- [Cameraman] Sadie, can
I ask you a question? - He's got a question for you. Let me hold this. Let's listen. Let's listen to what his question is. - [Cameraman] What do you
like to do with your mom? - My mom? - What do you and mommy like to do? Hmm? Do you like to cuddle with mommy? Can you tell him? Can you tell him we like to cuddle? - Cuddle. - Cuddle. - I love to cuddle. - You love to cuddle? (mom giggling) Do you love mommy? Tell him you're a mommy's girl. Are you a mommy's girl? - [Cameraman] Tell me all about Sadie. - Okay. (grandma giggling) - Sadie is the light of our lives. She is everything we focus on and we are just thankful we have her. - Look. - We just have fun and we
make sure we're all happy. - Can you say I love mommy? - I love mommy. - You do? - I love you, too. - [Cameraman] Was there a time recently where she could more easily
communicate things like that? - Yes. We have noticed in the
past probably several, it's been several months that she has not been as good communicating. - [Cameraman] What does
Sadie call each of you? - She calls me Papa and Lisa is Mimi. - [Cameraman] Sadie, do
you love Papa and Mimi? - Yeah. I love Papa and Mimi. - [Cameraman] Do you love them a lot? - Papa and Mimi. - I love you, Papa.
- Give me sug. - Aw. - It really changes the
way you look at things when you have a child
with a terminal illness. - And she's six years
old and she's so smart and we're so proud of her. - I'm smart. - She's smart, yes. And she's amazing. That's what we tell her. She's so amazing. - [Cameraman] What is Sanfilippo syndrome? - So the easiest way
to describe it is it's a type of childhood
Alzheimer's or dementia. - Say, "Hey Chris." - Hi, Chris. - [Cameraman] Hi, Sadie. Thank you for waving to me. What does Sadie call each of you? - I'm Grammy, supposed to be, but it can be anywhere from
grandma to grandma to whatever. - I'm just Papi. Sometimes I'm Papa. We get Papa and Papi confused
a little bit, but I'm Papi. - [Cameraman] If you had to
introduce Sadie to the world, what would you say? - This is my beautiful granddaughter. I mean, I don't know. She is the happiest child in the world. I've never known a child
that had more joy and more... I mean, she's just happy all the time. - It's not an easy disease
as the kid or as the parent. It's a hard thing to deal with, even though on social media, we usually show the happy times. There are still, you know, we still know what's coming
and it's a hard disease. We try to live in the moment and I think that's what helps
me get through the day, is I don't really look to the future. I just, the here and now and
living each day to the fullest and making all the memories and doing all the fun things with her. - I think it's the way you survive it. If I thought about what was happening six months from now with her, I think it would just be
too sad to live, you know? Honestly. So you think about what
you've got right now. - Yeah, yeah. I mean, it's just the natural reaction to knowing that the time is limited and we have to make the most of it. - I wish you could've met
this little girl, though, six months ago. She was much more engaged and she would've been helping
you film this video. - Oh yeah, she would've
been all over that. - [Cameraman] Sadie, can I sit beside you
and we'll have some fun? - Can he sit right here? - [Cameraman] We'll be friends. - You wanna be friends? - With him. - He's coming to sit with us.
- We're gonna be friends! - Yay! - Can I be your friend? - Yes. - Yes. - Thank you for being my friend. - Oh yeah, you see? Look. - Look at us.
