Up next in 10
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
Show More Show Less View Video Transcript
0:00
On the outside I look like a typical woman. On the inside you can see that I definitely am not
0:06
I have two uteruses and one ovary. Most people have a rectum. I don't actually have one of those
0:12
I was born with major syndrome. My condition is super rare. Before I know there are only 93 known cancers in the world
0:23
A dentist drilled my tooth and now I'm one in a trillion
0:28
My ultra rare condition makes my face swell and change shape. I was born with orec muscular dystrophy and I'm the only one in South Carolina with my disease
0:38
At the time of my diagnosis, I was the number 96 in the whole world to have it
0:42
My condition called NDP syndrome is only known to affect me and 15 other people worldwide
0:50
I'm not drunk. I have a rare condition. I am gradually losing control of my muscles over time
0:57
My rare condition means I love everyone. Williams Syndrome is a super rare genetic condition, characterized by cognitive and
1:07
developmental issues and highly social personalities. I feel this question in the world
1:13
Like, they said that I was going to die at the Institute
1:18
Christopher was diagnosed with Thanatophoric Dysplasia Type 2. It means death-bearing. the condition in and of itself already has its excellent hints with it
1:28
Vactual Association is an acronym that stands for vertebral, , cardiac, tracheal, esophageal
1:35
and renal and limb abnormalities that affects one in 10,000 to one in 40,000 births
1:44
Each abnormality has affected me in a different way. So for the V for vertebral, I have had hemivertebral, which is partially formed vertebra, an extra
1:53
lumbar vertebra which has made me extra tall, congenital scoliosis which is curvature of my
1:58
spine but I've had sacralogenesis which is missing bones in the base of my spine
2:04
and that unfortunately has led to some missing nerves in my pelvis and I was actually born with
2:10
a cloaca which is one single opening so I had my urethra, two vaginas and my colon all coming into
2:18
that one single opening. I actually can't have any indication of when I need to go to the bathroom
2:23
I was born with a hole in my heart, so this was able to heal without any surgical intervention, thankfully
2:30
I was first told about Anya's condition when I was 28 weeks pregnant
2:35
and the midwife saw that I was growing faster than I should
2:41
and that's always a worrying sign, apparently. And so she asked if I'd have an ultrasound, so I went to have an ultrasound straight away
2:50
and they couldn't find Anya's stomach. I thought, wow, that's pretty heavy
2:57
I thought, you know, the baby was going to die. And they said, look, we've got somebody really good here
3:03
who's a specialist in these sorts of things and he's on duty tomorrow
3:07
So he identified immediately that she had Vactral Association. She was taken over to surgery
3:13
and went through about five hours of surgery on that very first day of life
3:19
and for me as a mother, it was very difficult to have your child whisked away
3:26
They joined my food pipe to my stomach, they disconnected it from my air pipe
3:31
and that's when they actually made my colostomy and my vesicostomy so I could get waste out of my body
3:38
Without this surgery, I basically would have died immediately and would have had no chance at survival
3:43
I had my reconstruction at seven months. They cut from front to back and made all three pelvic openings
3:50
And then shortly after that, I had my colostomy and my versicostomy
3:54
so those bags for the bowel and bladder. I had them reversed so I could actually start to function out of my pelvic openings
4:02
We had, I think, 50 admissions to hospital in those first four years of life
4:08
Every time she went in for surgery, I would panic until I heard she was out
4:15
All of these surgeries that I had as a child had such a significant impact on me now
4:19
because it meant that the chances of me having an abdominal surgery for anything made it so high risk
4:25
I met this absolutely incredible surgeon. He went in and divided all of those adhesions and removed this growth by, at this stage, it was 10 by 13 centimeters
4:36
Moving forward to 2020, I had another surgery, a fungiuplication. This is a surgery that they do for reflux
4:42
So I've always had really bad reflux since I was a child. Unfortunately in this time I lost quite a significant amount of weight
4:49
Now I basically just eat everything orally and I'm just trying to eat as much as I possibly can
4:56
so I can get that weight gain. I remember when she was little I said
5:01
do you feel bad that you can't do a lot of things
5:05
And she said, look, I can't wait until I'm well to do things
5:09
so I just have to get on and do them and I thought wow it's an amazing attitude she's like seven or
5:16
eight years old and she'd already decided that she just had to get on and have a life because
5:22
she couldn't wait. I first decided I wanted to get into modelling when I was about 14 or 15
5:27
and I yeah I just saw that there was so much potential to represent my community
5:34
it was definitely difficult because my scars put up like an incredible barrier
5:39
I was first told that I was never going to be able to model to show my stomach with my scars
5:45
and I was able to work really really hard and persist and I was able to get to you know Amsterdam
5:52
Fashion Week within a year of getting my first modeling contract I've had some incidences
5:57
unfortunately where I've actually passed out at shoots and really struggled and that really had
6:02
nothing to do with the fact that I was modelling but more to do with the fact that I was running
6:06
myself into the ground because I was pushing my body too far. You've always been by my side
6:13
throughout all of it you know you've you've lived it with me you really have and it's like I would
6:20
