A Child with Dementia and her Loving Sister

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Belle is diagnosed with a form of childhood dementia known as Sanfilippo syndrome. As a result her life expectancy is in the teens and she is slowly losing cognitive and physical abilities. Belle’s sister, Arden, was confused why they could no longer play together on the playground. But now that she understands the reality of Sanfilippo syndrome, Arden just hopes Belle knows that she is “loved more than sugar pie”.

– [Interviewer] If you had one wish, what would it be? – That Belle didn’t have this disease, so yeah. – [Interviewer] Do you think about that often? – Mm-hm, like, I always wish on a shooting star if I see it, and I will beg, so yeah.

– [Interviewer] Have you seen any shooting stars lately? – Not really. – We don’t know how much time we have with Belle. We hope we have forever, but realistically we know that with her disease, the life expectancy is in the teens, and she’s already 8 1/2.

We just had her half birthday last week. So it’s kind of heavy when these birthdays roll around. They’re exciting ’cause we love a birthday party, but it’s a reminder that our time is limited. – [Interviewer] Tell me all about your sister, Belle. – Well, my sister, Belle, has a rare disease

Called Sanfilippo syndrome, and that means she can’t talk, and she’s gonna, like, she’s got trouble of walking, and she’s gonna lose how to swallow in a little bit, so yeah. And I love her so much because she’s just, like, a different person of like, like, anywhere she goes, she’s different,

And I love that, so yeah. – [Interviewer] What’s it like to have a sister who has Sanfilippo syndrome? – Well, it’s like every time when we watch a movie she might yell, but I don’t really care because I love when she yells. And it’s, like, the nicest thing to hear. – Yeah! (laughs) – [Interviewer] Do you love communicating with your sister? – Mm-hm. – [Interviewer] How do you feel when you do? – Yeah! So, I feel like every time when I do, it’s just really fun, and it’s like my sister knows that I’m there if she, like, she can’t really hear well, my dad and mom think, (Belle yelling) so I try to yell as loud as I can to make sure – [Interviewer] What is Sanfilippo syndrome? – Sanfilippo syndrome is a lysosomal storage disease. It’s often referred to as childhood dementia because it’s slowly taking away some of our child’s cognitive ability, and then, eventually, it does progress to the body as well with Belle’s type.

She has MPS-III-A, which is a form of Sanfilippo syndrome. – Yep, it causes all the cells in the body to eventually die off, and that’s what leads to the cognitive- – Decline. – And the physical declines in her body. – I have this thing called anticipatory grief,

Where sometimes I’ll get in my own head, and all I can think about is the future and what’s coming. And, you know, you kind of think worst case too, like, I picture how sick she’ll be, and so I try to not do that. I mean, I literally just have to shake it off

And say, “Okay, I’ve had a day where I’ve let myself be really sad and cry and upset, but now I need to get back to reality and take care of my girls and enjoy the moment.” I mean, it’s hard, but you have to remind yourself that, you know, you’ve gotta just keep living

And enjoying and making those memories. I mean, I’m crazy about pictures. I take pictures all the time of my girls. And I like to have them wear matching outfits, like they are today. I know Arden’s eventually gonna grow out of that and won’t let me dress her anymore, but for right now,

I love when they’re twins and wearing the same thing. – [Interviewer] I noticed that you and your sister have amazing matching dresses. – Yeah. – [Interviewer] Do you like matching with Belle? – Yes, my favorite thing to do is matching. Mm-hm. – [Interviewer] Why do you like it?

– Because, like, when I always wanna cut my hair like hers, and one time I did, and we were like matching twins, like, and people couldn’t tell the difference, but then when Belle yelled, then they could tell the difference. So I loved it when we were matching,

But my hair growed longer, so we’re kind of matching now. So that’s why I like it. – She went from speaking so many words to one word then to not being able to talk, and then at that point, when we tried to get her to say words,

You could see that she was trying to say it, but she just wasn’t able to. She was frustrated, and it was just the saddest thing to see. I just felt so bad for her. – [Interviewer] So she shows frustration about the regression? – Well, this was at that point, like around,

I’d say about four, when she completely stopped talking, but she just couldn’t talk. You could see that she was trying to, but she would just get frustrated. And then once she started regressing more and more, you know, then the frustration went away because she, you know, she didn’t, her brain was just deteriorating.

– [Interviewer] So she might not be processing the fact- – Right. – [Interviewer] That she’s regressing anymore. – Oh, right. She’s not processing that at all. – [Interviewer] In a kind of strange way, does that make it easier, that she’s not processing it anymore?

