Skip to main content

Features

Surprise reprieve

A breakthrough drug extends life expectancy for cystic fibrosis but also highlights the burdens of a chronic illness

Surprise reprieve

Louis & Joanie Santander (Photo courtesy Joanie Santander and family)

Last fall Joanie Santander, 27, was sitting in an ICU in Emory University Hospital next to her younger brother Louis Hebert, 25, who was in a medically induced coma after receiving a double-lung transplant. She was on duty to keep him from trying to pull out the tubes in his chest if he unconsciously stirred.

Santander scrolled through her phone and read a press release saying the Food and Drug Administration (FDA) had approved a breakthrough drug, Trikafta, that would, perhaps, have prevented her brother from needing a lung transplant and all the risks that came with it.

Trikafta targets cystic fibrosis (CF), a deadly genetic disease that fills lungs and other organs with a thick, damaging mucus. Patients have differing symptoms and severity, but some describe waking up every day with a tight chest, feeling like they are drowning in mucus. They have a constant cough. CF can damage the pancreas, which affects digestion, so patients can’t absorb nutrients and may develop diabetes. The deluge of mucus makes them vulnerable to lung infections. Some patients cough up blood.

Approved in October, Trikafta fixes the malfunctioning protein that causes cystic fibrosis, and the big victory is that 90 percent of CF patients can use it. (The other 10 percent have a different genetic mutation.) Since its approval, doctors have been telling CF patients, whose life expectancy had been about 37 years, to start opening 401(k) plans. That’s been an enormous blessing to CF patients, but it also leaves some dealing with emotions built up over years of living without expecting to reach middle age.

Photo courtesy Joanie Santander and family

Louis takes his second “first breath.” (Photo courtesy Joanie Santander and family)

Santander and her brother both have cystic fibrosis. Her brother’s is more severe, which is why he had to get the lung transplant. Over their young lifespans, she estimates that he has been in the hospital 100 times, while she has been in 30 times. As Santander read the news, she was overwhelmed thinking about how she was going to live longer, and how perhaps her brother had been “robbed of that,” that his body might reject his new lungs, that he might not be able ever to take Trikafta. If only the drug had come sooner.

At that moment, “I didn’t have my brother to relate to, and he’s always my person I’ve related to,” said Santander. 

Joanie and Louis’ parents made the decision when they were little that the two could stay around each other. CF patients normally must remain apart, especially during a flare-up, because they have their own bacterial colonies in the lungs that could prove deadly to another CF patient. At fundraising galas for CF, organizers will usually designate one person with CF to attend, since multiple patients can’t be in the same room together. Thankfully, Santander didn’t get really sick with lung infections until college, so she didn’t give infections to her brother.

Photo courtesy Joanie Santander and family

Joanie reads to her brother in the ICU. (Photo courtesy Joanie Santander and family)

Still, doctors had told Santander when she was 26 that she probably wasn’t going to have more than five good years left. 

Santander had told her parents about the Trikafta breakthrough while her brother was in the ICU. They reacted like “zombies,” she said, because they were focused on her brother. When Louis finally left the ICU, the reality of the new drug began to set in for Santander and her parents: “I said, ‘Guys, this means I’m going to live. There’s not an expiration date on me anymore.’” Then her parents responded: “Oh, thank the Lord.”

Santander’s brother Louis made it out of the ICU, and when we talked, she said he is “136 breathed days old now for his second breath.” The first year after a transplant is a fragile time, and the family isn’t sure whether he’ll be able to take Trikafta.

THE DRUG IS NOT A CURE, but every day that CF patients are on Trikafta keeps their cells working better, and it helps patients stay out of the hospital with lung infections. Patients take three pills a day, theoretically for the rest of their lives or until a cure appears.

Without the drug, patients’ malfunctioning proteins return to their cystic fibrosis status quo. Trikafta can’t heal lung damage or existing bacterial infections, which is why the earlier patients get on it, the better. It’s currently approved for CF patients over the age of 12.

Jessica Streib, 43, in Woodstock, Ga., started taking Trikafta in February, but still has to do a battery of other daily treatments, starting at about 6 a.m. For half an hour morning and evening she sits in a vest that shakes her chest to loosen mucus, and then half an hour morning and evening she inhales nebulizer treatments. She also exercises for 30 minutes every morning, which helps her lungs stay healthy and clearer.

Before Trikafta, she was living on essentially one lung. In April, she will find out how much the drug has officially improved her lung capacity, but she can feel its effects after just a few weeks. She used to have to stop halfway up the stairs at work at a medical equipment company. Now she can walk all the way up without being winded.

Her parents in particular are thrilled about the new drug: “It’s something they were praying for since I was born,” said Streib.

Dave Streib

Jessica Streib (Dave Streib)

Streib has felt God’s protection from “Day One,” she says. She was born early with obstructed intestines—a life-threatening condition that babies with CF often have—and she had intestinal surgery at 3 days old. She says she would have been born dead if she had arrived on her due date. Doctors told her parents that she had a 50 percent chance of making it to age 8, and then a 50 percent chance of making it to 16. She grew up on a stew of enzyme pills to help with digestion and was in and out of the hospital with pneumonia.

“All the meds I’m on now were not around when I was born,” she said. Life expectancy for CF crept up as she grew older. When she was dating her husband in college, she was nervous to tell him she had CF, but he responded: “I will learn as much as I can about it. I’m not going anywhere.” 

