The Path with Becky Quick: Head of the Class 3/20/26

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0:58They wanted to initially start talking about comfort care, so end-of-life care. We had to give them an opportunity to fight. What did you think when they brought up the idea of gene therapy? Kind of far-fetched. Kind of stuff you hear about on, like, podcasts.

1:15I'm Becky Quick. This is The Path, a podcast series from CNBC Cures about the people, the powerful communities, and the pioneers of rare disease. even the smallest pioneers. Hi. Hi, cutie. Yay. Who are all these people? K.J. Muldoon, or Baby K.J., is the first person in the world to receive a personalized CRISPR-based gene editing therapy. He is the whole data set. He's one of a kind, and he is a success story of modern medicine, a hopeful sign for any of the 30 million Americans impacted by the thousands of rare diseases and conditions. Rare can mean a lot of things. These conditions can be misdirections in neuropathways, deficits of critical proteins or enzymes, sort of genetic typos, biological chances that impact small patient populations, and 95 % of rare diseases lack a cure.

2:16He looks like such a happy boy. Born with the rare genetic deficiency CPS1, KJ was just hours old when it became clear that a severe enzyme deficiency was preventing his liver from working properly. This condition is so rare that it affects just one child out of every 1.3 million babies, and most don't survive long enough for a liver transplant, which is the only known cure. until KJ received a custom gene editing therapy from doctors at the Children's Hospital of Philadelphia before his first birthday. He lost one shoe. Ready? Yeah. Of course. You want to hold him up and put it on? KJ is incredible and humble for a pioneer.

3:01When I spoke to the Muldoon family in Philadelphia, he was just starting to walk.

3:10Yay! Hi, I'm Nicole. And I'm Kyle Muldoon. And we're KJ's parents.

3:19We had KJ in August of 2024. Was the pregnancy with KJ like your other pregnancies? No. What happened? The concern with that pregnancy, it was a very high-risk pregnancy, was actually with me. and a few different things happened and we ended up finding maternal fetal medicine at Penn three weeks before KJ decided he was ready to come. I went through emergency c-section because the day he was born I actually hemorrhaged. So Kyle was at work I was like um we need to go to the hospital right now and I had had small hemorrhages three other times leading up to this But at this point, they were like, he needs to come right now.

4:07And they were worried about your health, not his. Yeah, there was a pretty high percentage of me maybe not making it. What kind of percentages did they tell you? Like 80%. Oh, gosh. And you're a mom with three kids? Yes. Sorry. Already? Yeah, I told them, like, my kids need me. My husband needs me to save us both. I don't care what you have to take out in order for us to both survive. But my kids all need me to be here. So I planned. We planned. I wrote letters in case. But thankfully, I woke up and was able to delete all of them. You wrote letters to your husband and your children? My husband, all of my kids for different milestones.

4:54But we were able to. I had them scheduled to send. So as soon as I woke up, I deleted the schedules. um and then about eight eight hours yeah it was long eight hours of surgery after kj left so kj was born and they put me under and he went straight into the NICU and the whole time like I'm worried about Nicole and what's going on with her and they originally told me it was a two-hour surgery and then they eventually brought her over to University of Penn Hospital um where we uh Recovery. Yeah, recovery. We kind of like, it was a little bit of sigh of relief there for about 10 minutes. 10 minutes, you thought you dodged the bullet.

5:39Yeah, yeah. And then what happened? I was in IC for a little while and they said, you know, if all goes well, KJ will be joining you on the women's health floor because he's doing really well up here. And Kyle woke up around 1 o 'clock in the morning and was like, they said he was going to come down. I don't know what. So he went up to the NICU just to check in. And that's when they had him on CPAP? Yeah, they had originally. So that morning they had taken him off the CPAP. And that night I went back, you know, early the next morning, went back up there and he was back on the CPAP. And, you know, they weren't loving his breathing and he didn't take well to the feeds originally.

6:25So at first it kind of seemed precautionary. As that day goes on, I think early Saturday morning they came in and they said, like, we have some concern about like almost his movement. So they would like pick his arm up and like instead of it just like dropped him like a normal, you know, one day old wood. It was like shaking. It was very rigid. rigid movement so they thought it was something neurological um so they originally like had brought up like sepsis or meningitis um so then that day kind of starts like the whole whirlwind of like so as they're trying to run tests i'm still waiting to go be able to see them you haven't seen your son no so they get me ready to go up kyle wheels me up to the NICU and that's when the doctor had come in and said um it's not meningitis it's not sepsis we think we know what's wrong with him but we need to act right now and he needs to go next door to chop to chop yes so that started like okay um yeah and those like for those who aren't familiar pen and chop like share a tunnel system underneath there and uh he ended up over here in the middle of the night um he went to like internal radiology and um they started kind of telling us that he had a very high level of ammonia in his body um now we kind of it's like second the second language to us But at the time, like, I knew ammonia is like a cleaning product.

