How Rare Disease Patients Are Rewriting The Rules Of Medicine

[0:17] what it's like when you put anything out there. [0:18] You're going to get blowback, no matter what the story is. [0:21] You're going to get people who are haters. [0:23] I'm fine with that. [0:24] I've got a pretty thick skin, [0:25] but the idea of putting my daughter out there [0:27] was not a thrilling one. [0:34] I've really tried to keep the personal life [0:37] and the work life pretty separate [0:39] because it's hard to operate. [0:41] This was not even something I thought I could talk about. [0:44] When I went to work, I shut down this part of my life. [0:51] Good morning, everybody. [0:52] Welcome to Squawk Box right here on CNBC. [0:56] I'm Becky Quick. [0:57] I'm a morning anchor at CNBC Squawk Box, [1:01] and I am the mom of Kaylee Quayle, [1:04] and she has a rare genetic disease. [1:06] It's called Sengap1. [1:07] We tell stories all the time. [1:23] We've just never told this story. [1:24] We've never told our story, and we had some trepidations. [1:29] And it has taken us nine years to get here on this couch [1:34] able to talk about it. [1:37] I'm Matt Quayle. [1:38] I am the producer of an afternoon show [1:41] on CNBC called Power Lunch. [1:43] I also do a show called US Markets Edition, which [1:45] is a show that airs in Europe and Asia. [1:48] Because of the position we're in, [1:50] we can be in front of the camera here, [1:51] and we can really use that for good. [1:55] Ready? [1:56] Woosh. [2:00] Kaylee was a very easy, happy baby. [2:02] Happy baby. [2:03] She smiled all the time and was just so excited to be [2:08] around people. [2:08] She still is. [2:10] Kaylee is. [2:11] She's got this sunshine personality and lights up [2:16] a room when she walks in. [2:17] Most of the time, she's pretty happy. [2:20] When she's not, everybody knows. [2:24] And for the first six months, I was so excited. [2:27] I was the happiest I've ever been in my life. [2:38] I could tell that there was something a little different. [2:41] I was concerned, so we started taking her to doctors. [2:44] And you have hope all the time. [2:45] Like, if I just take her to enough therapy sessions, [2:47] she's going to be OK. [2:49] And then you start rolling it back, and it's like, if she can [2:52] just walk, if she can just talk, if she can just find a friend. [3:00] I want to say it was the first birthday party. [3:02] It felt like a wake. [3:06] There was something so wrong with it. [3:08] And we were just, we knew we were trying to be happy, [3:12] and we were trying to celebrate it. [3:13] Happy birthday. [3:19] But she couldn't blow out the candle, right? [3:21] Like, that, we weren't there yet. [3:24] And she wasn't able to do that, so we kind of faked it [3:27] because we wanted to make it feel like it was normal. [3:31] It wasn't normal, and we knew it. [3:37] Fast forward to when we got the diagnosis. [3:40] It was just before Kaylee turned three. [3:42] It was September of 2019, just before COVID. [3:49] I remember where we were. [3:51] It's like one of those moments you know exactly where you were. [3:54] Every time I drive by that building, [3:57] that's the first thing I think about, [3:59] is sitting in that parking lot crying. [4:05] But at least there was an answer, a little bit. [4:10] SynGAP is a protein that your brain needs for its development. [4:14] But basically, kids who have SynGAP, [4:18] most of them have autism. [4:20] Virtually all of them have seizures. [4:23] They have developmental delays. [4:25] There are behaviors that are associated with it, [4:28] and intellectual disability. [4:30] Kaylee has been given, you know, a short straw. [4:36] And you've got to stop yourself [4:38] and remember that this is insane. [4:42] It's insanely frustrating. [4:44] I want to scream. [4:45] I want to cry. [4:46] I want to punch a wall when things go off the rails. [4:49] And just stop and remember that, you know, [4:53] she's the one that is, you know, suffering, not me. [4:57] We have a great life. [5:00] We have to remember that she's the one that, you know, [5:03] we're fighting for. [5:05] We're celebrating the signing and the funding of HB 907, [5:17] the Sunshine Genetics Act. [5:19] In Florida, a landmark piece of legislation [5:22] seeks to change how families detect