The Mothers Who Aren't Waiting to Give Their Children Cystic-Fibrosis Drugs

At six months pregnant, Sonja Lee Finnegan flew from Switzerland to France to buy $20,000 worth of drugs from a person she had never met. The drug she was after, Trikafta, is legal in Switzerland and approved for cystic fibrosis, a rare genetic disease that fills the lungs with thick mucus. Finnegan could not get it from a doctor, because she herself does not have cystic fibrosis. But the baby she was carrying inside her does, and she wanted to start him on the Trikafta as early as possible—before he was even born.

She felt so strongly because Trikafta is, without exaggeration, a miracle drug. As I wrote in the latest issue of this magazine, the daily pills have in the past five years transformed cystic fibrosis from a fatal disease into one where most patients can live an essentially normal life. Trikafta, a combination of three drugs, is not a cure, and it does not entirely reverse organ damage already caused by CF, but patients who grew up believing they would die young are instead saving for retirement. And children born with CF today can expect to live to a ripe old age, as long as they start the drugs early.

How early is best? The drugs are officially approved for CF patients as young as 2, but a handful of enterprising mothers in the United States have gotten it prescribed off-label, to treat children diagnosed in the womb. Where doctors are more cautious, mothers are still pushing the limits of when to start the drugs. A mom in Canada sent her husband across the border to get Trikafta from someone in the United States. And Finnegan flew to France to meet a patient willing to sell their excess supply.

Getting hold of Trikafta is in fact the hardest part. Parents told me of both insurance plans and obstetricians skeptical of a powerful new medication never tested in pregnant women—and not without reason. Trikafta has side effects, and it is new enough that not all of its ramifications are fully understood. But Finnegan pored over all the research she could find and decided that Trikafta was worth it. For $20,000, she bought a five-months supply—a relative bargain compared with Trikafta’s list price of $300,000-plus a year in the United States.

To her, it was worth $20,000 for her son to avoid CF complications that can require major surgery at birth. It was worth $20,000 to prevent permanent damage to his organs that begins even in utero. She felt lucky she could afford it at all. Trikafta in pregnancy is not currently standard practice, but a miracle drug was out there. For her son, she would figure out a way to get it.

The very first expecting moms on Trikafta were women with CF taking the drugs for themselves. Not long after the medication became available, in the fall of 2019, doctors noticed a baby boom in the CF community. Trikafta, it turns out, affects more than the lungs; it can also reverse the infertility common in women with CF, thought to be caused by unusually thick cervical mucus. (Most men with CF are born infertile, because the vas deferens, which carries sperm, never develops.)

Experts worried at first about what Trikafta could do to developing fetuses. “People were like, ‘Don’t do this. We don’t know if it’s a teratogen’”—a substance that causes birth defects, says Ted Liou, the director of the adult-CF center at the University of Utah. (The CF doctors quoted in this article have all conducted clinical trials for or received speaking or consulting fees from Vertex, the manufacturer of Trikafta and several other drugs for CF.) That fear turned out to be unfounded: Hundreds of babies later, there has been, at least anecdotally, no uptick in severe birth defects.

[Read: The cystic-fibrosis breakthrough that changed everything]

Doctors started to see hints that Trikafta in utero could help babies with CF too. Of the hundreds of children born to mothers on Trikafta, only a few of the babies had CF themselves. This is because cystic fibrosis is a recessive disorder, meaning a mother with CF could have a child with CF only if the father also passed on a CF mutation. But the first documented case came to the attention of Christopher Fortner, the director of the CF center and pediatric-CF program at SUNY Upstate, who published a case report in 2021. Trikafta, he told me, made a clear difference for this baby girl.

Cystic fibrosis is caused by an imbalance of salt and water in the body, and this affects developing organs even before birth. One in five infants with CF are born with an intestinal blockage caused by meconium—the normally sticky black stool of newborns—that has turned too thick and hard to pass. This is called meconium ileus, and in the worst cases, the intestines can rupture. Emergency surgery is necessary. Elsewhere in the body, the pancreas never forms properly with CF. “By the time they’re born, their pancreas is really not a functional organ,” Fortner said. Adults on Trikafta still have to take pancreatic enzymes with every meal, but there is some evidence that young children can gain pancreatic function if they begin the CF drugs early enough.

When this baby girl was born, though, her meconium and her pancreas levels were normal from the very start; the standard newborn screening for CF would have never caught her. Fortner started her on enzymes as a precaution, but he stopped them after a week. She is 3 years old now and in preschool. Unlike generations of CF kids before her, she will never have to see the school nurse for enzymes every time she wants to eat. And she may never suffer the recurring lung infections that once made CF ultimately fatal. “The life she’s living,” Fortner said, “that was a whole lot like a cure to me.”

