Siblings with Childhood Alzheimer's (Roman and Stella)

- [Chris] If you had to introduce your family to somebody meeting you for the first time, what would you say? - This is Roman. Roman is almost six.

He is probably the sweetest little soul you will ever come in contact with, just the most gentle kid. I feel like we sit at the end of every night and literally just stare at him and talk about how much we love him (giggles) and how much of a little angel he is. And this is our little firecracker, Stella.

Stella is four. She is fierce, independent, so strong, but also has the sweetest, most snugly little side too. So we got pregnant with Roman and he was the first grandkid on both sides of the family, so he was obviously like very treasured and (giggles)- - Yeah.

- . . .

got a lot of attention. And he started having a little bit of like health concerns here and there around like six months of age. Are you sticking your tongue out?

What are you doing? You like sticking your tongue out? You're such a goofball.

It's a whole long story, but basically one test led to another test which led to genetic testing, which led to his diagnosis. We found out that we were pregnant with Stella a few days before we got Roman's diagnosis. It was just like the full range of emotions that week, like going from finding out you're pregnant and expanding your family and just like all the joy that comes along with that to a few days later, getting a terminal diagnosis for your son and then finding out on top of that that your next child had a 25% chance of inheriting the same disease.

- While Jill was pregnant, I was like, "It's 25% chance. There's no way that that this is gonna happen back to back for us. " - I think we also just thought like in that time, like God wouldn't do this to us a second time.

We tried to remain very hopeful throughout her pregnancy that she wouldn't have it. - Yeah, I mean they could have done some different tests while Jill was pregnant, but all of them had risks. - We ultimately decided that finding out wasn't gonna change our personal decision on whether or not we had her.

I feel like Stella was always meant to be with us, so we ultimately decided to wait and just have her tested at birth. - [Chris] Was she tested immediately after being born? - Yeah.

- She was tested immediately. Unfortunately, they messed the test up. They called us to tell us that she was not affected just to a few hours later calls us back and say that they made a mistake.

So then we had to get her retested that took a couple more months to get the full results back. But I mean, that was just an amazing two hours followed by like an yet another heart-wrenching thing. - [Chris] What is the diagnosis and how does it impact each of them?

- So they're diagnosed with ASMD, which stands for Acid Sphingomyelinase Deficiency. It is a rare genetic condition. So basically me and my husband unknowingly carried the same rare mutation, and when that happens, there's a 25% chance that your offspring will be diagnosed with it, a 50% chance that they would just be a carrier, and then a 25% chance that they would be totally unaffected.

It is a type of lysosomal storage disorder. So basically their bodies are lacking an enzyme that's needed to break down a certain type of lipid. So what happens is over time, that lipid starts accumulating in cells throughout the body, mainly affecting the liver, spleen, and lungs.

Are you okay? You're making a face. With the most severe form affecting their brains and basically causing like a neurological deterioration similar to like an Alzheimer's.

- The worst thing about it is, you know, you're only getting a glimpse of who they are as a person before little bits of things are getting taken away. So, you know, as their personality was developing, you know, from three months old to two-and-a-half or three, you know, obviously you get to know, see more and more of your son or daughter and then all of a sudden, this disease starts taking hold and everyday it just took a little bit more away from them. - [Mom] Hiss!

(Stella laughing) (Mom laughs) Hiss! (Stella laughing) Hiss! (laughs) Hiss!

(Stella and Mom laughs) I do feel so thankful that even if it was just a small amount of time, we got to know who they really are as a person and their personalities. But that's definitely been the hardest part is knowing who they are deep down but watching that just slowly go away. - [Lauren] Are you standing?

- Oh, look at you. - [Lauren] Oh my goodness, you're so big. Oh my goodness.

- He's literally, he's putting weight on it. He's, like, pulling himself off. - [Lauren] You're so big.

- Oh my goodness. The regression that happens is pretty, like, fast and furious. So between ages one-and-a-half to two-and-a-half, our kids basically lost all of their skills.

So they used to eat by mouth, they used to be mobile, they used to be verbal, and now they are non-verbal kiddos, they're G-tube fed, they both have wheelchairs, pretty much can't really move themselves. So it's just a neurological decline that's similar to Alzheimer's, which is why it's called Baby Alzheimer's or Childhood Alzheimer's. I mean, they were pretty typical developing babies up until one-and-a-half.

So Roman was just the smiliest boy. He laughed at everything. He loved like silly words.

(Dad mimics popping sound) (Roman giggles) And then Stella, she, like I said before, was just like super independent, little sassy, little bossy. I guess your typical girl. - She kind of found her voice a lot more than Roman did.

You know, she would literally be screaming Dada like from start to finish of the day, which I liked. Thinking back and sometimes we kind of have to remember like when was the last time we actually saw them smile, like, on purpose, not where a seizure forced a tic or a habit for them to create a smile, but for them to actually be joyful and happy and showing that. - Yeah, I feel like that's one of the cruelest aspects of this disease, is it kind of takes away their ability to smile.

