Six months pregnant, Sonya Lee Finnegan flew from Switzerland to France to buy $20,000 worth of drugs from someone she had never met. The drug she sought, Trikafta, is legal in Switzerland and approved to treat cystic fibrosis, a rare genetic disease that causes the lungs to fill with thick mucus. Because Finnegan doesn’t have cystic fibrosis herself, she couldn’t get a diagnosis from her doctor. But the baby she had in her womb did, and she wanted to start him on Trikafta as soon as possible, even before she was born.
She felt so strongly because Trikafta is, without exaggeration, a miracle drug. As I wrote in the latest issue of this magazine, over the past five years, thanks to daily pills, cystic fibrosis has gone from a deadly disease to one that allows most patients to live essentially normal lives. It turned into a disease. Trikafta, a three-drug combination, is not a cure and does not completely reverse the organ damage already caused by CF, but patients who grew up believing they would die young are instead saving for retirement. And today, children born with CF can expect to live to a ripe old age, as long as they start drug treatment early.
How far in advance is best?the drug is officially approved 2 year old CF patient, but a few enterprising mothers in the United States have had it prescribed off-label to treat children diagnosed in utero. While doctors are being more cautious, mothers are still pushing the boundaries of when to start drugs. A mother in Canada sent her husband across the border to get Trikafta from someone in the United States. Finnegan then flew to France to meet patients who would sell their surplus supplies.
Getting the trikafta is actually the most difficult part. My parents told me about both insurance plans, and my obstetrician was skeptical about a powerful new drug that had never been tested on pregnant women, but there was no reason for that. Trikafta has side effects, and because it is a new drug, not all of its effects are fully understood. But Finnegan thoroughly researched all the research he could find and decided that Trikafta was worth it. She bought her 5 months supply with her $20,000. This is a relative bargain compared to her Trikafta list price. Over $300,000 per year In the US.
For her, it was worth $20,000 to help her son avoid complications from CF that could have required major surgery at birth. It was worth $20,000 to prevent permanent damage to his organs that started even in the womb. She felt lucky to be able to afford it. Trikafta during pregnancy is currently not a standard treatment, but a miracle drug has appeared. For her son, she would figure out a way to get it.
Trikafta’s first expectant mother was a woman with CF who took the medication for herself. Shortly after the drug became available, in the fall of 2019, doctors noticed a baby boom in the CF community. It turns out that Trikafta affects more than just the lungs. It may also improve infertility common in women with CF, which is thought to be caused by abnormally thick cervical mucus. (Most men with CF are born infertile because the vas deferens, which carries sperm, does not develop.)
Experts were initially concerned about how Trikafta might affect a developing fetus. “People were like, ‘Don’t do this.’ We don’t know if it’s a teratogen,” said Ted Liow, director of the Adult CF Center at the University of Utah. To tell. (All of the CF doctors cited in this article have conducted clinical trials or received speaking or consulting fees from Vertex, the manufacturer of Trikafta and several other CF drugs.) ) Those concerns turned out to be unfounded. Since then, hundreds of babies have been born. Severe birth defects have not increased, at least anecdotally.
Doctors are starting to see hints that trikafta in the womb may also help babies with CF. Of the hundreds of children born to mothers in Tolikafta, only a few had CF themselves. This is because cystic fibrosis is a recessive disease, meaning a mother with CF can only give birth to a child with her CF if the father inherited her CF mutation. means. However, the first documented case caught the attention of Christopher Fortner, director of his CF Center and Pediatric CF Program at the State University of New York, who published the following report: case report He said Trikafta had brought about a noticeable change in the baby girl.
Cystic fibrosis is caused by an imbalance of salt and water in the body and affects developing organs even before birth. 1 in 5 infants have CF They are born with an intestinal obstruction caused by meconium (usually sticky, black stool in newborns) that becomes so thick that it is difficult to pass. This is called meconium ileus, and in the worst case scenario, the intestine may rupture. Emergency surgery is required. Elsewhere in the body, the pancreas does not form properly in CF. “By the time they’re born, their pancreas isn’t really a functioning organ,” Fortner says. Adults taking Trikafta still need to take pancreatic enzymes with every meal; some evidence This means that if young children start taking CF drugs early enough, they can gain pancreatic function.
However, when this baby girl was born, her meconium and pancreatic levels were normal from the start. Standard newborn testing for CF would never have caught her. Fortner started her on enzymes as a precaution, but stopped them after a week. She is currently 3 years old and attending kindergarten. Unlike her CF children of the generation before her, she doesn’t have to ask her school nurse for enzymes every time she wants to eat her food. And she may not suffer from the recurrent lung infections that once ultimately killed CF. “The way she lived her life was just therapy for me,” Fortner said.