Moms who do not have CF themselves have a much harder time getting their unborn children on Trikafta. In 2021, Yolanda Huffhines’s second child was diagnosed with CF prenatally, after a genetic test was recommended because Huffhines’s first child had cystic fibrosis. The diagnosis did not come as a shock this time, but she began to worry when the baby showed signs of meconium ileus while still in utero.

After coming across a study in ferrets, Huffhines brought the idea of Trikafta to her doctors, who were not all enthused. Her obstetrician in particular was against it. But she found that CF doctors were more willing to weigh the well-known risks of cystic fibrosis—especially meconium ileus—against the less well-known risks of Trikafta. She asked Patrick Flume, who directs the adult-CF center at the Medical University of South Carolina, what he would do if it were his wife and child. He told her he would get Trikafta, and he agreed to help.

Even with a sympathetic doctor, getting Trikafta wasn’t easy. First, Flume tried giving her a stash from a patient who no longer needed it, which was vetoed because his hospital couldn’t ensure that it had been properly stored. Then he asked the manufacturer, Vertex, which also said no. (The company told me it couldn’t provide Trikafta to anyone outside the drug’s official indications.) Finally, Flume told me, he decided to write a prescription as if the mother were his patient. When the insurance company asked if she had at least one copy of a specific CF mutation that Trikafta was developed for, he answered yes, truthfully. Because Huffhines is a carrier, she does have one copy. She started Trikafta at 32 weeks, and by the time her daughter was born, the meconium ileus had disappeared.

Huffhines’s experience on Trikafta was not entirely smooth, though. The drugs come with some well-documented side effects, such as cataracts and liver damage, that have to be monitored, Flume told me, as with any new drug. Although Trikafta during pregnancy went fine for Huffhines, she started to experience unusual symptoms when she continued the medication so her daughter could get it through breast milk. Her usual migraines started going “through the roof,” and her scheduled blood work revealed that her liver enzymes had gone haywire—a sign of liver damage. She had to stop.  

Quitting Trikafta cold turkey could be harmful for newborns, though, which Huffines knew from studying the ferret research. (Suddenly withdrawing, Fortner told me, may cause pancreatitis.) She wondered: Was it possible to give a baby Trikafta directly? The pills would be too big, obviously, but her husband had scales for gunpowder that could weigh down to the milligram. She got a new one overnighted, and she began crushing the pills to give to her daughter—a technique that has since been taught to other moms. Her daughter did well. Huffhines’s doctors ended up publishing a case report in 2022—the first documenting a carrier of CF taking Trikafta.  

The long-term impacts of being on Trikafta in utero still need to be studied. The oldest child is still only 3. In adults, a small minority who have started Trikafta have reported sudden and severe anxiety, insomnia, depression, or other neuropsychiatric symptoms. The link is not fully proven or understood in adults, and it’s completely unexplored for fetal brain development. Elena Schneider-Futschik, a pharmacologist at the University of Melbourne, told me she is collaborating with researchers in the United Kingdom to get long-term developmental data on children exposed to Trikafta before birth. For now, she said, “we don’t know.”

Fortner, who has heard from several pregnant mothers since his first case report, said he does not deter parents already set on getting Trikafta, but he does not, in all cases, push them toward it, either. Given the unknowns, he’s not sure that the benefits outweigh the risks. The clearest exceptions are cases of meconium ileus, in which doing nothing comes with its own costs. Flume told me about a recent patient whose baby was showing signs of an intestinal blockage and whose insurance initially denied Trikafta. The medication was eventually approved—but the mom went into labor the day she was due to start. Her baby needed emergency surgery. “This is something that did not need to happen,” he said.

By the time Finnegan, in Switzerland, went looking for Trikafta last year, she had the earlier cases as models. Her baby wasn’t showing signs of meconium ileus, but she didn’t want to wait until he did, if he was going to end up down that path. Although her doctors were supportive, they could not get her Trikafta. That’s why she had to take unorthodox measures.

She took her first pill in August, and her son was born in October with a working pancreas and no intestinal blockage. He is far too young for this to matter, but she hopes that the Trikafta allowed his vas deferens to develop normally too. Someday, he might want children of his own, and the impacts of getting Trikafta in utero might carry over into the next generation.

Finnegan has been documenting her experience on social media, where she says her posts have inspired other pregnants moms to get on Trikafta for their unborn children. She knows of about 20 now, and after she got in touch with Schneider-Futschik, the researcher decided to survey these moms too. Meanwhile, Finnegan is sharing the stories of other moms as well, making note of details such as how long the mom was on Trikafta, what side effects she experienced, whether meconium ileus was resolved, and if insurance covered the drugs—a case series, of sorts, presented on Instagram. They are still few enough that every case is notable. In the future, though, all of this might become the utterly unremarkable standard of care.