Although, I feel like we've kind of come to, like, know what their happy faces are. (chuckles) So they might not be smiling, but we can definitely always tell when they're happy or enjoying something. - [Chris] So they still feel joy?

- They do, for sure. - Absolutely, yeah. - Yes.

- I mean, it's like knowing anybody. You know what they're feeling just by looking at them, you know? In some ways, it's no different than any other person that you're super close with that sometimes you can just know exactly how they're feeling when you walk in the room and you can sense them, and I feel like it's very much the same with both of them.

- Yeah, I feel like they say a lot with their eyes. - [Chris] Is this Stella's favorite chair here? - It is, yeah.

This is her comfy spot. We like to kick off the day watching a little movie and taking that nice morning nap. - [Chris] Does she have a favorite movie?

- You know, right now, she has been watching a lot of "Paw Patrol. " I still think she likes "Beauty and the Beast. " I think that's one of her favorites.

- [Chris] You said this is a terminal disease. What is the typical life expectancy? - So ASMD Type A, the life expectancy is about three years old.

- [Chris] How old are Roman and Stella? - Roman is almost six and Stella is four. So we work really hard to give them really, really good care and we've worked really hard to get them on a couple experimental treatments.

You know, maybe their lives won't be the longest. We don't know. I never like to say that 'cause you don't know what's gonna happen in the future, but we were gonna do everything in our power to make sure that they just felt love around them 24/7.

- My name is Chris, Roman and I came here because I wanted to be your friend. If I want to be Roman's friend, what should I do first? - First, you should just say hi to him.

- Hi, Roman. I'm happy to be here with you. - Say, "Hi, Chris.

" - It's great to be here with you. (Dad giggles) - He was always super into books and reading. My mom was an elementary school teacher for 30 years and she watched him when I was working and they would just sit and read books all day.

He was turning the pages at like five months old, three months old. (chuckles) Always just been very into books. - Well, Roman, this book is called "Good Night, Little Blue Truck.

" - This is a favorite for you, huh? - "Good Night, Little Blue Truck. " Let's see what all these cute little animals and the truck get into.

(pages flipping) "Bumpity-bump! Down the road came Little Blue Truck with good friend, Toad. " There's Toad in the little blue truck just cruising along.

- One thing he never gets tired of hearing is, "I love you. " That's something, when he was like a little tiny baby, he was mimicking, "I love you. " And I feel like that's something that has stuck with him.

I mean, he gets told it probably a gazillion times a day. - Yeah. - And it was actually maybe about a year ago where I was holding him and I was telling him I love him and he looked at me and he said, (mimics Roman) in, like, his little way, and I know that that's what he's saying.

So I feel like that's something that is like, has stuck in the recesses of his mind and he never gets tired of hearing it. - Yeah. - [Mom] Can you say, "I love you"?

- I love you. - [Mom] Did you say, "I love you"? I love you.

- Love. - [Mom] I love you. I love you.

- I love you. - Aww, thank you. (smooching) Just because they can't quite respond in a typical way, I do think that they hear everything that you're saying and they want to engage.

And I feel like when you're talking to them, they're really soaking it in. - Stella, it's so great to be here with you today. I'm so happy we get to spend time together.

I'm having a lot of fun with you. You're a really cool person. You're awesome.

- You can see her kind of like bring her gaze down, look at you, and then she kind of starts to move upward again, but she is really trying to like meet you at your level. Right? There you go.

- So she has to fight to control her eyes? - Yeah. - "The rain had stopped and way up high, the moon was a smile in a starry sky.

" There they all are, riding off after the big storm. - You see goose on top? - There's goose.

- Or duck. - Duck, pig, goat, cow, and frog, and chicken. The whole gang's there.

(Roman cooing) "Goodnight, Pig. Here's your pen. Goodnight, Duck.

Goodnight, Hen. (page flipping) Goodnight, Goat. You're home now.

Goodnight, Goose. Goodnight, Cow. " Are you aware of what their receptive skills are like?

Do they understand when you talk to them? - I think they definitely understand when we talk to them. - I definitely think they do.

I mean, it's, you can see it in their eyes. You can, you know, you could be reading Roman a book and he can- (Stella coughs) his interactions, you can tell. - "The horn went beep, engine purred, friendliest sounds you ever heard.

Blue and Toad drove home together, two good friends in any weather. Toad laid down on his own small bed. Croak, goodnight, Little Blue, he said.

" - [Mom] Are you trying to say something? - Will Stella and Roman kind of vocalize like that? Like, I noticed as I was reading to Roman, he would vocalize and say something in his own way.

- Yeah, he does more than her right now. It's weird 'cause she used to be very vocal when she was little and then I feel like they kind of flip-flopped. So once they got started on that other medication, we noticed him get a lot more vocal.

