Trisomy 18 Was Once Seen as Too Lethal to Treat. Some Kids Are Now Surviving.

Noah, who was 4, was asleep on his side, facing a wall, his dark hair visible above the covers. He was surrounded by stuffed animals, and gauze pads and a box of purple medical gloves sat at the foot of his large, criblike bed. Wires and blue tubing emerged to connect Noah to medical machines.

Jacqueline emptied a cup of saline solution into the chamber of a nebulizer and attached it to the ventilator that Noah uses to breathe. As he began inhaling the moist, vaporized air, Jacqueline wrapped a vest around him and flipped a switch that caused it to inflate and deflate rapidly, beating against Noah’s chest to loosen any mucus that might be blocking his airways. Jacqueline used a syringe to check for residual formula in Noah’s stomach through his gastrostomy, a surgical opening in his abdomen. She then used a machine to induce coughing and employed a suction device to clear out respiratory secretions through Noah’s tracheostomy, a surgical opening in his neck. The process took about 20 minutes. Noah’s oxygen levels improved.

Jacqueline held her son on her lap and then carried him to the living room, placing him upright onto a frame that supports his standing and helps prepare him for learning to walk. For now, Noah uses a wheelchair. He smiled as he played with a plastic caterpillar, seemingly oblivious to Jacqueline’s worries.

That evening, Noah’s two older siblings raced in through the front door with their grandmother, who had taken them for haircuts. Jacqueline, who is divorced and shares custody of the children with her ex-husband, wolfed down some pizza with her kids and turned on a movie.

After it was over, she began changing Noah’s diaper and discovered a mess that extended up his backside. She asked her 9-year-old daughter, who often volunteers to assist with Noah, to hand her some wipes. When Jacqueline finished Noah’s diaper change, she washed her hands and prepared to clean his tracheostomy, a twice-daily routine. She peeled open a kit with sterile cotton swabs, squares of gauze and other supplies. As she set to work, she sent the other two kids to brush their teeth. Noah, who does not talk, babbled and made faces as Jacqueline tended to him. She cooed back, “What are you saying, son?”

Before bed, Noah received another treatment with the vest that helps clear mucus. Jacqueline gave him his nightly medications, including an immunity complex with zinc and echinacea, allergy medicine, gabapentin for mobility, erythromycin to aid digestion and magnesium to promote sleep.

Sometimes Noah keeps the same hours as his family, and on other nights he stays up jiggling his toys. A caregiver remains in the room watching over him. On this night, a nurse was due to come at 10 p.m. and stay until 6 in the morning, after which Jacqueline would look after Noah until noon, when another nurse was scheduled to arrive.

Earlier that evening, a patient who was 21 weeks pregnant had texted Jacqueline asking to talk. The woman’s fetus had the same rare chromosomal diagnosis as Noah, trisomy 18, also known as Edwards syndrome. Her doctor had given her Jacqueline’s number for support — Jaqueline often counsels patients and physicians contending with the diagnosis. Jacqueline slipped into Noah’s empty room to place the call. The woman explained that at a prenatal appointment that day, an obstetrician had inquired whether she would want her son’s heart and spine defects to be surgically repaired after he was born. She cried as she told Jacqueline that she needed more information to decide on the operations. She also worried that no surgeon would be willing to perform them.

Trisomy 18 is one of the few conditions in pediatrics for which there is no agreed standard of care. Different hospitals, doctors and surgeons vary in their willingness to offer even basic medical interventions. Some physicians tell pregnant patients what was long believed to be true — that the fetus has a fatal condition — even as newer science shows that some babies can live for years. Parents are often left to battle for information and care, and battle with themselves over whether treatments that might give children a shot at a longer, healthier life, but will not cure their cognitive disability or all their serious medical problems, are more likely to harm than to help.

Despite being a physician, Jacqueline had often felt the need to prove to other doctors “that Noah’s worth my time and effort,” she told the pregnant woman. Few people “have any kind of understanding of what this complexity feels like.”

Jacqueline would never forget the call she received from her doctor when she was 10 weeks pregnant. She contacted the office repeatedly to check for the results of a blood-screening test that estimates the risk of fetal chromosomal abnormalities. She was 36, had been spotting and knew that the chances of miscarriage increase with age.

Jacqueline instantly recognized her obstetrician’s tone. It was the one Jacqueline used with her own patients when she had to share something difficult. She began praying for the mildest of the conditions included in the screening, trisomy 21, or Down syndrome. “I’m so sorry to tell you,” her doctor said, “but it’s positive for trisomy 18.” Jacqueline would later teach trainees that physicians should pause, as her own doctor did then, to allow the patient to “absorb the shock of the headline.”

Other tests confirmed the diagnosis, and Jacqueline began researching the condition online. She had learned in medical school that it was fatal, hopeless. Typically, all cells in the human body aside from eggs and sperm contain 23 pairs of chromosomes, with one member of each pair coming from each biological parent. But children with trisomy 18 have three copies of the 18th chromosome. The syndrome was defined in 1960, two years after the discovery of the origin of Down syndrome, which occurs roughly four to five times as often. About a thousand pregnancies a year in the United States are known to be affected by trisomy 18. Miscarriages are common, and many people choose abortions.