– It does. She doesn’t know what’s happening to her now. So it’s, you know, it’s like my father has Alzheimer’s, he’s aware of it. So when he, you know, comes in and out, I mean, it’s really sad to see yourself go, but she doesn’t have that. So in a way,

It’s kind of a little bit of a relief that she doesn’t have to go through that part of it. – [Interviewer] What is it like to be the grandmother of Belle and Arden? – It’s great. Sometimes it’s, I get very sad. (Belle yelling) It’s that I know what’s going to happen to Belle. And I just get very sad when I think about it. And I think it’s very unfair, but I get very emotional thinking about it, but Sorry. – [Interviewer] I know that your husband is diagnosed with Alzheimer’s. And I know that they call Sanfilippo syndrome childhood dementia. – Yes. – [Interviewer] Can you tell me about the similarities and differences between Alzheimer’s and Sanfilippo syndrome? – I’ll do my best. With Alzheimer’s, at least he’s lived his life.

He’s enjoyed his life. He’s had a family. He’s had a business. – Loved. – He’s had grandchildren, marriage. He’s enjoyed his life. He’s had a good life. Sanfilippo, it just, like, I was shocked when she was diagnosed. Like, what? What is this? (Belle yelling) Belle’s not going to have the opportunity-

– To date anyone. – To date anybody, to experience (Belle yelling) what people with Alzheimer’s have experienced. – [Interviewer] Do you like holding hands with your sister? – Yes, it makes like, I think that when I hold hands with her, she knows that, like, I’m there, I’m with her,

I love her and stuff, so yeah. – [Interviewer] What are some other things that you do to show your sister that you love her a lot? – Other things I do to show my sister I love her, like, when it’s Christmas coming up, I always make her the best present in the world.

Like, I give her, like, a dress, headbands, and I make sure that she loves it and, like, Squishmallows and like all of those things. – [Interviewer] How does she react when she opens your awesome presents? – She yells as loud as she can. Then she starts playing with them.

– I had never heard of Sanfilippo syndrome. I, in my worst fears, I couldn’t have dreamed that my child would be affected with this type of disease. Neither one of us knew how to react. I remember for probably three or four days after she was diagnosed, I couldn’t get out of bed,

I couldn’t leave the house, I just cried constantly. And every time I would wake up after I’d fallen asleep, I would think it was a dream. You know, like a horrible nightmare. It’s just something you can’t prepare for. And then eventually, after a few days,

I had to realize, like, she’s here right now. So rather than laying in bed, crying, which, you know, is easy to do, I had to get up and spend time with her because I wanted to enjoy and have all these memories with her. – [Interviewer] What’s the best thing about having a sister?

– The best thing having a sister is that I don’t need to do stuff by myself and it’s fun to do stuff, so yeah. – [Interviewer] What is it like for you to see the bond between Belle and Arden? – It was fun ’cause at the beginning

When she was doing well, you know, like three, and nothing was really affecting her, they would do the normal sister things. You know, like, oh, give me that. Oh, Belle. You know, they would do that together. But now that Belle’s regressed so much,

Her sister is, you know, she really looks out for her. And she’s become, I’d say, she was caring before, but she’s more caring now for her sister. She understands that Belle can’t do things on her own. Belle needs help, assistance for everything. And she’s always, you know, she’s always there for her sister.

– [Interviewer] Do you ever have any disagreements with your sister? – Sometimes. Like, only three times. Like, one time we were having a present for my mom’s birthday. I wanted to give her, like, a matching headband and my sister, I said, “Which hand? Do you want a headband

Or do you want matching something makeup?” And then my sister pointed to makeup. So I’m like, but I like that. So I taught her again and I a bit patient and she chose makeup again. So we did makeup for her. – [Interviewer] I think that it’s really great

That you give your sister choices so she can communicate what she wants. – Yeah. – [Interviewer] How did you learn to do that? – Well, I learned it when I was like, when I knew that she had the Sanfilippo syndrome. Because then, like, anytime if she couldn’t answer me

And we have, like, something to do, I’ll, like, make sure I have, like, something in my hands and I’ll say, “Do you want this or do you like this?” So yeah. – Before, you know, when Belle was two, three years old, they were just best friends and they still are,

But they could communicate, they could play together, they would dance together all the time. – All the time. – All the time, dancing. Oh yeah. “Hand Clap”. They love that song. – I feel like we’re so lucky that we have Arden to take care of Belle and to help us with Belle.