8:07So when he got over here, they're like, we're going to have to put him on dialysis and get this ammonia out of his body. Basically filter out his blood, clean the blood. I mean, you're 36 hours into this. You've gone through an eight-hour surgery. You're trying to make sure your other three children are cared for in that time period. And you're hearing a lot of terms you've never heard before, things you've never thought about. How much did it register with you at that point that this is really bad? Your typical ammonia levels or what would be normal is anywhere between the numbers of 9 and 33.

8:42Yeah. 9 and 33. And KJ's was up in the 1600s. So that's why they acted so quickly with the dialysis. People ask, like, how did you, like, pick that up? Or, like, you didn't have any choice. Like, it's your child's life. And so you're just like, that's the only thing you're worried about. Like, it's like just focusing on like what the doctors are telling you and what exactly your options are. And so I definitely knew it was serious right away. I had like a, I had a feeling when I went up there that night and he was back on the CPAP machine. I was like, something's not right. um and obviously like over the next days and weeks um we really kind of sat on the edge of like we didn't we didn't know what was going to happen so um it's very surreal going through that and like kind of like you know you walk outside grab something to drink or something like people are just operating you know with their normal lives and like your, you know, your son's fighting for his life.

9:46Did the doctors tell you what the worst outcomes could be? Yeah. We, when he was on, so that he was on the ventilator to give his body a break to have the machine breathe for him on all these different, you know, medications and IVs. They had come to us with the official, well, to take our genetic testing first. And they just kept saying, we just hope it's not CPS1. We just hope it's not CPS1 deficiency. And they finally came and said, you know, we're so sorry. It's a CPS1 deficiency. CPS1 is the first step of the urea cycle. And with how rare and how severe his mutation was, he, the whole, because he was missing the first step meant the entire urea cycle wasn't working.

10:45So they gave us the diagnosis and gave us a few minutes, a little bit of time to kind of process that. And then we had a family meeting with doctors, a few of the doctors, myself and Kyle, both of our moms, and they kind of gave us all of the options. How many options did you have at that point? We had continue. They wanted to initially start talking about comfort care, so end-of-life care. Hospice. We only know our experience. Yeah. You know, I can Google the numbers on the Internet, and they tell me that, you know, the mortality rate is very high and all that stuff. But, like, we just knew that, like, we had to give them an opportunity to fight.

11:40Yeah. When they brought this up, we kind of looked at each other. I was like, you know, I fought my entire pregnancy to get him here, to get him to a point where he was healthy enough to be born that I made it through. I was like, I don't want to make a decision right now because we don't know what it's going to look like. I said, you know, we fought to get him here because we love him. And out of love, we want to give him the opportunity to fight for himself. But we're also not selfish with that. So if it comes to a point where he has no fight left or he's suffering, then we can readdress this conversation.

12:27But I just don't think we were out of place at that point to make that decision so hastily without giving him the chance to fight to see what he could do. And I'm very thankful that we decided that. And we had the conversation. We didn't just agree to, you know, comfort care just because we didn't really know what it was going to look like for him. There's there's no good, you know, chart to see how viable of a life your child can live. We were under the we were under the assumption that we were going to be at the hospital until he got a liver transplant. And did they say that KJ was a good candidate for a liver transplant or give you any idea about how long that wait might be?

13:21We knew that we wanted him on the transplant list. But we also knew that in order for him to be safely transplanted, we had to get him to a certain weight. And he had to, there was different, like, qualifications for that. We also were entertaining the idea of live donors. So a lot of our family was tested to see if they would be a match for him. And unfortunately, we didn't find a perfect match for him with a living donor. But we were just waiting for him to get a little bigger so it was safer and also to find a liver that would be small enough to fit for him. Dr. Aaron's Nicholas, Dr. Rebecca, approached us with the idea of the research that she's been doing.

14:15And she approached Kyle first. I wasn't at bedside when they had the initial conversation. More of the path when we come back. Financial growth begins long before the first investment. It comes from understanding what you're building toward, what's at stake, and what success looks like for you. At Oppenheimer, we bring bold thinking guided by the full strength of our expertise to put capital to work building and protecting wealth that lasts generations. Put the power of Oppenheimer thinking to work for you. Wealth Management, Capital Markets, Investment Banking. At Venture Global, we think about what can be done, not what's usually done.

