What is Down syndrome?

SUBJECT 1: You're listening to Brains On--

SUBJECT 2: Where we're serious about being curious.

SUBJECT 3: Brains On is supported in part by a grant from the National Science Foundation.

MOLLY BLOOM: Meet Peter, Max, and Noah.

PETER: Well, we're buddies.

MOLLY BLOOM: These pals are all about the same age. They go to the same school in New Haven, Vermont. They like a lot of the same things, like reading, playing ball, and of course--

MAX: He likes pizza, and I like pizza.

MOLLY BLOOM: Noah, do you like pizza?

NOAH: Oh, yeah, pizza.

MOLLY BLOOM: Agreed, pizza is life. Max says they have their differences too.

MAX: Noah likes asparagus, and I do not.

MOLLY BLOOM: Do you like asparagus?

NOAH: We hate asparagus.

MOLLY BLOOM: Really?

MAX: Another difference is that I do not like chicken, and Noah does.

MOLLY BLOOM: So they probably shouldn't order an asparagus chicken pizza, but that's not really going to get in the way of their friendship.

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If we were exactly the same as our friends, that would be kind of boring. Differences offer surprises, and let us learn about things we might never even know existed or didn't think were that cool in the first place. Some differences come from the place you grew up in, like the language you speak, or your favorite baseball team. Go twins.

Other differences, like your hair or eye color, are biological. They come from your body, your cells and your chromosomes. Chromosomes are part of your cells, and they hold the blueprints, the DNA that makes you you.

One difference between Peter, Noah, and Max is that Max, like most people, has 46 chromosomes in his cells. Peter and Noah's cells have 47.

PETER: I have an extra chromosome.

MOLLY BLOOM: That extra chromosome means that Peter and Noah have Down syndrome. For Peter, it's just another thing that makes him him.

PETER: Yeah, and I like Down syndrome, and I think it's cool. For Max, meeting someone with Down syndrome made him curious.

MAX: When Noah came into the school, that just made me want to know the answer to this question, what causes Down syndrome? And so I sent the question into Brains On.

MOLLY BLOOM: We'll be answering that today. Keep listening.

[MUSIC PLAYING]

This is Brains On for American Public Media. I'm Molly Bloom. Here to help me answer Max's question about Down syndrome is 12-year-old Ezra and 10-year-old Fiona from St Paul, Minnesota. Hello.

FIONA: Hello.

EZRA: Hi.

MOLLY BLOOM: So you guys are siblings?

EZRA: Yeah.

FIONA: Yes, we're siblings, just not [? brothers. ?]

MOLLY BLOOM: Do you always get along?

EZRA: No.

FIONA: Yeah.

EZRA: No.

FIONA: Yeah. Yeah. Yeah.

EZRA: No.

FIONA: Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah.

MOLLY BLOOM: So Fiona says you always get along.

EZRA: That's not true.

MOLLY BLOOM: Ezra begs to differ.

FIONA: He's weird brother.

MOLLY BLOOM: So you both like to do sports?

BOTH: Yeah.

MOLLY BLOOM: What is your favorite sport, Ezra?

EZRA: Baseball.

MOLLY BLOOM: What is your favorite sport, Fiona?

FIONA: Swimming, bucking, running, and horses.

MOLLY BLOOM: And horses. And Fiona, this question for you. Is Ezra a good brother?

FIONA: Yeah. My brother love play baseball, so cool and handsome, and that's like me.

MOLLY BLOOM: Awesome. And Ezra, do you think Fiona is a good sister?

EZRA: Yeah, she's really creative and fun.

MOLLY BLOOM: Well, let's get to Max's question.

EZRA: What causes Down syndrome?

FIONA: People with Down syndrome are all unique.

EZRA: But sometimes, they have similar traits due to an extra chromosome.

MOLLY BLOOM: For instance, they may have similar shaped eyes, or they might have a larger space between their first or second toes. It's also common for people with Down syndrome, or DS, have heart issues and challenges with memory and learning. This can sometimes slow their development.

EZRA: But having Down syndrome doesn't define who a person is.

FIONA: I still am Fiona. I love running, screaming, biking, and riding horses.

EZRA: She just happened to have Down syndrome, just like I happen to have brown hair.