And it’s made Arden such a compassionate little girl. – I love being with her. – [Interviewer] Why? – Because if I be with her- Because if I be with her, like, I can’t really, like, take my eyes off of her beautiful hair, eyes, and stuff, so yeah. And when I be with my sister, I love doing everything with her. And I love, like, helping her with other things and stuff, so yeah.

– [Interviewer] Did your sister always make those fun, loud sounds or is that something that happened as she grew up? – Well, she never, like, make them when she was a baby and stuff, but when she grew up, she kept on getting louder and louder and then we know what it means.

If she’s high, she’s happy. If she’s low, that’s sad. So yeah, – Arden comes to the doctor with us sometimes if it’s in the summer or if she’s not in school, and she’s seen or heard things and then that’s what’s kind of triggered her asking questions.

And she’s still naive about a lot of it and optimistic about, you know, that her sister, no one wants to think that your sister’s gonna pass away in a few years. And I would rather Arden have hope. I wanna have hope. I want my whole family to have hope.

I want everyone to have hope that a miracle happens. So we just keep hoping. – [Interviewer] Is there something that was hard for you to understand about Sanfilippo syndrome? – Well, there was something hard that I didn’t understand when I was, like, a baby. My mom used to think that my sister

Will not die in a little, but then she, well, then the doctor said she might die even earlier, so I was kind of, like, confused that time, so yeah. – [Interviewer] Did your parents help you understand that? – Mm-hm, so now I know all about Sanfilippo syndrome and I can help Belle more.

– [Interviewer] What have you learned that is useful? – Well, I learned, like, how to be patient, a lot of things like that. And I learned how to be kind, nice. And if she gets, like, hurt, I know what to do. She has, like, this little basket that we take everywhere with her

To have, like, all of her shoes and stuff. And it’s really nice. I brought it for school one time and I taught everyone about my sister, so yeah. – They loved playing on the playground and Belle slowly became unable to climb up the ladder.

– And then almost scared to go down the slide. – Arden started, you know, that’s when she really started asking questions about it. – Like why sissy didn’t wanna go on the playground anymore. We truthfully didn’t tell Arden for a very long time

Because she was so young and I just wanted her to be a kid and enjoy life and not have the stress or the weight of knowing that her sister has this horrible, rare disease that’s taking her abilities away. We kind of went back and forth about when to tell her

And gradually, Arden just started to ask a few questions. I still don’t know, Arden, (Bell yelling) do you fully understand what’s happening to Sissy? – Mm-hm, mm-hm, mm-hm. – Okay, ’cause we don’t sugarcoat it, but we try to be positive, I think. – Right. – So we are not gonna focus

On everything Belle’s losing, we’re gonna focus on what she still has and the fact that she’s still here. Because every day with her – And appreciate the moments more. – Yeah, that is the only benefit of this disease is that I think we don’t take a birthday for granted.

We don’t take a holiday for granted. – Yeah, we do half birthdays. – We celebrate half birthdays. You know, any reason to celebrate. I’m always anticipating, like, her passing or just losing skills or just everything that can go wrong now, you know? And before, I was not like that.

Like, I know a lot of my mom friends would say, “Oh, I’m so worried that my child’s gonna get sick or that my child could be in a car accident if she’s with someone or”. I never really thought like that, which I guess I was lucky that I didn’t.

You know, I always just thought the best, like, thought we were gonna have this great life and that, you know, Belle was going to go to an Ivy League school and marry her dream, you know, husband or, you know, partner, or whoever she wants to be with. Like, I just always thought positive.

– [Interviewer] Does your sister go to school? – Well, she used to, but then she didn’t go to school when her disease got even badder, so yeah. – [Interviewer] Thank you for sharing that. – You’re welcome. – So we didn’t know it, but we’re both carriers of this disease.

So because we both carry it, we had a one in four chance of having a child that has this disease. So we didn’t have any idea until after Belle was born, even about Sanfilippo syndrome. – [Interviewer] So Arden is older, you had her and she was healthy, so you still had no clue.

– Right, no clue. – And we had had genetic testing, but just not – To get pregnant with Arden. One of the first things I noticed as her mom was she would forget things. Like, I would be looking at her or we would be talking about something

Or, you know, reading her books and she would forget. And I remember telling the doctors that. So I think that was a sign, but Jamie and some, you know, they were like, “No, she didn’t forget. Like, she’s a little girl. She’s learning.” – [Interviewer] Can you tell me about the moment

Of the initial diagnosis when you first learned about Sanfilippo syndrome? – We were driving to St. Pete for a doctor’s appointment and then the geneticist’s office called us. And, you know, it was just a regular day. And then they said, they told us it was Sanfilippo syndrome

And they, you know, said we’re very sorry that, you know, we had to give you this diagnosis. – I mean, I think right off the bat when we were diagnosed, all my focus was on was that the doctors were wrong. We needed another test. We’ll find another geneticist. We’ll try another doctor’s office.

