Bonus: The Path with Becky Quick: A Father’s Rare Determination 7/2/26

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0:35Every day was a borrowed day for our kids. What are we going to do? It's that sense of desperation. Like, if I don't do this, nobody will. Desperation, fear, determination.

0:51I'm Becky Quick. Welcome to The Path from CNBC Cures, a podcast series about the people, The struggles, the science of rare disease, and the determination to do something about it. I'm a mom of a child with a rare genetic disease. Happy birthday to me. My nine-year-old daughter, Kaylee, has a condition that's called Syngap-1. She's part of a small patient group. There are only about 1 ,700 other people in the world with this diagnosis. Essentially, she only produces half of the SYNGAP protein that's needed for brain development. That means that she has seizures, developmental delays, and intellectual disabilities.

1:33But what Kaylee doesn't lack is courage. Go!

1:44Or determination. Recently, Kaylee went a little further into the world with a little less of a safety net. Swim, baby! Swimming on her own at our local pool without a swim belt for the very first time. Kaylee, you can do it. And she did great. She went for it. She jumped right in, her feet touched the bottom, she popped right back up. Kaylee, I'm so proud of you. And then she swam from one end of the pool to the other. Yay for Kaylee! On her own power, determined to do it on her own. That moment was a breakthrough for Kaylee, but it took so much work for her to get there.

2:28We were, we are, so proud.

2:37My guest today is the father of not one, but two children with a rare disease. He knows a lot about transformations that seem sudden but have extraordinary work and raw courage behind them. John Crowley took the shocking news that his two small children, one just a newborn, had fatal diseases. He changed his entire life and he made a breakthrough so incredible that it became a Hollywood movie. And what was amazing to me was that I had met John Crowley 10 years ago. And welcome back to Squawk Box here on CNBC, first in business worldwide. Now let's bring in John Crowley. He's the CEO of Amicus Therapeutics, which focuses on rare diseases.

3:20John, it's good to see you on set. Great, great to be here. He was a guest on Squawk Box in the summer of 2016. I was there, I was pregnant with Kaylee, and I had no idea that I was about to join the rare disease path that John had been on for so long. John, first of all, what is Pompeii disease and how are your kids? Sure. So Pompe disease is a rare neuromuscular disease. In fact, I had no memory of that segment of even meeting him until it was pointed out to me while we were planning for this interview. What you're talking about is incredibly noble. I laud it. But what generally happens with smaller companies is that, you know, one of these big pharmaceutical companies will wait until you have a hit and then try and buy the company.

4:00Your market capitalization is under a billion dollars. How do you prevent that from happening? Keep focusing on building an independent, fully integrated biotech company where, you're right, we're in that unique space now, Becky, where we have an approved drug, but we're also working on a terrific pipeline. Tells you a little bit about how life can change and how quickly. Good. Is that out of your shot? Do you guys need the... I'll do it for you. Take one. Ready? There we go. I'm John Crowley. I'm the president and CEO of BIO, the biotechnology innovation organization. We are the world's largest organization advocating for and developing policies to promote biotechnology, hopes, cures.

4:44Why don't we go back to the beginning, back to the 1990s? You are working and you've got a family. And all of a sudden you find out that Megan and Patrick, your two young children, you get this devastating diagnosis. Well, it's something you don't expect. And I just finished graduate school, grew up in New Jersey. My dad was a cop here in North Jersey and kind of have your plan in life. And we had our second and third children very quickly. And it was by about a year of age that we noticed Megan wasn't pulling up in the crib, wasn't taking those first steps. Incredibly bright little baby. And so you go from pediatrician to pediatrician to neurologist, from blood test to scan to deep muscle biopsy.

5:26And it was in March of 1998, Friday the 13th, we got the diagnosis that Megan had this rare form of muscular dystrophy. And honestly, Becky, to that point, our greatest fear was that we would be told she may never walk. And when the doctor told us about this rare disease that we'd never heard of, there's no history in our family, one of now 10 ,000 known rare diseases. I asked him, what can we do? And he, you know, looked at us and just said, I'm sorry, there's nothing you can do. Enjoy the time you have. Megan is going to get very sick very soon and probably won't live to be a couple of years old.

