Since you're a subscriber to this Bloomberg podcast, we thought you'd be interested in a six episode sponsored podcast called Targeting the Toughest Diseases, produced by Vertex Pharmaceuticals and Bloomberg Media Studios. It explores the innovative tools, methods, and unique philosophy Vertex Pharmaceuticals is using to search for treatments for some of humanity's most challenging diseases. Here's a recent episode.
Yeah, Well, I was getting ready to step on the field for the New York Jets for the first time in nineteen ninety three.
NFL quarterback Boomer Asiasin had just been traded to the Jets after ten incredibly successful seasons with the Cincinnati Bengals, a team where he'd wrapped up a Super Bowl appearance and an MVP Award. He was born and raised in New York, so it was exciting to play for one of his hometown teams. But then, just as he was about to walk into the field, he was called back.
The head coach's secretary came out onto the field and said, your wife is on the phone. You need to take the phone call. So I took the phone call.
It was Boomer's wife, Cheryl, who was back in Cincinnati with their son, Gunner.
Cheryl told me I needed to get back to Cincinnati, that Gunner was in Cincinnati Children's Hospital and he was having trouble breathing.
Boomer grabbed the next flight to Cincinnati, then went straight from the airport to the hospital.
Seeing a two year old Gunner laying in a crib hooked up to all sorts of different machines receiving antibiotics, was on oxygen, and really wasn't sure what to think.
The doctor came into the room and told Boomer and Cheryl that their little boy had cystic fibrosis.
That day will live with me forever as one of the saddest days of my life.
Hi. I'm Jordan Gospore. I'm a member of the University of Southern California's Center for Health Journalism. This is Targeting the Toughest Diseases a podcast produced by Bloomberg Media Studios and Vertex Pharmaceuticals. In this series, we look at some of humanity's most challenging diseases and how Vertex, a Boston based biotech company, is using innovative tools, methods, and a
unique philosophy to search for treatments and cures. Today we're looking at cystic fibrosis, also known as CF, a rare chronic genetic disease affecting the lungs and other organs. It can lead to all sorts of complications, including lung disease, liver disease, diabetes, and even premature death. It affects about thirty thousand Americans and more than eighty thousand people globally, making it a disease not a lot of people know about, but it was not new to Boomeris Siasin.
Here's the really weird part of this, and maybe the destiny and irony part of all of this. Back in nineteen eighty nine, I was receiving award as the best quarterback in the NFL, and at that awards banquet, there was a speaker that night because there was a fundraising attachment to that banquet, and his name was Frank DeFord.
DeFord was a legendary writer at Sports Illustrated, but he was also a CF dad.
Frank spoke so eloquently about how he lost his daughter Alex to the disease of cystic fibrosis, which I had never heard of. She was eight years old, and everybody was captured by his story. That night. I was very captured. I was crying.
Bumeris Iyasin was twenty seven at the time, with no kids of his own. He was living a great life as an NFL quarterback, but something in that speech touched him deeply. He asked to Ford how he could help.
And he said, well, if you go back to Cincinnati and you can get involved in some of the fundraising aspects of cystic fibrosis a face on it, if you will, and then maybe visit some of the kids at Children's Hospital, that would really be helpful.
And that's exactly what he did. He used his celebrity status to help raise awareness and funds for cystic fibrosis, and he visited kids in the hospital who were sick. Now, his son, Gunner had this same terrible disease. We all have mucus that lines her lungs and our airways. This mucus has an important job. It captures dust and germs in the air we breathe. When mucus traps those germs in dust, tiny little hairs on the outside of our
cells called cilia push all that mucus out of our lungs. Normally, this mucus is slippery and watery, but for people with cystic fibrosis, this mucus is sticky and thick. As a result, the cilia can't push the mucus out and it ends up blocking lung passages, making it hard to breathe. Also, germs and bacteria get trapped in a person's airways, making them more prone to infections. Clearing the mucus could be a daily task for people with CF. There are medications
that help fin it. Some patients use a vibrating vest to literally shake the mucus out of their airways. Others may have to visit the hospital periodically for a cleanout. And because the mucus can also block the ducks to the pancreas, many people with CF may struggle to absorb nutrients efficiently. Solving that can require periodic IV treatments or taking enzymes to help break down food for absorption. IV treatments are also used to fight frequent infections and lungs
that come about in many people with CF. It's a demanding regiment, something Gunner Asiasin had to confront when he was still very young.
My dad, who was driving the car just looked at me while we were driving and said, this isn't gonna hurt. And for the entire rest of the car ride, he continued to say, this isn't gonna hurt, This isn't gonna hurt, this isn't gonna hurt, as if he was reassuring me about something they weren't telling me about.
Everything was fine until the moment Gunner realized the antibiotic treatment he was getting for a CF related infection involved needles.
I looked at my dad's grinding at I said, you lied to me, and I ran out the door, down the hallway and into the lobby of Cincinnati Children's Hospital. So, if you can picture the scenario, there's my dad, the starting quarterback of the Cincinni Bengals at the time, chasing his belligerent child, and he finally comes up to me and he's like, quiet, please be quiet, you're making a scene. I will do whatever you want if you go back into that room with me.
Eventually, after a lot of persuasion, Boomer agreed to buy Gunner a video game console if he would go and get the treatment.
So we walked back into interventual raiology and they scrapped me down to the table, and I cried and screamed to the entire thing. But you better believe that I got my Nintendo at the end of that possible visit.
In college, Gunner reached a turning point with how he coexisted with the disease.
My senior year was a real slog like I went through, like several bounds of pneumonia. I knew that I was at a point in my life where I had no other options.