MOLLY BLOOM: Down syndrome is named after John Langdon Down, a British doctor who first described the condition way back in 1866. It wasn't until almost 100 years later, in the late 1950s, that scientists figured out it was caused by an extra chromosome.

EZRA: That word's come up a lot so far, chromosome.

FIONA: What is chromosome?

MOLLY BLOOM: Here to fill us in is producer Mark Sanchez.

MARK SANCHEZ: Let's take out our handy dandy zoom right here and zoom right in--

- Zoom, zoom, zoom, zoom.

MARK SANCHEZ: way in--

- Zoom, zoom, zoom, zoom, zoom, zoom--

MARK SANCHEZ: --to our cells. Cells are those little units that make up our bodies, and our bodies are made up of a practically unimaginable number of them, many, many trillions of cells. In fact, there are more cells in just your body than there are people on Earth. There are a lot of cells.

Now, let's take one of those cells and zoom in again--

- Zoom, zoom, zoom, zoom, zoom, zoom, zoom.

MARK SANCHEZ: In the middle of that cell is a nucleus. Now, zoom in again--

- Zoom, zoom.

MARK SANCHEZ: Inside that nucleus are chromosomes, 46 to be exact-- 23 from the mother and a matching 23 from the father.

Now, let's zoom in one more time--

- Zoom--

MARK SANCHEZ: --on a single chromosome. Each chromosome is made up of one DNA molecule-- DNA, deoxyribonucleic acid-- and a bunch of proteins, called histones.

Now, DNA is the blueprint for everything in your body. It tells the cells in your body what to become and what to do. DNA molecules themselves are really cool looking.

Each DNA molecule is shaped like a long, skinny double helix. Picture a ladder that twists from one end to the other. So instead of going straight up, it kind of spirals from top to bottom.

DNA strands are so long and skinny, they wouldn't fit inside the cell without being part of a chromosome. In a chromosome, these DNA molecules wrap around the proteins like a thread wraps around a spool. It's a neat space saving trick.

Scientists are hard at work trying to figure out what all the different sections of DNA do. These sections are called genes. Right now, for example, we know that two of the genes that affect eye color are located on chromosome 15. The gene that controls if you're lactose intolerant is on chromosome 2.

Scientists still have a lot left to learn about chromosomes and DNA and genes. So for now, I think it's time to zoom back out to Fiona, Ezra, and Molly in the studio.

MOLLY BLOOM: So we know that people with Down syndrome have an extra copy of the 21st chromosome, which is why it's sometimes called trisomy 21.

EZRA: Try for 3, like a three-wheeled tricycle.

FIONA: Or tricerotops.

MOLLY BLOOM: But how does an extra chromosome lead to Down syndrome?

EZRA: To find out, we talked to Dr. Brian Skotko.

MOLLY BLOOM: One of his sisters has Down syndrome, and that inspired him to work in a field where he could help people like her.

EZRA: Now, he's a doctor and the co-director of the Down syndrome program at Massachusetts General Hospital. Is there an easy way to explain Down syndrome to my friends?

BRIAN SKOTKO: I heard from one sibling who has a brother or sister with Down syndrome that she explained down syndrome like baking a cake. If you look at the recipe for most cakes, it involves two eggs. Yes, you throw the milk in there. You throw the batter in there, and you mix it together. And you have a great cake.

But let's say, we threw an extra egg in the recipe. It would still turn out to be a cake. Yes, maybe a little fluffier, but it would still be a cake.

People with Down syndrome have an extra ingredient. They have an extra chromosome. They have that extra egg.

And that turns out to be wonderful humans, wonderful brothers and sisters, wonderful sons and daughters. But they also have an extra ingredient that makes the composition of who they are sometimes a little bit different.

EZRA: So my sister, she doesn't see herself different than anybody else. Do people with Down syndrome really realize that they have Down syndrome?

BRIAN SKOTKO: Many people with Down syndrome understand what the condition is, and some people don't necessarily fully grasp it. It really depends on the age of the person and also their development. But what's important is that everyone with Down syndrome realize that they're important, that they're special, and that they value to their families and to their communities.

EZRA: How does having an extra chromosome lead to Down syndrome?

BRIAN SKOTKO: By having an extra copy of chromosome 21, the body has extra genetic material, and that's what causes Down syndrome. Some people might say, well, is an extra chromosomes good? Having extra genes, that must be a good idea. And actually, there are many advantages to having an extra copy of chromosome 21.

