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The facts of Trisomy 18: It's a genetic disorder — but more than that, it's the story of real people, like little Riley and her parents

LARGO

She had felt her baby's first kicks 15 weeks into her pregnancy when she got a call with the results of a blood test she hadn't wanted. Something was wrong with her baby.

Adeline Sullivan looked on the Internet to learn about the genetic disorder that happens when a baby gets an extra copy of the 18th chromosome. It can cause abnormalities in the development of the brain, heart and other internal organs.

Her obstetrician scheduled an ultrasound and Addie watched as her baby sucked her thumb. But the results of an amniocentesis confirmed the diagnosis.

Trisomy 18, the doctor said, is "incompatible with life." The baby would likely die before birth. If she did live, odds were a coin toss that she would die in the first weeks and less than 1 in 10 she would live a year. She would not cry or smile, the doctor told them. She would never walk or talk.

Typically, women who hear a doctor say their child will be a "vegetable" choose to end their pregnancies, or as an online support group calls it, "say early goodbyes."

Addie's boyfriend, Ryan Allen, told her it was her choice. He would stand behind her.

So Addie chose. She chose to ignore the doctor and the grim statistics.

And she chose a name.

Riley.

Addie is 21 now. She was 19 when she met Ryan, who was six years older. They'd known each other two weeks on St. Patrick's Day of 2011 when they decided to go to a bar and then back to Addie's house.

She warned him not to fall in love with her. "I did anyway."

Addie lived on the edge of a crowded mobile home park in Largo, in a home her grandparents owned, with her pet turtle, Tiny Tim, and a cat, Chevelle. She liked shopping for clothes and was pretty handy under the hood of a car. She had quit a job at the WingHouse Bar & Grill after a disagreement with a manager. She planned to get her GED.

Ryan lived down the street with his mother while going to school to be an auto body technician.

When he learned that Addie was pregnant, but before he heard the diagnosis, he quit school and used his Pell Grant to build a bedroom in the living room for the baby.

In the best of situations, keeping a baby with such a diagnosis would present monumental challenges for a couple. Without a car or a job between them, Addie and Ryan were confronted with a decision that could have profound consequences for them.

She was 20 weeks along when the calls started coming from her obstetrician's office. The doctor wouldn't discuss the case with the Tampa Bay Times, but Addie remembers it this way:

Do you know what you're going to do, a nurse asked her.

Yes, she said. She was keeping her baby.

The nurse didn't congratulate her. Do you know your baby's condition, she asked. Do you know her chances of living?

The next week, another call: When do you want to terminate your pregnancy?

Addie did not want to, she said. Again: Have you researched Trisomy 18?

Another week and another call. Addie was firm, but by the fourth call, as they launched into their dire spiel about her baby's fate, she hung up.

Her grandmother laid hands on Addie's belly, praying for a miracle.

Addie started a diary.

Aug. 23 — I am now 22 weeks and one day pregnant with you. You have been jumping all over the place. It's like you're playing hide and seek. I can't wait to see how beautiful you are and who you look like. If you have big ears like your daddy or if you have my nose.

At her 28-week appointment, Addie asked her obstetrician about Caesarean sections. She had read that Trisomy 18 babies are sometimes too fragile to survive labor and vaginal delivery.

The obstetrician told her no one in the practice would do a C-section. They would not risk Addie's life for a baby they did not expected to live.

Addie needed to find a new doctor.

If people asked Addie why she decided not to end the pregnancy, she would tell them she didn't believe in abortion. She didn't tell them about the other reason, the one that traced back to a Michigan police station 18 years ago.

It was midnight during a chilly October when 3-year-old Addie ran around the station, engaging the officers who fed her crackers and juice as her parents slumped on a bench after a night of drugs.

She didn't want to leave when her grandmother, Joyce Tomkiewicz, came to get her. She never again lived with her mother. When she was 10, Tomkiewicz and her husband moved to Florida and adopted Addie.

In middle school, Addie got into a fight, and Tomkiewicz decided to homeschool her. Later Addie went to the PACE Center for Girls, a school of last resort for teen girls. She dropped out when she was 16.

Over the years, Addie's mother would call, usually from prison, hinting at foods and clothes Addie should send her. Sometimes it was a letter, asking for mail in return or pictures.

Addie stashed the letters in a folder crammed with years of cartoons and cards, in a drawer in her living room.

She kept her diary in a different drawer, in Riley's room.

Oct. 30 — I pray every day that you are coming into this world a happy healthy little girl. I don't know what I would do if anything happens to you. No matter what, you will be in my heart and soul forever.

She would never abandon her child the way her mother had abandoned her.

Ryan got a job at an auto shop. They set up a crib and a bassinet and Addie's belly grew big. On days when she didn't feel Riley move, she worried. She would hold a flashlight to her belly to encourage the baby to move.