She kind of makes those little mouth movements that she just did, like she wants to say something. And every now and then, she'll, like, vocalize stuff but I would say Roman does it more. Yeah, I saw you moving your mouth like you wanted to say something.

- "Blue gave one small sleepy beep. Then Little Blue Truck fell fast asleep. The end.

" - Did you like that? - Thanks for reading the book with me. - [Mom] Yeah.

(Dad giggles) (Roman vocalizing) - I had a lot of fun hanging out with you and reading. - Yeah, it was very nice, thank you. - They both also love being around family.

We have, my family lives close by and Donald's family, so we spend a lot of time with family, and they love it. They love their Nana and Poppy, and Grandma and Grandpa, and their cousins. - [Chris] Hi, Nora, how are you today?

- Good. - [Chris] I heard that you and Stella are cousins. What is it like to be cousins with Stella?

- I like to play with her. - [Chris] How do you and Stella play together? - I like to draw with her.

- [Chris] Lauren, what was it like to teach Nora about her cousins and the disability that's affecting them in her terms? - Well, for Nora, it really, we really haven't had to, 'cause she's four and she's the same age as Stella, and so they've grown up together their whole lives. So we haven't really had.

. . Roman and Stella have always just been her cousins and been very like.

. . It's just her cousins.

So like, we haven't really had to teach her about any of their disabilities yet. She just accepts them for who they are. - [Chris] When you and Stella draw together, what type of things do you draw?

- Minnie Mouse. - [Chris] Tell me about Stella's relationship with her cousin, Nora. - So me and my sister were pregnant at the same time with Stella and Nora, so it was a fun experience being pregnant together.

They were born just a couple months apart and they've grown up together. So it's been really difficult on one end, but also really beautiful to watch the relationship that has formed, not just between Stella and Nora, but between Nora and Roman. - [Chris] What's the best thing about Roman?

- Reading books for him. - [Chris] Does Roman get happy when he is reading a book? - Mm-hmm.

- And it's just been like a beautiful thing to watch. The hard aspect of it is, was obviously watching our niece continue to reach milestones while we were watching Stella regress. There were definitely moments of like intense grief that came along with that.

- Yeah, I feel like when you asked that question, like, I was just re-imagining the day like when I found out, like, Nora was taking unassisted steps for the first time and. . .

Yeah, it just took me right back there. I mean, Stella never got to that point but- - It's hard. I think one thing that we've learned through this process is, like, there's always gonna be moments of grief like that, those are never gonna go away, but I think you learn to handle those emotions better and deal with it in a way where you're not dwelling in the grief.

Like, you can feel it, you can sit with it for a moment, it sucks, and then you can pack it away and move on with your day. - Especially in the very beginning, it was really challenging for, I think, all of us. You know, my sister and I are super, super close.

We always have been. And like for us, like our, you know, always our dream was to like raise our children together. So when, especially early on when Nora was doing, hitting like really big milestones like walking, I know that I remember the night that Nora started walking, I was so happy, but also like really sad to tell my sister and Donald that Nora started walking.

And so, that has been a struggle. But they have always, you know, accepted everything with so much grace and I know that they are always happy and proud and they get to kind of live those moments through Nora. So there's always like happiness and joy with it, but also some sadness as well.

- I hope that she can be included and just feel that friendship and that community with other people. - Does Stella have some favorite things she likes to talk about? - [Mom] What do you like to talk about Stella?

Huh? You're really into that "Paw Patrol Movie" right now? And do you love all your Disney movies?

- I like Disney. My favorite Disney movie is "Lion King. " - We actually, we went to Disney for her Make-A-Wish trip earlier this year and she got to go out on stage in the Lion King show, right?

- That sounds so much fun. - You did so good. I think you liked having all the attention on you.

Whatever time I have with my children, I don't want it to be tainted. Like, I want to be able to enjoy any moment that I have with them. And like I said, it's okay to feel that grief.

It's something we're gonna have to deal with for the rest of our lives, but I think my perspective changed once I was able to feel it and then like, kind of like, "Okay, I'm gonna pack it away. " And for me, therapy was something that really helped me deal with all of those emotions and figure out effective ways of dealing with it where I wasn't sitting in grief continuously because it's really easy to kind of get stuck in that spot. - [Chris] What are you most proud of Stella for?

- I am proud of her, honestly, just every single day. I am proud of her and Roman together and what they're doing for the next generation of kids to follow. I am proud of how she is at every doctor's appointment, at every hospital visit.

It is such a hard feeling that, you know, we're going to a hospital every two weeks, there for six hours, she's getting an IV placed, and she's just, they're both, honestly, they're fantastic during that time and I can only imagine how they feel. I mean, but I'm really proud of how she's always just doing, takes on every single day, honestly.