6:06And then he looked down on the car carrier where we had our seven-day-old son, Patrick, and said there was a 25 % chance that he may have the disease and needed to be tested, which we did very quickly and found out his diagnosis. So it was pretty devastating very early on. But even in those first hours, couple of days, we go through a lot of emotions, the grief, the fear, the anxiety, and settled really on determination, determined to learn everything we could about this rare disease, devastating disease, fatal disease, and then very quickly determined to find anybody who could offer any hope.

6:42You're looking at your 15-month-old daughter and your seven-day-old son and thinking, I have probably months left, maybe years if I'm lucky. That's got to be pretty devastating. Yeah, I remember, Becky, the ride back from, we were living in California for a brief time, and that's where we got the diagnosis at Oakland Children's Hospital. we're living in a town called Walnut Creek and so it's about a half hour drive back on a cold rainy day and I remember Eileen and I were just silent in the car we only had Patrick with us and I remember just trying to keep the strength on that car ride my mind racing thinking what are we going to do who can I call and I remember walking in the house and candidly not having the strength to even look at Megan and just went in the room for about an hour and just thought, what are we going to do?

7:41Who did you call?

7:47Called my father-in-law, Marty, who was back east. Called my mom. Called a couple of close friends.

7:58Called one of my mentors who was a Catholic priest, so probably five calls that afternoon, that evening. And really late that night, I actually went to the airport picked up my father-in-law. I was on a late night flight, got right on a plane to come out to California, picked him up at SFO. And then early the next morning, I went to the library. Google didn't even exist. I went to the library. It was, I think, Netscape Navigator. And I found a little bit of hope that night of some researchers at Duke University. I went to the library and found out what I could. And Monday morning, started calling those couple of researchers around the world, starting in Rotterdam in the Netherlands and then all the way to Duke University to introduce myself, say, I have two children, we have two children with this disease, can I come see you?

8:46So you started that journey of advocacy almost immediately. I started the journey of education immediately and then connections, relationship building, and then, yes, and again, all of it within days, weeks of advocacy, Advocating first for our children alone, not even knowing how many kids were out there with this, starting to connect with a couple of families, and then slowly becoming the advocate for many families. But it was not like one day we woke up and said, okay, we're going to build a foundation and we're going to get a website and we're going to be patient. I didn't even know what patient advocacy was.

9:26It just, I think as a parent, it just kind of came naturally. And it does for millions of parents. Yes. It's that sense of desperation. Like, if I don't do this, nobody will. Desperation, fear, determination. They told you that your 15-month-old daughter might not live to see two years. I mean, the countdown and the months and the clocks, how did you find that determination? It was, you realize you have two challenges, and we often, we all do, when facing a health crisis. and one is to address the challenge of biology, whatever the medical problem is, and the other is the challenge of time, the race against the clock.

10:07And it's kind of the irony of this, right, because what we're trying to fight for is time, time for our children, time with the people they love, give them as long and healthy and happy a life as possible. And so for us, there was this great sense of urgency that launched us into this whole world. Did you ever worry that... Yes. Whatever your next question is. But did you worry that, oh, my gosh, I'm spending the time, the last moments I might have with her? You know, in that first year from the diagnosis, Megan did get very sick very, very quickly, almost died in the hospital. But she was tough back then.

10:41Even at 20 months old, her heart stopped three times and had to be intubated. And we just, in some ways, we thought over those couple of days nature would just take its course. but she didn't want to give up. I remember looking in her eyes in the intensive care unit that she wanted to fight. And so we said we'd fight too. And so, and a couple of months later, we went through it again with Patrick. So in the course of a year, you go from two seemingly healthy children to two children in wheelchairs, on ventilators, nursing care, and we're trying to patch it together. And our nights and weekends are consumed with reading medical papers and science papers and going to conferences and trying to get people involved in research.

11:22Until, you know, about another year later in the spring of 2000, I had found a handful of researchers, one of whom had a technology that he thought very, very early that could apply. And I, we had, Eileen and I, my wife had a long talk about, you know, the kids' lives may be very short. Do I want to miss what time we may have? And we just, I think more than anything, we didn't want to have any regrets. I didn't want to look back years later and wished we had done something more. What is Pompe disease exactly? How does it manifest? The children are missing an enzyme that, you know, you and I without the disease, all of us without the disease, we make this enzyme.