Addie bled sometimes. Fearing she was miscarrying, she went to Bayfront Medical Center's Baby Place more than a dozen times. On one trip she was going into labor, so doctors gave her a shot and put her on bed rest. She and Ryan played Monopoly for hours.

As November slid by, she tried hard to keep calm, because she knew Riley could feel everything she felt. She packed a diaper bag.

At every visit she saw a new obstetrician. Each asked if she had researched Trisomy 18. Some seemed to respect her decision, Addie said. Others did not.

"As a Christian, there was nothing they could tell me," she said.

Riley was due on Christmas Eve, but at a visit three weeks before she was due doctors discovered that Addie was producing too much amniotic fluid.

They broke her water to start labor. A monitor recorded a sudden drop in heart rate. The only option to save the baby was an emergency C-section. Two doctors asked Addie if she was sure she wanted to do this. She could die, they reminded her. Addie said she was sure.

When she woke up, she asked for her baby. Nurses would not bring her. Addie, convinced that Riley had died, became hysterical. After 12 hours, a nurse wheeled her to a room. Riley weighed 2.12 pounds. She was hooked to wires and monitors. A nurse handed her to Addie.

She had brown hair, Addie's nose and Ryan's ears.

"She was the cutest thing in the world," Addie said.

Dr. Fauzia M. Shakeel, a neonatologist at All Children's Hospital, talked to Addie and Ryan soon after.

Addie, by now well-informed about potential problems, asked about heart defects and neurological issues. Shakeel told them about the holes in Riley's heart.

"They were mentally prepared for their baby to die," Shakeel said.

Addie and Ryan filled out a DNR form, do not resuscitate. If Riley was going to die, they didn't want her to suffer. No CPR to restart her heart. No tracheotomy to clear an airway. If her heart rate dropped, they would give her oxygen. But that was it.

When Riley was 12 days old, a volunteer who takes keepsake pictures of newborns who aren't expected to live stopped by. She posed Riley in white feather wings.

Doctors said they would release the baby when she reached 4.5 pounds. Addie and Ryan came to visit every day. Addie cried at night in her bed, sleeping with a blanket Riley had been wrapped in.

She pleaded with doctors to release Riley early. If Riley was going to die, they wanted her at home.

Almost two weeks later, she had reached 3 pounds and doctors sent her home with 24-hour hospice care.

In other countries and other times, a child like Riley might not have survived those first weeks, said Riley's pediatrician, Dr. Heinz Chavez. New technology keeps children with Trisomy 18 alive longer. Society bears much of the costs, Chavez said. Addie has Medicaid, which has also covered Riley's costs. That's not uncommon. Three-fourths of children with special needs are covered by Medicaid.

One day in the neonatal intensive care unit runs between $8,000 and $12,000, Chavez said. Medicaid and Suncoast Hospice would cover additional hospital stays for Riley, if needed, doctor appointments, medical procedures, formula and diapers.

Addie and Ryan wondered about the costs, but they have never seen a bill. Addie is relieved that it's paid. Ryan feels guilty and doesn't want to know.

Each Sunday, Addie and Ryan celebrated another week that Riley had survived. By the seventh week, Hospice had dropped its 24-hour care and was coming by a couple of times a week.

On Jan. 22, Riley was getting a diaper change on the couch when she stopped breathing. Her eyes rolled back. She turned blue. Ryan lifted her arms. They fell limp.

He yelled her name and blew into her mouth and nose. Formula came out, but no breath. He blew harder, his mouth covering her face as if he were swallowing her. He tasted her formula.

"I did second-guess myself as she was laying there," he said later. "Was she supposed to die? But I didn't listen to myself. I was definitely not letting my little girl die on my couch."

Ryan pressed on her chest with his thumb — just as he had learned to do watching a video in the hospital — and blew harder.

Riley screamed.

Addie, who had forgotten where her cellphone was, ran into the street in her underwear screaming for someone to call 911. She rode with paramedics to All Children's Hospital. For days, she hovered over Riley as the baby's oxygen levels wavered. Sometimes she was too shaken to hold Riley. She considered antidepressants.

Addie and Ryan reconsidered the DNR order, which Ryan had instinctively disregarded when he brought Riley back to life on the couch. They wrote a new one and posted it at the end of Riley's hospital bed. CPR for no more than 5 minutes, it said. Still no tracheotomy.

Ryan went to the hospital from work every night, tired and sweat-stained, and left every morning.

"Hey, Poppy," Addie said.

"Hey, Memaw," he replied.

For days, Addie didn't leave the hospital. At night, she and Ryan rode hospital elevators, smoked cigarettes in stairwells and played air hockey.