That uncertainty, having big questions about the future is one of the hardest parts of living with CF. Cystic fibrosis is genetic. Our genes give our cells instructions on how to produce certain proteins. They tell the cells in our lungs, pancreas, or sweat glands to make a special protein called cystic fibrosis transmembrane conductance regulator or CFTR for short. This CFTR protein is sent to the surface of a cell. Here, it acts like little channels between the inside and the
outside of a cell. These channels open and close, and this allows particles like chloride ions to move in or out of a cell, and those chloride ions help a cell maintain a healthy balance of salt and water. But for people with CF, a mutation causes the gene to give faulty instructions to the body. Those proteins, those little channels don't work right. This means water and salt can't flow freely in and out of a cell like they should.
When that chloride gets trapped in a cell, it doesn't have the fluids it needs to hydrate its surface properly. Without those fluids, mucus becomes dehydrated, and that's what causes it to be thick and sticky. Doctor Chinadou Nikuoro is a pediatrician in London. He has spent decades researching the condition and says we've known about CF since ancient times.
If you go back to European proverbs, you may have heard there was a saying, woe to that child which, when kissed on the forehead, tastes salty. He is bewitched and soon must die.
Salty skin is a symptom because people with cystic fibrosis have two to five times the normal amount of salt in their sweat.
And these old grandmothers in northern Germany were describing children with cystic fibrosis.
The genetic mutation that causes CF survived because it provides its carriers with some extra immunity.
Having one copy of the cistic vibrosius mutation seems to protect against diarrehal diseases like cholera and typho. That would have meant that people who were carriers of that gene would be more likely to survive plagues of cholera and typhoid, where people who didn't have any copies would have been more likely to succumb.
It was nineteen thirty eight that the disease was named and made it into medical literature. It was discovered in children who had died of malnutrition.
The US pathologist Dorothy Anderson found that their pangresses were damaged through being bummed up by sticky secretions, and they were cystic and fibrotic, and that was the name given to the disease.
Doctor Niicuro says life expectancy for children living with CF has been extended, thanks in large part to newborn screening and improve treatments, but he is hopeful that treatments will not just extend life for patients living with the disease, it will improve their quality of life as well.
What I hope that will lead to is a reduction in the need for the kind of intense therapy, both in terms of antibiotics, hospital admissions and in the even physiotherapy that has been characteris consistent fibrousus care over the years.
Coming up with therapies that can both prolong and improve life is a pretty tall order, but it's a passion for doctor David Altschuler, chief Scientific Officer at Vertex Pharmaceuticals. As a physician and a researcher, he spent the last thirty five years of his career scouring our DNA code for clues about some of the world's toughest diseases.
So the first thing we do is we look for diseases with great unmet need, where the disease is very serious and people's lives are impacted and there's nothing that really is is transformational, that can really change their lives, and cystic fibrosis certainly was that. The second was we look for a case where the underlying human biology, the underlying cause of the disease is known, and again in CF,
the cystic fibrosis gene mutation was known. What was missing was therapeutics that could do what needed to be done, which is, in this case, restore CF function. And that's kind of thing that really gets our scientists and doctors fired up, and so they worked on it for twenty years to get where we are today.
Can you speak a little bit more about how you and Vertex are tackling cystic fibrosis.
So the work that Vertex has done in CF really goes back decades ran in families, but until nineteen eighty nine when that gene was cloned, no one actually knew what caused the disease.
That changed with the discovery of CFTR.
But then the question was could you repair it? And for a period of decades that seemed impossible. People tried lots of different things and couldn't figure it out. But twenty years or more ago, scientists at Vertex had an idea. They had an idea of how to use chemicals to coax the CFTR protein that's not working to function again.
That's what Vertex has been working on for the last twenty years and now has approved medicines with the potential to treat up to ninety percent of all people with CF, and they're not done yet.
The things that keeps us working hard on this problem is that less than ten percent don't make any of the protein.
The way current therapies work is to coax the protein that has an inherited mutation to function again. But some people don't make any protein, so a different approach is needed, and.
So we have research ongoing in our laboratories and with a number of partners, are working hard for the last ten percent. We're still very much in the CF story. We still have a long way to go till we reach our goal.
For people with CF, like Gunner as siasin things that once felt unimaginable now seem possible, like returning to school to see old friends.
I had my five year college reunion, and most people remember me from my college a's at my last year or two, being very very sick, like always missing things, missing social activities, missing class, missing things like that. Yeah, here we are at the reunion and it's like the chance to go back to college, right, you know, We're staying out late, and next thing you know, I'm up every morning at like six point thirty getting breakfast for everyone.
And my friends were like, what is going on with you?
But as great as the weekend was The drive home with his girlfriend was even more impactful.
We were stuck into New Jersey Turnpike and she looked at me and she was like, do you realize what we did this weekend? We went away and we're able to do something. What do you want to do next with your life? And I paused for a moment. It hadn't occurred to me that I could do something with my life. I didn't have to live at home anymore.
What they decided to do next was get married.
I've never been at a wedding where everybody, I mean all two hundred and fifty people just came together as one group and we're crying and we're laughing and we're cheering, and it was like the greatest moment of all of our lives.
Going back to school, getting married, those experiences are possible because of one thing. Hope. Well.
I don't know how much of a football fan you are, but when you play for the Jets, Cardinals and Bengals, it's all about hope. You need as much hope as you possibly can get.
You know. I think for me, I mean honestly, I hope is going to define the rest of my career. When I was going through the worst today, I had a little quote on my desk and it was a Wizard Churchill quote and it was something like, if you're going through hell, keep going. And that meant a lot to me back then.
This is Targeting the Toughest Diseases a podcast from Bloomberg Media Studios and Vertex Pharmaceuticals. If you like what you hear, subscribe and leave us a review. I'm Jordan Gosfore. Thanks for listening.