Positive Exposure: The FRAME Project (Faces Redefining the Art of Medical Education)

– Our final special
presentation actually came from, I think our Planning
and Advisory Committee as well as the evaluations from last year, and so this is a very
special, unique presentation from Rick Guidotti, who is right here, a fashion photographer, who has done something pretty incredible called the Frame Project
and so we’re gonna let Rick do his thing. Alright. – Thank you. – Thank you. – Thank you so much. Hey, I’m so thrilled to be here. Thanks for having me. So, here’s the thing for
changing it, that would be great. So, I’ll tell you a little about, I’ll give you a little
history on Positive Exposure. I am a fashion photographer
based in New York City but I also lived in Milan
and Paris for several years and got to work with some pretty
amazing models and clients and this, of course, is
Claudia for an Elle shoot. This is Marie Claire. I did a lot of work for the
House of Ives Saint Laurent in Paris. So I lived in Paris for quite a bit. I did a lot of portraiture as well. That’s a portrait of Mr. Saint Laurent and that’s one of the images
from our global campaign. French Elle magazine. This is New York Style magazine. Marie Claire. English Marie Claire. French Elle and, of course,
here’s our beautiful, Cindy, from a Revlon shoot. So I got to work with lots of great models and lots of great clients and
I traveled around the world. I was living in Milan and it was amazing but it was also really quite frustrating ’cause I was always, always,
always told who was beautiful. You know, and I was told who
the model of the moment was and we all had to photograph that face and then it would change the next season and we’d photograph that
face the next season but I was always told who’s
beautiful and as an artist, I never, ever, ever saw and I continue never to see beauty only on covers of magazines. It exists there but it
doesn’t only exist there. I see beauty everywhere. I was leaving my studio one
afternoon in New York City, running down Park Avenue after doing a huge casting for Elle magazine. I pretty much saw every model
in town, it was amazing, but I was just running
down Park Avenue and there, waiting for the bus at Park and 20th, was this stunning girl. She had long white, white,
white hair, she had pale skin, she had this genetic
condition called albinism. I knew the terms was albino. That’s what I knew and she was stunning but I never model that
looked like this girl. She had never been included
in that beauty standard and I wanted to grab her and say I have to take your photograph, you’re amazing, but the bus came and she
got on the bus and took off. (audience laughs) And you know, I always say this, and I always say this in my presentation – I’m actually quite
pleased that the bus came because she was 12 years old
and I would be in prison. (audience laughs) So I’m glad that that didn’t happen. So she was stunning but I just ran down to the local Barnes & Noble
to find more photographs of this gorgeous girl or friends of hers with the genetic condition albinism. I went to the School of
Visual Arts in New York City so I only went to an art school. I never saw a medical textbook photograph or a medical textbook prior to that moment and there was my first medical textbook, I pulled it off the shelf
so excited to open it up to albinism to find images
of this gorgeous girl or her friends but instead
of finding those images, I found these images. I found images of the
bright red albino eye. This kid did not have bright red eyes. She had beautiful blue eyes and I saw thousands of
photographs of people in cancer clinics with great
big open festering wounds and cancers. I’m thinking this is horrible! But then even more disturbing
where the countless images that I saw of kids up against
walls in doctors’ offices, usually naked with those
black bars across their eyes standing up against the wall. See and I’m thinking this
is not what I’m looking for. Where are those photographs
of that gorgeous kid? So I very quickly closed those books. I figured, an encyclopedia! That’s where I’m gonna
find ’em but instead, and I grabbed an encyclopedia, but instead of finding
photographs of this gorgeous kid, I found the freak albino
family in the circus and then I started doing more research and I found all these
incredible negative portrayals in Hollywood feature films from Powder, who had albinism ’cause his
mother was struck by lightning when she was pregnant with him, to the Princess Bride, the pit of despair, to the Matrix Reloaded, these evil ghostlike
characters that would come and they’d wreak havoc
and then they’d disappear to even most recently, the Da Vinci Code, where the Da Vinci, it was the evil Silas driving around Paris at night shooting at people. One of the first things I
discovered in my research about albinism that
people with this condition have a visual impairment. Most people with albinism
are considered legally blind. So certainly wouldn’t
be driving around Paris and like shooting at
anybody and expect to hit any of their targets. So this is terrible
information that’s out there. I’m thinking this is getting
worse and worse and worse but I did see in one
of my research moments, I saw that there was a
support group called NOAH. NOAH’s the National
Organization for Albinism and Hypopigmentation. It’s a support group for people
living with this condition and their families. I got so excited. I called ’em instantly
and I was like, hey, I’m a fashion photographer. Let’s show the world
the beauty of albinism. This is gonna be amazing! They said, get lost. (audience laughs) You know, I’m pretty persistent,
I’m kind of a New Yorker. I don’t give up so easily. I kept going after them and asking them and trying to find out why
they told me to get lost and they eventually
made it very clear to me about their fear of exploitation, that every time there
was a magazine article about somebody with albinism, it was always the story about a victim. It was always sensational. It was always exploitative. It was always negative. I’m like, okay, I get it. I see this. I feel this. I understand this completely but that’s, I can’t find one positive
portrayal of albinism and it’s just wild. So can, why don’t we do
something strange here? Let’s form a non-traditional partnership. Fashion photographer,
genetic support group, and together we’ll collaborate and create a photographic
essay that celebrates the beauty of albinism and they agreed. I’m like, oh this is amazing! So Positive Exposure is born that day. In walks the first girl
I’m going to photograph. Her name is Christine. She’s stunning. She’s 5’9″, long white
hair, she’s amazing, but she walks into my studio
with her shoulders hunched, head down, no eye
contact, one word answers. This kid had zero self-esteem
