The Path with Becky Quick: Finding Hope 1/30/26

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0:59Well, gosh, if this is the last thing she sees, do I want to be looking at her and smiling, or do I want her to know exactly how I feel and that I'm terrified and crying? Oh, see, can you see? There's this purity that isn't the disease. It's the person. This isn't normal, and this isn't pain-free.

1:29I'm Becky Quick. This is The Path from CNBC Cures, a podcast series about the people, the struggles, and the science of rare disease. If you listened to or watched our first episode, thank you. Thank you so much for opening your hearts to my family and our daughter's story. She's one of the millions of Americans with a rare genetic disease. Kaylee's disease is called SYNGAP1. It's a neurodevelopmental disorder that causes conditions like autism and intellectual disability. People with SYNGAP often have difficulty communicating, and there is no cure, at least right now. Happy birthday to me. Happy birthday to me.

2:15Deciding whether to share Kaylee's story was something that my husband Matt and I struggled with for years. Why? You don't want to go? Well, Kaylee, now you do our wrestle time. We are both very private people, and we are especially protective of Kaylee. And not being able to ask her consent on this project made us second-guess ourselves for a long time. But the outreach and response has been incredible. It's beyond anything either of us has ever experienced. We've received thousands of emails, texts, and calls, and your comments on YouTube and across social media. Many of you shared your stories about children like Kaylee or about people you love who are walking this path of rare disease.

2:57Please, let's keep this conversation going. We've set up a new email address. It's cnbc.cures at cnbc.com. You can email us to share your story or to learn more about the CNBC Cures Initiative. But the response has been overwhelming and gratifying. I called this series The Path for a few reasons. rare in the life around it, is not one and done. Like my daughter's therapies that are very targeted, it's repetition, reinvention, recommitment, again and again and again. Today's story is about two heroes who have done just that, and they have offered hope, brought by courage, by pioneering science, and by astonishing bravery.

3:39Luke Rosen is a hero to me. He is such a good friend, and in another life, he played heroes on television. He also happens to be a real-life firefighter in New York. I first met Luke Rosen a couple of weeks into my daughter's SYNGAP1 diagnosis, and he was wonderful. He answered my questions patiently, thoughtfully. He gave me hope. Wait, okay. Okay. My name is Luke Rosen, and before anything, I'm Susanna's dad. And I have an incredible family. and my wife Sally and I started a foundation called KIF1A.org. First of all, tell me about yourself. I was born in New York. My mom's a Boston Irish. You know, my dad was Brooklyn Jew through and through and it just, you know, I was doomed from the beginning.

4:29Sally and I met in college. So we've been together for about 20 years and we've been married for 10. We were living on the Upper West Side in Manhattan and I had at that point had a pretty, you know, thriving career as an actor. New York and a writer. The bureau will need a full review of your hiring practices. That's necessary. The deceased officer had four different social security numbers attributed to his name. And Sally works with a wonderful chef. And so we had a really great thing going. We had a really good normal, right? We had our first child, Nat. He was incredible. And then three years later, that's when we had Susanna and that's where our world changed.

5:10Tell me about when you first realized there was something different, something that was going on. We realized something different was going on with Susanna in the bathtub. Sally has this incredible way of when the kids are in the bath, she sings this little song like kick, kick, kick, kick, kick. Right. And then when Susanna got in the bath, we started going in there to sing the kick song. She couldn't kick her legs after we found out that she couldn't kick. We went to the hospital and we sought pretty urgent care about it. How old was Susanna? She was two and a half. But she was walking already.

5:53She was couch surfing. Okay. And she was, you know, army crawling. Yeah. But she was walking with assistance. But she still, we knew she had a very ataxic gait. She didn't have great balance. And then the more we learned about the disease, we knew that walking and that ability to ambulate would probably not be in her future. What is KIF-1A? KIF-1A is a molecular motor protein that is really vital for brain function, and especially neuronal growth and neuronal health, the health of your neurons. and it's a really important gene and a really important protein for all of us we all have a kif1a gene and um susanna has a mutation in her kif1a gene that uh it's called a toxic gain of function mutation and um when i heard that i thought oh gain of function that's good it's not good you know and um so the function that that gene gains is giving off this really toxic element of protein that uh slowly kills the nerves in her brain and kills her uh the nerves in her her uh your whole body yeah how has that journey kind of progressed from the time when she was two and a half years old and you rushed her to the hospital yeah the journey is it's it's a different answer every day, right?