Mothers who do not have CF themselves have a very difficult time getting their unborn child to take Trikafta. In 2021, Yolanda Huffines’ second child was diagnosed with CF prenatally after her first child had cystic fibrosis and genetic testing was recommended. Her latest diagnosis wasn’t a shock, but she started worrying when her baby showed signs of meconium ileus while still in the womb.
After encountering study with ferrets, Huffines brought the idea for Trikafta to doctors, but they were all reluctant. Her obstetrician in particular was against it. But she has found that CF doctors are more willing to weigh the well-known risks of cystic fibrosis, particularly meconium ileus, against the lesser-known risks of atricafta. She asked Patrick Froome, director of 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 was going to get the trikafta and agreed to help her.
Obtaining Trikafta wasn’t easy, even for sympathetic doctors. First, Ms. Froome tried to give her a stash of patients no longer needed, but she was turned away because the hospital could not confirm whether it was stored properly. So he contacted the manufacturer, his Vertex, and again he was told no. (The company told me it could not provide Trikafta to anyone outside of the drug’s official indication.) Finally, Ms. Froome told me that her mother was her patient. He said he decided to write a prescription. When her insurance company asked her if she had at least one copy of her specific CF mutation for which Trikafta was developed, he honestly answered “yes.” Huffines is a carrier, so he has one copy. She started Trikafta at her 32 weeks and her meconium ileus had disappeared by the time her daughter was born.
Huffines’ experience with Trikafta wasn’t completely smooth, however. The drug has well-documented side effects, including cataracts and liver damage, and needs to be monitored like any new drug, Froome said. Trikafta was fine for Huffines during her pregnancy, but when her daughter continued to take the drug so she could get it through her breast milk, she started experiencing unusual symptoms. Her regular migraines were “going through the roof” and routine blood tests showed her liver enzymes were abnormal, a sign of liver damage. It turns out that there is something. She had to stop.
But Huffines knew from research on ferrets that stopping Trikafta cold turkey could harm newborns. (Fortner told me that sudden withdrawal can cause pancreatitis.) She wondered: Is it possible to give Trikafta directly to the baby? Naturally, the powder would be too large, but her husband had a gunpowder scale that could measure to the milligram. She got new pills overnight and began crushing her pills and giving them to her daughter. This method was later taught to her other mothers. Her daughter did well. Huffines’ doctors ultimately case report 2022 – First recorded case of CF carrier taking Trikafta.
The long-term effects of taking Trikafta in utero still need to be studied. The oldest child is only 3 years old. In adults, a small number of people starting Trikafta report sudden and severe anxiety, insomnia, depression, or other neuropsychiatric symptoms. This link is not fully proven or understood in adults, and is completely unknown in fetal brain development. Elena Schneider-Fuchik, a pharmacologist at the University of Melbourne, told me she is collaborating with British researchers to obtain long-term developmental data on children who were exposed to tricafta prenatally. For now, she said, “I don’t know.”
Fortner, who has heard from several expectant mothers since the first case report, said he does not intend to dissuade parents who have already started on Trikafta, but he does push for Trikafta in all cases. He said he had no intention of doing so. Given the unknowns, we don’t know if the benefits outweigh the risks. The most obvious exception is in the case of meconium ileus, where doing nothing has its own costs. Flume told me about a recent patient whose baby was showing signs of intestinal obstruction and whose insurance initially wouldn’t cover Trikafta. The drug was eventually approved, but the mother went into labor on the day she was due to start. She needed emergency surgery for her baby. “This is something that didn’t need to happen,” he said.
When Ms. Finnegan of Switzerland went looking for Trikafta last year, she had an early case as a model. Her baby showed no signs of meconium ileus, but if her baby was going to go down that path, she didn’t want to wait until that happened. Doctors were cooperative, but they were unable to obtain Trikafta. That’s why she had to take unconventional measures.
She took her first medication in August, and her son was born in October, with a functioning pancreas and no intestinal blockage. He is too young for this to be a problem, but she hopes that thanks to her trikafta, his vas deferens will also develop normally. One day he may want to have children of his own, and the effects of having Trikafta in his womb may be passed on to the next generation.
Finnegan has documented her experience on social media and says her posts have inspired other expectant mothers to take Trikafta for their unborn children. She currently knows about 20 mothers, and after contacting Schneider-Futchik, the researchers decided to survey these mothers as well. Meanwhile, Finnegan also shared stories from other mothers, including how long their mothers had been taking Trikafta, what side effects they experienced, whether the meconium ileus resolved, and whether the drug was covered by insurance. I am taking note of the details. A series of incidents featured on Instagram. They are still sufficiently rare that any case is worth noting. But in the future, all this may become a completely discreet standard treatment.