as a direct result from the bullying, the teasing, the abuse, she experienced in the school environment because of her difference
and it was heartbreaking to see this beautiful kid
standing there like this. I didn’t know what to do. How am I gonna photograph this kid? She’s so vulnerable but just
the day before on the same set in my studio I did a Revlon
shoot with Cindy Crawford and I thought, you know, out of respect for this gorgeous kid, I’m gonna photograph her
like I would any supermodel. So the fan went on, the music went on, and I grabbed a mirror and I
held it up to her and I said, Christine, look at yourself. You’re magnificent! And this kid looked in the
mirror and saw what I saw and she went from this to this. (audience laughs) And she exploded with
a smile that literally, literally lit up New York City. That’s our beautiful Christine. (audience cheering) Thank you, thank you! (audience laughs) She loves applause. So Christine, now, she’s gonna walk into school
the next day not like this, like she normally does but like this. She desperately needed to
change the way she saw herself. Her community desperately
needed to change the way that they saw her difference. So she created that moment,
that very first photo shoot, that Positive Exposure studio, the philosophy that drives
everything that we do and that philosophy is change how you see, see how you change. Those first images were in Life Magazine. It was in an article
called Redefining Beauty. Everybody saw it. I got lots of awards for it. It was great. It kind of put albinism on the map. The Albinism Foundation was thrilled. It went to all the different
foundations worldwide. As I was doing my fashion work, I’d show up in London and
we’d do a family photo shoot at a conference there or
in the UK or in Australia or in New Zealand, we started an organization
for a support group, all over the world. It raised a lot of noise. It was fantastic. When I came back to New York City while in the middle of all this, I received an award, one of the best awards that
I ever received in my life. It was an award from this organization called the Genetic Alliance. The Genetic Alliance is a coalition of all the genetic
support groups worldwide and as they were presenting the award, they explained that they see beauty in all these gorgeous
photographs of kids with albinism but there absolutely is a
universal message here – it’s not about albinism, it’s about all differences
and they asked me, would I be interested in going to one of the other genetic support groups that they represent and take photographs celebrating the beauty
of those gorgeous kids, celebrating the beauty
of their differences for their families? I was like, what an amazing idea. Of course, I would love to do that! But, you know, I wanted
to do my due diligence. I went back to those
scary medical textbooks to find out what the heck
a chromosome 18 anomaly was ’cause that was the very next conference that they were representing. It was for the chromosome 18
registry and research society. So I figured, okay, I’m gonna go and figure it out and as I opened those medical textbooks to chromosome 18 anomalies
and that’s what I saw. It was terrifying. I saw images of kids with cleft palates. I saw images of stillborns . I saw images of doctors
turning kids’ heads like this. I saw, there were just
images of kids with tracs and feeding tubes and I, it
was trisomy 13, trisomy 18, tetrasomy 18, 18P and Q
minus and I’m thinking, this is horrible! I don’t wanna do this. Albinism was so easy compared to this. This is frightening but I
went, I had committed to this, and it was in San Antonio,
Texas and I committed. So I went to this conference
and I was terrified but I walked into this conference and went down to the auditorium
where there were kids, kids and young adults being
entertained by a clown on stage making balloon animals and I
walked into that auditorium with these horrible images
burned in my head, terrified, but I walked in and I
was instantly surrounded by kids screaming with laughter. They were kids, they were
people in that audience. They were kids with
cleft palates and tracs and feeding tubes and mobility
issues but they were people, they were kids, where were those giggles
in those photographs? These are some of the great
friends that I met right away. That’s Pauline and Rebecca. My very good friend, Ellington. Remi, Deek, and they weren’t just kids. There were some kids,
there were young adults, and their were adults. This is my great friend, Shawn. I’ve been photographing Shawn
from the day that I met him to just a few weeks ago at
my studio in New York City. My great friend, Rebecca. So it was really so incredible that like these gorgeous kids, they were people. Where were those giggles in those medical textbook photographs? I came back to New York City just inspired and really energized and revved
up to do more of this work and I was approached by
Francis Collins who was then the Director of the National
Human Genome Research Institute and he wanted to create, we were gonna create a
photographic exhibition at the Museum of Natural History
commemorating the mapping of the people’s genome. It was gonna be an
exhibition that would launch at the Smithsonian and
would travel worldwide and he wanted to see
the heterogeneity within that homogenous diagnosis of albinism. I thought, great idea but
you’re not gonna believe this, I just came back from the
chromosome 18 registry conference and I had this incredible experience. It really, really is a
universal message here. It’s about all differences. Let’s invite many genetic
support groups to participate in this human celebration,
the celebration of difference, and he agreed. So together with the Genetic
Alliance and Sharon Terry who’s the current president, we then did a great outreach
program and a campaign to invite many groups to participate. The first group that stepped up was the National Marfan Foundation. Marfan Syndrome, as you know, is a connective tissue
disorder, grow very, very tall, you’re at risk of an aortic
dissection, scoliosis, really long arms and legs
and limbs and I thought, okay, I went and did my research
and I saw that photograph and I understand the importance of that photograph in medical education, how important it was to
show how Marfan Syndrome presents itself. I get it but now let me take
over ’cause I’m an artist. Let me show the same
information in that photograph but show the most important key
ingredient that needs to be, not just shown in medical
education but embedded in medical education, and that’s humanity. Let’s show Billy in a swimming pool. Let’s show those long gorgeous arms but, and really get a sense of Marfan Syndrome but also get a sense that
it’s Billy first and foremost. So my other great friends that I started working with right away