Jacqueline’s initial internet searches produced grim results. One statistic, from the National Institutes of Health, estimated that only one out of every 10 to 20 children born with trisomy 18 lived beyond a year. Other sources said that half of newborns with the syndrome died within a week and that the average life expectancy ranged from three days to two weeks. Boys generally had shorter life spans than girls.

Jacqueline grieved as if she had already lost the pregnancy. She considered an abortion, which was still largely legal in Texas, more than two years before the Supreme Court overturned Roe v. Wade. But she said she chose “to be Noah’s mom as long as he decides to be here.”

If Noah made it to birth, she and her husband at the time, Vince Battistelli, planned to focus on giving him love and keeping him comfortable. As a doctor, she recommended interventions when they could improve her patients’ lives — the benefits had to outweigh the risks of causing unnecessary suffering or reducing dignity.

One day, Vince found a YouTube video of a toddler with trisomy 18. When the boy was born, his doctor predicted a life span of only one to two weeks and told his parents that they shouldn’t worry if he could not breastfeed or take a bottle. A text card read: “Babies with trisomy 18 are often sent home to die with little to no medical care.” Another card said that the family pushed for their baby to get a feeding tube. The video cut to footage of the boy, Alex, at age 2, sitting up, laughing, playing with toys and being hugged by his siblings.

Jacqueline had a hard time believing what she was seeing. Alex was, in her words, “much more expressive and nonvegetative” than she would have expected, and he did not look as if he were hurting. She wondered whether, in some instances, treatments might do more than simply prolong suffering.

The end of the video listed a few resources. One was the Support Organization for Trisomy 18, 13 and Related Disorders, or SOFT. It was founded in 1980 by a University of Utah geneticist, Dr. John Carey, and the mothers of two of his patients with trisomy 18, one of whom lived to age 4 and the other to nearly 11.

Jacqueline spent hours exploring SOFT’s website, which included stories from families of all backgrounds whose children had received a range of medical interventions. The site also had links to professional literature, and Jacqueline read research on cardiac surgery, birth weight and ethics. She was frustrated by the imprecision of the prognosis. Studies often lumped trisomy 18 with trisomy 13 — an even rarer condition that has some similarities but is caused by a third copy of the 13th chromosome. They also sometimes included children with trisomy 18 mosaic, a less severe form of the syndrome in which only some of the cells have a third copy.

What was clear, however, was that while people with Edwards syndrome had shortened life spans, treatments could sometimes improve survival. Jacqueline learned from SOFT’s online support group that other parents were still being told that their fetus had a “lethal anomaly” and that intervening, especially with surgery, would be futile. Others were advised that even giving birth to children with the condition could diminish their family lives and deprive their other children of attention.

Jacqueline knew that nobody cared more about her family or Noah’s quality of life than she did. She trusted that the same was true of every parent she was getting to know through SOFT. Yet many said they were asked repeatedly by medical professionals, “Are you sure you don’t want to terminate?”

Two months before Noah’s due date, Jacqueline poured her frustration into a note and posted it on a Facebook group for obstetrician-mothers. She urged them to keep up with the research on life-limiting conditions and provide parents with comprehensive and unbiased information. “Yes, T18 is very hard, and there are significant medical challenges, but it is not fatal,” she wrote. “(I would also like to point out that in the not-so-distant past, trisomy 21 was considered ‘fatal,’ and look how medicine has changed in the treatment of these patients.)”

Jacqueline’s prenatal appointments were at the hospital where she worked at the time, Children’s Hospital of San Antonio, now CHRISTUS Children’s, one of relatively few children’s hospitals in the United States with a fetal-care center offering consultations with specialists. Jacqueline and Vince met with the palliative-care team, which helped the couple create a birth plan defining how far they were willing to go to save Noah’s life. Would they monitor his heartbeat during labor? If the monitoring revealed signs of distress, would Jacqueline undergo a C-section? After Noah was born, did they want a breathing tube inserted if he would die without one? If his heart stopped beating, did they want the medical team to perform chest compressions in an effort to revive him?

For Jacqueline, considering such explicit questions was jarring. “I left feeling like, How much do I love my kid?”

In 1970, Dr. David W. Smith published the first edition of a seminal medical textbook on congenital conditions, “Recognizable Patterns of Human Malformation,” which described children with trisomy 18 as “severely mentally defective individuals.” Smith, a pediatrician, added, “Once the diagnosis has been established, the author recommends limitation of all medical means for prolongation of life.” Trisomy 18, trisomy 13 and one rare form of dwarfism were the only conditions to which he gave this recommendation, and it remained in his textbook for nearly three decades.

As medical technology advanced, battles erupted over who should decide what cutting-edge treatments a child should receive. Could doctors ever take actions — whether to provide or withhold care — that they perceived to be in a baby’s best interests but that went against parental wishes?