People with Down syndrome almost rarely get breast cancer, almost rarely get solid tumors. So having those extra genes from extra chromosome 21 helps fight cancers. But we also know having those extra genes, sometimes can confuse different parts of the body and can lead to health challenges.

Chromosomes are really the blueprints for our body. And when you have an extra set of instructions, that could either work to your advantage, or it could confuse some of the cellular biology. And that really depends on every organ, which chromosomes they tap, which blueprints they rely on, and how often they rely on those throughout one's life.

MOLLY BLOOM: So why is it that different people who have Down syndrome might have totally different medical conditions that occur with it? Some people have heart conditions. Some people don't. Why is it so different?

BRIAN SKOTKO: We know that everyone with Down syndrome has an extra chromosomal material from chromosome 21, but people with Down syndrome are so varied not only in their personalities, but in the medical conditions that they get, or they don't get. Why is that? It eludes scientists right now, so researchers and scientists are trying to unravel what causes certain conditions in some people but not others. So stay tuned for good research coming down the pike.

MOLLY BLOOM: So Ezra, did anything stand out to you from talking to Dr. Skotko?

EZRA: Yeah, like a simple way to describe Down syndrome. It's like a cake. Like you usually use two eggs. But sometimes, you can use three. Like it's still going to be a cake, but it might just be a little fluffier.

MOLLY BLOOM: Yeah, that's a really good way to describe it. So now, we have a picture of what Down syndrome is and how it works. But Max had another question too.

MAX: Is there any way to fix someone who already has-- who already has it?

MOLLY BLOOM: To answer that, we spoke with Linda Smarto from the National Association for Down Syndrome.

LINDA SMARTO: Can you fix a chromosomal abnormality? The answer is no. They're working on that to maybe try to discover ways to fix this when the baby is in utero, meaning within the womb. But as of now, there is no way.

And from a parent's perspective, since my daughter has Down syndrome, if you were to ask me 23 years later, as my daughter is 23 years old, if I would want to change anything about my daughter, the answer would be no. I would like to look at it more as assisting an individual with Down syndrome.

So let's think about what are the best ways in which we can assist somebody with Down syndrome. Providing them with a lot of support, with a lot of friendship, helping an individual with Down syndrome, and letting them soar to their full potential, not to put any limitations on anybody, especially those who have that extra chromosome.

[MUSIC PLAYING]

MOLLY BLOOM: OK, before we go any further, we need to do something very important. We need to hear the mystery sound.

- Mystery sound.

MAX: Yes.

MOLLY BLOOM: OK, so here it is, guys. Ready?

MAX: Yeah.

EZRA: Sounds like a pig eating.

MOLLY BLOOM: A pig eating? That's a good guess. Fiona, what is your guess?

FIONA: Cow eat a hay.

MOLLY BLOOM: Cow eating hay? Those are both really good guesses. We will be back with the answer in just a little bit.

[MUSIC PLAYING]

MOLLY BLOOM: You listen to Brains On, so that means you have something really valuable to us. Your thoughts about the show? We're working with the National Science Foundation to make Brains On even better, and we'd love to hear from you.

How do you listen? Why do you listen? What are you taking away from the show? We want to know you can really help us out by answering a short survey online or by signing up to be part of family interviews, and you'll get a cool "thank you" surprise for helping us out.

Just go to brainson.org/supernova. That's brainson.org/super N-O-V-A. Thanks and high fives for the help. Questions--

EZRA: Drawings--

FIONA: And high fives--

MOLLY BLOOM: --are what fuels our show. We love and appreciate everything you send in. If you want to get in touch, Email us at hello@brainson.org. That's what Lilo did when she sent us this question.

FIONA: One morning when my mom was making me breakfast, I was wondering why the eggs were turning from clear to white when they were cooked.

MOLLY BLOOM: Stick around to find out the answer and hear the latest additions to the Brains Honor Roll, all at the end of the show.

[MUSIC PLAYING]

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MOLLY BLOOM: Today on Brains On, we're talking about Down syndrome. I'm in the studio with siblings Ezra and Fiona. Hi, guys.

EZRA: Hi.

FIONA: Hi.