- You can see you now. - Look. Wave. Say hey to Sadie. - Hi, everyone. - Say, "Hey friends." - Does Sadie like making new friends? Do you like making new friends, Sadie? - I'm making my friends. - You're making friends? - I mean, I'll have my
moments where I think of the future and it, you know, I'll have my little temper tantrum or have a breakdown or whatever, but I have to be present for her and I have to make life great for her and that's what I do. So I really try not to think
about the future, like at all. And I mean, it's just a sad
thing to think about, too. I just don't. - [Cameraman] What do you want others to know about Sanfilippo syndrome? - It's a devastating disease. It's like this precious
little thing that we have here is slowly disappearing. It's just incrementally, little pieces are going away
and it's a really sad disease. - Do you like for Mimi to sing to you? - Papa, Papa. - What? - Get your picture made. - Yeah. He's getting his picture made. - Yep. - We're you getting her picture made. - Tell Chris, "Mimi and Sadie sing." We like to sing. You wanna sing a song? ♪ Sunshine on my shoulders makes me ♪ ♪ Happy ♪ ♪ Sunshine in my eyes can make me ♪ ♪ Cry ♪ ♪ Sunshine on the water looks so ♪ ♪ Lovely ♪ ♪ Sunshine almost all the time makes me ♪ ♪ High ♪ - She used to sing all kinds
of songs and now it's more like we kind of have to help
her through the song. ♪ If I had a wish ♪ ♪ That I could wish for you ♪ ♪ I'd make a wish ♪ ♪ Sure to make you smile ♪ - She lacks an enzyme in her body that breaks down heparan sulfate. Sadie. Which builds up in her brain
and then causes all kinds of issues all over her body,
not just cognitively, it causes motor issues. Kids with Sanfilippo
also have frizzy hair, they have bushy eyebrows,
they have facial features. - But there was a time when she would sing that song with me
all the way through. But she can get the words now. She can think of the words. - So that's where it's gone in the last, we think, year or so. - [Cameraman] What has it been like to witness that regression? - Well, it's reality and so
I'm thankful for every day. I mean, I wish it were not that way, but it is and we're just
thankful we have her. She's still here. She's still in there,
so we still have her. - It causes deterioration
in her entire body. So, eventually, she loses
her ability to talk, to walk, to feed herself. It really does kind of follow
the path of Alzheimer's. The life expectancy is only around 15, so it's one of those things that it's a devastating diagnosis
and it's something that there's no treatment, there's no cure. - Sadie, I heard that you
love the song "Let It Go." And you're not gonna believe this, but I do an excellent
rendition of "Let It Go." - Uh oh. - Would you like to hear me sing it? - Can you tell him to sing "Let It Go?" Say please. - Please do it. ♪ Let it go ♪ ♪ Let it go ♪ - And that's all I know, but
it was excellent, wasn't it? - Did it Anna?
- Was that good? - Tell him good job. - Did you say Anna? - Anna. - Is Anna the one who sings it? - It's sung by Elsa.
- Well, you sing it, then. - Do you wanna sing it together? - Yes, mommy. - You can play Anna.
- Can you sing "Let It Go?" ♪ Let it go ♪ - Great job. - Good job. - Ready? We can sing it together. - Can you tell him he did a good job? - Good job. - Thank you. We all did a good job. ♪ Let it go. ♪ ♪ Let it go. ♪ - You do it. ♪ Let it go ♪ - Good job. ♪ Let it go ♪ - Yes. - Him. - What? - Look at him. - What about him? - He sit here. - What? - Sit here. - Oh, you want him to come sit with you? - [Cameraman] Can I ask you
and you're aunt some questions first and then I'll sit beside
you like I did with your mom? Tell me about your
relationship with Sadie. - Well, I'm her auntie. - Yeah. - Am I your favorite auntie? Who's your favorite auntie? - You're favorite auntie. - Yes. - You're favorite auntie. - Thank you. - My favorite auntie. - She's got multiple aunties and so... - You're my favorite auntie. - She's always been clear
that I'm her favorite. But yeah, I think it's just because I'm the only one that doesn't live here. But I try to get back and spend, you know, a week with her probably every
other month or so if I can. And we go on lots of trips, don't we? We go to "Disney World" and "Legoland" and "Peppa Pig's" house. And she even comes to
Nashville to visit me. - Want him. - And she likes Papa's
phone to watch Sesame... - Street. - Yup. Who's on "Sesame Street?" - Who's your favorite? What's his name? - Elmo. - Elmo and... - Simba. - Simba? How 'bout Elmo and Abby. - Elmo and Abby. - That's her favorite
"Sesame Street" characters. - Are you ready for a
big, important question? Here's my question. - Uh oh. - Who is better? Mickey or Elmo? - Elmo. - Elmo. - Let me find Elmo. Where's Elmo hiding? - Is he hiding at mommy's house? I don't know. I bet he's hiding somewhere. We'll find him in a little bit. - Mommy gonna find Elmo.
