‘A chance to live’: How 2 Utah families faced a catastrophic birth defect

Ashlee Wiseman, a server at a Sizzler in Idaho Falls, Idaho, was 10 weeks pregnant when a nurse phoned with crushing news: A test of fetal DNA in her blood had found that her baby girl had trisomy 18, a catastrophic genetic abnormality, and was unlikely to survive.

Devastated, she called her partner, Clint Risenmay, who was at work. He broke down in tears.

Wiseman’s response was different.

“A still small voice took over me,” she said. “I’m like, ‘I’m not going to listen to them. There has to be something that can help her. And there has to be someone who can help.’”

A social media search led her to Dr. John Carey, a professor emeritus of pediatrics at the University of Utah, who has devoted his life to helping families dealing with trisomy 18. He supports pregnant women who chose abortion but also helps couples who want to have babies with this rare condition, though most will be stillborn or die within a year.

Wiseman and Risenmay were undeterred. They could do it, they assured Carey. They would lovingly care for a baby with complex medical needs.

The consequences of trisomy 18 are dire. The babies have three copies of chromosome 18 instead of two and, as a result, have serious medical and developmental problems. Nearly all are unable to eat, walk or talk, and all have severe cognitive disabilities. They often need open-heart surgery and feeding and breathing tubes. Many women, after hearing what is in store, choose abortion.

In Texas last year, Kate Cox, whose fetus had trisomy 18, left the state to end her much-wanted pregnancy just hours before the Texas Supreme Court issued a decision forbidding the abortion. Earlier this month, she watched President Joe Biden’s State of the Union address in Jill Biden’s viewing box.

But in a survey of parents who had children with trisomy 18, nearly all described their children as happy and said they had enriched their families’ lives however long they lived.

This is the story of two families who chose to have babies with trisomy 18 but took very different paths in how they cared for them.

‘She’s my baby’

After talking to Carey on the phone, Wiseman and Risenmay knew what they had to do.

They sold everything they could, packed their belongings in a U-Haul and drove off to start a new life near Salt Lake City, where Carey lives. Their baby, Lennie Cardwell-Risenmay, was born Jan. 9, 2023, at the University of Utah Hospital, weighing 3 pounds, 15 ounces. Wiseman and Risenmay fell in love with her immediately.

Their lives have not been easy.

Wiseman got a job as a server at a Sizzler near their small suburban apartment. She worked through Lennie’s three open-heart surgeries in the year after her daughter was born.

Lennie spent five months in the hospital and then alternated between the hospital and an extended care facility for seven months. Every night at 10, when Wiseman’s shift ended, she took an hourlong train ride into Salt Lake City to see her baby, arriving at the hospital or extended care facility around 11 p.m., then rushing out 15 to 20 minutes later to catch the last train home at midnight.

“I would kiss her and let her know she wasn’t alone,” Wiseman said.

Before she and Risenmay could take Lennie home, they had to demonstrate that they could feed her through the tube in her stomach and operate her two breathing machines — one to open her lungs and the other to put medicine in her lungs. They had to show that they knew how to remove, clean and reinsert her breathing tube, give her all her medicines and change her dressings. Finally, she and Risenmay had to stay with Lennie for 24 hours in the extended care facility to prove they could care for her without the help of nurses.

Wiseman feels she has sometimes been judged to be the wrong kind of woman to care for a baby with so many medical needs. One nurse, she said, took a look at her piercings and tattoos and asked if she even had a home to take Lennie to or money to live on.

Such judgment has only pushed her to fight harder for Lennie.

“These trisomy 18 children need to have a chance to live,” she said.

Wiseman quit work when she and Risenmay brought the baby home to the family’s apartment in Midvale. They also have a son, Xyeno, 4, who has autism.

Lennie loves Xyeno, Wiseman said: “When he comes home from school, she kicks her legs and smiles.”

She and Risenmay have routines with Lennie that make them happy. They put a blanket on the floor and watch her smile and roll.

“She started to talk over her trach,” Risenmay said, referring to Lennie’s breathing tube. “It’s like a little coo.” The couple is enthralled by Lennie’s baby voice. Risenmay said he had mourned the thought that he might never hear it.