MOLLY BLOOM: One thing we typically see in people with Down syndrome is something called muscle hypotonia. It means having low muscle tone. This can make it harder for some people with Down syndrome to control their muscles and do complicated movements quickly. It can even affect mouth muscles, making it harder to speak, which is why some people go to speech therapy. Fiona, you go to therapy, right?

FIONA: Yeah.

MOLLY BLOOM: What is your therapist's name?

FIONA: It's Sarah.

SARAH BOWMAN: My name is Sarah, Sarah Bowman, and I'm a speech pathologist. Can you tell me cheeseburger?

FIONA: Cheeseburger.

SARAH BOWMAN: We are targeting some specific speech sounds, such as "duh," "cha," and "shh." All right.

FIONA: "Chh."

SARAH BOWMAN: Yeah.

FIONA: "Huhh," "ch," and "shh."

SARAH BOWMAN: "Huhh," "ch," "shh." And consonant blends, s blends, like in the word snake or spot or star, to help her overall speech clarity. So she helps you?

FIONA: Yeah. Polar bears are not scared, polar bears, polar bears. So going totally--

MOLLY BLOOM: Polar bears?

FIONA: Yeah.

SARAH BOWMAN: Oh, can you say "polar"?

FIONA: Polar bear.

SARAH BOWMAN: Have you ever seen-- When we're working on a specific sound, first, we'll work on producing that sound in isolation and then the word level in phrases and then in conversation.

FIONA: [INAUDIBLE] my nose.

SARAH BOWMAN: Your nose?

FIONA: Yeah.

SARAH BOWMAN: Have you ever seen a bat before?

FIONA: Yes, on YouTube.

SARAH BOWMAN: On YouTube?

MOLLY BLOOM: Now that we've talked about talking, let's switch to listening. Here's that mystery sound again. Final guesses?

EZRA: Same thing.

MOLLY BLOOM: Same guess?

FIONA: Same thing.

MOLLY BLOOM: Sticking with a cow eating, and you're sticking with a pig? OK, so we have a farm theme. So here is the answer.

MAX: Does it sound-- [INAUDIBLE] horses eating. They're eating a grain to make them feel healthy.

MOLLY BLOOM: So you guys were really close. You both guessed farm animals eating, and it was a mini horse eating.

FIONA: A horse?

MOLLY BLOOM: Yeah.

FIONA: A horsey? [INAUDIBLE].

MOLLY BLOOM: So Fiona, I'm guessing you've seen a horse eat before.

FIONA: Oh yeah.

MOLLY BLOOM: Because you ride horses, right?

FIONA: Yeah, my horse named Casey.

MOLLY BLOOM: Your horse is named Casey?

FIONA: Yes. It's a boy. Casey is a good awesome horse.

MOLLY BLOOM: What do you do when you ride the horse? Do you go fast? Do you go slow?

FIONA: So fast.

MOLLY BLOOM: You go really fast?

FIONA: Yeah.

MOLLY BLOOM: So that horse from the mystery sound lives in Texas, near Austin, at a farm called the Down Home Ranch. It's a place where lots of people with Down syndrome live and work with animals. Our producer, Sanden Totten, joined them for their morning chores.

COLLIER: My name is Collier. I take care of farm animals.

[MUSIC PLAYING]

TRAVIS: I'm Travis [? Hasek, ?] and I live Down-- Down Home Ranch.

COLLIER: So what's the first chore?

TRAVIS: We go inside, and we scoop their poo. And after that, we lay out hay. Dear god. Well, the ranch is-- it's [? working ?] until Monday. It's a place to live. My grandfather was raised on a ranch too. Well, my favorite thing is to ride horses, but the least thing is how heavy the hay is. That's my least favorite.

COLLIER: What's next? What chore's next?

TRAVIS: Cattle.

[ANIMAL SOUNDS]

NAOMI: I'm Naomi, and I work with the ranchers here helping take care of the animals. They're spreading out the cow cubes for the cows to eat on the grass. The ranchers that we have, they're not interested in the city life. They love being out in the country. They like the freedom. They like the starry nights, you know, campfires, and they like animals and--

[ANIMAL NOISES]

So cute. There's a lot of people that might not want to interact with others. But you get them with an animal, and they'll interact with the animal or talk to them. They really open up.