serious conditions early. [5:27] The initiative offers whole genome sequencing [5:29] to check for hundreds of serious and often silent disorders. [5:33] Adam Anderson, the state legislator who introduced the bill, [5:37] says it moves diagnosis from reaction to prevention. [5:41] Did you hold your head up today? [5:43] It was probably around 15 months old [5:45] where we finally pushed very hard [5:48] to get genetic testing completed on Andrew. [5:52] And that gave us the ultimate diagnosis [5:55] that he had Tay-Sachs disease. [5:58] Tay-Sachs is a fatal inherited disorder. [6:01] There is no cure. [6:03] And once symptoms appear, the decline is unstoppable. [6:06] He passed away a little after 3 in the morning. [6:11] And I was woken at 3. [6:15] And I'm so fortunate that I was. [6:17] I was able to hold him in my arms when he passed away. [6:21] And for at least a year straight, [6:23] I'd wake up every single morning at about 3 o'clock. [6:25] In 2022, Anderson ran for a seat [6:29] in the Florida House and won. [6:31] Thank you, Mr. Chairman. [6:33] Rare disease policy quickly became a defining issue. [6:36] So many of these rare diseases, [6:38] they have just so significant [6:41] and detrimental impacts on your overall health. [6:45] But what if you can stop it from happening in the first place? [6:48] The initial rollout at Tampa General Hospital [6:51] will test that theory beginning this year. [6:53] And thanks to state and private funding, [6:55] it's free for parents and children. [6:57] The law also requires that the data be made anonymous [7:01] to protect participants against potential misuse. [7:04] A recent study conducted by New York Presbyterian [7:08] found that each year, 3.2% of babies [7:11] are born with clinically actionable conditions. [7:14] GeneDx CEO Catherine Stulin says [7:17] that's more than 100,000 newborns [7:19] whose lives could be improved or even saved. [7:23] Something that can be done immediately at birth [7:26] could be putting a birth certificate [7:28] on a baby on a ketogenic diet to prevent seizures. [7:31] It could be adding zinc as a supplement. [7:34] It could mean a clinical trial or an FDA-approved therapy. [7:37] An accurate diagnosis earlier helps ensure [7:40] that the right treatment path is in front of these families. [7:45] For Adam Anderson, [7:47] the Sunshine Genetics Act is his way [7:49] of trying to help those families avoid what he lost. [7:53] When you think about Drew, [7:55] is he forever four years old in your mind? [7:58] No, actually he's not. [8:00] I see him as a ten-year-old boy. [8:02] Yeah, not a four-year-old boy. [8:05] He's healthy. He's free. [8:19] At just two days old, [8:20] K.J. Muldoon was already fighting for his life. [8:23] Blood tests revealed a severe enzyme deficiency [8:27] called carbamoyl phosphate synthetase 1, or CPS1. [8:32] It's a metabolic disorder preventing his liver [8:34] from safely breaking down protein. [8:36] What did you think when they brought up the idea [8:38] of a gene therapy? [8:41] Right away, I kind of had this feeling [8:43] that there was something to it, [8:45] even though it seemed so far-fetched. [8:47] Doctors Rebecca Ahrens-Nicholas and Kiran Musunuru [8:50] raced to create a custom gene editing therapy [8:53] in just six months' time. [8:55] We couldn't spend one, two, three, four, five years [8:58] with what it usually takes to develop a drug. [9:00] We would have to make it within a few months [9:03] to have any chance of actually helping a patient like K.J. [9:06] The shocking speed of development [9:08] and accelerated regulatory approval [9:10] were unprecedented, making medical history. [9:12] We went from having that initial conversation [9:15] with Dr. Rebecca in October [9:18] to first infusion end of February. [9:22] I was incredibly excited and incredibly terrified [9:24] at the same time. [9:26] Gene therapies hold enormous potential, [9:28] but also serious risks. [9:30] How I would describe Terry is fearless. [9:33] He lived life in the best way he could. [9:38] He was kind. He was funny. [9:43] Rich Horgan lost his younger brother Terry in 2022, [9:47] just days after a clinical trial. [9:49] Terry had an ultra-rare form of Duchenne. [9:52] Duchenne is caused by a mutation in dystrophin. [9:56] Dystrophin is like the shocks on