15:04Through innovation, Venture Global is not only building some of the largest energy facilities in the world right here in the United States, but delivering American energy at a fraction of the cost and a fraction of the time. So while others are busy talking, we're busy building. That's Venture Global. That's unstoppable energy. It's smart to always have a few financial goals. And a really smart one you can set? earning cash back on what you buy every day. And with Discover, you can. Get this. Discover automatically matches all the cash back you've earned at the end of your first year. Seriously, all of it.

15:46And we trust you to make smart decisions. After all, you listen to this show. See terms at discover.com slash credit card.

15:58Welcome back. I'm Becky Quick. Still, they look pretty good, meaning that our system is working, that we can grow neurons in a dish. KJ's doctors at CHOP, Rebecca Ahrens-Nicholas and Kiran Musunuru, used a method called base editing to replace the faulty letter in KJ's DNA. This could revolutionize the way we treat rare disorders for patients who have limited or no other options. So misspellings in the DNA can cause devastating diseases. With gene editing, we can correct those misspellings and hopefully definitively treat those diseases. Those doses are packaged as microscopic lipid or fat particles, and they're delivered through an IV.

16:36It all happens in the hopes of improving his tiny liver's ability to produce the CPS1 enzyme. We had practiced for many months or more than a year trying to figure out ways to find personalized gene editing solutions for every patient that walked in the door with a urea cycle disorder at CHOP. And through these dress rehearsals, we learned how to do this. and when we met KJ we felt like we were actually able and ready to try to do this for the first time in a patient what did you think when they brought up the idea of the gene therapy

17:11um to be honest I like it seemed uh kind of far-fetched um it's kind of stuff you hear about on like podcasts uh uh but it was very profound um dr arens nicholas was telling us these extraordinary things in the most humble way you expect when somebody walks in with their life's work and they're trying to explain to you like how they could possibly save your child but they don't sell you on anything they just kind of give it to you straight um the way she did it was just for me um like right away I kind of like had this feeling that there was something to it even though it seemed so far-fetched and I even stopped her because she would say things like well I don't want to get your hopes up and at one point I said Dr.

18:13Rebecca like my hopes are on many like if my if this thing goes sideways you know our whole world comes crashing down like That's on me to pick up the pieces. You just keep doing what you're doing and let us know. If this comes, we'll be ready. And there are risks. Yeah. Did you Google it right away? So he's the first. So we didn't have very much info to go off of for the type of gene editing that they were. But gene editing itself presents risks. And as a parent, when you Google that, you think, oh, gosh. Yeah. There's great potential, great risk. How do you figure out, is this the right choice for my child?

18:57I kind of talked with Kyle and then came back to the team and asked for a team meeting with every single doctor that works with Katie. So we had a liver team representative, so somebody that works in the liver transplant. We had genetics. We had research. Nursing. Nursing, nutrition. Any specialist that worked with KJ, we asked to be in on this meeting so we could ask all of the questions and get all information at one time. So the night prior to this meeting, I sat down and wrote all kinds of questions that I had, pros and cons, good and bad to all options. And then we sat and had this long meeting.

19:54And as they're talking, I'm just writing and Kyle's asking different things. and it was interesting because no one was trying to sell us either way, transplant, gene editing. We're a big baseball family. Me and Nicole were baseball managers. We'd be totally different. I would take the picture out in the seventh inning because I don't like the way he's wiping his eyebrow. And Nicole would look at every single analytic and be like, he's been through the rotation three times. We've got to take him out. when we made this decision i was very gut like my gut was telling me that this was the right thing thank god that we have nicole on our team who's like dotting every i and crossing every t but i just think when we sat down uh and we trusted the people around us and the way they the way they kind of operated around us made us trust them and uh we we decided we were going to do gene editing?

20:59Gene editing is complex. A lot of people hear it. They don't necessarily understand what it means. How'd you get your head around it? Do you have a way you think of it? So with the mutation that he has, if you think about it, like when you're writing a sentence, say you're typing a sentence on the computer and you misspell a word or you miss a word in the sentence, you go back, you backspace and kind of make that edit or make that change in the sentence and continue. So with his body just completely deleted the word. So the gene editing basically went into that sentence and input it, imported the missing gene into his sentence or into his liver in the urea cycle.