is my great friend Caleb. Caleb is a little person. He has achondroplasia, dwarfism, a very common form of dwarfism. Caleb wants to be the
President of the United States or an actor. (audience applause) But I told him all about
Ronald Reagan and now he knows that he, and he will do
both and he’s going to, because now he knows
that Ronald Reagan did it so he can do it and that’s Caleb. This is my great friend Dr. Nadia. She was a second year medical
student in the Middle East when I met her in Education City. She has anachronism melic dysplasia, a rare form of skeletal dysplasia. She is a little person as well. She’s now finished her residency at Dayton Children’s Hospital
and doing her postdoc at Baylor in Genetics. She said all she ever needs to succeed as a doctor is a stool. She is amazing. (audience laughs) That’s our Dr. Nadia. My great friend Lily with
4P-/Wolf-Hirschshorn Syndrome. Ronan living with Prader-Willi Syndrome. Looks like Frank Sinatra, I think. (audience laughs) My beautiful Jayda living
with 22q 11.2 Deletion. Caitlin living with Cerebral Palsy. She’s a senior and deciding
on her final school selections right now which is really exciting. Simone, I do a lot of work with the National Down
Syndrome Foundations worldwide. This is the incredible
Simone who represents the National Down Syndrome
Foundation of Italy and my great friends from
the Clemson Life Program at Clemson University. Clemson Life Program is a
program that works with kids with intellectual disabilities,
brings them on campus, puts them in integrative
classrooms where they actually have great classes but they
learn all kinds of good things and they have a full on college experience and also learn, really
learn, life skills as well, and so it’s really exciting
to be part of that. We went back and we’re
rephotographing these kids at Clemson Life Program
and we’re gonna launch an exhibition there in
the next couple of weeks which is really thrilling. I go to medical schools. I go to medical schools worldwide. I speak to usually first or
second year med students, not because I really want to deliver all this medical information
to medical students but really because I can pronounce Arthrogryposis Multiplex Congenita (audience laughs) and I know what it means! I know exactly what it means, not because I ever studied
it from a textbook. I know what it means ’cause I met PJ at an Arthogryposis conference. I met PJ and a lot of
his friends with AMC. PJ’s this incredible, incredible kid and he can’t use his arms
because, or his hands, because of the type of
Arthogryposis that he has and so his family call his
eating technique his Viking dive ’cause he’ll go into his
plate of mashed potatoes and he comes up, then he goes into his plate
of peas and he comes up, then he chases his
sisters around the table with a face full of
mashed potatoes and peas. (audience laughs) You will never, ever, ever forget Arthogryposis Multiplex Congenita because you will never,
ever, ever forget PJ. I go to so many family
conferences in the summer months. Last summer, I went to
15 family conferences. They’re always from the middle
of June to the end of July, beginning of August and I go and I take a billion photographs and we gift all those photographs
back to the foundations to use on their websites and their public awareness
materials and their brochures, whatever they can do to replace
those horrifying photographs but I also now bring healthcare providers in training with me. I bring med students most importantly and genetic counseling students
and nursing students and OTs and PTs and I bring them in
and I shove them in daycare and I lock the door and
I check back in on them at the end of the day
and they’re always like a little shell shocked
and they always have like a little poop on their shoulder and then they have like gum in their hair but they’re gonna be
better healthcare providers ’cause they’re meeting these kids not in the clinical environment, they’re meeting these kids not in crisis. They’re meeting these
gorgeous kids being kids and being the individuals
and being people. So it really is incredible, making sure that we really instill and embed in early medical education that it’s never what you’re treating, it’s always, always who you’re treating. So we’ve created this program
here which I’m gonna talk a little bit more about next called FRAME. FRAME is the Faces Redefining
the Art of Medical Education. It’s an online based library featuring several genetic conditions, many genetic conditions,
physical conditions, intellectual conditions and developmental differences as well. Kinda creating opportunities
to kind of create and show and illustrate all the basic hallmarks of a certain condition but as presented by somebody living with
the condition themselves or their family members, putting front row and center
in medical education, humanity. Each gallery, they’re free to the public
and you can actually, can access all these in medical education. We have a mobile device which
I’ll give you that number in a second but it really
is creating this library that not only has these very brief films, they’re about six to seven minutes long ’cause keeping in mind that med students have very short attention spans. (audience laughs) But it really is about
offering an opportunity to really get to meet
these kids firsthand, or individuals living with
this condition firsthand. This is one of our, this is gonna be a little compilation that I’ll talk a bit about in a second. (soft music) – Hey, my name is Noah and I’d like to introduce
you to some of my friends. We all have a genetic
condition called albinism. You may have seen us in movies
or heard that we’re all evil or have magic powers or have red eyes. We’re like any other group of people, we’re all different, we’re all unique, and you will see here
the diversity among us. – Albinism affects people across the world from all ethnicities but
it’s not only in humans. It affects animals too and
all kinds of them as well. – There are two main types of Albinism – Oculocutaneous and Ocular Albinism. Oculocutaneous affects the
eyes, the skins and the hair, and Ocular affects just the eyes. – Hi! – You say it’s my birthday,
bah nah nah nah nar. – My name’s Alex. – And I’m Ezra. – And this is Cassie and Penelope. – Hello! – Hello! – And Cassie was born
with a genetic syndrome called Marfan Syndrome. – [Ezra] We wanted to
show you a feature Cassie was born with. As you can see, Cassie’s chest sinks
inward toward the middle. This is called Pectus
Excavatum but, Penelope, what is it that you call,
you and Cassie call it? – Target. – Target. – [Alex] Why do we call it a target, Cass? – [Cassie] ‘Cause Penelope
