The Path with Becky Quick: Life with a Rare Disease 1/8/26

0:02This was not even something I thought I could talk about. I want to say it was the first birthday party. It felt like a wake. How do I give her the best possible life? Does this mean that she's going to die? If she can just walk. If she can just talk. If she can just find a friend.

0:25I'm Becky Quick. I've spent the last 25 years on camera at CNBC covering the people, the politics, the highs and lows of American business. Good morning, everybody. Welcome to Squawk Box right here on CNBC. Let's take a look at what's been happening with the U.S. equity futures. But there's another part of my life. Actually, it's the best part. Bye. Bye. Bye. I'm a mom to a child with a rare disease. There are fewer than a couple thousand people in the world like her. And my own story, my family's story, is one that I never thought I would tell. It's taken me years to get here.

1:16This is The Path, a podcast series about the hidden world of rare disease. I say hidden because there are thousands of potential conditions, Diseases, disorders, illnesses lurking in our genes, hidden in the basic code that makes us who we are. These are misdirections in neuropathways, deficits of critical proteins or enzymes, genetic typos, if you will, countless ways that biological chance can change our health or change our lives. Rare diseases, they're sometimes called orphan diseases, impact tiny populations of people who are actually lucky enough to get a diagnosis. 95 % of rare diseases lack a cure, and those who are affected and their families can feel very, very alone.

2:04Oh my goodness! I thought I was alone, but it turns out my family's story is like the story of so many others. We haven't been immune to life's tragedies or to grief. Things don't always go according to plan. And I'm on TV asking the hard questions, finding the best person to try and tackle the trickiest problems. Turns out that's my superpower. And the question became, can I use that superpower to find hope and build a community? That's what I want to be done here. Any one rare disease may show up in a handful of patients with, and here's a CNBC term for you, a pretty small total addressable market.

2:47but there are more than 10 ,000 rare diseases collectively impacting 30 million Americans. That's huge. It's 10 % of the population, and that means that probably someone you know is walking this path right now. Knowing how to treat disease that targets an individual's genetic code can unlock so much more about our own health or even the future of medicine. Technological advances are taking place at a breakneck pace. Artificial intelligence is speeding the progress and advancing the therapies that are happening so much faster than I believed was possible even just a couple of years ago. But for patients and families with rare disease, the pace is never fast enough because time is the enemy.

3:34What does the tiger say? What does he say? On this path, I'm going to talk to parents, families, doctors, and patients, to people who are trying to find answers or even cures. Six. Good job. Seven. I want to tell you my daughter Kaylee's story. She's nine years old. She's a mini-me, some people say, but I know she's better than I've ever been. And the best way that I could think on how to start is to sit down for an interview with my husband. Do I really talk to her while I'm speaking? Well, we're kind of talking like this and like this, right? I'm Becky Quick. I'm Matt Quayle. We work at CNBC, and we have a daughter who has a rare genetic disease called SYNGAP1.

4:27Pardon me? Okay, let's do this for real.

4:35Matt and I both work at CNBC and have for forever. We have two older kids, daughters who are launching their lives and careers, and two younger kids. My son Kyle was about five years old when he became a big brother in late 2016. Good morning and welcome to Squawk Box right here on CNBC. Becky's off today. Becky's off today for a very good reason because over the weekend, yes, the baby has arrived. just before midnight, I think, on Friday. On Friday. On Friday. Hailey Noel. Two girls already, but then the little boy and the little girl from the end. Oh, no, it's totally rounded out the whole. Yes.

5:12Man, I was so excited to bring her into this world. And she was smiling within a few days of being born. I couldn't remember. I couldn't believe it. I still have the picture of her smile. And I send it to people because people are like, oh, that's not a smile, that's gas. It was a smile. She has this huge smile on her face, and she...

5:38Kaylee was a very easy, happy baby. Happy baby. She smiles all the time and was just so excited to be around people. She still is. Kaylee is... She's got this sunshine personality and lights up a room when she walks in. Most of the time, she's pretty happy. When she's not, everybody knows. And for the first six months, I was so excited. I was the happiest I've ever been in my life. She was very smiley and super cute. And she was the bonus that we didn't even think was going to happen. Yeah. And, you know, we thought Kyle was the last. and we were embracing every moment as a parent with Kyle, thinking that, you know, it's the last time we're gonna do this.

6:34This is the last time we're gonna do this. Because, you know, as Kyle's starting to get older, oh my, this is the last fourth birthday party we're ever gonna have. So at first it was just like pure bonus material, thinking, oh, we get, you know, we get to do this all again. Ready? Whoosh.