In the United States, the debate was accompanied by legal battles, including a well-known Baby Doe case in the early 1980s, in which doctors of a newborn with Down syndrome sought unsuccessfully to provide a potentially lifesaving operation against parental wishes. The doctors argued that medical advances and a better understanding of Down syndrome had greatly improved the prognosis. Supporters included Surgeon General C. Everett Koop, a pediatric surgeon who had performed many similar operations and who founded America’s first neonatal surgical intensive-care unit. Denying care to the baby, he said, constituted disability discrimination. The case and others like it led, in 1988, to a revision of the Child Abuse Prevention and Treatment Act, which now prohibits withholding medical treatment for infants in most circumstances.

The law provides exceptions, however, including interventions deemed “futile,” “inhumane” or ineffective at improving all of the baby’s life-threatening conditions. In the United States and abroad, doctors have long viewed trisomy 18 as fitting those criteria. An article in the influential medical journal The Lancet in 1992 was typical for the era; at a time when prenatal diagnosis was less common, Dr. Albert P. Bos and his colleagues at a Dutch children’s hospital called for rapid chromosomal testing in newborns suspected of having the syndrome so that “surgery may then be withheld. A newborn infant with trisomy 18 should be considered as a patient with a hopeless outlook who ought not to be subjected to invasive procedures.”

The authors added, “We believe that, because of their limited life expectancy or profound mental retardation, such patients ought to be transferred from the intensive-care unit and be allowed to die.” The doctors referred to these newborns’ physical condition as “incompatible with life.”

A decade later, several notable studies began challenging the idea that intensive treatments were futile, even challenging the very concept of futility. In 2006, in Japan, Dr. Tomoki Kosho and colleagues reported that more newborns than expected survived when their families were given the option of intensive care. While previous research indicated that fewer than one in 10 babies with the condition lived for at least a year, a quarter of the 24 infants treated in this hospital over the course of nearly a decade did.

Also in the mid-2000s, researchers analyzed the records of 24 children with trisomy 18 and 11 children with trisomy 13 who received heart operations over two decades in the United States, Canada and Europe. Only three of the patients died before being discharged from the hospital. Four went back to referring institutions, and the rest went home.

Since then, many more studies on trisomy 18 have been conducted. Late last year, a group of researchers in Canada published a review of more than 200 academic papers released from 2012 to 2023. In recent decades, new cases have risen, likely because of increased maternal age (other studies have found an association between abortion restrictions and higher birth-defect rates in newborns). Many infants died in the initial days or weeks of life. Those who happened to survive longer or received interventions that helped them do so had higher chances of living at least a year.

One study they cited found that more than half of children who reached their first birthday would reach their 10th. Separately, within SOFT, at least 12 people identified by their families as having full trisomy 18 have lived into their 20s, six into their 30s and two into their 40s, according to John Carey, the geneticist.

The Canadian review noted “a paradigm shift,” from treatments focused almost exclusively on comfort to those that could improve survival. There were no guarantees, however, and some babies still died after enduring long stays in intensive care.

Children with the syndrome lived with significant cognitive disabilities; in one study, children ages 9 months to 5 years displayed skills primarily in the 3-month-old to 12-month-old range. Older children typically communicated preferences with gestures and vocalizations, and some were eventually able to walk. They relied on caregivers and, for many, feeding tubes and home oxygen. Even as raising children with the condition could be overwhelming, family members tended to describe them in surveys as happy and friendly, with lives that had a positive effect on others, and believed that their quality of life improved after receiving surgeries.

Still, few of the studies were particularly robust, and the percentage of babies who reached their first birthday differed drastically — from 3 to well over 50 — possibly because of variations in access to care and “perspectives and values affect[ing] the care provided.”

The authors concluded that there was a “limited knowledge base guiding decision-making and care.” They added, “Even the phrase ‘life-limiting’ diagnosis is problematic if the concept of life is reduced to survival; there is more to living a life than surviving.”

During her third trimester, Jacqueline decided that if Noah showed signs of decline during labor, she would have a C-section to improve his chances of being born alive. “I hope so much to meet you,” she wrote in a letter to her son. “To smell you and hold you. To give you my warmth and all the love I can muster.”

She and Vince also decided that they wanted Noah to receive full treatment for three days to help him transition to life outside the womb. “If he is struggling after this period, we are open to reassessment,” they wrote in a one-page letter to the medical team, titled “Noah’s Birth Plan.” “In the same vein, if he is clearly showing he wants to be the little fighter we think he might be, we would like to continue to support him in his fight.”

Jacqueline’s labor was induced on Jan. 28, 2020, at 38 weeks and five days. With each contraction, she kept an eye on Noah’s heart monitor, relieved to see that he was tolerating the stress. After two pushes, there he was. She lay skin-to-skin with him for the briefest moment before the neonatal team lifted him into a medical bassinet beside her bed. Noah was not breathing. Time stopped. Jacqueline would later write in her journal that fear ran “rampant and wild in my chest, my own air growing thin.”

The doctor, nurse and respiratory therapist tried unsuccessfully to insert a breathing tube into Noah’s mouth; his jaw was extremely small, a common feature of trisomy 18 known as micrognathia. After about 10 minutes of air being pumped from a green Ambu bag into a mask over Noah’s face, he began breathing.