likes to shoot water at it. – Yeah, she used to laugh all the time when I put water in it. – [Rick] Why would you put water in there? – Because that’s what made her laugh. – Can you take a picture of it? – [Rick] I am, I’m doing it right now. I’m making a movie of it! – [Female Narrator] Chromosomes
are the instructions that tell our bodies
how to grow and develop. Most people have two
copies of each chromosome for a total of 46 chromosomes. Some people have 47 chromosomes. Most people who have Down
Syndrome have three copies of chromosome 21, also
known as Trisomy 21. This is caused by a sporadic
event known as non-disjunction which usually occurs prior to conception. – I’m Max. – Hi, I’m Mitch. – I’m 15 years old. It’s been a great world for me. It’s basically like an extra
chromosome and that chromosome blends in the awesomeness and
blends in all of the loyalty and, you know, I could
go on and on about it. – Me and Myles have a
rare skin called confetti. It makes us very itchy
and our skin is very scaly so be very careful when you scrub us! (laughs) (audience laughs) – Yay! It’s a web-based library. We’re building that library
and each FRAME piece is accessible on phones or on the computer but it’ll have actually the
FRAME film itself translated, they’ll be English captions and also in Spanish at the moment and we’re adding other
languages as we go along and then it also has
a photographic gallery showing the diversity
within that diagnosis or syndrome community and
then there’s also all the text that we’ll show within
the actual diagnosis and actually within the FRAME
piece that can be studied, downloaded and printed, et cetera, for notes and notekeeping. I’m really excited about,
right now to present, it’s the world premiere
of our latest and greatest FRAME piece on Fragile X Syndrome. Of course Fragile X Syndrome being the most commonly
thought of genetic condition, genetic marker for autism and I’d like to just present this now. This is actually done with a grant through the Special Hope Foundation
and helped us build our library and we’re growing and growing with this. So I’d like to introduce this. I’ve never seen this on the
screen so I’m really excited to share this with you
and I would like to ask for comments afterwards if that’s okay and you can be really critical and you can be brutal
if you like, it’s okay. So here we are, this is, oh, sorry, we’re gonna show this first. If you text the word frame to 56512, you can actually access these pieces and we have nine of them
online at the moment and five ready to go and, I think, so we’re ready to go with the next film? Is that okay? There we go. Fragile X in FRAME. Thank you. (uplifting music) – This is Brexton. He’s 22 months old and
this is our Cole Cole and he is five. – My son, Cole, was born
with a genetic condition called Fragile X Syndrome. My family and other families
hope to teach you more about this condition. Fragile X Syndrome is a genetic condition that causes intellectual
disability, behavioral, and learning challenges and various physical characteristics. Though Fragile X occurs in both genders, males are more frequently
affected than females and generally with greater severity. Life expectancy is not affected in people with Fragile X Syndrome
because there are usually no life threatening
health concerns associated with the condition. Fragile X Syndrome is caused
by mutations in the FMR1 gene. This condition has an unusual non-Mendelian inheritance pattern. Almost all cases are
caused by an expansion of the FMR1 gene on the X chromosome. Usually the FMR1 gene
includes repetitive series of CGG triplets which is
repeated in most people from five to 45 times. Individuals with Fragile X Syndrome have more than 200 repeats, silencing the activity of this gene. – [Female] Fragile X Syndrome
is diagnosed in about one in 4,000 males and
one in 8,000 females. Females typically have
milder symptoms than males, although some females may have additional behavioral
features such as shyness. Cole was diagnosed with Fragile
X when he was 22 months old. He was not walking or talking. He started with the ear
infections the month after he turned one and
for the next few months, he was on antibiotics probably
four out of the five months and we noticed that he
wasn’t really responding, we didn’t understand why. We had visited a neurologist just because the primary care physician
was a little bit confused where to put him and she said, “Well, he definitely doesn’t have autism “if that’s why you’re here but go through “with the tube surgery and
see what happens there but, “in the meantime, “why don’t we do these genetic testing “while you already have
him under anesthesia.” And so, within 24 hours of
him having the ear surgery, the tube surgery, he was
walking without support. So we assumed that it was all
to do with all that fluid. Maybe two weeks after the surgery, the neurologist called and
was completely baffled, said that she was completely shocked, was not expecting that
result at all but that he had the full mutation of Fragile X. Cole’s number was 300. – The diagnosis didn’t change who he was and he was still a super fun, happy kid and then so we kind of accepted that and have been working towards
getting the most help we can at the early age where
it can help the most. – Hi, I’m Brian. – I’m Haley. – Justin’s 15. We got diagnosed with
Fragile X on or around when he was five years old after his first Grand Mal seizure. About 20% of all kids with
Fragile X have seizures. Haley’s been an amazing sister. She has always supported Justin fully and she even has a saying which is, Justin is her social barometer
and if there was anybody who wanted to be her
friend, come into the house, or be a part of her life, – He has to meet Justin. – If they did not get along
with Justin or accept Justin for who he was, that was the end of that relationship and she would move onto whomever would be open and welcoming. Many males with Fragile X
Syndrome are likely to have the following features: long, narrow face, large ears,
prominent jaws and forehead. Approximately half of
females with Fragile X also have these features. flexible fingers, flat
feet and enlarged testicles can also be seen after puberty. These features may become
more apparent with age. – [Haley] Pre-pubertal males
tend to have normal growth but large occipitofrontal
head circumference. – I’m Tara. – I’m Steve. – I’m Jason. – Andrew. – Andrew was diagnosed first with the autism spectrum disorder, just the generic PDDNOS and
the doctor we were seeing said, “I think you need some other testing. “He doesn’t quite fit
all the characteristics “’cause he’s so social.” Lo and behold, we got a
call that they were shocked that he had it and so that began
our journey with Fragile X. Jason was born and they said, oh, he’s probably gonna be a carrier. – [Steve] It turned out
that he was full Fragile X. – [Tara] Yes. – [Steve] Whereas Andrew is a mosaic.