not know what to do without you. I absolutely dedicate so much of that support to my mum she
6:26
taught me so much and especially you know about resilience and about you know my condition and
6:35
that it was not something to be ashamed of it was not some sad story I felt equipped to transform
6:42
you know a pretty crappy set of circumstances at times into something that is a really strong
6:48
purpose in my life to drive forward you know positive change in the system from my lived
6:53
experience. I started Champion Health Agency in May 2021. Champion Health Agency is a talent
7:01
agency for lived experience that is impacting change across all sectors. At the moment we
7:08
represent 28 people, most of them are in Australia and we've got one person in New Zealand and one
7:14
person in England. They've all got such diverse and impactful stories. I was thinking about calling
7:21
at you know like the health agency or the patient agency or something and champion kind of came just stood out we need to transform the way that we think of champions and think of champions as the people that make true change in our society
7:37
And I think that really should be people with lived experience. You can actually have a really
7:42
successful and fulfilling life and, you know, have a huge impact on many other people's lives
7:48
and that you have a significant place in society, whether you have a disability or not
7:55
I have always been into dancing, but I just haven't found the right studio that I felt
8:04
comfortable in. So I was scrolling on TikTok one day and I saw Rick
8:09
I just loved everything about him, his environment, his attitude, the way he runs his class, it
8:16
was amazing. I've been doing it for going on three months now and I haven't stopped
8:24
I've been dancing constantly, that was since I started. I was very nervous putting myself out there
8:32
I didn't know how people were going to react to me physically
8:36
They were like, well, she can't do this, she can't do that. Hips and throw, head, head, cross, cross, open, open, scoop
8:45
It does take a certain amount of courage to show up for any dance class
8:49
To risk making mistakes and to stand in front of a room and say
8:53
Here I am just trying as best as I can. Ashley's body is built differently
8:58
so she's obviously gonna have a different sense of balance. Knee, turn
9:02
But as she gains balance and gains her own footing, she's able to make the moves more of her own
9:08
every single time that she executes. Sweet. Hell yeah. Got it. Nader Syndrome and the cranial facial deformity in the face, arms, and hands, and there's only
9:31
fewer than a hundred cases in the world. My arms are short, so there are things I cannot do for myself
9:39
I had to learn from figuring out ways to make it work for myself
9:50
So I wanted to reach open high, I would have to stay around the school
9:55
I just had to learn my thinking outside the box on how to adapt to the outside world
10:02
When I was born, I didn't really have a draw, so I had to take mold from different parts of my head
10:12
my head and they implanted with a yaw and then just extracted it to make it more outward and then I
10:22
had surgery on my cheeks because I didn't have any cheeks nose so I had to implant those and I had other facial
10:31
injuries other stomach injuries and then I had surgery on my hands where they took both of my
10:38
index fingers and they rotated them into my thumbs. It was challenging because I was the only one who had
10:49
in a different room. So a lot of, like, some bands for school, people making fun. They
10:56
learned COVID-19, like, two rats, and then really, really fun. Like, I was trying every
11:05
night. I just had a hard time, but I didn't let it affect my schooling. Growing up in
11:12
the new world was a little bit tricky. There were a lot of times where people wouldn't really
11:18
give me the chance to like, get to know me, or get to know them
11:23
And it just kind of hurt because it felt like they were judging me for how I look, rather than trying to get to know
11:32
who I am as a person. So that was a little tough. Matt
11:38
Hold on. What? Oh, we're ready for your hair now? Yeah. And Ashley really got me attracted to Matt because he was so different from the other
12:19
other friends I had. He literally picked me as a whole person
12:24
He'll help me with all kinds of stuff, really. I mean, he'll help me with everything if he can
12:30
I help Ashley with her hair, putting on her top if she needs help with her top
12:35
Just basic things that would require extension and height. Someone's like a more physical aspect of me. I feel bad for someone to ask him to help me all the time
12:49
But he doesn't seem to mind it still. It makes me feel better that I have someone like him to be a big man if I have to have help
13:00
Everybody needs help in life. Yes, sir. I would feel amazing to know that I have a significant other who supports me and what
13:11
I want to do when I support him. So, we're like partner time, if you want to call it that
13:19
That is my life. It's very important. You want crushed ice or real ice? Crushed
13:30
Crushed ice it is. Got the big old fancy pours. Yeah. Saloon. Saloon
13:42
There are times where like me and Matt are out doing something or I'm doing something
13:48
but I feel where people waste their... It gets me really frustrated
13:54
uh there's definitely times that she has to uh hold me back because if we're like at a grocery
14:00
store and someone is just looking at her for no reason trying to judge her i just ask them
14:06
they got a steering problem or do we need like you know go up and talk somewhere so i don't like it
14:14
at all commentaries and like that's mainly like on social media where people would make
14:50
I don't feel like I'm going to feel a mind when I'm dancing. I don't feel nothing
14:55
And I feel freedom I feel the music I don feel nothing but music and dancing I love when Ashley posts her dance routines on social media