Doctors wanted Riley to breathe on her own before they released her. They could insert a tube into her lungs to help her breathe, but it might do more harm than good for a baby that was only 4 pounds. Ultimately she would need heart surgery, but no one was prepared to discuss that yet.

Even some of the doctors struggled with the tension between what they could do and what they should do.

"Ethically, it's a question of what are the right things to do for this baby," said Dr. Madhumita Ananthakrishnan, a pediatrician assigned to Riley.

"I think it's a slippery slope because if you do the (breathing) tube, do you do a trach? Send her home on a ventilator? We're in a setting where doing more comes very natural to us. This environment is very difficult for a family like this. We love to get people well. I don't think it's right to give them hope."

Every day seemed to be a battle between the percentages that the medical community relied on and the exceptional cases on which Addie and Ryan pinned their hopes.

Addie and Ryan nicknamed one geneticist "the Reaper," because he told them that no matter what, Riley was going to die. Other doctors pointed out some of the physical characteristics of Trisomy 18: Riley's rounded feet, low-set ears and the way her fingers overlapped.

"They gather around her like a science project," Addie said. "She's a human being."

The family was still in the hospital Jan. 29 when Trisomy 18 topped Google's list of search terms. Republican presidential hopeful Rick Santorum had temporarily canceled his campaign events to go home to be with his 3-year-old daughter, Bella, who had been hospitalized with pneumonia, a common complication for children with Trisomy 18.

In mid February, Riley still wasn't breathing on her own, but the doctors chose to release her to hospice care and sent the family home with an oxygen tank.

As soon as Addie and Ryan got back to the trailer, they dragged their couch to the side of the road. They didn't want to live with the reminder of where Riley almost died.

Weeks passed and Addie and Ryan began to relax as Riley no longer needed oxygen to breathe on her own. Ryan carried her through the house, tucked into his arm like a football. He wanted to make her strong, he said.

He was home because he lost his job when the shop owner had no work for him. They get food stamps, but sometimes food is scarce. Hospice paid their electric bill one month. Addie's grandmother paid it the next.

Ryan said their situation was be was beginning to feel like a prison. It's not like having a normal baby that you take out, he said. And Addie, he said, was needy, constantly calling him to help.

Chavez, Riley's primary physician, worried about what the stress would do to them. It can lead to divorce or drug abuse, Chavez said. "Survival for this child would go down fast."

Ryan, he said, has matured in his expectations. Addie, he said, needs time.

That's why he gave them Karen Heaton's number.

Karen Heaton lives 12 miles from Addie and Ryan.

When her son Donnie was born with Trisomy 18, doctors told her to take him home and love him. He would die in her arms.

Donnie is now 19.

He weighs 48 pounds, can sit propped up, smile and recognize the people he loves.

He can't talk or walk or eat. He is like a 6-month-old baby. A perfect baby, Heaton said. He claps during praise and worship at Journey Christian Fellowship Church and when he watches The Price Is Right.

He has round-the-clock care and has been in the hospital more than 100 times.

"It's been hard in some ways," said Heaton, 62. "You just learn to live a different life."

Addie never called her, so one day Heaton took the initiative.

On the phone, Addie asked her if Donnie had been able to hold himself seated upright, as Riley can. She was interested in anything that would suggest Riley was doing better than the doctors had predicted.

Heaton couldn't remember that far back. Her message to Addie and Ryan: "Just love 'em."

Addie wondered aloud one day what scientists really know about Trisomy 18.

"Do you not think the doctors are scientists?" her grandmother chided her. Sometimes, Tomkiewicz said, her granddaughter is naive.

Addie said she's not naive; she just wants to know if anyone is working on a cure.

Dr. John Carey, a geneticist and pediatrician in Utah, gets emails with questions like that every week.

In recent years, Carey has seen new research, including trials with a drug that improves the mental abilities of mice with Trisomy 21 — Down syndrome. This may have implications for Trisomy 18, he said, but he can't yet envision a cure.

Addie filtered out the less optimistic details. "This drug may be able to help Riley."

RECENTLY, Addie held Riley on her bed and stared into her eyes: "You're so beautiful."

At 5 months, she weighs nearly 9 pounds.

One day they will go on a train ride and to the beach, Addie told her. Ryan will take her fishing.

"Maybe these things the doctors say will happen will," Addie said. "And maybe not."

Elisabeth Parker can be reached at eparker@tampabay.com or (813) 226-3431.

About survivors

One Trisomy 18 support group has 38 members around the country who have survived more than a year with the disorder. Two are in Florida. The oldest is a 38-year-old woman in Lindenhurst, N.Y.

On the Web

To learn more about the disorder, visit trisomy18.org.

The facts of Trisomy 18: It's a genetic disorder — but more than that, it's the story of real people, like little Riley and her parents 05/11/12 [Last modified: Friday, May 11, 2012 4:10pm]

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