– [Tara] Mosaic. So two completely different presentations and two completely different answers. – A highly characteristic
behavioral feature of Fragile X is males and
females is gaze aversion, a distinctive type of poor
eye contact where the person actively diverts his or her eyes. Hand flapping and hand
biting are nearly universal in young boys and most
girls with Fragile X. While the physical features
of Fragile X Syndrome can be very subtle in
pre-pubertal children, the triad of gaze aversion, hand flapping and hand
biting in young children with global developmental delay, is highly suggestive
of Fragile X Syndrome. Expressive language has
been delayed significantly. It seems as if that has
been his biggest hit but it’s coming and so
he’s at the point now where he’ll ask questions. So that’s coming. The other thing is the
attention and the hyperactivity and he definitely has
both of those things, especially in a learning
environment where the classroom is structured so that you have eight desks all sitting in one direction,
listening to a lecture, and that’s probably not
going to fit him. (laughs) – So one of the advantages
is, he loves electronics. So any kind of therapeutic stuff that we can get on the
iPads and on his iPod work out well for him ’cause he likes to do the electronic piece. He’s more of a follower. He likes to watch him
do the stuff. (laughs) – Andrew’s mainstreamed for
social studies and science and art and music and gym. Part of the day he goes to his
support classes for reading, math and english. – One of the most interesting
things about Justin is, in order for him to
cognitively figure things out, he does it in forms of
questions and I know this is very typical with Fragile X and so he has a set of questions
that he will go through over and over and over
again but it’s a way for him to get information. Right, Justin? – Mm Hmm (affirmative). – Awesome, right? Can I get a high five? – [Tara] When there is
an interest in a subject, there’s a zero in on a focus
for what they can learn and what they really can do. – So it’s a matter of just
finding what interests them and then using it to your
advantage to help them improve their skills. – [Haley] With Fragile X Syndrome, there is also a higher prevalence
of mitral valve prolapse than in the general population. Other medical conditions
that can be seen as part of Fragile X Syndrome include: recurrent otitis media
and hypotonia in infancy. Approximately 15% of
males and 5% of females with Fragile X have seizures. – I typically look at
three different levers when you think about anyone
associated with Fragile X. You have an anxiety lever,
you have a behavioral lever, and then you have a mental
impairment lever and so, because it’s a syndrome, you know, everyone affected by Fragile
X has a different portion of each of those levers and so, in Justin’s case, he
has debilitating anxiety which really hurts him
with the transitions and actually just being
ready to do things. On the mental impairment side, he’s actually higher on
the cognitive ability. His puzzle ability, his ability
to think, it’s all in there. We say that all the time. Just waiting for it to all, to come out, but his behaviors
associated with his anxiety are typically very bad
especially when he was younger. – [Haley] Behaviors in males
with Fragile X Syndrome often include: tactile defensiveness, poor
eye contact, repetitive speech, problems in impulse control
control and distractibility. A majority of boys and many
girls with Fragile X Syndrome exhibit features of
autism spectrum disorder. – It takes time to figure it out, figure out what works for your kid, ’cause every kid truly is different. We have two and they
respond differently (laughs) to different things just
like any other two kids we would’ve had would respond differently. – He’s brightened many
a people’s life, I feel, with his smiles and his happiness. – And I don’t know if that’s
necessarily a Fragile X thing or that’s a Cole thing
but we like it. (laughs) (light uplifting music) (audience applause) – Yay! Well, that was kind of exciting. I love seeing that. There we go. So I am gonna ask for, does anybody have any
comments or criticism or help with this? ‘Cause we really want
this to be a really useful and great tool but we want it, I won’t be insulted, I promise. Yes? – [Female] I just want to say
that, generally, (inaudible) – Yeah, of course. – [Female] And if I had
something like this available, I would so much rather look
at that than (inaudible), anyday. – Yay. Hello. (laughs) (audience claps) Thank you for that. Me too, me too, me too. Thank you and we’re building that library. Yes. – [Female] Yeah, I just want
to say how important it is to change the culture
from a medical (inaudible) because just like all
the stuff we saw today about cultural perspective,
our culture, you know, really disempowers and looks
at people with disability, even the medical people who
are supposedly detached, have that frame of reference because — – Sure. – It’s not as human — – Sure, sure. – And this is, like this kind
of thing, helps change that. – Right. Thank you, thank, that’s it, and that’s kind of why we’re doing this is really to bring in, to make sure that we understand and we can present the
healthcare providers in training, embed early in their education, that the families are also
part of that treatment. Nobody’s gonna know more about that kid than his mother or father. They’re not gonna know, they’re definitely gonna
know more than that doctor so the idea is, and just listening over the last 20 years with Positive Exposure really
making these relationships and bringing all and
hearing all these voices and translating that to create a new model that adds humanity and
medical education is so key. Yes, sir? – [Male] (inaudible) – Mm Hmm (affirmative). Sure. – [Male] It took me as many
years to get (inaudible). – Great. Awesome. Great, that’s amazing. Yes. – [Male] I want to say like everybody else that I love (inaudible). The only other comment that I can make — – Sure. – [Male] You had a few
pictures of women and color. I would love to see more
women and young women of color if they would be willing
in a final product. – Okay and that’s, perfect