15:05
I know she gets an outstanding response every single time. But what I love most about it is that she's continuing to take away excuses
15:14
where other people come up with syndromes for themselves and say, I have two left feet, I can't dance
15:21
Ashley's standing up here with Neger Syndrome and is doing it. She's executing the moves despite what limitations her body might give her
15:30
And by doing that, she's inspiring other people that are just like her
15:34
other people that have bodies that are different than her, and people that might be self-conscious to show up for their first class
15:43
I feel like I needed to do that to show people, hey, this girl can really improve that Neger Syndrome
15:51
If she can do it, I can do it. And that's the main reason why
15:56
I do like the fact that I was more different just because it's brought out so much confidence
16:04
in me, I guess you would say. And now it's just like a complete 360
16:11
I feel really unique when I know that there's less than 100 people that have my condition
16:18
But it just means that we're special. That we're one at a time
16:23
And I tell it like that. I always start off my day with a facial massage
16:33
That's the FD, the fibrous dysplasia. It is bone. It is. It is bone
16:39
The name of my condition is fibrous dysplasia. I also have McCune-Albright syndrome
16:45
The lesions that grow on my bones, bones, there are tumors basically. It's overgrowth of bone. My cranial facial area is one of the most
16:55
affected. Sometimes this bone right here, my muscle will tighten around it and it will
17:04
become larger. And when it's large like that, it's harder to breathe. If I were to turn my head too
17:11
hard. I could technically break my neck. I have it in my 9th and 12th rib, tailbone, and lower vertebrae
17:17
as well. I experience pain daily. Today, I'm feeling it a lot in my ribs and my tailbone and lower back
17:25
and then a little bit of pressure behind my eye. Doctors have been concerned about my eye. It is
17:34
It's very possible that my eye will be pushed out of my socket
17:38
Due to the growth and the change over time, my brain is actually being squished and pushed to the left
17:49
I've had doctors come in and be like, Oh, you can read
17:54
And I'm like, I went to school for it. Sure can. And they're like, no, like you're not supposed
18:01
to be able to do that. We don't even know how you're operating the way that you are
18:07
Hi. Good morning. Good morning. Good. Come on. What was your childhood like before you noticed symptoms of your condition
18:16
Honestly, my life was great. I was riding roller coasters and I was able to play however I wanted
18:25
No restrictions. We had no idea you had it, but obviously you did
18:28
But you can definitely see from pictures of when you were younger. There's nothing. It's symmetrical
18:33
you would never have known. Tell us what happened at the dentist. I was 12 years old. I was going in
18:40
to get some fillings done for my cavities. I woke up the next day. I went downstairs and mom
18:48
she had this look on her face and she just said, what's wrong with your jaw? And I knew instantly
18:53
that something was wrong. So I called them up and I asked if they would please, um, had you come in
18:58
So we could do a scan. The next day my mom got a call and they went in
19:03
and my doctor actually had it pulled up on Google. And they let us know that you had fibrosis plasia
19:11
with McKeon outbreak syndrome and that it was very rare. Sadly, it will only get worse
19:17
It's not gonna get any better. It's not gonna stop growing. I couldn't imagine having to be so strong at a young age
19:24
And then not only that, but to know that you've been in pain every day since you've been born
19:29
I can't imagine what that must feel like. Everything that I've loved doing, roller coasters, no more
19:36
No jumping on trampolines, can't run, due to the risks that I could face if I fall
19:42
I'd be protective of you either way, but I guess a little bit more, since you're a lot more fragile
19:47
My mom and dad, they sat me down and mom was like, no matter what, we love you, we love each other
19:54
this is not going to destroy us. I've promised that I would never let my heart harden
19:59
So on those days when you're crying, I'm going to cry with you like I always have
20:05
And on the days when you're strong, I'm here too. When I have a family that allows me to heal
20:11
it's a lot easier to heal instead of being pushed down all the time
20:16
by both outside and inside sources. I'm picking out clothes today, the flower
20:21
What made you start posting about your condition on social media? Anger
20:26
I swear to God, the next **** that tells me. If you don't push those sunglasses all the way up your nose, they are ****
20:34
Anger was my first reason that I started posting. And then it became more of like an educational thing
20:40
I don't like when people just kind of ask you like, so what's wrong with your face
20:46
And they step away from you like it's contagious. Like, oh, am I going to get that
20:50
I've been called a lopsided ****. Nobody is going to be attracted to somebody that is that asymmetrical
20:56
A person put on there that I should model and underneath somebody was like, you're joking, right
21:01
And then they said modeling isn't for deformed people. Deformed people? No, no, no, no
21:08
We don't talk like that. I decided that maybe I can reach my fibrous dysplasia audience
21:15
If anything, I can help them directly. I want to help. Hi, guys
21:19
Get ready with me. I'm going to do my makeup. I'm going on a date. I've had difficulties with dating because people choose
21:26
to see the disease instead of the person with it. I always struggled when I was younger
21:31
especially with my disease and my face looking the way that it does
21:36
That part kind of hurt my confidence a little bit. I've had not so great relationships in the past