[ANIMAL NOISES]

TRAVIS: Hold on there baby. Come on down. Next up, it's "ch-" ickens.

OK, let's do it. Oh, oh, good. I've been practicing my chicken call. You guys want to hear it?

[CHICKEN IMITATION]

And the rooster goes

[ROOSTER IMITATION]

COLLIER: That was pretty good.

TRAVIS: It takes patience with the animals to stay calm and give them space if they're wild. If you're going to be a rancher, it's-- it's passion. It's love. It's a part of your blood.

MOLLY BLOOM: Fiona, do you think you'd want to live on a ranch one day?

FIONA: Yeah.

MOLLY BLOOM: What do you want to do when you grow up?

FIONA: I'll be hair stylist.

MOLLY BLOOM: Ooh, a hair stylist.

FIONA: Yes.

MOLLY BLOOM: What should my hair be like?

FIONA: You be as brownish red.

MOLLY BLOOM: Oh, I should get brownish red hair?

FIONA: Yeah.

MOLLY BLOOM: I like it. What about you? What do you want to do when you grow up?

EZRA: I want to be a physical therapist.

MOLLY BLOOM: What inspired you to want to do physical therapy? Anything in particular?

EZRA: I broke my elbow. I do like occupational therapy.

MOLLY BLOOM: How did you break your elbow?

EZRA: I felt off the monkey bars when I was like six.

MOLLY BLOOM: Well, I'm glad to see your arm is all better now. And getting your dream job can be tough for anybody, but people with conditions like Down syndrome are often told they can't do certain things, which can make chasing a dream even harder. Thankfully, there are people like Annie Dufresne out there giving lots of encouragement. She has Down syndrome too.

ANNIE DUFRESNE: I'm a program aid at Wing Link Center. Wing Link Developmental Center is a place for people with severe developmental disabilities. Students anywhere from age 3 to 26 learn and practice life skills. One of her favorite parts of the job is helping students with something called occupational therapy, or OT. Together, they practice everyday skills students might have trouble with on their own.

Like today's Wednesday. So Wednesday day is occupational therapy. They do a lot of fine motor skills, which is mostly hands-on. Like today, we-- like the students made pumpkins, and we make pumpkin faces. Sometimes, we make brownies. I remember a time we made jello.

MOLLY BLOOM: Annie says a lot of the students have trouble with the activities on their own, but with a little help, they get it done just fine. If they're really struggling, Annie will bust out a confidence-boosting pep talk.

ANNIE DUFRESNE: I probably will say I believe in you. You can do it. You can try it again. I think one of the skills that I teach people for getting the job is probably being positive, believing in their goals in life, and being able to achieve them, and how to be kind and patient to other people. Never give up on anything. Once you put your mind into it, you will succeed in everything you do.

[MUSIC PLAYING]

MOLLY BLOOM: That was 30-year-old Annie Dufresne. She spreads her words of wisdom in Bloomfield Hills, Michigan. She also had this advice for people meeting someone new with Down syndrome.

ANNIE DUFRESNE: I wish people can be more understanding and patient to communicate face-to-face, also slow down what they're trying to say so I can hear them.

MOLLY BLOOM: Being patient and slowing down your speech-- that's good advice. Fiona and Ezra, do you have any advice for when we meet someone with Down syndrome?

EZRA: Like talk slow but like, I mean, like don't go fast. But like don't talk down to them either.

ANNIE DUFRESNE: That's really good advice. So I think sometimes people meet someone with Down syndrome, and they notice that they look or talk different. And they're not quite sure what to do. And instead of trying to figure it out, they might just ignore them. Have you seen that happen before?

EZRA: Yeah.

FIONA: Yeah.

MOLLY BLOOM: So what do you think they should do instead of just ignoring the person?

EZRA: Go up and say hi. I mean, they're no different than anybody else. Just say hi.

FIONA: So hi.

EZRA: See if they want to play.

MOLLY BLOOM: Having an extra chromosome is just one trait of many. You might think someone with Down syndrome is really different from you. But you both might like shopkins or horses, and we all know some of the best friendships are founded on pizza. But maybe not with chicken and asparagus. Down syndrome is a condition where a person has an extra chromosome--

EZRA: --That can result in many different characteristics. But no two people down syndrome are the same.