and that’s a great criticism and what we’re doing is, we’re using this, now I’ve been to several
Fragile X conferences and the next one we’re gonna
go and we’ll premiere it to the families ’cause it
turns out that not only does this work for healthcare
providers in training but it’s also great for
families to introduce the condition in the school
environment for the kids. What we’ll do is we’ll
be adding onto this. So these are all housed on a website, on our PositiveExposure.org site. It’s under FRAME and then
you can pull up all that and we’re gonna be adding various
films and various friends. So we have the one day of shoot
just for financial reasons. We just shoot the one shoot
and we want everybody to come and they come but then we’re
gonna keep building on this and all the actual websites
that have all the up to date, pertinent information, whether
it be the support group, advocacy for families or
really up to date information, medical information, will all
be listed on this site as well so it will become, eventually, a one, kind of a pure 100% resource for all these genetic conditions. It will be pretty exciting. Thank you. Yes. – [Female] (inaudible) – Sure. Sure. Great. Sure, wonderful. Thank you. Yes. – [Female] (inaudible) – Sure, of course. Great, thank you. Well, when we create these, we create these with a
whole team of geneticists but also med students,
genetic counseling students, family members, the
advocacy support groups. So what we’re also trying to
do and one of the criteria, the main criteria, is to forge new relationships
and new friendships with people that generally
don’t speak to one another although they’re all in
the same service industry but they don’t see or hear one another and then we’re bringing them all in here so now these are friendships
that are gonna be formed and forged for life so
it’s really exciting. So I’d like to show an additional one. I have one more. This one will be on Down Syndrome. So I thought it was appropriate for this. So we can go to the next one, thanks. Alright, maybe I can change it myself. Oh, maybe? I think so. Can we get that? (light uplifting music) – Hi, my name is David and I am here with some of my friends. We are here today to talk
to you about Down Syndrome. – So when Henry was born, he got the regular kind of once over and he had what they initially
said to us very cautiously was that he had features
suggestive of Down Syndrome and I was kind of stunned
by these tiny features that seemed to be so
telling to the doctors. So the low muscle tone,
we could definitely see, but then his little finger is a little bit crooked they said. His ears were small. He had a shallow bridge
of the nose, tiny little, his eyes were maybe more widely
set than someone else’s eyes so it was remarkable to me
that all of these tiny signals could add up to something. So we then did the blood
test and so the diagnosis was confirmed about two weeks later. Chromosomes are the instructions
that tell our bodies how to grow and develop. Most people have two
copies of each chromosome for a total of 46 chromosomes. Some people have 47 chromosomes. Most people who have Down Syndrome, have three copies of chromosome
21 also known as Trisomy 21. This is caused by a sporadic
event known as non-disjunction which usually occurs prior to conception. – Each child is unique
and special (laughs) and has specific needs that are different. Get to know the person
that you’re working with. The diagnosis can be the
same but each individual is an individual. Children with Down Syndrome are expected to reach developmental
milestones as other children, however, it may take a little bit longer than other children. People with Down Syndrome have characteristic facial features. For example, you may see folds of the skin on the inner corner of their
eyes called epicanthal folds. You may notice that the
nose looks a little flatter at the top between the eyes. This is called a depressed nasal bridge. Individuals may have eyes
that slant slightly upward which is called upslanting
palpebral fissures. Another physical feature
commonly seen in Down Syndrome is called a single palmar crease. This used to be called a simian
crease but has been changed to better describe this feature. This is when someone has one crease that goes across the hand. About half of people with
Down Syndrome have this crease on at least one hand. It develops during the fetal period. These features don’t
cause problems in children with Down Syndrome. People without the syndrome can also have some of
these features as well. – I’m Max. – Hi, I’m Mitch. – I’m 15 years old. It’s been a great world for me. It’s basically like an extra chromosome and that chromosome
blends in the awesomeness and blends in all of the
loyalty and, you know, I could go on and on about it but this person sitting right here because he is the light of the future. I love him and I got to just say this but this son of a gun is part of (inaudible). I love you. – I love you too. – ‘Cause everyone with
Down Syndrome is unique, different people with Down Syndrome have different abilities. Max shows us what he can do and we celebrate those achievements as we would with our other child who does not have Down Syndrome. – Hi, I’m Erica and this is my mom, Norma. I love to dance. I choreograph my own dances. – Some health problems are
more common among people with Down Syndrome than
the general population. Between 40 and 60% of children
born with Down Syndrome will have a congenital heart defect. About five to 10% of
people with Down Syndrome are born with an intestinal blockage called duodenal atresia, others will have gastroesophageal reflux. Some other specific digestive
conditions can also be seen more commonly than in
the general population. AV canal, a specific heart defect, is more common in babies with
Down Syndrome than without. An AV canal occurs when
the septum that separates the left and right sides of
the heart has a hole in it. This also causes the valves
that separate the upper part and the lower part of the
heart to not form properly. Instead of two valves,
there’s only one large valve. The hearts of people with
an AV canal must work harder than a typical heart which can
cause it to become enlarged if it is not repaired. – I’m Lisa. – I’m Gina. – I’m Angelo. – [Lisa] Sometimes people with