- We'll find him in a minute. - [Cameraman] They call
Sanfilippo syndrome childhood dementia. If you have known somebody with dementia, would you say that's an
accurate name for it? - Yes, yes.
- yeah, very accurate. - And we have known people,
so yes, very accurate. - [Cameraman] How are they similar? - Well, obviously, they
don't remember things. - What's his name? - What's his name? You tell me. (Sadie babbling) What? - [Cameraman] Is my name Steve or Chris? - Sit with us. Go on over to that side. - Go over to that side? What's his name? - Go on that side. - [Cameraman] Do you
want me to go over here? - Over to that side. - [Cameraman] Over that side? - She has strong opinions. - [Cameraman] You got it. I'm going over here. How's that? - How was that? That was numbers. - That was what? - That was numbers. - It was numbers? Okay. Here, come here. - [Cameraman] Do you
always know everything Sadie is trying to communicate? - No. It's definitely getting harder
to know what she's saying. - How was it? No, that was not a number four. - It was not a number. It is frustrating and I hate when I can't understand what she's saying. - Papa, Papa. - I also try to make her not
feel bad about it or know that I don't understand. I think a lot of times when she says, what is this or what's your name, it's her just wanting to talk. And so you meet her where
she's at and, you know, you have conversations that
don't always make sense, but it makes her feel like
she's having conversations, so that's great. - She's not great at communication
and going back and forth. That's hard for her. She'll still tell you
like her wants and needs, like if she's hungry or if she's thirsty or if she wants some ice cream. - You like ice cream? - I want ice cream. - What flavor ice cream? - Do you like vanilla?
- Blue. - She likes blue ice cream. - Blue ice cream? I didn't even know such a thing existed. - That's her favorite color. She wants blue cake, blue ice cream, blue cookies, all of the blue. - Purple. - Oh, purple's my favorite color. - Do you put sprinkles on your ice cream? - On my ice cream. - We might get ice cream later. - Excuse me. - I want ice cream. - I bet Jessica has
some ice cream for you. - Can you talk to Chris just a minute? - Can you say "Hey Chris?"
- Hey, Chris. - [Cameraman] It's really nice
being here with you, Sadie. - Hey, Chris. - Say "It's nice being in
here with you too, Chris." - It's to be, Chris. - Yeah. - Can you say, "It's nice to meet you?" - Yes. - Can you say "It's nice to meet you?" - Chris. - Chris. - [Cameraman] It's nice
to meet you, Sadie. - Just six months ago, she
could've said "Nice to meet you." And it might still come
10 minutes from now. Mighten it? She used to be terrified of dogs. We've got a next door neighbor that we go out to see when he's outside and he's got a little, tiny
Yorkie and she's been terrified of that dog forever, but now, we've forgotten that we're scared. So now we can rub the dog. So there are some things that, you know, when you forget your fear. - Tell Chris what your favorite color is. What's your favorite color? - I wanna know your favorite color. - What's your favorite color? - What's your favorite color? - What's your favorite color? - What color is Chris's shirt? - Blue, green, purple. - Look what color Chris' shirt is. - Mommy. - And tell him your favorite color. Look. What's your favorite color? - My favorite color is pink. - No, it's not. - My pink. - You always say it's this color. - Pink. - Did you change your favorite color? - Has it changed? It's been blue for a long time. Look, he's got a blue shirt on. - He wore your favorite color. - If I knew it was pink,
I would've wore pink. I've noticed that Sadie has a lot of motor coordination tics,
if you'll call it that. She'll flail her hands or grab her hair or grabs someone's earrings. - Yeah. - [Cameraman] Can you explain how that is part of the diagnosis? - So, impulse control, she
lacks the impulse control, so she's very impulsive