your car. [9:58] We were in effect trying to correct the mutation [10:01] on the DNA level. [10:03] Horgan founded a nonprofit biotech [10:05] in search of a drug to help Terry. [10:07] It took nearly four years, [10:09] but he curated a team able to produce [10:11] a personalized gene editing therapy [10:13] for his brother. [10:14] Terry had watched the process all along, [10:16] and so he'd seen the ups, the downs, [10:18] the challenges, the struggles, [10:19] but chose to proceed. [10:21] In messages that, you know, we read later [10:24] after he passed away, [10:27] you know, one of them said that he's not doing it for him. [10:32] He's doing it for the other patients. [10:35] Well, you have to be very proud of him. [10:38] Very proud. [10:42] How many patients are you all working with now? [10:45] Collectively, you know, we're in the tens of thousands [10:48] of patients that, if successful, [10:50] these drugs will hopefully help [10:52] in the not-so-distant future. [10:54] Today, KJ is thriving. [10:57] Recently, he even started walking, [10:59] taking small steps with giant implications [11:02] for the future of medicine, [11:04] and offering hope where there often is none. [11:10] Eleven-year-old Susanna Rosen [11:12] is enjoying a sense of freedom [11:14] that, up until recently, seemed out of reach. [11:17] Zoom around. You can go wherever you want. [11:19] Every maneuver on her new power chair [11:21] is a quiet triumph over a disease [11:24] that's tried to slow her down since the age of two. [11:31] Susanna has a mutation in her Kif1a gene [11:34] that slowly kills the nerves in her brain [11:37] and kills the nerves in her whole body. [11:40] Her condition is considered nano-rare, [11:42] affecting only a few dozen patients worldwide. [11:46] When doctors told Luke and Sally Rosen [11:48] that they had five years, [11:50] they quickly started a foundation [11:52] to identify experts who could help. [11:54] I recall banging down Stan Crook's door [11:57] and just calling and calling and calling [12:00] until he got back to me. [12:02] People arrive at our door hopeless. [12:04] Hopelessness is a terrible state for a human being. [12:09] It was Dr. Stanley Crook [12:12] who opened the door to the lifeline [12:14] the Rosens were searching for. [12:16] Crook founded Enlorem, [12:18] a nonprofit that uses antisense aglionucleotides, [12:22] or ASO therapies, [12:24] to target cells building faulty proteins. [12:27] Treatment is free for life. [12:29] We have five applications in the first ten minutes [12:32] after we open our doors, [12:34] so I knew that it was a much larger problem. [12:37] Unlike most biotech companies that are chasing scale, [12:40] Enlorem designs ultra-personalized therapies [12:43] for populations with 30 people or less. [12:46] For these families, the foundation is their only hope. [12:49] Today, Enlorem has more than 40 patients in treatment, [12:53] but Crook aims to grow that number. [12:56] What does it cost to save someone? [12:59] It's about $1.2 million. [13:01] For many of those ASOs, [13:04] we can treat more than one patient, [13:06] so I hope I can get the cost down [13:08] to somewhere around $700,000 a life. [13:10] You want to choose an ASO? [13:12] Three years into therapy, [13:14] Susanna's regression is impossible to ignore. [13:17] But her pain has subsided, [13:19] a measure of relief the Rosens don't take for granted. [13:22] If she doesn't go to treatment, [13:24] she's probably gonna die. [13:26] And if we can slow that down [13:28] and curb that severity of disease, [13:33] then maybe, you know, wheelchair or not, [13:40] maybe I'll be able to, um, [13:43] you know, dance with her at prom or something. [13:49] And that's something you think would never, Becky, [13:55] that's something you can never measure. [13:59] Yeah, um, but... [14:01] I think you're gonna get that dance. [14:08] I think so, too. [14:15] Just so you can see, inside this briefcase [14:17] is the Holy Grail. [14:22] The check for $10 million. [14:27] On Prime Video's Most Watched Reality series ever, [14:30] 50 million people around the world [14:33] witnessed an unlikely victory. [14:35] What? [14:36] 1,000 players faced off [14:39] for the $10 million jackpot. [14:41] Beast Games player number 831 [14:45] beat every odd and won. [14:47] Little