Down Syndrome have a tongue that actually looks a little bit bigger than it typically is and this
is called a protruding tongue. In some cases, the
tongue is a little larger than the typical size and
this is known as macroglossia and, in other cases, the mouth may be slightly smaller which gives the appearance of a tongue actually being enlarged
and, in other cases, the protrusion may just
be due to poor muscle tone and this is called hypotonia. – The fears and what you have
in your mind as far as what your child is gonna be like and what the worst case scenarios
that go through your mind and then the reality, once the person is born,
once Angelo was born, it couldn’t have been more different. – My name’s Anthony. I’m also known as Aedon’s daddy. – I’m Jordana. I’m Aedon’s mom. Who are you? – No! (both laugh) – This is Aedon. When you look at Aedon, you will see a very active, healthy, seven and a half year old
which he absolutely is but when you scratch the
surface a little bit, I’ll just go down the list
of the things that Aedon has that are frequently
diagnosed with children with Down Syndrome. He has hypothyroidism. He wears bilateral SMO
orthotics to help him ambulate and he’s been wearing those
since he was two years old and they were crucial for
him to develop independence and walking. He also has glasses for astigmatism. He also did have surgery
to remove his tonsils and shave his adenoids
for severe sleep apnea and then he has recently
been diagnosed with ADHD. – The first thing is to
congratulate the family. Again, the nurses are wonderful
congratulating the families. The doctors don’t do that right away, they’re not sure of how
the family feels about it but I think no matter
what the family feels, it’s just congratulate, a child is born, and that’s the first thing they should do is congratulate you and say, “You have this beautiful child “and they happen to have Down Syndrome.” That’s how our doctor, our
pediatrician, had the approach. He was the first person
to congratulate us. – [Sean] Children with Down Syndrome may also have hearing infections more than the children
without Down Syndrome. There are also other
problems that could happen with the ears, nose and throat
in people with Down Syndrome. – Of course, she had heart surgery, right? June 2005, she was 22 months
old and in December 2006, she had her tonsils and adenoids out. – A lot of kids with Down Syndrome are just slightly more
complicated medically and so Max had his own complications. He was hypothyroid. He was very congested so
he had a bunch of adenoids and tubes and things like that. He’s got sleep apnea so
he doesn’t sleep great but now that he wears the pilot
mask he sleeps much better but he’s reasonably robust. He’s one of the stronger people I know, hits the golf ball a mile, he
remembers everybody’s name. He’s the best speller at his school. So, yeah, there’s some, it’s a complicated puzzle
but once you figure it out, it’s really, really fun. (light uplifting music) (audience applause) – So excited. It’s so much fun to work
on these FRAME pieces ’cause they’re really, once again, it’s about the experience
of bringing the families in, empowering our ambassadors
and their families and then our communities
and really presenting these to healthcare providers in training but, of course, as I side earlier, families are using
these to introduce these in the classroom environment
and the social arenas as well. We’ve created so, we have
10 right now on our site. We’ve just finished 22Q
1.2 Deletion in FRAME in collaboration with
Nationwide Children’s Hospital. We created a Cystic Fibrosis
in FRAME in collaboration with Harvard Brigham and
Women’s, the Lung Center, and Children’s Hospital – Boston. We’ve created and there are
others that are on our website. Our next step that we’re
creating is we’re looking at creating autism in FRAME. We’re creating opportunities
to really kind of look beyond the diagnosis to show the diversity within that diagnosis, really targeting healthcare providers and breaking that fear and that
stigma that would be there. Also looking at intellectual
disabilities as well, creating much more of a
symptomatic but really kind of creating opportunities
to start that dialogue in the healthcare education community and then looking at also Cerebral
Palsy, we’re gonna create, and then looking at and
taking it even further, we’re looking at Fetal
Alcohol Syndrome as well but we’re also, we’re approached by, I speak to medical schools
everywhere as I told you and I was speaking, I speak every year at the
Uniformed Services University which is the medical school that serve, that trains health, medical
docs all of our military docs and a lot of their healthcare
providers in training their docs seen elevated
amount of trauma ’cause, of course, they’re
practicing on the war plains and so they’ve approached
me to create a Frame piece and we just got the grant
to do that on limb salvage, amputation and prosthetics
and creating opportunities for those healthcare
providers to really then see the diversity and all the
things that are available in collaboration with Walter Reed and the Wounded Warriors as well. But taking the same message
and going everywhere that I do, everywhere in the world, I go to, I speak not only to healthcare providers and conferences like this one
but I also speak to students. I go to, I’m very much involved with the American
Society of Human Genetics and we travel and it’s a
huge genetics organization and wherever, there’s
an annual conference, and wherever that
conference happens to be, we then invite the local
high schools to come and the kids that are
in the science track, the biology majors but sometimes just kids that are curious about genetics and we hold a full day
symposium on genetics and I usually end that one with
a Positive Exposure message and celebrating difference. A couple of years ago I
was honored with the task of being with the judge,
or one of the judges, on their Teen Gene
Genetics Video Challenge which is really exciting. We’re talking to teens
in the genetics community and we’re talking to teens
in the high school community and asking them to
create something special that would really kind of be, that would really talk