21:55That's essentially how that works. How many people, how many kids have CPS1 deficiencies? How common is it? KJ's mutation is one in 1.3 million. Yeah. So it's a small number of people who have this, of children who have this. do you think about why they chose you did they say why they chose you right place right time yeah really it's like all if you think about us ending up at Penn and him having what he has and us just so happening to live in one of the greatest pediatric care cities in the world um fate whatever you want to call it like it was meant to be. We were meant to be where we were when we were there.

22:52And I think we try to never forget that, right? You get to the dosing in February. What's it like the night before? What's it like the day of? And how do you talk about this with your other kids too? So with the other kids, we kind of, from the very beginning, explained to them, you know, that KJ was really sick. He was going to live at the hospital. We incorporated home to the hospital as much as possible. So his room was decorated like as close to what it would look like at home that we could. His siblings were constantly coming to visit. and the care teams did a very good job of incorporating his three siblings into his life at the hospital as much as possible so leading up to infusion day our oldest had an understanding of what that was and what that looked like and our three and five-year-old were just kind of like oh kj's getting a little procedure done today like they didn't really understand.

24:03Your oldest is 14. Yeah. So he obviously understood what was going on and that it was, you know, we didn't really know what was going to happen. But the actual infusion was about four hours. And it was us, his nurse, the two doctors that were doing the infusion, and then visitors in and out, different people from the hospital. It was a busy day. Was it a whirlwind? Yeah. Yeah, yeah. And I remember, like, being a nervous wreck. I'm like, we didn't sleep at the hospital the night before. We slept at home. And then, like, came down in the morning and kind of got there expecting us to be there. But everybody was already there.

24:54Yeah. and uh i remember the specifically the two chaplains that we dealt with that work for chop wonderful people um and i'm like a nervous wreck so i'm just like shooting off at the hip like i like like i walk in and they're there and i'm like who avoided the jesus stop um and uh and everybody laughed i was like trying to bring like some levity to it because it was definitely like a very tense situation um he talked non-stop me a tired song um i was very focused in on kj so that was he was asleep and when he would start to startle i mean it was like up next to him and And then at one point I just climbed into his crib and just laid with him.

25:50Did you notice anything or when did you first? I mean, you had two other infusions. When did you notice, hey, this might be a really good thing, might be helping? I think we knew more because of the numbers. Yeah. He would get tested sometimes daily and then sometimes weekly or, you know, for different things. When those tests would come up on the app on your phone, we'd be like, oh, my God, did you see like this number was this or this number was that? We kind of had learned how everything correlated. So as and then obviously, Dr. Rebecca would say to us like, hey, this number came back. This is a really good sign.

26:36so I think visibly you could see he was like getting older and putting weight on or whatever but we were really paying attention to the numbers of his dairy from his labs and as time was going on things were getting better we'll be right back hi I'm Jennifer Garner Being a business owner takes hard work and a whole lot of miles. So Once Upon a Farm needed a serious business card. We chose the Capital One VentureX Business Card. With unlimited double miles on every purchase, we earn rewards on all the things we need to grow our business. VentureX Business gives us big purchasing power so we can spend more and earn more.

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28:37When did they finally release him? Because there's some really great footage of him being released from the hospital. Oh, God. Wow. You look so smart, KJ. June 3rd. Yeah, June 3rd. So that was his 307th day in the hospital. And he was finally set free. He broke out a chop. Yeah, and we, so I am building the new hospital next door.

29:17And all the great people that I work with, like, came over. And some people from our neighborhood, some people from my union got together and got us a police escort home. And so when KJ walked out, there was a whole line of people, nurses, doctors, guys I work with, you know, clapping them out and then, you know, get the police escort home. And then we get home and like, you know, the news is at the house and all that. So. And I think it was just so surreal. you know we spent almost a year in the hospital and like become so accustomed to like juggling raising three children and having it you know having our fourth in the hospital you know trying to keep life as normal as possible for the three at home but then also being at the hospital as much as possible to make sure he was okay and he was you know get having our full attention to um I remember the first night home that KJ came home we were all just like sitting on the couch KJ was sleeping and I like went to pick up the phone to call the hospital and I'm like I don't have to do this like because every night before I would go to sleep the first thing I did when I woke up in the morning and the last thing I did before I went his sleep was to call and check in with the nurses.

30:48If one of us wasn't staying up there just to see how his night was going and how he was doing. And that was the first time I was like, Oh, I don't have to do this now. He's here. He's like very curious, but like, I can't imagine, you know, the first 10 months of your life, you, you're like, 95 % of it was spent in the same exact room. So then like he gets out and like looks up at the sky. Like, I would love to know what was going through his head. There must have been moments when you thought along the journey, I might lose my son.