and she does, you know, all of these things. That is part of her diagnosis. And also, hyperactivity. So sometimes, you know, she elopes a lot. When we're in parking lots, I don't hold her hand. I kind of grip her wrist so that she doesn't run out into traffic. - Get him. - Get him? What do you want me to get him for? - Get him. He needs to get his seat. - Oh, you need to get your seat. He's got his seat. - No. - No? - You take your seat. - [Cameraman] Is there
a better seat for me? - Where do you want him to sit? Where do you want him to sit? Right here? - [Cameraman] Do you
want me to sit with you and ask some questions? - Apparently so. - All right. I'll sit with you for a little
bit then I'll go back behind the camera and ask you and
your aunt some questions. So Sadie is very friendly and social. - Yes, she is. - Hi. - And she's bossy. - High five? - High five. - High five.
- Good job. - High five to Jessica. - High five.
- High five. - High five. - High five. - [Cameraman] Sadie, what do you like to do with Papa and Mimi? - Papa. - Say we like to go to the beach. - The beach, Papa. - Do you like to come to
Mimi and Papa's house? - Papa. Papa. Papa. - [Cameraman] You go to the
beach with Papa and Mimi? - Say yes.
- Papa, Papa. - And we go on the beach and build what? - Water. - Yup, and sand.
- We'll go in the water. - Sandcastle. - [Cameraman] You build a sandcastle? - And what do you have at Mimi's house? Mimi and Papa have two... - Cats. - Cat, kitty cats. What are their names? - What's their names? Simba. Simba. - And Milo. - Simba and Milo are our kitty cats. So when she comes to Mimi and Papa's, she plays with and
checks on Simba and Milo. - [Cameraman] I love cats. They go woof, woof, right? - Woof. - No. Cats do what? - What's a kitty say? - Meow. - Meow. Ain't she smart? - [Cameraman] I was joking. I'm silly. Cats go meow. - And tell him you have a jeep
to ride at Mimi and Papa's. A pink jeep. - And we visit neighbor... - Bill.
- Bill and neighbor... - Kay.
- Kay. - When we go to Mimi and Papa's. - [Cameraman] How would
you describe Sanfilippo to somebody who hasn't heard of it yet? - It is a single genetic defect that is inherited from both parents. And basically, she just, she lacks an enzyme that breaks down a toxic substance in her body. - My body. My body. - And over time, the substance builds up. - My body! - And causes damage to her body and brain. - My body! - The easiest way to describe
it is childhood dementia, but it's really a lot more than that because it does impact the whole body. - They have no impulse control, so it's kind of like a
sporadic thing here and there. She'll throw stuff. So yeah, that's part of her disease. - [Cameraman] So it's not something she's really consciously doing? - No. She doesn't really realize that she's doing all these things
'cause she wants her chewy, but she's trying to also throw it. And that's another thing is the chewy. They have an oral fixation. The chewies help them with that. They need to chew on something. Like, if I don't have this chewy, she'll chew on her iPad or
she'll chew on some kind of toy or she'll chew on her hands
or her shirt or whatever. So the chewies work great
to help control that. Like you can see, she's throwing it, but she actually needs it 'cause
she's got it in her mouth. So it's kind of an
uncontrollable impulse thing. - You know, a lot of
kids with this condition, they are in strollers and she is actually, her mom has ordered one for her, but it's just to keep them safe because they do run off like
into roads and whatnot. - Will you show me what our picture made? - Do you like getting your picture made? - Get your picture made. - And because they tend to fall. - Getting your picture
made is so much fun. - Let's just stay right here. We can't touch it, we can't touch it. - It does seem like Sadie
really enjoys social interaction and connecting with others
- She does. - Is she like that all the time or does it come and go in waves? - She's pretty much
like this all the time. - I love my picture. - You love it, I know. We can love it from here. She used to be kind of
scared of other kids, but since starting school, she's gotten... Let's leave it, let's
leave it, let's leave it. - Papi wants to watch "Peppa Pig." - Papi wants to watch "Peppa Pig?" Okay. - And it's fun to watch her