about how does genetics affect your life and let’s talk about this and these kids would create
these beautiful short videos and we would present those
and somebody would win. Well, the winners last
year, I’m so lucky to say, are right here with us right here today. So Cindy, Rare-all, could you
stand up for a second, please? (audience applause) These are the winners of
the last, and they chose, and they’re just the most
amazing high school seniors. They’re incredible and they
actually, their video challenge, their Teen Gene Video Challenge
was on the CRISPR gene and it was magnificent
and part of their prize which besides a monetary support, they also go to Skype with me for an hour so we talked about photography
and fashion and beauty and work and arts and these gorgeous kids were so inspired that they continued, wanted to continue to be
part of Positive Exposure and they just sent me a
little piece that I’d like to share with you right now. It’s only, it’s really short but this is their
introduction and their take on a Positive Exposure introduction. (people chattering) (uplifting music) (audience applause) – The whole, FRAME, all the work that we do
especially with FRAME, taking this into the high
school communities now as well is to inspire our young artists, our young scientists,
our young geneticists, just but really kind of, again, embedding it in our community, growing up as who we are that we know that we all need to see, of course, beyond
diagnosis, beyond disease, to that person standing
there in front of us. All the photographs
and all the exhibitions and all the frame pieces are
part of this one philosophy that really is about creating
opportunities to not stare or look away ’cause we know
after so many years of working with that community that
that looking away is so often more painful than the stares, but to create opportunities
for healthcare providers in training but communities,
let’s just steady that glance, steady that gaze long enough
to see beauty in diversity, to see beauty in difference
and then once you see that, you’re completely just
overwhelmed and empowered with this new sense of what beautiful is. Then you see beyond
that difference to what we all share which, of
course, is humanity. That’s the basic mission
of Positive Exposure. I think we have just a few
minutes, I’d like to maybe end, but first before I do
that, I’d like to ask some, are there any other questions
or anybody comments, any comments on the Down Syndrome in FRAME which might be helpful? Doesn’t have to be a good comment. It could be a bad comment. Yes, sir. – [Male] Just the only thing
is that maybe on the thing, to have a little more (inaudible) – Mm Hmm (affirmative). – [Male] And the other question I have is, on the other end of this, any progress towards
getting positive images of different kind of
people in teen magazines and Cosmo and Seventeen? – Oh, it’s startin’ to happen. (laughs) It’s starting to happen slowly
but surely and it really is, what’s happening, there’s
this gorgeous girl, her name is Winnie Harlow
and she has vitiligo and she’s doing campaigns now. There’s a gorgeous girl
with Down Syndrome, Theresa, who’s now walking the runway in London and there’s a beautiful video
that’s going viral right now, today, I just saw, it was
all over Facebook today, of this fashion show of
people in wheelchairs with prosthetics as well but
it really is about seeing this beauty and seeing
beauty in difference. So, it’s, again, I don’t think
Vogue magazine is quite ready to put someone with a
disability on the cover but for sure they’re
gonna start recognizing that there’s beauty there and there’s commerce there as well. Thank you, sir. Yes. – [Female] So do you pitch to magazines? – I don’t pitch to magazines. I’ve done lots, we’ve done
several pieces, the first, of course, Life magazine. I’ve done stories in
People and things like that but I don’t really
pitch it ’cause I don’t, we’re not trying to create
to squeeze these kids and all of our great ambassadors
into the beauty standard. We’re trying, and make it so
that, oh, look, that’s nice, we’re trying to create a brand
new one and the brand new one that needs to exist, it has to be, it’s not
about pitching this, it’s about someone
coming to the realization that the beauty exists here
and it’s beauty everywhere. Now as a fashion photographer, people say, oh, everything’s changed. You were shooting fashion
models and super stars and now you’re photographing
genetic diseases. I’m like, well, I’ve never photographed a
genetic disease in my life. It’s always only people and
the most important thing is it’s always beauty so
nothing’s changed for me. It’s still about capturing
beauty but it’s about presenting that beauty in a way that
we’re all given the freedom to see and to embrace. So I don’t want to kind
of make all these great, amazing ambassadors
squeeze into the parameters of that beauty standard
but create this new one. (audience applause) Thanks. Thank you. Yay! Woo! Yes? – [Female] Are you planning to add adults? – Yes, that was my comment. – Great, I, absolutely. In fact, we absolutely are. In fact, we’ve created the next series. In fact, if there’s time, I probably won’t have time to stay but I could show the one on CF, it’s all adults, but we’re presenting, it’s so important that we do it, and we make sure it’s
inclusive of all ages for sure. Yes? – [Female] (inaudible) – Yes. It would be so great. Budget doesn’t allow that
just yet but it’s coming, I’m sure of it. We have to be very, we really
got stick with the budgets but I love that idea and I travel so much. I’m off to Ecuador tomorrow so
we’ll be photographing there. So it’s gonna be amazing. – If you get to the airport on time. – If, yeah, yeah, I know, I know. – So you really need to go. – Just a comment. I first experienced Rick’s presentation when he was a keynoter at the American Academy of
Pediatrics National Convention in Washington, D.C. Some 15 or 20,000 pediatricians
from all over the country. – That was scary! – And other countries too. You blew us away and
you did again tonight. Thank you. – Thank you so much. (audience applause and cheering) – Oh, thank you.

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