Lennie loves bath time, splashing and smiling and kicking.

“When I look at the definition of Lennie, there is one word: joy,” Risenmay said.

Wiseman and Risenmay gently cradle Lennie, careful not to disturb the tubes and machines she is hooked up to. She has a pacemaker implanted in her chest, a feeding tube in her stomach and a tube in her throat connected to a ventilator that helps her breathe.

Caring for her is all-consuming.

In the bedroom that they share with Lennie, Wiseman and Risenmay periodically suction mucus that collects in the baby’s mouth, nose and breathing tube. To keep track of Lennie’s complicated medication schedule, Wiseman and Risenmay write it on a whiteboard. They give her 10 medications and supplements each day and eight additional medications as needed.

Alarms go off day and night when the monitors measuring Lennie’s blood oxygen level, heart rate and the functioning of the ventilator pump detect a problem.

In order to leave the house with Lennie, Wiseman and Risenmay have to bring an oxygen tank — there are four lined up in the living room — to take the place of the home ventilator that pumps air into her lungs. They also have two large oxygen tanks in case of a power failure.

“Yes, it’s a lot, but she’s worth every bit of it,” Wiseman said.

Lennie is tiny for her age — she weighs just 14.4 pounds — but is smiley and attentive. She lies on her back in a large crib lined with stuffed toys.

“We call her Lennie Bee,” Wiseman said. The baby, she explained, is a little bundle who reminds her of a bumblebee.

Risenmay calls her his little princess.

Although Medicaid, which paid for Lennie’s hospitalizations, surgeries and medications, would have covered a home nursing aide, Wiseman turned down every candidate. None were trained to care for a baby with a breathing or feeding tube, she said. And she worried about how gently they would handle Lennie, who has brittle bones. Wiseman and Risenmay scoop her up by cradling her buttocks and the back of her head.

Carey said he is concerned about the toll the care is taking on Wiseman and Risenmay.

There are hard days, Wiseman said, when she goes into the bathroom and cries.

But, she said, “I do this because she’s my baby, and I love her more than anything else in this life.”

She said she used to angrily condemn those who chose to terminate pregnancies. But caring for Lennie has changed her.

“I can’t judge,” she said. Taking care of a baby with trisomy 18 “is not for everyone.”

“I know Lennie’s time is limited,” Wiseman said. “But even two years or five years or six years is better than none at all.”

‘I will help you’

Thousands of women each year become pregnant with fetuses that have trisomy 18. Many have miscarriages early on, before they’re even aware of the diagnosis. Trisomy 18 can be detected by a blood test toward the end of the first trimester. But each year, about 1,300 women whose babies have trisomy 18 have a stillbirth, abortion or a live birth, according to the Centers for Disease Control and Prevention.

And the number of babies born with trisomy 18 may rise because of the Supreme Court’s decision in 2022 to overturn the right to abortion. Laws in 14 states now prohibit abortion almost entirely, two ban it at about six weeks of pregnancy, and two prohibit it after 12 weeks. Often, the condition is not diagnosed until the second trimester of pregnancy, which starts around the 14th week.

What couples need most, Carey said, is accurate information about what the condition will mean for their child and for them without imposing judgments about the parents’ choices.

His path as a trisomy 18 expert was unexpected. In the summer of 1979, when he started his academic career at the University of Utah, he found himself with a new patient named Kari Holladay. She was 2 years old and had trisomy 18.

He was surprised. He had thought all such babies died of central apnea, a condition in which the brain stops sending signals to the muscles that control breathing, or from a severe heart defect.

But here was this little girl who defied the odds. Her mother, Kris Holladay, asked Carey for help. She wanted to start a support group. Families, she told Carey, felt alone and isolated.

“I will help you,” he said.

The group, Support Organization for Trisomy, or SOFT, gradually took over much of the lives of Carey and his wife, Leslie, a former newborn intensive care nurse.

“I’ve probably seen more children over age of 1, over 10, over age of 20, over age of 30 than anyone else in the medical profession,” Carey said, referring to his patients with trisomy 18. (Kari lived to age 10.)