7:27I mean, the journey's progressed physically and medically, and the journey's progressed emotionally. You find your tribe quickly, like you and I, you know, it was, you find somebody else who's feeling as isolated as you are. We watch our kids, you know, slowly lose the ability to walk, to talk, to, she has several seizures a day. But in the midst of all these challenges, we're also fighting for treatment, right? that doesn't exist and it didn't exist. And so you took on this kind of incredible path to go out there, create the foundation, and try and find out what you could possibly do. How did you start it?

8:11How did you even know where to begin? Someone told us, you know, she's an incredible physician. You may know Wendy Chung. And Wendy was the first person to tell us about the disease and what first person to see Susanna and really give us the diagnosis. It is just incredibly hard to be a parent in this situation. It feels sometimes like the weight of the world is on your shoulders. KIF-1A has no treatment. It has no treatment. It has no cure. It has nothing other than symptomatic relief right now. And we know that left to its own devices, it will kill our children. Wendy said this is very articulate and very empathetically told us that, you know, we don't know much about the disease.

8:52um Susanna probably won't walk Susanna will probably have a lot of seizures she probably um will be in a wheelchair and we don't know much about the lifespan of your daughter so there were a lot of tears in that room and um Sally and I just kind of sat there and I I've said this before but I in my head I kept saying to myself how am I gonna tell Matt like how am I gonna tell her older brother how am I gonna tell her older brother that um

9:31all of this like how do I do that and um Wendy looked right at me in the eyes and she said he is going to grow up to be a remarkable young man. And he is, but he's remarkable in a way that nobody should have to be, you know. So that was the beginning of our incredibly new and terrifying normal. Thank you, Dr. John, class. There you go. When we got Susanna's diagnosis, I got the call from the doctor to go over and pick up the, get the paper or get the actual diagnosis. And that's when I'm reading this paper or I'm reading this horrific publication about brain atrophy, about death, about what is about to happen.

10:32and I came home to tell Sally and I was I opened the like looked in our kitchen and she was her back was to me getting something out of the refrigerator and she didn't see me and I thought in my head maybe I could give Sally another two maybe if I go and just get a coffee or something I could give her two minutes without knowing this, without knowing that our daughter is really sick, and without knowing that our lives have completely changed. Can I just give her that two minutes of not knowing what she's about to find out? I just stood there for an extra minute and looked at her until she turned around.

11:17And that's when I said, look, this is, um, we have a really sick kid. And it was terrifying and we hadn't cried like that. Then it brings you closer or it splinters you. And I'm thankful that it brought us closer because I wouldn't be anything without her. I mean, the idea that you thought of giving her that extra few minutes of the last peace you're ever going to have in your life. Yeah, because it is. I mean, imagine if we could just have another... Ignorant day. Another ignorant day. Instead, we have to become smart in ways that we never thought we had to be. Yeah. Another ignorant day. I wish I had a few more of those.

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13:47Welcome back to The Path. I'm Becky Quick. Let it shine, let it shine. Put it on my eyebrow. I mean, I don't want people to not realize that Susanna has real spark. I mean, she's pretty amazing, too. She's got all these things she's dealing with, but she's funny. She's funny. she is funny um she uh the other day when uh we we find ourselves in the emergency room a lot for random reasons we were in the emergency room and our doctor was not there so we find ourselves and i think you might know this very well too is you're educating the medical community too and so um i could tell the doctor you know we'll be right back i mean they were going to google it right and what is kifuena yeah yeah yeah and so um uh but susanna uh they were coming in and they susanna saw the you know the the cart that has the you know the vital stuff on it the the um cuff for the blood pressure and all that stuff and and she just went like this she put out her arm and put out her hand and was like you know pulse ox and if you're taking blood I'll just do it.