6:58I was so happy. I felt pretty guilty because my brother had passed away about a year and a half before that. And after Brian passed away, he had been hit by a car. He suffered a traumatic brain injury. He was, you know, immobilized for the next 25 years. And Brian passed away, and it was devastating after living with my parents for all that time. And then my one sister-in-law got pregnant, and then my other sister-in-law got pregnant, and then I got pregnant. And we had all three of those babies within six months of each other. And we went on a big family vacation out of Florida when those babies were six months old.

7:42I thought, oh my gosh, this is Brian kind of shining on us and telling us it's gonna be okay.

7:52Do you want some more num-nums? Does Kaylee want more num-nums? Oh, peas! Yay, Kaylee! But around seven months or so, I started to get concerned about Kaylee. She still crossed her eyes too often. She wasn't rolling over. And sometimes she stared into space. It kind of seemed like she was resetting like a computer on the fritz at times. I was worried about it. You weren't at that point. No, I was... Kind of made fun of me for thinking there was something going on. But I could tell that there was something a little different. I was concerned, so we started taking her to doctors. And most of the doctors were not super concerned at first.

8:42went to a developmental doctor and eventually got a diagnosis that, yes, she has global developmental delays. But that basically just means we can't really tell what's going on. We don't know what's happening, but she's not meeting our milestones. I think I kind of often, I often just kept saying it, you know, oh, don't worry, you know, have faith. She's going to get there. God has a plan. I still think God has a plan, but I didn't realize that the context was different. That year of knowing but not knowing, knowing that something is off or something's not working right or something's not clicking, that gray year was really probably rough.

9:26Yeah, I mean, that was probably the worst. It was probably the worst. The parents of children with rare disease use one word a lot when describing the hard work of getting medical attention or getting close to some kind of answer to that question, what's wrong with my child? Odyssey. But the answers can be pretty blunt and pretty wrong at times. This is not an ordinary trip to the doctor for a couple of routine tests. It's a meandering, twisting journey of almost mythic proportions, turning a parent from truth seeker to advocate to fighter and back again. It was like that for us. I remember when we were told, not all kids go to college.

10:12Yeah. That line. And it's okay, don't worry. What he actually said was... College or Harvard. No, he said, you know, look, she may not be a Fortune 500 CEO, but she may go to college. And to mention those things, when you're dealing with a child who's a year old, maybe younger, like those are the type of things that send you into free fall as a parent. when you're still thinking about all the wonderful things that you have in mind for your child, about how they're going to live their lives and what you see happening for them. That period of time where you're just trying to do anything and you have hope all the time, like if I just take her to enough therapy sessions, she's going to be okay.

10:54And then you start to peel back and worry about what might not happen for her. And I remember at first thinking, OK, being mad when he said maybe she's not going to be a Fortune 500 CEO. And then thinking, if we could just get her to college, that would be great. And then thinking, well, she doesn't have to go to college. If she can just find something that she loves doing. And then you start rolling it back. And it's like, if she can just walk. If she can just talk. If she can just find a friend. It all blurs together as far as the timelines go, but you don't forget the emotion of thinking along the lines of that she's probably not going to get to experience the same things the same way that our other children have, and what that means and how devastating that is.

11:56that I remember the, I don't remember if it was the first or the second birthday party. Happy birthday, dear Kaylee. I want to say it was the first birthday party. It felt like a wake, right? It was just, there was something so wrong with it. And we were just, we knew we were trying to be happy and we were trying to celebrate it, but she couldn't blow out the candle. So we kind of faked it because we wanted to make it feel like it was normal. And it wasn't normal and we knew it. And it crushed us in some way. And then, you know, you have a series of those type events. Kaylee was behind other kids her age in terms of development.

12:45She was behind her cousins who were the same age and that made family gatherings pretty hard sometimes.

12:54She wasn't verbal and she struggled to communicate. We consulted with a neurologist who prescribed an EEG and that showed some unusual brain activity and seizures. Kaylee started on a long and varied road of medications that are designed to control her seizures. But just before Kaylee turned three, we got the results of a genetic test that showed Kaylee had Syngap 1. About 1 ,600 people on the planet have this diagnosis. So we had a word to describe what we were seeing, finally. But it wasn't that simple to take in or to understand. The diagnosis was devastating. I don't remember what I absorbed at that point and what I didn't.