They married, and both accepted not having children because of the complications that would arise with a pregnancy. They ended up adopting a 10-year-old from their extended family when she needed a home: “We felt that God was calling us to do that.”

She’s not sure how Trikafta will affect her life expectancy: “I’m thankful for every day I’m given, and we roll with it.”

Life expectancy for CF has doubled over the last 30 years, and 30,000 people in the United States now live with the disease. Over and over in interviews, patients praised the Cystic Fibrosis Foundation. A group of parents started the foundation in the 1950s, when the disease usually meant a child would die before graduating from high school. Since then the foundation has given hundreds of millions of dollars to research, funding most of the breakthrough drugs. The organization makes sure “the drugs coming down the pipeline come to the patients,” said Streib.

IN NOVEMBER IN JERSEY CITY, N.J., Kathleen Jones, who has CF, performed a one-person play she wrote titled Everybody in This Play Is Dying! She thought it was funny; some others did not. But she has lived on the razor’s edge, as a 29-year-old who was given a life expectancy of 19 when she was diagnosed as a child. When she and her husband got married, they moved close to Columbia University Hospital in New York City because it has good CF treatment and a transplant center if her lungs deteriorated.

The play is a monologue on her life, on whether Jesus still heals people, and on recently starting the drug Trikafta.

In the script she says to the audience: “I know there’s at least a few of you who don’t believe that God can heal, and you’re feeling guilty listening to this whole thing, thinking, Honey, He’s not going to heal you. You have this disease for life.” She pauses, then says: “God, in the name of Jesus, I want You to physically heal, right now, in this moment, Your least favorite person in the room tonight. Whoever irritates You the most, causes You the most stress and aggravation. You know who they are. Heal them in the name of Jesus.”

Matthew Williamson

Kathleen Jones (Matthew Williamson)

She waits a beat before saying to the audience: “Wouldn’t that be hilarious if He healed me right now?”

Since the play, when she was just starting Trikafta, Jones’ lung function has gone up 20 percent. She now has a full-time job as a bookkeeper, which she never thought would be possible. She opened a Roth IRA, which she is proud of even though it only has some paltry dollars from nannying.

As we talked, she was taking her morning dose of Trikafta. She first heard about the drug being in development about a decade ago and remembers crying and wishing she didn’t know about the possibility of the drug, because she knew it would take years and years of development.

“It still kind of blows my mind to think now, I’ll be alive in such a way, not crippled,” she said. But she also knows that she is daily dependent on the drug, and complications could develop that kick her off the drug. “I feel like I’m on vacation from CF. But one thing that I didn’t expect is … constant fear that it’s going to come back.”

She hears about someone with liver problems who has to come off Trikafta, and imagines that happening to her. Jones has been going to therapy. “It’s like, I’m home from the war, and I can deal with all the fear.”

HEALING GIVE PATIENTS mental space for the pent-up emotional and psychological problems to come rushing in. Many have dealt with near-death experiences at a young age, friends who have died from the disease, and the prospect of deteriorating health.

“You grow up staring down that barrel,” said Robert, 32, whose full name we are not using to protect sensitive medical information. He has CF and has struggled with severe depression since he was a child, as well as substance abuse from his teens into adulthood. “Death is scarier when you’re right up close to it.”

At 22, he almost died when one of his lungs collapsed, and he spent weeks in the hospital with a chest tube draining out blood and other fluids from his lung. At 25 he started smoking and returned to drugs, not great for already sensitive lungs: “I was just super unhappy. … What I really wanted to do when it was bad, was to not exist.”

Studies have shown that as CF patients live longer they deal with a burden of psychological issues and are at a greater risk for depression.

Only when Robert got on a gene modulator (Kalydeco, a precursor to Trikafta) did he begin to address his substance abuse issues and depression. He’s now in Alcoholics Anonymous, has quit smoking, and hasn’t had a depressive episode in a while. “Seeing a big jump in my quality of life made me believe I could get better,” Robert said. He recalled being able suddenly to run and not be out of breath. “That felt like a magical miracle.”

The effect has been similar for Joanie Santander. Santander began taking Trikafta in December, as her brother was recovering from his double-lung transplant. She has had side effects: high liver enzymes, and less dexterity. She and her husband had talked about having children, but haven’t conceived yet, and she wonders if the drug affects fertility.

But she has lost her cough, and her lung function is now the highest it’s been in a decade.

Taking the drug, she says, “is like giving time back to us.”

On the fast track

Though Joanie Santander wished the drug had come earlier for her brother, the breakthrough drug approval came earlier than anyone anticipated, even Vertex, the drug developer. The last few years, the FDA has been fast-tracking more drugs for life-threatening conditions, according to an analysis by The Wall Street Journal, approving a record 43 via the fast-tracking process in 2018. That fast-tracking brought Trikafta to cystic fibrosis patients, but it also means patients and insurers are paying for other potentially expensive drugs without proven records.

In announcing its fast-track approval for Trikafta on Oct. 21, the FDA’s acting commissioner said “we’re consistently looking for ways to help speed the development of new therapies for complex diseases, while maintaining our high standards of review.” —E.B.

Emily Belz

Emily Belz

Emily is a senior reporter for WORLD Magazine. She is a World Journalism Institute graduate and previously reported for the The New York Daily News, The Indianapolis Star, and Philanthropy magazine. Emily resides in New York City. Follow her on Twitter @emlybelz.