12:00It breaks down sugar stored in the form of glycogen in a particular part of the muscle cell. It affects skeletal muscle. It affects heart muscle, breathing muscles, swallowing muscles. And that's why it can be so devastating. And it can be diagnosed as early as infancy, all the way to there are, you know, more attenuated forms of the disease that can be diagnosed in adolescence or adulthood. But in almost every case, particularly with children, without intervention, it's 100 % fatal. There was not much that they could do originally when you got this diagnosis. What could they do to try and keep it at bay?

12:36There was nothing they could do to keep the disease, the relentless progression of the disease without that enzyme, with the sugar, the glycogen building up in the muscle, slowly destroying the muscle. Megan and Patrick's heart, by a year and a half of age or so, the left side of their heart that does the pumping, majority of the pumping, it was three times normal size. And that's what would have been the most fatal part for them. So we knew we had to develop a medicine that could intervene first in the heart, and then hopefully breathing muscles and skeletal muscles to make them stronger. And the goal was with the technology at the time, the only possible answer would be to develop a lab-based, lab-made enzyme that could replace their natural enzyme.

13:18So you went to Georgetown for undergraduate. You went to Notre Dame for your law degree. You went to Harvard for your MBA. I had a lot of student loans, yes. You had a lot of student loans and a lot of knowledge, but you were not somebody who was steeped in medical research. No, I was terrible in science. It's not where my interest lied. And what you find is, you know, you've got to learn it. You've got to learn it as a parent so you can advocate for your children to find the right doctors, to think about other ideas. And that's what's, you know, I think in many ways so rewarding for so many families is that there is so much knowledge out there now.

13:57And for us to be able to learn as best I could science. And then when I eventually started a biotech company with that researcher, I thought, you know, I had the MBA. I'll do the business plan and figure a way to raise money and build spreadsheets. They'll do the science. And I realized in about two days, you can't do that unless I understood the science. So from the scientific founder to our researchers to graduate students I hired at night when I was out in Oklahoma City, where the first company was founded, I had to learn biology, biochemistry, genetics. And that's what kind of blows me away, the idea of putting this together as a parent who's juggling everything else.

14:36The role of that parent advocate, there's nothing that can replace that. There's nothing stronger. No, there's nothing stronger. And we've seen it now over and over again over the years that we've been involved, Becky, where the whole notion of hope is driven in these childhood rare diseases by parents and in the adult rare diseases by the person living with the disease, their family members, their spouse, whatever it is. And that's what makes this such a strong community. We'll be right back after this. Planning for the future? State Farm Life Insurance can help protect those you love. With flexible coverage, options for your budget, and the ability to adjust your policy as needs change, State Farm can help you live more confidently.

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16:58Welcome back to The Path. I'm Becky Quick. Bio's CEO John Crowley's journey of building something life-saving for his children from nothing but a stunning and stark diagnosis inspired a 2010 movie about his family's story. Extraordinary Measures starred Brendan Fraser. The unrelenting efforts of a man called John Crowley, who does live and breathe and walk the earth, and he's one of the most principled individuals I've ever met. I'm honored to have played him. and Harrison Ford as a composite character, representing the early doctors that John worked with to find a cure for Megan and Patrick. I think it was a wonderful, positive story about somebody who took control of the adversity in his life and made a difference.

17:40He was able to create a therapy for his kids who have a difficult genetic disease called Pompeii. John Crowley is a seasoned biotech executive now, but he didn't start that way in the late 1990s. Let's talk a little bit about how you started that journey. You went to work for a pharmaceutical company almost immediately? I was a consultant at a business school for a little bit, and then I worked at Bristol-Myers Squibb. So how did you come together to think, okay, I can actually pull this off. I can create a new company because nobody else is going to do this. I never thought I could pull it off, but at some point I thought I had to do it, And it was about two years into this journey with Megan and Patrick, about two years into my role.

18:25I worked in marketing at BMS, incredible company, wonderful mission to extend and enhance human life. But I never went there to learn the business so I can go start my own company. I went there because it was a good job. It was close to family back here in New Jersey. It was great health insurance. And again, it was my nights and weekends consumed. and about two years into that journey, finding a brilliant scientist in Oklahoma who had an idea for how to make a medicine, who realized that he couldn't do it in the context of a university. It had to be a startup biotech company and we needed a lot more money.