21:42
It was belittling. I could feel that when they looked at me, they didn't see me, they saw what I had
21:47
and I need somebody that sees me, like I see me. You're probably wondering
21:52
if you've had such crappy people in the past, what's different about this time
21:56
Why are you going on this date? What's so special? The man doesn't suck
22:01
Hi, lovey. Michael and I met. I went to a car meet, so I approached him
22:07
I was trying to be cool. All I said was, so this is your car
22:11
That hooked him. I didn't tell him initially about my fibrous dysplasia
22:16
and it took me a while. It took me a couple of months for me to actually be like, this is what I have
22:21
I was very nervous that he was going to be put off by it and not want to deal with it because a lot can come with that Knowing that she went through a rough time going through it I just want to let her know that she not going to go through it alone anymore
22:38
So, yeah. He just looked at me and he was like, you're beautiful inside and out, and that's what I want
22:47
Thank you very much. My boyfriend is taking me roller skating today
22:53
which I am actually kind of nervous about. I am an eighth of an inch away from being paralyzed
23:01
If I fall, I could hurt my neck and my back. I feel nervous
23:05
I think we'll kind of just take things slow and see what happens from there. Take it off slow
23:12
Whee! I feel like everybody deserves to live. Even if there's a risk
23:18
it's good to just kind of face these fears now. When I have the support system like I do, I can push through anything
23:26
Today, it just kind of helps me realize more that I am in control of what I'm allowed to do
23:33
And at the end of the day, if I want to take that risk, I'm allowed to take that risk
23:38
Instead of me having the disease, it's like I own it. It is mine that I take care of
23:45
It doesn't own me. I don't let it control me. I'm Nyla. I'm 22 years old. I live in Greenville, South Carolina
23:56
Today I'm going on my first blind date. I think this will be my first date in a long time
24:02
So I'm excited. Gotta make sure I get all dolled up and everything
24:06
Dating hasn't been the best. Being in a wheelchair, it causes a lot of men to feel insecure
24:15
They always see my disability as a deal breaker. But it's an advantage, honestly
24:19
Like who doesn't want accessible parking? I mean, you up close to the store
24:25
I'm really comfortable with who I am, and I'm okay with just showcasing my chair
24:31
I call it my rolling throne. I'm a queen on wheels. What's going through my mind right now is a lot
24:43
I'm very nervous, kind of wondering how he looks, and wondering to expect about the date
24:49
My name is Ken Lewis. I am a senior accountant. What I'm hoping for out of the date is just a good experience
24:56
just building a relationship, maybe networking, maybe finding a sweetheart. Oh, hi
25:05
How are you now? I'm good. How about you? Nice to meet you. Nice to meet you
25:10
My name is Ken. Nice to meet you. My name is Nyla. I'm getting situated right here
25:14
It would turn me off if he reacts negative about me being disabled or that he's trying to make it awkward
25:24
So what do you usually do for fun? Before the whole COVID, I used to like to travel around a little bit in the U.S
25:30
So, yeah, but I applied for my passport so I can be able to travel outside the U.S
25:34
Oh, she's trying to get stamps out there. Yeah. Okay. What about you? I'm actually traveling to Colorado this weekend
25:41
Oh, nice. I have a photo shoot out there. I am also a part-time model
25:46
I'm part-time model I'm part-time model too We just got a lot of comments
25:52
I'm telling you What kind of modeling are you getting into? I'm part of the
25:58
modeling agency called Between So my first gig was Savage Fenty Yes
26:04
So I've been doing a little bit of something You doing anything out there
26:11
When I was younger, I wanted to be a fashion designer. I was like, I'm going to be a doctor
26:17
I'm going to be all... I had so many dreams. So when I got bullied and then I had to go to therapy
26:25
and that's when I realized that I really wanted to go into psychology
26:29
I majored in psychology. Hmm, okay. I really want to go into counseling, but I don't know
26:36
I kind of go with the flow type person. So I kind of just see what life takes me
26:44
I remember one guy, he came up to me, he said, you should really yourself
26:48
because nobody don't really likes you. Then you model, then you about to graduate
26:55
I might take a couple of notes, matter of fact. We're gonna pay the pay for that
26:59
Go ahead, go ahead and take a couple of notes. I'm gonna run to the bathroom for a quick second
27:05
My first impression is like, he was really great. He can make a great conversation
27:11
I think he's taken the fact that I'm in a wheelchair very well. The fact that he's not feeling creeped out
27:18
and he's very comfortable. I do find him very attractive. So when you first saw me, what you thought about me
27:27
you know, being in a wheelchair? Well, actually, your smile took me away from the wheelchair
27:33
I ain't gonna lie, as soon as I walked in, but, you know, it's my first date with anybody
27:37
that had any disorder. Ashley, what is your disorder? I have a rare form of muscular dystrophy called OREC
27:44
I'm the only one in the state of South Carolina with my disease. Oh, wow. Yeah, and at the time of my diagnosis
27:49
I was the number 96 in the whole world to have it. Well, let me tell you, you're rare
27:53
Yes, I'm very rare. You're rare. You go, hey, you gotta look at the bright spots up
27:59
Yeah, I always say I'm one in a million, so. There you go. I call my wheelchair my rolling throne
28:04
because, you know, I'm a queen and everything. There you go. I feel like when it comes to me, people never want to try
28:10
And if they do find attraction in me, they really try to see my wheelchair as the problem
28:16