Some hospitals refuse to operate on babies with trisomy 18, reasoning that surgery will cause pain and suffering for the babies, who will have a poor quality of life and whose care will consume their parents’ lives.

Carey said he used to share this view but changed his mind when he got to know families who sought intensive treatment for their babies. Now, when they are refused such care, Carey helps them find hospitals willing to provide it.

“There is something about seeing these families cope that inspired me,” he said.

“Before, I had perceived this as the parents’ and the child’s misfortune, a kind of tragedy, a burden,” he said. But then he saw that the children brought meaning to their parents’ lives.

“The connections and relationships are the most rewarding and authentic I have had as a physician,” he said.

An agonizing choice

Shauna Demars, a nurse who lives in Francis, a mountain town near Park City, first found out that she was pregnant with a baby boy who had trisomy 18 when she had an ultrasound exam. She was 20 weeks pregnant.

She waited for what seemed like an interminable time until, finally, a doctor came in and told her that the pathway connecting the two hemispheres of her baby’s brain seemed to be missing.

“It looks like trisomy 18,” the doctor said.

Reeling, Demars excused herself to go to the bathroom, where she quickly searched the condition on the internet. Most babies die, she read.

In the midst of their shock and sorrow, Demars and her husband, Chris, an independent contractor who helps build custom houses, had to decide what to do when their baby was born. Should doctors treat his medical problems aggressively, or only enough to make him comfortable?

They chose comfort care.

“I agonized almost every minute of every day about choices and if we were making the right ones,” Shauna Demars said.

Hank was born Oct. 22, 2019, and whisked to intensive care. A nurse read a report aloud. “It’s trisomy 18, which is incompatible with life,” Shauna Demars recalled her saying.

“What’s your goal?” a doctor asked her.

“I want him to come home,” she said. “I want to take him home.”

When the doctor told the couple that the baby needed a tube in his airway to keep it open so he could breathe, they refused.

“That was probably the most difficult choice I’ve ever made,” Shauna Demars said. But as a nurse, she had cared for patients tethered to a respirator and knew what it would mean for Hank.

Carey met with Shauna and Chris Demars in the hospital and introduced them to other families who had babies with trisomy 18.

Hank came home a week later to the couple’s modest ranch house. He was in hospice care; had supplemental oxygen to keep his blood oxygen levels high enough; and had a heart monitor, a blood oxygen monitor and a feeding tube that was hooked up every few hours. He slept in bed with his parents at night.

One day, Hank stopped breathing. The hospice nurse asked Shauna Demars if she wanted to call an ambulance.

“I don’t want him to die in the hospital,” she replied. “I don’t want him on a ventilator.”

After what seemed like hours, he started breathing again.

“I let myself have a little bit of hope,” Demars said. “Maybe he will be that one person who makes it to age 1. I tried to be rational. But he’s my baby. I wanted a miracle.”

The apnea episodes occurred more and more frequently until, starting at 3 p.m. Nov. 19, 2019, they came every hour.

“That night, I laid awake and didn’t think he’d make it through the night,” Demars said.

At 3 p.m. the next day, he had another episode. Demars was holding him. She held her stethoscope to his tiny chest. Silence.

What do you do when an infant dies? she asked herself. Would he be buried in a lonely little grave?

She learned that babies could be buried on top of an adult.

Hank’s small funeral service was held Nov. 24, conducted by their Latter-day Saint bishop. His parents dressed him. Chris Demars’ father spoke. Shauna Demars read a poem. Chris Demars carried the casket. And Hank was buried on top of his paternal uncle, who died at age 26 in a car accident.

“Even though Hank had only 29 days, he had a life,” Shauna Demars said.

She has been humbled by the experience. Although she would not terminate a pregnancy, “I am not going to judge someone who has an abortion,” she said.

“You don’t know what it is like to be in that situation,” she added.

But she has no regrets.

“Going through the last half of my pregnancy with him, knowing that odds were not in his favor, and then, of course, his death, were the hardest things I’ve ever done,” she said. “But I would do it all again in a heartbeat for the time that we got to spend with him.”

This article originally appeared in The New York Times.