15:12The other hero in this story is Dr. Stanley Crook. He is the founder of Ionis Pharmaceuticals. Hello, everybody. I'm Stan. He's even appeared on CNBC as a biotech leader, like he did on this hit. You get about$200 million, I think$220 million if it's an anusins drug in pre-commercial milestones. And$90 million pre-commercial milestones if it's a different modality. So in the end, it's focused on the patient, and I think the patients will be the big winners. All right, good luck. We appreciate it, doctor, and Biogenida, quite a partner to have. Did you hear all that? They're a wonderful group. Yeah, they are.

15:53Carl Icahn, how did he know about Biogenida? How does he? The gut. You think he knew all that? You think he knew about antisense technology with Biogenida? He had a gut on this. But it's the work he's doing now, a pioneering technique of turning short synthetic strands of genetic code, DNA or RNA, into medicine that will be his legacy. Hi, I'm Stan Crook. I founded and am chairman and CEO of Enlorem, a nonprofit foundation doing its best to help extremely rare patients, patients with extremely rare diseases. Before that, I was founder, chairman, CEO, and lead scientist at a company called Ionis that created Anosense Technology, the technology we use at Enlarum.

16:37Yeah, well, I think rare disease, the definition of rare disease is changing as we sequence more humans. And rare disease was defined by the FDA as a population of 200 ,000 or less patients with a particular disease. But we now know that there are many, many pathogenic mutations that produce disease in far fewer patients. We at NMARM are focused on a particular slice of the population called NanoRare, and our focus is on these patients because they have no hope. There is no solution for them other than what we can offer. And one of the reasons that they have no hope and no solution is that they're so rare.

17:28A nanorare mutation is a pathogenic mutation with a known prevalence of less than 30 humans in the world. If you can imagine the isolation and the desperation and the lack of information that's available when you're one of 30 or one of 10 patients in the whole world. And these patients have always existed, but they got lumped into other diseases. And we know them now because we're sequencing human beings and identifying this very, very rare spectrum of genetic diseases. How did you get involved in NanoRare? What led you to that point? Well, at the time, I was running Ionis, which is the company I founded.

18:17And I was visited by two sets of parents, both of whom had boys with mutations in a gene called SCN2A. There are a lot of gene names, but it encodes a sodium channel. And we are electrical machines, and we function because we can move electrical charges around, and those are called ions. And so SCN2A codes for a protein that moves sodium ions across membranes. And as a consequence, these boys just had horrible syndromes. If you can imagine your child seizing all day, every day, and having movement disorders, ballistic movement disorders that you can't control, autonomic dysfunction, inability to control breathing, heart rate.

19:19I mean, it's just a terrible disease. And they were there to see if we could help them, and I had to tell them that indication was just too small for IOS to pursue commercially. But in that conversation, I realized that the technology that we had invented was efficient enough that I could make a drug for one of those boys and give it to them. Just give it to them. And that stayed with me. Was that kind of like a lightning moment for you? It was a gravitational moment. And I realized that I had led the creation of this technology that could in principle do this. And there were patients like these boys in need.

20:14And I kept looking at the space. And the more I looked, the more desperate it looked and the worse the conditions became. and the more it became very clear that it's something that I was equipped to try to deal with. And so in 2020, when I retired from Ionis, I founded Enlorum. It's got a lousy name, anti-sense technology. Well, yeah, I didn't make that up. But so, you know, your genes are red left to right. and that makes sense. You have a second strand of DNA that's the opposite direction. That's called an antisense strand. And so the idea of antisense technology was to take advantage of the genetic code directly and create little, instead of poly, many nucleotides, little oligo, a few of these genetic letters that would then use the genetic information directly to bind to a specific target in RNA.