flip through the phone to find different things on YouTube. - [Cameraman] What will she find on there? - She likes to watch YouTube. She'll watch some kids show. We do not know what they are. It's funny. You'll be seeing her sitting there and she'll be laughing and
smiling while she's watching. We'll turn the sound down
so we don't have to hear it, but she's looking and
laughing the whole time. - The gift that we've been given, though, is we've known almost since birth what the eventual outcome will be. And so I think because of that, we've cherished every single minute. And so where sometimes you
might get frustrated with the child when they're acting out or whatever, because we know that our time is short, we cherish every minute. - [Cameraman] When was
Sadie first diagnosed with Sanfilippo syndrome? - She was diagnosed at
three months old, which is, in the Sanfilippo community,
is very unheard of. They're usually not diagnosed
until like five or six and it's usually misdiagnosed
with like autism or ADHD. But her dad has a distant
cousin who also had Sanfilippo. We knew it was in his family
and I had no indication that it was in my family at all. But it is genetic, so both parents have to be carriers for the child to have Sanfilippo. She was not premature, she was term, but she was having breathing
issues, feeding issues, she had a brain hemorrhage
right after birth. - [Cameraman] The diagnosis being so early is abnormal in the Sanfilippo
community, correct? - Yes, yes.
- Yes. - And in some ways, we thought we were very fortunate being diagnosed that early. And I still think we were because we have cherished the
moments, the good moments, and it's helped us be more
patient in the bad moments. - You shouldn't have to go to a doctor and get this diagnosis and just be told, "Here's your diagnosis. Go home and love your child. That's it." Like, there should be more, there should be treatment options, there should be a cure. - While we're all here and
Sadie's being her awesome self, tell me about a way people can help. Where can they go and contribute to help find a cure for Sanfilippo syndrome? - So we have partnered with the
"Cure Sanfilippo Foundation" and they are an amazing organization. They help families when
they're first diagnosed. They helped us when we
first got diagnosed, just giving us all the information. They helped fund clinical trials, they help us spread awareness. So "Cure Sanfilippo Foundation" is who we've partnered with
and we love those guys. - And that's a way, I'll put it in the
description of this video, if everybody contributes $5, that'll go a long way to help... - Yes, oh yeah. - Fund clinical trials and
find a cure potentially. - Yes, yes. And that's our goal. - They've changed the game for Sanfilippo. They have helped fund
numerous clinical trials, they have helped clinicians
learn more about the disease. There's just so much more
awareness now than, you know, before Sadie was born
because of their work. Sadly, you know, it is up to families and
nonprofits to fund these clinical trials because they're rare
diseases and, you know, pharmaceutical companies just
aren't as willing to invest as they would be with more common diseases. So families and nonprofits investing de-risk these trials from starting. - Just because it's a rare disease, these kids still matter and
we have to fight for them. And there should never be
a trial that's canceled or divested because of money or
because of business decisions. It should always be the child,
the kids, and helping them. And we need to raise money
and to raise awareness so that we can fund more trials and help these kids 'cause
they are in a lot of pain later end stages and no parent
should have to witness that, no parent should have to bury their child. That's not how life works. It shouldn't be how life works. - She's just an amazing little kid. We love her to death. We want the best for her and
we try to give her the best and we try to do everything we can now because we don't know
what the future holds. And we don't know how
long she's gonna be here. So, we live day by day.