Jacqueline took him in her arms, holding his oxygen mask. Vince leaned over them and kissed his forehead before Noah was taken to the neonatal I.C.U. At 5 pounds 10 ounces, Noah was smaller than average for a full-term newborn, but unlike most babies with trisomy 18, he was not below the 10th percentile.

After the first three days, nothing was clear. Every day brought new questions about how much to intervene to support each of Noah’s vital body systems. How would they feed him when he couldn’t suck? At first through a tube from his mouth to his stomach, later switched to his nose. Jacqueline pumped breast milk, but Noah still lost weight, dropping to 4 pounds 8 ounces. Sometimes, Noah stopped breathing as he did in the delivery room and was resuscitated.

A cardiologist confirmed the presence of a hole in the wall of Noah’s heart that divided the two ventricles, one of which pumps deoxygenated blood to the lungs, the other oxygenated blood to the body. Known as a ventricular septal defect, it is the most common heart defect in all babies, including those with trisomy 18. It allowed blood from both sides of Noah’s heart to mix, causing it to work harder. If left unrepaired over a period of months, it could lead to irreversible high blood pressure in the lungs and heart failure.

Jacqueline and Vince might eventually face the question of heart surgery. But Noah would have to grow first, to reach a goal weight of about 10 pounds.

After five exhausting weeks, Jacqueline and Vince brought Noah home. His sister, Jennaleigh, who was 5 at the time, stroked his soft head, and his brother, Franklin, who was 2, sat on his father’s lap and helped cradle his brother.

Five days later, an alarm on Jacqueline’s phone went off. Noah had stopped breathing. She ran to his side as his oxygen plummeted. Her training took over, and her arms and body began moving through the steps she had learned in a neonatal resuscitation course, counting “one and two and three and” as she gave him breaths. She would later recall flashes of thoughts: This is surreal. I can’t believe I have a purple baby right now. I hope that my best is good enough. Never in her eight years of practice had she used these skills — until now, in her own home.

The same weekend, Noah stopped breathing again, and Jacqueline again revived him. She and Vince spoke with Noah’s assigned pediatrician, Dr. Ruchi Kaushik, who specialized in the care of babies with medical complexity. Together, they decided to halt further extraordinary measures and put Noah on hospice, expecting that he would die. Over the coming days, they decorated canvases with Noah’s handprints and footprints for the family to keep as mementos. Jacqueline steeled herself for her son to leave her at any moment.

But Noah surprised everyone. The addition of a commonly used stimulant — caffeine — to his feedings seemed to help remind his brain to breathe. Months passed with just two brief hospitalizations when he had a fever. Jacqueline sometimes caught herself looking at Noah and thinking, You’re still here. Slowly she let herself think, Maybe you’re going to be OK. Noah stared up into Jacqueline’s eyes. He began rolling from side to side. That summer, he smiled for the first time in an intentional way, which made Jacqueline cry.

One day in June, shortly before Jacqueline had to return to work after maternity leave, she turned to Vince and asked, “What do we do now?” Vince had been a stay-at-home father before Noah was born and would remain so, but the help of skilled nurses would be invaluable. The family’s private insurance would not cover what was needed, and their income exceeded typical Texas Medicaid requirements, but they had applied for a waiver as part of the state’s Medically Dependent Children Program. Authorized by a section of the Social Security Act signed into law by President Ronald Reagan in 1981, the program helps children who need skilled care live with their families rather than in costly nursing facilities. It allows states to pay for services and items that insurance often does not cover, including private nursing, certain medical equipment and home modifications, no matter the family’s income.

Jacqueline spent dozens of hours on the phone figuring out how to get Noah enrolled. According to the state’s rules, his level of medical necessity allowed him to jump the line. As of May 2025, the Texas health department reported that nearly 7,000 children were on an “interest list” awaiting spots. Many states cap the number of children who can participate or do not prioritize those with a higher level of medical necessity. This can lead to years on waiting lists, with families experiencing financial strain and children often dying before being accepted.

Noah initially qualified for 140 hours per week of private-duty nursing. It would mean hiring a rotation of nurses to come to the house and care for him. Another program paid Vince’s sister, a nurse, to cover additional hours.

Jacqueline later learned that if she moved to Connecticut or Massachusetts for a medical fellowship, Noah would most likely qualify for far fewer hours of home nursing. Other states had no programs at all.

In late July 2020, Noah was hospitalized after developing a high fever from a severe urinary infection. Dr. Tarak Patel, a pediatric pulmonologist, began trying to understand why Noah would still sometimes stop breathing. Children with trisomy 18 are often born with small jaws and softer tissues above their voice box, which can flop over their airway and obstruct it. This puts them at risk for respiratory failure, especially in combination with other common problems: Poor swallowing can lead to aspiration of food or liquid, causing a sudden tightening or spasm of the larynx; heart defects put an extra strain on the blood vessels of the lungs; and slower brain development can impair the coordination of muscles and nerves that control breathing and swallowing. Supplying air directly into the windpipe through a tracheostomy can help.

Patel told me that earlier in his 17-year career, invasive interventions were thought to be inappropriate for babies with trisomy 18 because of the widespread belief that “they were all going to die within a year.” The attitude, he said, was “there’s no point.”