21:28And that direction that the ASO is designed for is the antisense direction. And so it made sense to call it antisense oligonucleotides from a scientific perspective. But as people have told me for about 40 years now, bad branding. Antisense aglionucleotide. I know, it's a mouthful, but an ASO therapy is a way to correct disease-causing protein levels in patients. Sometimes your body produces too much of a protein. Sometimes it's not enough. In my daughter Kaylee's case, her brain's not producing enough SYNGAP protein. If there was a way to convince her body to boost the production of that SYNGAP protein through a therapeutic injection, let's say, we have real reason to believe that with the proper levels, her brain could develop more fully.

22:18It could make the synapses fire properly, build stronger connections, and that would help her in many, many ways. It's promising. It's not a permanent solution. So I went to different conferences, Global Genes and some other, you know, opportunities where there were lots of rare disease families together. And then I honed in on those two groups, Huntington's disease and SMA. And both of those diseases were being treated with an antisense oligonucleotide or an ASO. And I went to one company and I said, can you make an ASO for Susanna, kids like her? And the answer at first was too rare. Sorry. sickening to to say the word market size in the same sentence as our kids horrific degenerative disease right you're certainly not thinking about a market size but and i was still mad um but then i realized that okay what wendy was telling me to do was to find out what they were what their mission what their approach was what their strategy was and then uh that's what we started doing and i i recall banging down stan crook's door and and just calling and calling and calling until until he got back to me and um that's one of the first times that i felt a lot of hope and um this like isolation on that island of rare disease that were on i felt other people coming on to it and saying hey do you need a raft to get off this islands.

24:03What were the next steps? How long did it take from the time she was accepted to the program to the point where she actually received her first ASO therapy? Two years, maybe a little bit over. And now I know they've significantly decreased that time, but Susanna was, I think, the second person. So it was really just sorting out things. I remember being in the endoscopy sweet when she finally did get dosed or in the like we were in the OR at that point and some of the people in that room I was in there and some of the people in that room I looked and they were like you know let's hope this works and you watch them I guess start to inject it it was IV or was it so we had to leave after so we went in she was anesthetized and by the way people don't didn't tell us uh that when your child is being anesthetized um sometimes they shake a lot uh and so the first time Susanna had anesthesia it wasn't for this it was for another time you know we it was the most isn't this so hard when your child is going and going under and you're there and you think well gosh if this is the last thing she sees like how do I want to look for her do i want to be looking at her and smiling or do i want her to know exactly how i feel and that i'm terrified and crying and so she um she closed her eyes and fell asleep and i just i kissed her on her her forehead and sally kissed her and um and we we left and we just waited and it was really uh but i kept thinking about that this what if this is what if this is the last time she sees me as she was falling asleep?

25:58And that was, how do you want your child to remember you? How do you... Because if I was being honest with her at that moment, and probably most of her life, the answer was terrified and helpless. And that's not what you want your children to think of you, but that's how I feel with these diseases. So what did you do? Did you smile? I did. And I lied to her because I, and that's, you know, I forced a smile. I mean, it was the first time we left the hospital feeling good instead of leaving with this catastrophic news that something else had happened. But, you know, just forcing that smile because I know, imagine how scared she was.

26:47Right. No, I've done the same thing. You've done the same thing. How do you? How do you do you smile? I don't know what. Yeah. Yeah. You don't want them to feel worse than they already do. Or scared, as scared as we are. Yeah. Or does she even understand that? I don't know. Well, I think, I know for sure Kaylee feels my anxiety levels and my fear factor. So anything I can do to shut that down. Take a monster. Look at you go. All by yourself. Nat looked at me and said, is this medicine going to help Susanna think differently? And I said, well, what do you mean? And he said, is it going to help her play with other kids?

27:36Is it going to, I don't know. And that notion, it hit me pretty hard that, no, she's probably not going to read. you know she's probably not going to do these things that we all take so for granted and you know sally said the other day just i wish she could just read a sentence you know if she just read something and that's because you know that would be remarkable but it's just not in the cards i used to wish all the time think if she could just have a friend yeah Yeah. And I can tell that they want a friend. Susanna wants a friend. She can't have a sleepover. You want to roar? Roar!

