was like 10, 11 years, I never think that he go to the college.
56:42But after that, he do the maestria.
56:45And I am very, very proud of him.
56:49When I go outside, a lot of people want to know how we try him.
56:54This is to be an everyday thing.
56:58To come to the park.
56:59Every day, we have to do this.
57:02To see him smiling, laughing.
57:06That's everything.
57:08I don't need more.
57:09I'm outgoing.
57:11I'm mentoring people.
57:12My dream was to be a sports analyst.
57:17And in terms of writing and other journalism.
57:21It's just to be able to tell the stories of immigrants.
57:28That make our New York City the diversity that it is.
57:33Being a disabled member of the community.
57:37It's not easy to change the narrative.
57:42But obviously, there's always gotta be a first time.
57:46There's always a first time for everything.
57:53There'srice for이트.
57:53Where's Cire regardless?
57:53Thin lumber…
57:54Huh?
57:55…
57:55…
57:55…
58:00You
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