Over time, however, Patel began noticing that among the relatively few babies with trisomy 18 who underwent early tracheostomy or heart repair, some ended up living for years instead of months. They also seemed to be growing, achieving physical and cognitive milestones and falling ill less often.

Still, a tracheostomy and a ventilator require a family to learn to monitor and maintain medical equipment. Patel tells parents that from that point on, if their child becomes sick, choosing palliative care will be harder, because it involves taking away a device rather than choosing not to initiate an intervention. “You feel like you’re pulling the plug,” he said.

Jacqueline and Vince did not believe that something as invasive as a tracheostomy would be good for Noah’s quality of life. “It just felt like a last-ditch effort,” Jacqueline explained to me.

Noah was discharged from the hospital, and Kaushik, the pediatrician, called Jacqueline on her way home. “He survived,” the doctor said of Noah’s life-threatening infection. Then she ventured, “Are you ready to have a new conversation?”

Noah’s most pressing issue was his poor nutrition, which put him at risk for further infections and would undermine his development. Kaushik suggested that the couple elect a minor surgery to create a passageway into Noah’s stomach through the skin of his abdomen so that he could be nourished more easily through a gastrostomy tube.

Vince was skeptical. He knew little about gastrostomy tubes, and to him, Noah’s failure to nurse well on his own had been a sign that he was not destined to thrive. But at the hospital after Noah’s birth, the temporary feeding tube that had been threaded into a nostril and down to his stomach, a nasogastric tube, had been placed almost automatically. Vince recalled having been told something like, “When children aren’t eating we put an NG tube in.”

Noah had continued to rely on that tube, and one night at home when Jacqueline was working late, he had yanked it out. Vince struggled to reinsert it, and Noah bawled. Vince rocked him and worried that the tube might have gone into his trachea rather than his esophagus. They ended up at the hospital.

Thinking about these struggles, Vince changed his mind about the surgery. Maybe the new feeding process would be not only more effective but also more comfortable. The fact that Noah already had an NG tube “for me made the G tube an easy transition,” he told me. Noah underwent the procedure that August when he was 7 months old.

Vince would later look back on the insertion of the NG tube as “a first step” toward increasingly daunting medical decisions that challenged the couple to examine whether they were doing something for Noah or to Noah.

“There seems to almost be a hostile reaction to the idea of going on caring for a kid with trisomy 18,” Dr. James Hammel, then the division chief of pediatric cardiothoracic surgery, told me when I visited him at Children’s Nebraska in Omaha in 2019 to watch him operate on a child with the syndrome. He was one of the few surgeons convinced that repairing heart defects in selected cases could avert the misery some children experienced as their circulatory problems spiraled. That year, Hammel performed cardiac surgeries on 17 children with trisomy 13 or 18, according to data he has presented at medical meetings. That was more than a fifth of the surgeries that one analysis showed were performed on children with the syndromes across about 50 pediatric hospitals in the United States.

The way Hammel views it, all people with trisomy 18 will die, but so, too, will all people without trisomy 18, eventually. “So what constitutes a worthwhile life?” he said. “That’s the question.”

Hammel had performed a complicated repair on a local baby in 2017. Word of his willingness spread in online support groups, and Omaha became a magnet for families from around the country.

Research published in The Annals of Thoracic Surgery gave Hammel the scientific grist he needed to persuade skeptical co-workers. The study’s authors analyzed the records of 69 patients with trisomy 18 whose hearts were repaired from 1982 to 2008 in the United States and Canada. Nearly nine out of every 10 survived to hospital discharge, and half of those children remained alive 16 years later. The results, published in 2017, shocked many doctors and nurses.

There were colleagues, however, who found some of the Omaha cases ethically challenging. “It’s not good to do futile interventions,” Dr. Luca Brunelli, a former division chief of neonatology there, told me, describing futility as interventions that “prolong the inevitable” when “there’s no hope for any resolution.” Still, he said, for “a mom, you’ve been fighting for this baby for nine months. How do you give up? How do you say no now? It’s really, really a challenge.”

Once, a mother gave him a Bible as she pressed to continue intensive treatments for her son. Brunelli returned with two articles he translated from the Vatican’s website stating that interventions were not always beneficial and that sustaining vital functions was not the same as promoting health. The baby lived another year, mostly hospitalized.

Brunelli acknowledged that certainty is never total and that “when things go from helpful to futile, it’s more of a gray line.”

Dr. Ben Wilfond, a bioethicist and pediatric pulmonologist, cautions colleagues against drawing that line too definitively. While profound disability is certain in a baby with trisomy 18, “we don’t know what that will mean for that child and for that family,” he said. Wilfond made these comments at an executive meeting of the Trisomy Collaborative, a new initiative to advance trisomy 13 and 18 research, improve medical education and support families, funded by an heir to a multibillion dollar fortune who lost a baby to Edwards syndrome. For some parents, Wilfond said, “having a child with profound disability is meaningful and engaging, and for others it’s very difficult. That’s another type of uncertainty.”