18:59Tried to find him a CEO and with a handful of people based in Oklahoma, very early stage and no money, we realized one night on a phone call the best we could do was me at 31 years old or so. And that was tough. That was a tough decision as well to quit that job, that security. But again, I kind of come back to we just didn't want to have any regrets. And so in some ways, we had everything to lose. And in some ways, we had nothing to lose. What was the moment that you said, okay, we're going to do this? And what was the conversation you and Aileen had? Because that security you were getting for your job, you had three children, two of whom had this terrible disease.

19:39And an older one with high-functioning autism. Right. So that is a leap of faith. I remember it well. I was on the phone with a researcher in Oklahoma. We were both frustrated. He couldn't find a CEO. And I said to him almost half-jokingly, I said, heck, Bill, maybe I should come out there and run it for you. It was this kind of awkward pause. And he said, could you come out tomorrow? What was it like trying to find the funds to keep everything afloat while launching this new company? Oh, it was on a shoestring. It was out in Oklahoma City. The doctor had raised tens of thousands of dollars. And we knew that we were going to do an angel round.

20:17So we had the memorandum put together. I think the original minimum investment was$250 ,000. We were seeking a million dollars. I only needed four people, relatively small amount of money. Put the business plan together. And in the meantime, we were running low on cash. Needed to find other ways. I think that the doctor took out cash advances on his credit cards. I took cash advances on ours. We took a home equity loan to provide some of the funding. And now in my career in biotech, Becky, I've raised well over$2 billion for biotech companies. The hardest money I raised actually wasn't the home equity loan or the cash advances.

20:51They were painful, but they weren't hard. The hardest was that angel round. It took us about six months. For a million dollars? for a million dollars. I had to lower the minimum investment from$250 ,000 to$5 ,000, and it took 37 individuals. So that was the hardest I ever had to work for capital for a biotech company. And I've always remembered that, even in my role now, that that's kind of the heart and soul of how we make medicines in this country, knowing that about 70 % of all medicines come out of academic research, start with startup biotech companies. I didn't know where to realize that everything that it took in the ecosystem back then.

21:32We were just passionate, desperate, we're young, and that's kind of how we set about, and then eventually brought in some small amounts of venture capital. The doctor and the plan that he had, what was the mechanism that he thought would work on Pompeii? We knew what we needed to do was to make an enzyme to replace the defective or missing enzyme for Megan and Patrick and for thousands of others. So that we would create in human host cells, we would create the enzyme. So genetic engineering, recombinant protein engineering. And in Pompeii, it's special too. You not only need to make the missing protein in the labs, you need to make sure it can get into the muscles.

22:10And to do that, you need to make sure it has these carbohydrates. So if you think of this as the protein attached to it or the carbohydrates, kind of the lock and the key. And that was the most difficult part. And that was the brilliance of the science that he had, not only making the protein, but making the right key for the lock. But I make it sound somewhat easy. It was unbelievably difficult, just the core science. And then even beyond the core science, we realized we needed to manufacture this for clinical studies. And that's an art and a science in its own right. The capabilities, the capacity to do that.

22:47we realized we needed a lot more money, we needed more expertise, and we also realized that the drumbeat of time was continuing. And every time there was a setback, every time somebody told me, oh, the experiment didn't go well, we need another 60 days, or it's going to take six months to find a contractor to make it, when I'd come back on Thursday night or Friday, I could see the kids were just a little bit weaker. That was hard. but that was the the pressure and time is the enemy time was the enemy and that's when the genzyme deal came about it was we we had two term sheets and and this all happened very fast back at hbs they wrote a case study on it called a father's love and it's our choice we could do a large partnership with chinentech they'd purchase 20 of the company fund our programs we could go public on that, or Henry Tremere, the visionary leader of Genzyme, we could be acquired by Genzyme.

23:45And there's pros and cons to each of those. And my recommendation to our board at the time was that we be acquired. Because? Because Genzyme was the expert in the field, in this class of rare diseases. They had more capabilities than any company in the world. And because of Henry. For Henry, he had the passion, he had the vision. And for him, it would become the most important and expensive program in GenScience history, which it did become. They spent how much to acquire the company? Just over$100 million to acquire our little company. So our angel investors did very well inside of a year and a half.