FIONA: We have different likes and dislikes. And we have our own hopes and fears.

MOLLY BLOOM: People with Down syndrome may need extra help sometimes, but that doesn't mean they can't achieve big things.

SUBJECT 1: If you meet someone with down syndrome or any difference, really, don't be afraid to reach out and get to know them.

SUBJECT 2: You might make new friends.

MOLLY BLOOM: That's it for this episode of Brains On.

SUBJECT 3: Brains On is produced by Molly Bloom, Mark Sanchez, and Sanden Totten.

MOLLY BLOOM: Special thanks to Shelley and Joanna Harris, Laura Goodfellow, Christine Downey, Megan Rice and Beeman Elementary School in Vermont, Sandra Baker and the Down Syndrome Association of Los Angeles, Tracy Huffman with the Down Syndrome Association of Minnesota, Travis, Kyle, and everyone else at the Down Home Ranch.

FIONA: We had production performed--

MOLLY BLOOM: John Lambert, Emily Allen, Marcus [? Arswell, ?] Jon Kalish, and Lauren Dee.

SUBJECT 3: can always send a question to hello@brainson.org, or you can follow the show on Twitter or Instagram. Brains On is funded in part by a grant from the National Science Foundation. Before we go, it's time for our moment of ummm.

- Um, um, um, um, um, um, um, um, um.

LALO: Hi, my name is Lalo, and I was born in South Africa. One morning, when my mom was making me breakfast, I was wondering why the eggs were turning from clear to white when they were cooked.

PAUL ADAMS: My name is Paul Adams, and I am the senior research editor for Cook's Illustrated and America's Test Kitchen. One of my early childhood interests in cooking was about eggs and how visible and pleasing it is when you fry an egg.

Basically, an egg white is about 90% water with tiny little blobs of protein floating throughout it. And when it's raw, the blobs stay out of each other's way, and they're very small. And you can see through it because it's mostly water. And water is clear.

When you cook it, each protein blob, which is a folded up clump of long protein, unwinds, and so each one becomes a long string. And they all tangle together, so the whole egg white basically turns into a net. And it's solid. And there are tiny holes in the net, but they're too small for light to really pass through. So the light bounces off, and it looks white.

MOLLY BLOOM: Clearly, it's time for the most recent group of kids to be added to the Brains Honor Roll. Lilia Joy from Manhattan Beach, California; Lonnie and Bethany from Raleigh, North Carolina; and Tia from Ithaca;

Arthur from Nashville; Nathan from Mount Juliet, Tennessee; Aurora from Houston; Noah from Washington; Erin and Daphne from Tucson, Arizona; Amelia from Champaign, Illinois; Charlie from Minneapolis; Geneva from Bellingham, Washington; Maya and Mira from Charlottesville, Virginia; Brielle from Calgary;

Nick from Sydney, Australia; Nora from Tewksbury, Massachusetts; Timothy, Bethany, Rachel, and AJ from Round Rock, Texas; Tyson, Cameron, and Kaylee from Cedar Hills, Utah; Rowan from Juneau, Alaska;

Blake from Wilmington, Massachusetts; May from Austin, Texas; Thomas from San Francisco; Lucian from Tampa, Florida; Soraya from Bangalore, India; Sena and Luna from Oakland, California;

Hannah from White River Junction, Vermont; Sierra from Madison, Wisconsin; Eleanor and Maxwell from Plymouth, Michigan; Aidan from Nashville; Hill from Crozet, Virginia; Adrian and Ian from Santa Barbara, California; Lizzie and Emma from Oxford, Pennsylvania;

Giancarlo from Lima, Peru; Ezra, Jonah, and Orly from Silver Spring, Maryland; Romi from Duluth, Minnesota; Leila from Carlisle, Pennsylvania; Eleanor from Charlotte, North Carolina; Cora from Sunbury, Ohio; Cami from Oakwood, Ohio; Freya from Oakland, California;

Robert from Atlanta; Thomas, Lydia, and Marcus from Marquette, Michigan; Jethro from San Francisco; Ivan, Alan, and Clara from Silver Spring, Maryland; and Domenick from Stratford, New Hampshire.

[MUSIC PLAYING]

MOLLY BLOOM: We'll be back soon with more answers to your questions.

CHILDREN: Thanks for listening to me.