Rachelle M., who at 22 weeks of pregnancy learned that her fetus had severe heart and brain defects because of trisomy 18, struggled with what to do after a doctor’s prognosis of a “short and painful” life. She ultimately chose termination to spare her child “later suffering.” Her mother helped her pay to travel across state lines because of abortion restrictions.

She said her wrenching decision was also a result of her family circumstances and her work as a special-education teacher. “I have seen kids with a multitude of disabilities who live good, happy lives,” she said. “They are loved, they are thriving, and though they may never be ‘normal,’ they are able to have joy and contentment and purpose in life. And then I have seen others who will never have more than a very base awareness, who will be fed by tubes their whole life, who will never walk, will never speak, will never not be in diapers or tubed up, will never not be more than a few months out of the hospital. And while in no way am I saying those lives don’t have value, that is not what I wanted for my child.” She added, “You have no idea what you will pick in a life-changing situation until you are in that situation yourself.”

Hammel, too, sometimes grappled with questions of futility and harm. In early 2019, he accepted the transfer of a newborn girl with trisomy 18 from Cincinnati Children’s Hospital Medical Center named Andriana Hope. Doctors there told her parents, who were in their mid-20s and had three other children younger than 5, that they did not think heart repair would benefit her, and surgeons at four other hospitals agreed.

Andriana’s parents had found Hammel through SOFT, and she arrived by air ambulance from Ohio at 2½ weeks old. Hammel took her to the operating room that day to repair her heart. Andriana’s health briefly improved, but later her heart muscle thickened and would periodically stop beating. As months passed in the I.C.U., she received a pacemaker, a tracheostomy and dialysis treatments, and the family was told tests showed evidence of cancer in her liver. She had problems with lymphatic drainage, and her face and body swelled drastically.

“We’re willing to make a kid put up with some short-term suffering if we think that there’s a better future down the road,” Hammel told the couple after nine months. “I feel like what we’re doing with her is hopeless, and because it’s hopeless, I don’t feel good about her hurting.”

He appealed to the couple to “recalibrate” and focus on “treating her pain, and not do things that cause more pain.” He asked them to agree to a do-not-resuscitate order in case her heart stopped, because compressing her chest would “not result in a better future.” “Sometimes the goal that you set out for at the beginning is no longer achievable,” he told them.

Andriana’s parents ultimately decided against the order. They explained that if they had listened to doctors who told them Andriana didn’t have a chance, she never would have made it to 9 months old. Andriana’s mother, Brittany Ellis, said recently she stands by the decision, even as she acknowledged that her daughter suffered “to a certain extent.” Brittany said she decorated Andriana’s hospital room, sang to her and gave her love. “I made it home for her.”

Hammel, for his part, was flabbergasted. “They were an example of a couple who developed an inability to communicate with and trust in their medical team,” he said, adding that distrust can start when a doctor predicts that a fetus won’t make it to term. If it then does, “the family has the first solid evidence that people have lied to them.”

Another doctor told the couple that the hospital had decided not to perform C.P.R., despite their wishes. Asked to comment, Children’s Nebraska representatives declined to discuss the details of its ethics panel’s deliberations, noting in a statement that the panel’s work “is complex and nuanced.” Four days later, Andriana’s heart developed a dangerous arrhythmia. Doctors treated her with medicines and engaged her pacemaker, but she did not recover and died.

By that time in late 2019, the hospital had all but stopped admitting pregnant women from out of state who wanted to give birth to their babies with trisomy 13 and 18. At points, about a quarter to a half of all babies in the neonatal intensive care unit had the conditions, according to doctors I spoke with, and many faced prolonged and difficult recoveries after heart surgery. The costs of caring for them occasionally exceeded a million dollars, and sometimes Children’s had trouble receiving Medicaid compensation (the hospital said these facts did not affect care).

Some parents had left behind jobs, homes with mortgages and their other children. They had often felt discriminated against at other hospitals and arrived in fight mode. They sometimes criticized nurses and argued forcefully for treatments that they believed their babies should receive, even when doctors disagreed. Many neonatal intensive care nurses quit. One described feeling traumatized.

Separately, some people have argued that large expenditures are inappropriate for children with trisomy 18 and other conditions with a “grim neurological prognosis.” “People wondered if the complicated care was draining financial resources,” Hammel said.

Children as a whole account for nearly a quarter of the U.S. population but less than 10 percent of health care spending. Saying that treating the fraction of children with profound disabilities costs too much is, according to Wilfond, the bioethicist, hypocritical, a way of saying that they do not have a meaningful existence. “We shouldn’t be focusing solely on kids with disabilities,” he said. “There are many ways we could be reducing cost.”

Hammel began encouraging heart surgeons at other hospitals to operate on their own patients rather than sending them to Omaha. He eventually left Nebraska for western Michigan in 2021 and retired from clinical practice in 2024. A Children’s representative said in a statement that the hospital “sees very few patients with this condition now.” Hammel said he believes his program started “to change attitudes about the utility of operating on these kids.” This summer, the American Academy of Pediatrics released guidance for the care of children with trisomy 13 and 18, and recently, for the first time in its history, a thoracic-surgery association published recommendations urging members to consider operating on babies with the syndrome on a case-by-case basis.