I mean, ’cause I wanted them to be wrong. – It was devastating at that point. And then, of course, you’re always thinking you can find a cure, we can find something. There’s all these trials out there, we can hopefully get into one and everything will just get back to normal.

– [Interviewer] So was there an initial diagnosis and then a moment of you accepting the initial diagnosis? – I still think sometimes I haven’t fully accepted it. Because I’ll look at Belle and I’ll be like, they’re wrong. She doesn’t have this. She’s not as sick. She’s still walking, she’s still eating,

She’s still, you know, but then when you take a step back and look, I can clearly see my daughter does have this disease. And they were right. The doctors were right. – [Interviewer] I know that children with Sanfilippo syndrome often have the same physical traits. – Mm-hm. – [Interviewer] Can you describe them?

(Belle yelling) – Sure. She has very coarse hair. So, Belle’s actually never had a haircut. I mean, we’ve trimmed it, but it just doesn’t seem to grow much. Other children with her disease, their hair does grow a lot, but it’s always the coarse texture. She also has kind of thicker eyebrows.

My husband is Greek, so I thought it was just that, but it’s probably the Sanfilippo. So she’s got some thicker eyebrows. What else? Anything else? Oh, she has shark teeth. That’s kind of interesting, so. – [Interviewer] Shark teeth? – So she has two rows of teeth. – From chewing constantly,

Her baby teeth are still very strong and they haven’t come out yet. – They don’t wanna come out. So she’s literally got two rows of bottom teeth. – [Interviewer] What was it like for you when she was first diagnosed and you saw your family’s reaction?

– Well, I got kind of scared when they were telling me, and, like, when she got diagnosed and stuff. And my Yaya was there still, so I hold her hand a lot. And then I saw my mom crying. So then I was like, what’s happening? So yeah. – [Interviewer] Did you try to guide her through that moment? – Yes, my way. I was very honest with Arden. She had a lot of questions. – This is normal now. So, like, we have our routine.

So we feel that that’s, like, what makes it a lot easier is having our routine. In the morning, we wake up, I take Belle downstairs ’cause she can’t walk down the stairs or anything and then, you know, she watches her show, we feed her.

And then, you know, later on, my in-laws come over or my mother does to take care of her. But it’s consistent routine and it kind of keeps the sanity, you know? – [Interviewer] This first question is for you, Arden. Tell me all about your grandparents. – Well, this is my Papa. He’s nice, kind, and smart. And I love him so much. This is my Mimi. I love sewing with her and a lot of things. And she helps me cook stuff.

Like last night we cooked cookies and other things like that, so it’s fun. (Belle yelling) And yeah. It makes me feel really, really happy that Belle’s, like, all loved by my friends, family. – [Interviewer] What’s your favorite way to connect with Belle? – I guess, like I said before, on the golf cart.

You know, she never gets restless. You know, she just, she’ll sit there so calm and ride, ride, ride. – Looks. Looks at everything. – [Interviewer] Do you ever wonder what she’s thinking? – Often. Often. And no way of telling. You know, I wish I could look in her eyes

And say, “Oh, you’re thirsty now.” Or little things like that. You know, “Oh, you want something to eat?” Nothing. I just guess at every little thing, you know? And just trying to make her comfortable the best we can try to make her I love to give her kisses. She doesn’t really kiss back.

Although sometimes she has her little way of doing it, you know? She’s funny. But she’s not one of those kids that goes up and hugs everybody and, you know, we miss that about her. She had that at one time, you know? – [Interviewer] What is your favorite memory with your sister?

– My favorite memory with her when we used to do dance together and she used to always tap dance and stuff. And when I was always at her concert, I used to scream as loud as I can. So yeah, it was really fun. – At the beginning, you know, the first three years

When we didn’t know anything and we were just, she was just, you know, she does now, but she’d light up the room, she’d be able to talk, she could, you know, be with us and run around and play. And it was just, it was a great time.