man, he did that for you. [14:50] I remember Jen hugged me, um, and said, [14:52] we're gonna find a cure for Lucas. [14:54] And, uh, it's all a miracle. [15:03] Allen's son, Lucas, [15:04] suffers from an ultra-rare [15:06] creatine transporter deficiency. [15:08] We can't pull, sweet boy. [15:10] He's one of an estimated 500 known cases in the world. [15:13] Creatine is vital for brain function. [15:16] Disruptions can cause intellectual disability, [15:19] speech delays, and behavioral issues. [15:21] The urgency to kind of go, [15:23] okay, we have this platform, [15:25] we have the money to make a change [15:27] for Lucas and for kids with CTD, [15:29] like, we gotta, we gotta go. [15:31] Watching. [15:37] Allen plans to leverage his winnings [15:39] and newfound fame to drive research [15:42] that he hopes will lead to a cure. [15:44] Bye. Bye. [15:46] He's part of a growing chorus of parents [15:49] fighting for their children's futures. [15:51] I love you. [15:53] Even when the diagnosis is fatal. [15:56] We got the diagnosis, uh, [15:58] that Megan had this rare form of muscular dystrophy. [16:01] And he just said, I'm sorry, there's nothing you can do. [16:04] And then he looked down in the car, [16:06] the car carrier where we had our seven-day-old son, Patrick, [16:09] and said there was a 25% chance [16:11] that he may have the disease and needed to be tested. [16:14] Megan and Patrick Crowley both had Pompe disease, [16:17] a genetic mutation that severely weakens muscles [16:20] and enlarges the heart. [16:22] Left untreated, it becomes a death sentence, [16:25] an outcome John Crowley simply would not accept. [16:28] Instead, he walked away from a successful career [16:31] and went all in on Novazyme Pharmaceuticals, [16:34] a fledgling startup with a bold mission, [16:37] develop an enzyme to replace [16:39] what Pompe patients can't produce on their own. [16:42] I realized I probably need hundreds of millions of dollars [16:46] even for this one rare disease. [16:48] And I needed the horsepower of a much larger company [16:51] with their expertise, their capital. [16:53] And that's when the Genzyme deal came about. [16:55] They spent how much to acquire the company? [16:57] Just over $100 million to acquire our little company. [17:00] Today, Pompe disease is a condition patients can survive. [17:04] Crowley's children are now adults, [17:07] living lives he was once told wouldn't happen. [17:10] The science, the technology is there, is just exploding. [17:14] We're in the golden age of medicine. [17:16] We're not on the cusp anymore. [17:18] And the biggest challenges, Becky, are man-made. [17:20] As long as I keep going, we're gonna finish it. [17:24] Jeffrey Allen is confronting those challenges in stride. [17:33] Last February, he walked across the state of California [17:38] carrying the weight of his son, [17:40] traveling 365 miles to honor [17:43] the 365 days of the year Lucas battles his disease. [17:47] The bittersweet truth of being a parent of a rare disease child [17:51] is we're gonna find stuff for our children that's gonna help. [17:54] But the true beneficiaries are our families [17:57] who haven't even started yet. [18:00] Allen and countless other parents and caregivers [18:04] from all walks of life are rewriting the rules of medicine, [18:09] challenging how we value human life [18:15] and together, defying rare disease. [18:18] We're all kind of desperate for what can we do? [18:27] What can we possibly do to help our kids [18:30] and help other people who are going through the same path? [18:34] And Jeffrey has figured it out. [18:36] And a little bit of what CNBC Cures can potentially do [18:40] is use the power of the media to spread the message. [18:45] I still deep down believe that Kaylee was put on this planet [18:55] for a reason, and this may be it. [19:00] Some of that is, you know, [19:01] blind faith. [19:02] Some of it's hope. [19:03] Some of it is a parent searching for answers. [19:07] Some of it's a relationship with God. [19:10] But for whatever reason, we're here. [19:13] I do think Kaylee would want to help her friends [19:18] and people she hasn't met yet [19:20] because she is a good, sweet girl. [19:23] And I hope her legacy is that she has a long, wonderful life [19:30] and a beautiful family.