“Yes, these operations are expensive — they’re expensive for kids without trisomy,” Hammel said. “They’re expensive for kids with trisomy. That’s a decision that we are fortunate enough as a society in America to have made — is that we’re going to fix babies with heart defects.”

When Noah neared 6 months and was still below his goal weight for heart surgery, Vince and Jacqueline had a call with Dr. Daniel Nento, then the chief of cardiac surgery at Children’s Hospital of San Antonio. On the phone in their bedroom, where Noah also slept, Vince asked Nento what he would do if Noah were his son.

Nento told them he would not repair his child’s heart. He also warned that if Noah lived longer, the couple would “get attached to this baby, and then this baby will die,” Vince recalled.

“I have seen more pain in the family,” Nento explained to me recently, referring to cases in which a child with a complex medical syndrome died at several years of age as opposed to earlier in life. Jacqueline appreciated the surgeon’s frankness, but Noah’s survival against the odds and his ability to rally after illnesses had caused her to see him as “this scrappy kid who just is going to need more help.”

Kaushik, Noah’s pediatrician, saw the shift in Jacqueline, too. “Every day Jacqueline had Noah, she only wanted him more.”

Jacqueline appealed to her colleagues at the hospital to perform the heart operation so that the family could stay in San Antonio. She knew she was fortunate to be a doctor with a close connection to the team deciding on Noah’s care.

Still, Nento grappled with whether Noah could tolerate the procedure. There were also questions about whether the surgery program could. Most congenital-heart-surgery programs publicly report their outcomes, including the percentage of patients who die within 30 days of the surgery or during hospitalization. These reports help establish a hospital’s reputation. Nento considered sending Noah to a hospital that had more resources and greater expertise in the care of children with medical complexity. Those hospitals also performed a higher number of surgeries, which would lessen the effect of an adverse event on the program’s statistics.

A group including Nento and representatives from other hospital departments discussed the decision. One factor in Noah’s favor, Nento told me, was that “we didn’t have a mortality that year.” Another factor was Jacqueline herself.

“We came to the conclusion, because Jacqui works with us, is one of our colleagues, that we’d take the risk,” Noah’s pediatric cardiologist, Dr. Jesse Lee, recalled, adding that administrators took part in the decision.

In October 2020, at 10 months, Noah was admitted for surgery. After the operation, the breathing tube that was inserted for surgery was removed. Noah’s oxygen levels began dropping, his tongue occluding his small, collapsing airway. His heart stopped. The team quickly worked to reintubate him and began doing chest compressions. Noah was resuscitated twice before he stabilized. On the 10th day after surgery, Jacqueline and Vince were able to hold their son. A week later, Noah went home.

In May 2021, when he was 15 months, Noah held on to the cushion of the living-room chair where Jacqueline was sitting and stood for the first time. Vince grabbed a phone to capture the moment as Noah’s sister squealed with delight and predicted that he would be able to walk. Noah’s brother wandered over and put a hand on Noah’s forehead, playfully toppling him.

Still, Noah continued to catch respiratory infections that led to hospitalizations. Even a cold would fill his small airway with secretions that endangered his breathing. He was often sick and looked uncomfortable when he needed a mask to help him breathe.

About a year after heart surgery, in an attempt to create more space in his airway, Noah underwent a surgical procedure known as a jaw distraction to lengthen his mandible. Each day for more than a week, a screw was turned to increase, one millimeter at a time, the space between the surgical cuts, which slowly filled with bone and brought Noah’s jaw forward. Vince had to leave the room whenever this was done, and the couple argued over the pain it seemed to cause. “What are we doing to him, Jacqueline?” Vince sometimes asked.

Jacqueline told me that when she faces a medical decision for Noah, she thinks about whether the procedure will help him more than it will hurt. “I don’t want to cause him unnecessary suffering, but I also don’t want to lose him unnecessarily early.” The decisions were inevitably emotional, and she often felt scared. “Should I feel guilty for wanting to do intervention? Should I feel guilty for not wanting to do intervention? Should I feel guilty because I want somewhere in between? You just don’t know how to feel. All you want to do is do right. You just want to be a good mom. You just want to make the right choice, and it didn’t feel like there was any right choice a lot of times.”

Her feelings about invasive interventions for Noah had also shifted. “We want everything to be algorithmic in medicine, and it’s just not,” she said. “It’s messy, and it’s complicated.” She added, “What decision I would have made in 2020 is now different in 2025 and is going to be different again probably in 2030.”

The jaw distraction helped keep Noah out of the hospital when he later contracted Covid. Still, over time as he grew, the procedure lost its effectiveness. In the winter of 2023, he caught another cold. His day nurse, Cici Grainger, and the rest of Noah’s care team battled for 10 days to treat him at home. Eventually, his oxygen levels dropped so low that they had to take him to the hospital. Noah was fitted with a bipap mask that supplied pressure to keep his airways open. Doctors once again raised the idea of performing a tracheostomy, the intervention that Jacqueline and Vince previously declined.