but not realizing that, you know, it doesn't have to be a problem
28:20
It's just a life thing. A lot of men are not very open-minded
28:24
They kind of have a lot of questions. They make assumptions. They want to know too much before even trying to get to know me
28:31
They'll be like, oh, can you have sex? Can you do this? Can you do all that
28:35
And I'm like, yo, you don't even know my name. I always shut guys down
28:41
I'll be like, but can you have sex, sir? I really look for someone who's very gentle
28:48
I think that's very important. I met a lot of men that was gentle, but I feel like they try to hide it
28:54
because they want to be masculine and strong. I like a man who knows how to be gentle
28:59
and knows when to be strong and understand there's a balance. How about your dating life
29:03
Actually, I've been, I was engaged at 21. Just engaged. Stuff starts stringing apart and you know
29:12
and then she finally told me, okay, I wasn't ready when you asked, I just didn't want to make you sad
29:17
Split ways and then, you know. Yeah. I've been four years and be single, so
29:23
This is my first time ever being with anybody with a disorder, you know, but
29:28
Looking at you from right here, I can't even tell. She's telling you
29:33
You smile, I got your hair done. Look at that. Oh, yes, I gotta say, listen
29:38
Look at that. Listen, I gotta say it with my title. I call myself a disabled hottie, so period
29:44
I gotta keep up with my title. Yeah, you got to. Yes
29:50
I don't allow my disability to define me or hold me back. I just see it as, like, you know, it just
29:56
caused limitations, some challenges, but you know, I'm I'm just going to jump over that and just keep going
30:03
I love doing this again with you. Oh, yes, most definitely. I had such a great time
30:07
The date went great. He was so amazing. Thank you. We had a great conversation
30:14
His vibe was great. I really felt like he didn't really focus so much on my disability
30:20
and he really actually wanted to get to know me and my life. I would hope that he would love to see me again
30:26
The date went pretty good. It's better than what I expected, actually
30:31
I just met a great person. Her condition didn't change anything. I just really, I'd rather build a friendship relationship first
30:39
and then see what we can build on to that and see what we can branch off
30:43
Do you think we'll meet up again? Actually, I think we will meet up because I did promise to take her out one more time
30:50
So, yeah, it's a good chance, a very good chance. Because the skin's very tight and gets very dry we have to moisturise Dylan's feet quite regularly
31:04
His toes here don't straighten do they? They get very sore as well
31:08
MDP affects Dylan's feet. Dylan walks on his bones. He has no padding at all
31:15
He does need to use a lot of protection otherwise they're just to ulcerate and just become so sore that he can't walk
31:22
Do you want to put your socks on? I have a condition called NDP syndrome
31:29
NDP stands for mandibular dysplasia with deafness and podroid features. Some of the effects can include loss of fat, loss of hearing
31:41
and it can cause a really small jaw and small ears. When Dylan's condition became obvious
31:48
we were aware that he'd lost fat all over his body. Hearing was an issue. There was the additional factors of autism
31:55
In terms of Dylan's clothes, we had to be really careful to get things that he'd actually wear
31:59
Dylan has quite sensory issues in relation to his clothes. My condition is only known to affect me and 15 other people worldwide
32:11
Sometimes I do feel sad about it. I think that it's extraordinary because I'm very unique
32:19
When Dylan was born, he was like any other baby When he was about one, people started to comment on how thin he looked
32:29
and asked me if he was eating properly Dylan was my first baby, so I didn't really have anything to compare him to
32:37
When he was about 18 months, he lost all the fat from his body
32:42
and his face was quite skeletal looking a lot of doctors started questioning whether we were looking after Dylan properly
32:52
whether we were feeding him right. That made me quite upset. The more that we went to the hospital, we'd be told that they thought that something was wrong
33:04
They'd tell us that they thought he might have leukaemia. They'd do the test for that and then
33:08
they'd say, oh it's not leukaemia but we think it could be this. And as the conditions that they
33:15
were testing him for became rarer, it became scarier and scarier. We didn't know what was
33:20
happening until Dylan was 10. We were told that Dylan was the ninth person in the world with MDP
33:26
syndrome. The oldest person with MDP is 65. It's a genetic condition. For some people it shows when
33:33
they're very young, like Dylan was 18 months. For other people it doesn't start showing until
33:38
they're 11 or 12. So we're not sure what impact that has on the symptoms and how things progress
33:45
I was just so nervous about Dylan starting high school. I just felt like I was throwing him to the sharks
33:51
And I think the first couple of years especially were very difficult. School at the start was difficult and I didn't think anyone at school cared
34:03
I would come home and go in my room, but I think music helped me
34:09
I used my family to help me to stay strong. I started to get into photography round about the start of high school and I would take photos on my phone and that was a way to help me to stay happy
34:27
And I would just come home and show my mum and my dad the photos that I took on my phone and they were quite amazed
34:36
Social media was a great way to show my photography work to people
34:43
and just to show that I have something that I'm passionate about
34:47
I think Dylan just developed that strength of character to say well this is me, this is who I am
34:56
I think photography has helped me to keep going without photography I would not feel as positive about myself