But you take, you know, that time, maybe there’s some things I did take for granted, thinking that, you know, we’re gonna have, you know, she’s gonna get older and everything’s just gonna be a normal progression of life. And, you know, maybe I should’ve,

You know, paid attention a little more, done a little bit. You know, you always think about the stuff that, you know, oh, that one time I didn’t hug you right away when I walked through the door or something like that. It always hangs with you now

Because, you know, I’ll never get that back. And then it’s always, it’s gonna be, it’s just much different now. And, you know, the communication’s not there, but, you know, she’s still my little girl and I love her to death. – [Interviewer] What did you think when you first learned about Sanfilippo syndrome?

– I just, I guess I just felt, after you learn everything about it, just hopeless. You know, it’s just when they say there’s no cure yet. Hopefully, they’ll get one one day. But as of right now, you know, you just, you resign yourself to the fact that she’s not gonna get any better.

So just try and make her life here now as good as you can. – I think the toughest thing for me is knowing that I’m her mom and I just wanna protect her and take care of her and I can’t find a cure.

I mean, we could raise all the money in the world and find the smartest doctor in the world, but it still wouldn’t guarantee a cure for her. I mean, we have to go through testing and trials and everything just takes a long time. The process, the red tape.

And we just need something now. – [Interviewer] What is the life expectancy for a child with Sanfilippo syndrome? – Well, with III-A, it’s about mid-teens. And it’s usually, from what I’ve seen, it’s like they, with how the feeding tubes start happening and because they can’t feed themselves and then asphyxiation thing, certain ways

That these kids pass away is just, it’s terrible. But yeah, it’s just. Yeah, I can’t even think about that happening right now. But yeah, we’ve been trying very hard not to get to a feeding tube yet. We’ve been giving her her milkshakes and her protein shakes, all that.

You know, she has to eat very small bites ’cause she will choke and she does silently aspirate a little bit. – [Interviewer] How does your sister show you that she loves you? – Well, she might, like, hit me and stuff, but that means, like, maybe she wants to play and stuff

And I think that maybe means that she loves me and she just wanna do stuff with me, so yeah. – [Interviewer] What’s it like to have a sister who expresses her love by hitting you? – Well, it’s kind of fun and it’s, like, nice. Well, it might hurt, but maybe if it hurts,

I could just play and do stuff with her even more, so yeah. – [Interviewer] When somebody hears about Sanfilippo syndrome, I think their first reaction is what can we do to help? – Mm-hm. – [Interviewer] What can people do if they wanna supply a helping hand your family

And other people impacted by Sanfilippo syndrome? – We’ve partnered with the Cure Sanfilippo Foundation. – With the Cure Sanfilippo. – And their main goal is to raise money for clinical trials. There currently is no cure or treatment, no viable treatment option at all for this disease. So it’s been around for a while,

But because it’s such a rare disease, pharmaceutical companies don’t, you know, I mean, there’s other – There’s not much money in it, you know. – Right. So unfortunately, it’s not something that’s on the top of everyone’s priority list. – So we try to help fund the research and everything

Into finding a solution for this. – And the clinical trials take a long time and they’re very costly. But that is the only way to eventually come to a way to help combat this disease is these clinical trials. – [Interviewer] I’m going to include the link to Cure Sanfilippo Foundation so people

Can click on there and contribute to – Okay. We appreciate that very much. – [Interviewer] Oh, of course. I think it’s the least I could do. – Hi, sissy. – [Interviewer] I think anybody who watches this would wanna contribute to help end Sanfilippo syndrome. – Mm-hm.

Yeah, because she’s literally just missing an enzyme. So, I mean, there’s gotta be, in my head, I’m not a scientist, but I’m like, there’s gotta be a way to just get her the enzyme she’s lacking. – [Interviewer] What is your biggest hope for Belle right now? – A cure.

I mean, it’s really simple. We just need a cure to save her. But if we don’t have a cure or if one doesn’t come in time for her, I just want her to have a happy life. I want her to have memories, even if she forgets them. They’re memories that we also have.

And, you know, just, I want her to have time with her sister and her grandparents. All I want is a cure for any child with this disease. Like, no child should suffer and not experience the joys of childhood. I mean, any rare disease needs advocacy and it needs people to care about it.

That’s the only way we’ll ever get a cure or treatment. And if it’s not in time for my daughter, it’s okay. It’s gonna help other children. And I don’t think any parent should go through this. So anything I can do to advocate or help research

And development and clinical trials and a cure, I’ll do. And even after Belle’s not here, you’ll see me, you know, advocating until I die for rare diseases. – [Interviewer] What’s the most important thing you want your sister to know? – That I love her more than sugar pie, so yeah.

– [Interviewer] And sugar pie’s pretty good. – Mm-hm. It’s really good, so yeah.