28:29People don't quite understand what intellectual disability is, and it's so severe for kids like Garzan. And she can't confide in somebody because she doesn't know what that means and she can't um she'll hug somebody yeah you know so maybe there's a physical but uh people don't necessarily know how to react to that yeah and i knew my son was really in tune and and an empath when uh he started describing people who are in wheelchairs or just getting around differently yeah because you tell that there's this purity that kids have that goes away it's fleeting right but he's so um committed to his sister and to normalizing what's not normal but it's it's kind of a it's an endeavor that's going to be really hard this isn't normal and this isn't pain-free We'll be right back.

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30:43The fights we must win. The future we must secure together for our nation. This is what's in front of us. This determines what's next for all of us. We are Marines. We were made for this.

31:12Welcome back to The Path. I'm Becky Quick. Um, hat put on. Mm-hmm. And then I got a Pez shopper. And what did you see after the second dose? It was breakfast. So you'll understand this. our breakfast together as a family is insane. I mean, it's, you know, things are getting thrown. Susanna is very trapped. She has a lot of tremors. And so she was, you know, people are spilling things and my son is getting anxious because all this is happening. He has to go to school and we're cleaning up everything and it's never a peaceful breakfast. But one morning after she had received treatment, we were sitting at breakfast and I was like, something is wrong.

32:02Like, what is wrong? Something's horribly wrong. But it wasn't. It was the fact that it was quiet and we were able to, like, look at each other. And she held up her tremor was gone. So the treatment, and it has since, she no longer has a tremor. and now that's not a you know that's not an FDA approved outcome measure right or an end point but it is something that just means the world to us because we can have that time together and still to this day we can have that time together and she still has her challenges and problems but just that tremor going away where we can have breakfast together that's when I knew that the drug was working

32:48Oh my goodness. See? Look at that. Get up. You know you. Okay. What other signs point to that? What other signs tell you? Because you're right. This idea of trying to put up a clinical trial where you say these are our endpoints, this is what we have to meet. it's really hard to sometimes get to those measurable outcomes scientifically measurable outcomes even though you know as a parent that there's progress taking place yeah and we made mistakes with that trial just one mistake and um and that was one of the tools they were using to measure her ambulation is something called the six minute walk test right you walk for six minutes around these cones and but one thing that this treatment wasn't targeting wasn't affecting is um susan the disease does you know she was losing her ability to walk slowly and um right now she's fully in a wheelchair so that measure is wholly moved it doesn't matter to us because you know we're not going to force her out of her wheelchair and try to get her to walk.

34:07Right. Her fuel tank was on empty every day at 2 PM. Yeah. And she would be writhing in pain because she had this, and that's the hardest part is, um, she had, has this horrible peripheral neuropathy. And so she was writhing in pain and in her, in her own way, she would wake up and say, you know, my feet are burning on the inside. And it, it was a hard the pain seeing your daughter in pain i mean you know is just but her peripheral neuropathy started going away so those painful mornings were god if you can eliminate pain my god that was that's it you know i'm not seeing her in pain anymore and she would come home from school at you barely make it through a couple of hours of school and then she would just be in bed because she had was having seizures all night in her sleep and wasn't getting the right sleep and so that went away she was a little bit more she was more energetic and focused and slowly could make it through an entire day of school so she wasn't in pain or as much pain she was making it through school breakfast wasn't such a catastrophe um and she was able to sit through a baseball game and sing songs that that

35:32and we are so fortunate that our daughter out of all the challenges she has that you know she can express herself in ways that I know others can't and I never take that for granted because that is one thing that is just you know we look at it and this is something that Dr. Chung had told me too when I said, how do we, how should we look at this? Like, what is the, how do we look at this? And she said, it's like a highway with five lanes on it. And those lanes are, you know, cognition, fine motor, gross motor, all these different, you know, sight. Susanna is losing her vision right now, which is really hard.