35:08
and I don't think I would be as confident as I am today
35:16
I also love dancing. That's a big part of my life. It's something that I'm also really passionate about
35:24
Your movement is really free-flowing. You're connecting with the music. It's really beautiful to watch Dylan dance
35:31
You can see pure joy. Dylan amazes me every day. I can't believe how it's turned out, really
35:40
He's just persevered to just become this amazing young man. We're really proud of who you are
35:48
and everything that you've had to deal with and the way that you've done it
35:54
with such grace and such strength and such humility. My name is Kirsten. I am 22. I have pre-trixia. It causes progressive coordination loss in all of
36:15
my muscles. It takes me a little bit when I get up to get ready for the day. Growing up, I never
36:25
would have thought I would have this. I always thought I would be the person who could still do
36:32
backflip when they were 30 years old. Typically when you get diagnosed, the doctors say you'll
36:41
lose your walking in about five to ten years. It affects speech as well. It can cause heart
36:50
problems Sometimes when I more tired I scared I fall I do fall sometimes Dad will you help me bring my coffee out Both my sister and I have a fae
37:06
They first suspected something with my sister. She was having some balance issues
37:14
I think the first time that I noticed something was wrong, I think while we went on our family vacation
37:19
I could kind of see her walk in her gate. I was like, it looks a little off
37:24
We really then just put Lauren kind of through the gauntlet for the next four months
37:29
going from doctor to doctor to doctor, trying to figure out what all this was
37:34
I remember vividly the balance test. I was like, I feel like all the tests they're doing to her and she's struggling with
37:42
I'm struggling with too. She did the balance test where she closed her eyes and she fell over and I'm watching her do that
37:51
And I closed my eyes and I kind of started swaying. They took my blood
37:56
My test results came back two weeks later. I was numb. I did not want to believe it
38:01
I didn't want anyone to talk to me about it. I was totally freaked out
38:07
My disease is progressive. So what I can do now, I won't be able to do in two years, four years
38:14
It is hard to stay positive when it is such a hard diagnosis
38:18
We try to continue encouraging you guys to live your dreams. They changed a little
38:24
The diagnosis was definitely hard on my parents because no parent wants to hear that their two daughters both have a rare disease that's progressive
38:35
They don't really show that they're upset or struggling, but I'll catch them maybe being upset on their own
38:42
And they'll try to act okay and strong for me, but I know it has to be really hard
38:47
You guys, you know, are now holding down careers and doing awesome
38:53
Just pushing through this and saying we're not going to let this defeat us. And here we go
39:00
It is terrifying knowing that I am going to lose functions in the future
39:07
I honestly try not to think about it. But when I do, I try to turn that fear into working out and fighting it
39:21
Keep those elbows straight. Physical therapy now is a way to kind of work out my stress and my anger
39:28
It's a stress reliever, and I feel really accomplished when I finish a physical therapy session
39:35
It's difficult to watch, but we know it's necessary and we know where we're at
39:39
and we just got to keep pushing forward. All right. Here's my day in the life of living with Friedrich's ataxia
39:49
What are some of the negative assumptions people have made about your condition? People think I'm drunk
39:55
There have been instances where people aren't mean, like bouncers, and they're like, I don't care, you're making it up
40:03
I have spoke on TikTok about this topic, And it was crazy to me how many people there are that do not care about people who have disabilities
40:14
Like, they're like, if you have a disability, you shouldn't be out drinking. I am a human. I do deserve to go out and have fun and have social interactions
40:23
But it does really get to me because I'm like, they don't know me
40:27
If they don't know my story, like, how dare they? I want anyone with a rare disease to know that you are not alone
40:36
Hello! How are you? I'm good. I missed you. Come on in
40:44
Today, my friend Madison is coming up. She knew me before diagnosis and after diagnosis
40:50
she has been the greatest support. Do you remember when the day I got diagnosed and I called you
40:58
Do you remember that conversation? I do. It was so sad. I was so sad. I cried a lot. I cried a lot
41:04
that day. I thought I would be that 40-year-old mom who could still do a backflip on command, but
41:12
if you would have asked me, I would have betted on it as well. Yeah, growing up, I was a varsity
41:18
cheerleader. I was the girl who would get thrown in the air. I'd be on one leg, they'd throw me up
41:23
and catch me on the other leg. How does it feel just looking at these now? I don't know, it kind
41:29
makes me sad. Yeah. And some of your pictures took care. I love that picture. Is it hard that you
41:37
you know that you can't do stuff like that now considering you were an athlete your whole life
41:45
Yeah, I feel like I have this crazy skill and that got taken away from me. I miss being able to dance
41:52
I wish I could still dance and I've lost that ability. She wants to have fun. She wants to dance
42:01
She wants to have all these experiences. And she can't. And for me to see that is hard
42:15
I wish I could just pick her up and take her out there and dance with her. I always have to remind myself, it's okay
42:22
you're okay everything's fine it was all about the fun the friendships and you can never take
42:29
that stuff away you're right nobody will can never take those from you yeah you'll have those forever