13:34I remember where we were. It's like one of those moments you know exactly where you were. We were driving. We got the phone call in the car. She did. I was behind her. We pulled over into an office building right by CNBC's headquarters and we pulled into the back parking lot and she shared the news. We got out of one car and sat in one car together and I still know every time I drive by that building, that's the first thing I think about is sitting in that parking lot crying at least there was an answer a little bit but the but the answer was not very clear because it was so we didn't know what SYNGAP was nobody knew what SYNGAP was and our neurologist didn't know what it was and to look it up and and said you know you'll probably know more about this it was a Friday you'll probably know more about this by end of the weekend than we do.

14:33And we did it. But when it's such a rare disease, a thousand people on the planet have it, you don't know what you're dealing with. And so we searched the internet and we found a couple of parents groups that existed. And that's where we got most of our information. And I will tell you, it feels like such a lonely path. And so trying to be somebody who pulls it together and then finds the information on it, there's not a lot of information available, so a lot of it is still a void. And then trying to explain to other people what that means. There wasn't a lot of information other than at least Syngap was one of those genetic diseases that had been identified.

15:20Yeah, I can't imagine what it is for parents who get these now Get basically they're given a diagnosis of a number you know and that's the name of the Mutation or the disease or and that's all they got there's nowhere to go They have no other parents to talk to they have no other researchers who know anything about it I don't know what the lifespan is going to look like you don't know what their life quality is going to look like And that's really hard, too. The great unknown, I guess. That was one of the first things that we were like, does this mean that she's going to die? What does Syngap mean?

16:02Can she live a normal life? Can she grow old? Kaylee has Syngap-1, which means she only produces half of the Syngap protein needed for brain development. That means that she has seizures, developmental delays, and intellectual disabilities. And like most other Syngapians, that's right, we call them Syngapians, she has autism. Kaylee's autism is severe. She has apraxia, which means that even though she struggles to speak, she has very high receptive language and I think understands most of what is going on around her. Sometimes people think that just because she can't talk, she doesn't understand what they're saying and they talk about her right in front of her, sometimes unkindly.

16:46I've heard people call her retarded. They've called her spoiled or undisciplined. They've said she's too old to be in a stroller, which by the way is where she can feel the safest sometimes when we're out in the community. Or they've given us disapproving looks or said that she shouldn't be allowed to have so much screen time when we're in a restaurant with her at her brother's basketball games and she's on her iPad. I've heard all of that and so has she. People with Syngap have dendrites. Those are neural connections within your brain that transmit electrical impulses that look like these fat tree trunks all branched out together with lots of branches instead of the smooth vines that would be in a neurotypical brain.

17:30A friend of mine whose son had brain cancer took one look at the image of a syngapian's brain and said it looked just like the brain of a child who had received radiation for brain tumors. Those bold trunks of synapses instead of the sleek connections that most people have mean that Kayleigh can be overwhelmed by the flood of input coming her way. Sometimes she bites herself as a result as she tries to manage it all, and sometimes she bites me or her father. She doesn't mean it, we know that, but it's hard to process it and react with grace as it's happening sometimes. Learn SYNGAP as you go, right?

18:06It's like when there's 250 cases in the United States, you're going to learn as you go. Nobody really totally understands it. Kaylee shocks me all the time with stuff that you just, you know, like what did she just do there? And as a parent, when you find this out, you're so hopeless. You just think, someone please throw us a line, you know? So you're automatically in a stage where you're willing to believe anybody who's offering you hope. but years of training in my profession has also taught me to be a bit skeptical

18:49so and also by the way years of going through trying to find a cure for traumatic brain injury with my brother we'd been down the research path we'd been down the brain stem cells and all of these things that were supposed to be promising research followed christopher reeve foundation and all these things that you think will eventually get you somewhere. And things never develop as quickly as you want them to or as you hope they might. And so we were looking for places where they might be able to do research, but in the back of my mind I've always got a little bit of a spidey sense about look out for the charlatans, look out for the people who are on the take, but also look out for the people who aren't going to move with the same urgency that we are.

19:33There are lots of good people who are doing research who don't have that same level of urgency, which is find it, fix it. Find what the science can do and figure out how to get it into patients as quickly as possible. I don't care about you publishing. I don't care about any of the other things that come along with this. I want it to be safe and effective in that order, and I want it to be as fast as possible. and there aren't too many places where they have the same mindset as the parents. We'll be right back.

20:14Yeah, I mean, we never took time off from work after we got the diagnosis. That was a Friday. On Monday, we went back to work because I don't think we really know any other way to operate. I would, yeah, I would say this, that at least my thinking along the lines of working changed. Everything changed. Our life plan there changed. Most people, you're married, you have kids, they go to college. You start thinking about the next stage in your life in retirement, and you've been saving up and blah, blah, blah. We're going to go sit on a beach and sit margaritas. And Kaylee has reset our whole life plan.