This time, however, Jacqueline was convinced. “It was no longer about whether or not he was going to exist,” she explained, but rather “whether or not he was going to thrive. It became really evident that he was going to need a trach to really thrive.”

In the more than two years since Noah’s tracheostomy, he has only once had an emergency hospitalization, for constipation. The family goes out to parks, museums and restaurants without fear that Noah will catch a virus that will threaten his life. Patel sees Noah in his clinic every three to four months and is working on weaning him from his ventilator. The doctor believes that one day Noah may be able to breathe safely on his own.

In recent years, Noah has undergone a hernia repair, Botox injections to lessen drooling and a scope of his airways. He now sits independently, plays with a range of toys and can stand with assistance. When someone sings to him or plays music, especially Bob Marley and Stevie Wonder, he coos and claps. When he doesn’t like something, he grunts and fidgets. Noah’s home-school teacher has taught him to use a button to indicate when he wants more of something or is “all done.” He is unlikely to produce spoken words, based on small studies of other children with the syndrome.

Noah often turns his head back and forth repetitively and wiggles his fingers in front of his eyes. He rocks himself from side to side dramatically in his crib before he falls asleep. He gravitates to shiny objects, and a spinning ceiling fan can transfix him. He smiles when his brother laughs and when his sister hugs him, scrunching up his cheeks and turning his eyes into crescents — Jacqueline calls these his “elf eyes.” He turns toward his parents’ voices.

Jacqueline accepts that Noah will most likely always need assistance to bathe, dress and eat. Still, she said, “he can travel and experience new things. He can be in nature. He can go swimming, obviously with help. There are lots of things he’ll experience and find joy from. He can be curious.”

What brings a person joy? she asked. And then she answered her own question: love. Time with family. Laughing. Listening to good music. Watching movies. Seeing a beautiful object. “He gets to have all these things.”

She and Vince divorced in February 2024, which they say primarily stemmed from issues that predated Noah. They have joint custody, with the children shuttling between their San Antonio homes. One day last November, Jacqueline and the kids piled into a van with Noah’s nurse Cici and Cici’s boyfriend before sunset to catch a light show at the zoo. When music came on, Jacqueline danced with the two older kids, then grabbed Noah’s hands and danced with him in his wheelchair. His sister spotted a photo booth and clambered into it, and the rest of the family followed. Cici lifted Noah into his mom’s lap to be part of the memories.

Jennaleigh, who is now 10, describes Noah as “always so happy” and tough. “We treat him like a brother, like he’s normal,” she said. While Noah is generally healthy now, she remains anxious about him getting ill. “One minute you think he’s going to be fine, everything’s fine, then the next he’s at the hospital getting a surgery or sick.”

Jacqueline said she thinks a great deal about the well-being of Noah’s siblings. When she speaks with medical trainees about her family, she addresses the question she knows they all have, whether “the older two are getting neglected, thrown into the corner together.” It is not the case, she tells them. “Like you’d do with multiple children in any arena, they all have to take turns.”

Vince said that Noah’s care, including three daily breathing treatments and a slew of medications, is “definitely a challenge when I’m flying solo with all three kiddos and I’m trying to give my attention equally to all three.” There are often days when a nurse is out sick or has to come in late or leave early. Still, he said, “it’s just the hand that we have. I feel like all and all, we’re doing all right.”

The prospect of Noah’s reaching age 5 once felt unobtainable. As his birthday approached, Jacqueline began contemplating what the next five years might bring. She knew that Noah would “continue being the purest light in my life,” she said. “I’m excited to see what he shows me.”

Around that time, President Trump took office and promised drastic cuts to the Department of Education, which monitors special-education services, and to Medicaid, which pays for the bulk of Noah’s roughly $300,000-a-year home-nursing bill and about half of his major medical equipment. The terms “nondiscrimination” and “access” had become “dirty words,” Jacqueline said. She was in a state of fear, and she was angry.

But on the morning of Noah’s birthday celebration, she focused on the milestone. Jacqueline, Jennaleigh and Cici strung up wall decorations while Noah slept late, snotty with a cold. They decked out the fireplace with a fringe of streamers in rainbow colors, and Franklin, his brother, played hide and seek behind them.

Shortly before 10 a.m., Cici carried Noah into the living room and placed him in his wheelchair. In the kitchen, some of Jacqueline’s obstetrics colleagues and friends from medical school chatted over food and drinks, marveling at how long Noah had lived and what a challenging road the last five years had been. Throughout the early months of Noah’s life, Jacqueline had constantly thought about him dying. Those fears no longer sat at the surface, but they were not far below.

At some point — whether in a year, or five years, or 10 — Jacqueline believed that he would have a medical crisis in which his organs would fail, lowering the likelihood of recovery, and that further medical interventions would in fact become futile. At that point, “the focus is on him knowing just how deeply loved he is,” she said, and on prioritizing his comfort and dignity. She believed that she could trust Noah’s doctors to tell her when he was there. “I know that it’s going to be the hardest thing that I do,” she said.

Stephanie Sinclair is a Pulitzer Prize-winning photographer known for her focus on gender and human rights issues. She founded Too Young to Wed, a charitable organization that seeks to empower girls and end child marriage globally.