42:35
those memories and we wouldn't have been so close if we didn't cheer together all these years
42:41
i love you i am hoping in the future there is going to be a cure and i'll never lose my walking
42:49
But even if I do, I just really hope with the future of the family someday and still do the things that make me happy
42:59
We love fishing. This was actually our first date ever. My boyfriend knew that I had F.A. when I first met him
43:07
In the past, guys have been totally freaked out by F.A. and their families
43:11
And they were like, you don't want to date a girl who's going to be in a wheelchair. When we first met and I first told you about FA, what was your initial reaction
43:22
At first I had no clue what it was, but I did a little bit of research and I didn't have no issue with it for me
43:31
And it scared you to? No, it's not really, no. He is very understanding. He knows that I do get a lot more tired than he does and he will step it up and help me when need be
43:43
I've had a few people ask if I'm comfortable to be there to support you
43:48
And that's totally something I'm willing to be here for and I'm thankful to have you with me
43:54
I hope that people know that if they have a disability or they newly diagnosed with a health condition that it not going to stop you from finding love and living your life to the fullest
44:08
You can find adaptions to do the things that you love to do
44:12
My perspective on life I am grateful for and I wouldn't have had that if I was not
44:18
diagnosed with redricotaxia because I like to live my life to the fullest
44:23
I like to be happy and I try not to let the little things get me down in life
44:33
I'm about to call all my friends. Oh Lord have mercy, hopefully it works
44:40
I'm Alexandra, I'm 27 years old and I have Liam's Syndrome. I'm Victoria, I'm 30 years old
44:47
I'm this one's sister. Williams Syndrome is a condition kind of like Down Syndrome, but we're missing chromosome 7
44:56
It's characterized by cognitive and developmental issues. Along with the developmental delays, they also have very highly social personalities
45:08
Hi, I'm Alexandra. I have Williams Syndrome. They all have an affinity for music
45:13
Do you know Nickelback? I do. Love that band. they have similar facial features and y'all have a wider mouth and then y'all usually all have like
45:24
the starburst blue eyes a lot of y'all do oh yeah if you came close to my eyes you would see it
45:31
hi i talked to my friends that have the same william syndrome she's made william syndrome
45:40
friends from all over the world they facebook messenger um all the time like all the time
45:46
I'll be like sewing and I'll look over and some of them are sleeping and they're like watching each other sleep
45:54
Some of them are like dancing and doing their own thing. We're really crazy
45:59
What do y'all ask me to do to Alexandra when y'all are on the phone? Oh, no, no, no, no, no. I know where this is going. Don't
46:05
Huh? You can tickle her. I can tickle her. It doesn't feel tiring to match her happy energy
46:14
She's always been that way. It's always been consistent in my life
46:18
Me and my sister spent every day together. I love hanging out with her
46:23
We are going to the thrift store to find new items so we can create something really cool today
46:32
Put your shoes on, girl. Sometimes we argue. I mean, we're sisters
46:37
That's what sisters do. She's a precious sister. That's why. Where's your jacket
46:43
Throw me mine. Thank you. Totally threw it, so I threw it
46:50
You did. You did threw it. My parents were always very open and honest about her disability
47:00
Our mom, she took her out of school, and she got homeschooled where she could have the one-on-one attention that she actually needed
47:07
It was kind of in that point where kids aren't so as accepting
47:12
when they kind of get to that age where they start forming friend groups
47:16
and, oh, she's a little different. That's something I really don't think she would have been able to handle
47:22
But she didn't have to go through that. No. Are you happy? Are you happy about that
47:27
Oh, yeah. Oh, this is not as cute as I thought it was
47:35
She has so many cute clothes. It's ridiculous. I love clothes. They're so pretty
47:44
Well, we like fun, happy, like funky clothes. It's kind of hard to find, so we just make our own
47:52
It's like treasure hunting. We like treasure hunting. And then we like creating, so we treasure hunt and create all at the same time
48:01
That's funky. What makes you feel when you find something that you really like
48:06
I get excited immediately. She goes like this. She got blue nails
48:12
Those are cute. Thank you. Are you a people person, Amanda? Yeah, if I know them well enough
48:19
Yeah, but back when you were younger, it wasn't if you knew them well enough
48:24
I used to love hugging people that I didn't know because it made me happy
48:30
She would, so she would wander off and just give anybody a hug, which is sweet
48:34
And most people don't mind. But, you know, some people do mind
48:38
Not everyone is friendly. Not everyone has good intentions. It took a while for you to understand that
48:45
Victoria taught me not to. I worry people will take advantage of her, but I will always be there to protect my sister
48:53
In the car. Good job. So the mottos that are on our clothes, we try to use phrases that are like, be yourself, stay weird, normal is boring
49:06
You know, if you're weird, that's fine. like embrace how you're unique. I love that one. You like this one of you? Yeah. Yeah. It says
49:14
normal is boring and it has the Williams Syndrome logo on there as well. So any of our items like
49:20
t-shirts wise that we make that has the Williams Syndrome logo, we donate a portion of our profits
49:26
to the association. These colors match together. You like those colors? Yes. So I do the sewing
49:33
because I enjoy it and she like has no interest in sewing. But she helps. You want to cut it