21:01I don't have to just, you know, save for my retirement. Right now I have to one day I'm going to be gone. And is Kaylee going to be OK? So now my whole thought process towards retirement is, well, now I can't retire till I know Kaylee will be OK for the next 90 years. One day she's going to be we're not going to be here. And she is. and have we done what we've needed to do to prepare for that day for her? I get up at 3.45 in the morning and I still go to work, and sometimes that's an escape. It's three hours when I'm on TV that I am not thinking about this and singularly this, because the other 21 hours, this is what I think about.

21:54And, you know, sometimes you need to pull yourself out of the immediate moment. And squawk box is a good distraction. It might be too overwhelming otherwise. Hi, KK. Whoa, look at Kaylee. When you are raising a child who has a rare genetic disease, day-to-day life takes everything you can to get through it. And making sure your child's safe, making sure, you know, these kids need help going to the bathroom. They need help getting dressed. They need help bathing. They need help eating. They need constant care. They may need help making sure they sleep through the night. That takes up so much of your life and your your energy as a parent, but that's the, how do I give her the best possible life?

22:52That's the track you're following. But then the other part is, okay, how do we find some therapy or a cure to help her too? And there's only so many hours in the day. And that's before you consider your other kids, before you consider your day job. How do you run both those paths at the same time? Work with dedicated therapists, doctors, and teachers has helped tremendously. Kaylee continues to make progress, and we've learned a lot about how to best try and help her, but we've got a long, long way to go. When you get into your deepest, like, why did this happen? Why did this happen? And I used to always think, like, oh.

23:30And part of me at one point said Kaylee was given this disease, this mutation, because we are going to help solve it. And she could be the one. And the reason she could be the one is because we have the access in our professional lives that we can actually make a difference here. The reason Kaylee has this is because she is going to be special. There's going to be something. But I definitely remember thinking that, OK, this is a card that we've been given because Kaylee was put on this earth to us. And we are in a position that maybe we can help move that ball forward. We're the lucky ones. We have resources.

24:19We have a strong family group. We have support. And, you know, Matt and I were sitting around at one point and just thought, why can't we do something with CNBC to help bring these families together and to help find ways? You know, there's all these amazing things that we're seeing in the science, that we're seeing in the laboratories. And for some reason, it takes a really long time to get that science into the patient's arms. So what are the roadblocks? What are the boundaries? How can we help identify that? And then because there are so many different rare diseases, 7 ,000 to 10 ,000 different rare diseases that impact 30 million Americans, why should we reinvent the wheel with every one of those groups?

25:08Can't we learn from each other and figure out how to streamline this and figure out how to bring everybody along? Because there's just not enough money to do this 7 ,000 times, 8 ,000 times, 9 ,000 times. So how do you try and figure out the best way to push forward and bring along as many people as you can with that? And then it's such a lonely path. How do you make it feel a little less lonely for people who are all trying to figure this out the same as we were? We're still trying to figure it out. We'll be right back.

25:46Welcome back to The Path. Squawk Box marked its 30th anniversary in 2025. We were invited to ring the opening bell at the NASDAQ market site, ceremoniously beginning trading for the day. Our family surprised us all on set, and I had no idea that Kaylee was about to make her television debut. If I had, I'd probably have been terrified. Oh my God, you got... This is crazy. I thought it was just you guys. Now it's everybody? You can stand right here, Kaylee. Oh my God. Wow. But it turns out I didn't need to be. Becky's going to cry. There's all these times where we think, oh, can she do this? Can she do that?

26:27And, you know, just a few years ago, I don't think we would have been comfortable because, you know, I don't think we had her behavior, you know, outburst under control or she hadn't. She wouldn't be able to control it. So explain it. When Kaylee gets sensory overload, I don't know what's happening in her mind, but I know it completely floods her brain. And it hurts. And she cries. And she bites herself. And she bites us. Every time we put her in a situation now where we're worried about, will she be able to handle it, she shines. Yeah. Like she took over the opening bell at the NASDAQ and she started pushing the button herself.

27:08And it's just like, it was like, like, we were just so hopeful at the, when we were like, can we get her there? And can she just sit on your lap? I didn't know. I'm glad I didn't know in advance. I had to keep this from her because otherwise this would have been a whole thing. It's a family. It really is. There is the opening bell and the CBC real time exchange. She overperformed, right? And then she embraced the moment and she loved it. The crowds didn't get to her, which I was thrilled about. The lights didn't bother her. She worked through all of that. I mean, we still can't sing Happy Birthday because it sends her into an emotional overload.