49:40
When she cuts it's a little jagged but I like that. It just adds some uniqueness to it
49:46
She likes to I mean have the final say so on the designs to make sure that they're Alexander
49:53
approved. So all of the designs have been Alexander approved before they go on the website
49:58
And I'll get something and I'll say, what do you think about this? And she'll be like, no, that's ugly
50:05
And so I'll try again until... I'll be honest with you, I will tell her how it is
50:10
This one's one of my favorites because it has me on it. You cut off the bottom to this to make it like fray and worn looking
50:20
And who models the clothes when they're done? Oh, okay. Walk towards me with your model walk and runway go
50:35
And then strike your pose. Good job. Alexandra, how do you feel when you're modeling
50:42
I feel good. She's the best model. Oh, oh, I look good
50:48
Which one you think? Oh, that one's cute. You like that one
50:52
Yeah. I like that one. And we make videos for what do we make videos for TikTok or Instagram Are you ready Yeah I feel like I have tried to create platforms to where it is positive and there is love
51:10
Everyone gets trolls and it would really irk me when they would make comments on my sister
51:17
And that was part of the reason why I was hesitant in the beginning to even put her on social media
51:20
I mean, there are things that could get her down, but she chooses not to
51:26
It makes me proud. Just the way that she loves and cares about people
51:32
is a good reminder for me to just see the world from her point of view
51:39
Because I think our world, especially nowadays, just needs a lot more of that
51:44
Why are you proud of me? Because you have been there for me since I was born. Yeah
51:52
But I'm always gonna be there for you. That's what sisters are for, huh
51:59
You should be happy with what makes you unique. Because normal's like really boring. Yeah. Yeah
52:07
I'm just going to give you a yogurt. Remember, I need a system to do everything
52:18
Whether it's eating, taking salad, because he let me go into the bathroom
52:24
I am two-foot-three inches. His condition is worse and worse every day
52:30
He was driving and he fell down, and we had to go to the doctor
52:34
I was pronounced dead after sick. That happened nine months ago. When I was a year and a half, I got pneumonia
52:44
They did the chastele and then they diagnosed me as Johnny DeFleur is 20 years old
52:54
Here is when he was four years old. The doctor said he's going to die
53:00
That was very hard and we say we have to do a big, big party
53:04
because he's going to die. Every single year after that, we go to the same doctor
53:10
and we're moving in his face that I'm still alive. I am 24 years old
53:17
His chest is very tiny for his organs inside. One lung totally doesn't work
53:24
When the machine beeps, I know that he needs suction fast. But when the machine don't beep, he told me
53:32
mommy, I need suction. It's because he feels that the mucos coming
53:36
The doctor told me how I had to do it. The first time that was very, very scary
53:42
I just can't disconnect here. When I do this, oh my God
53:47
But with the time you use it. I learned how to suction him at a really young age
53:53
since like seven years old. The first time I suctioned him, I was definitely scared
53:58
because we were in the moving vehicles. My mom was driving and he needed suction right away
54:02
and there was nowhere to stop. Definitely has prepared me for everything that's happened since
54:06
And I made it with better advocates for medical school. Christopher's condition has definitely molded my path
54:15
Because of him, I am going into the medical field. Journalism has been a very important part of his life
54:22
I know that he always wanted to be a journalist. Another interest of his is looking for celebrities
54:29
The first time I became famous is because my Instagram number started to go up
54:35
This is the day four months after the World Cup for 2014
54:42
happened. That day, Christopher took a picture of Thomas Rodriguez, the number one player in the Colovia team
54:51
The star player posted me on his social media. My phone just starts blowing up out of nowhere
54:58
When I drag some memories, that takes a lot of dedication. I need to know everything
55:05
Every single step they take. Billy Ivins was a hard one. Just got lucky to follow the car to attack to the place
55:15
And there was literally half the city waiting outside the place. She came out
55:21
She mailed her face. I got my concern, who said, it was a cool moment
55:27
Real dollars X. He had just wanted VMA award, so he wasn't in good mood
55:33
I got to the location. Securities were nice enough to let me in
55:40
And the way it's fair to come out, we're able to chat, we're able to sing a little bit
55:46
Yeah, he was really nice. My celebrity stalking skills helped me with my general note
55:53
I only applied to three schools. I wanted to show my family that I could do it
55:58
But in 2000, I had my down suit, and I got an email. I opened it, and it's Columbia
56:06
It's Columbia. This is the defining moment. When he was like 10, 11 years, I never think that he go to the college
56:42
But after that, he do the maestria, and I am very, very proud of him
56:49
When I go outside, a lot of people want to know how we try him
56:55
This is the plan every day, Dave. He comes to the block
56:59
Every day, we have to do this. To see him smiling, laughing
57:05
that's everything. I don't need more. I'm outgoing. I'm mentoring people. My dream was to be a sports yst
57:16
and in terms of writing and other journalism. It's just to be able to tell stories of immigrants
57:28
that make New York City the diversity that it is. Being a disabled member of the community, it's not easy to change the narrative, but obviously, there's always gotta be a first time
57:46
There's always a first time for everything