PROVIDENCE — For all 17 months of her life, Yarielis Paulino-Pepin has only known the warm nest of a hospital room, where gentle lullabies tinkle amid the hum, swish, and beeping of machines keeping her alive.
She was born into the pandemic with a heart defect and a rare genetic disorder that left her so weak, sick, and limp that she was unable to breathe or swallow. It was months before her parents heard her cry. She has never felt the wind ruffle her dark, curly hair. She has never felt a raindrop, heard birds in the trees, or gazed up at the moon. Her siblings have never been able to cuddle her.
But now, Yarielis is going home.
It is the day her parents have waited for, the day Yarielis would leave Franciscan Children’s Hospital in Brighton. When she hears her parents calling her name, Yarielis drums her chubby legs on the mattress of her crib. She wriggles in her onesie and rolls over, lifting her head, her face turning from her father, Danny Paulino, to her mother, Aris Pepin. She sticks her tongue out and grins.
“Hello, Daddy’s here!”
“Who’s here? Mama! Did you miss Mami?”
The couple swoop in and lower the sides of the crib, reaching past tubes and monitors to kiss her and tickle her cheeks.
Boston Children’s Hospital saved Yarielis’s life and diagnosed her condition, performing open heart surgery and installing tracheostomy and gastrostomy tubes. Then, for more than a year, the medical staff at Franciscan Children’s gave Yarielis every type of early intervention and therapy available.
Through it all, her parents spent every day on the road back and forth between their home in Providence and the hospitals in Boston, juggling care of four other children in their blended family. Both worked for the Rhode Island Public Transit Authority but were unable to continue; keeping their family strong through the distance and uncertainty became an all-consuming, full-time job. Their older children wondered if they’d ever meet their baby sister, as COVID restrictions prevented them from visiting her in the hospital.
Months ago, when it seemed impossible, her mother made a wish for Yarielis to be home for Christmas. Then, the little girl began to gain strength. The nurses at Franciscan saw her happy and loving personality begin to blossom.
On Wednesday, a few days before Christmas, her mother’s wish came true.
Her pregnancy had gone so well. And then, at 36 weeks, Aris said, her doctor diagnosed her with polyhydramnios, an excessive accumulation of amniotic fluid, and determined the baby had an abnormal heart.
A few days later, on July 20, 2020, Aris gave birth to Yarielis. She could barely breathe. Yarielis was immediately intubated and rushed to Boston Children’s.
When Aris and Danny finally saw Yarielis again, her tiny 6-pound, 2-ounce body was under a tangle of tubes and wires, her small face half-hidden by the intubation.
No one knew why Yarielis was sick. Her parents were distraught. Aris sought solace at the hospital chapel, praying for her daughter and begging forgiveness for whatever she might have done to cause her baby to be sick. “I said, ‘sorry’ to God a thousand times, maybe I did something bad in my life,” Aris said.
It was no one’s fault. After extensive genetic testing, Yarielis was diagnosed with Kabuki Syndrome, a rare congenital disorder that affects many different organ systems.
The name comes from the distinct appearance of people with the disorder, as if they are wearing makeup used by actors in Japanese kabuki theater, which emphasizes wide-set eyes, highly arched eyebrows, a small jaw, and a flattened nose. The disorder delays growth and causes a broad spectrum of intellectual disabilities or delays, heart problems, low muscle tone, difficulty swallowing, and immune deficiency.
Dr. Olaf Bodamer, director of the Roya Kabuki Program at Boston Children’s Hospital, reassured Aris and Danny. This is not typically an inherited disorder: it is caused by a spontaneous change during pregnancy that affects about 1 in 32,000 births worldwide.
The genetic condition is nearly nonexistent in people of Caribbean descent, such Yarielis’s parents, who are Dominican. While there are 500 to 600 people diagnosed with Kabuki Syndrome in the United States, Bodamer said there could be more who have not undergone genetic testing.
While there is no cure for Kabuki Syndrome, children can show development over time, and there is hope for drug therapies on the horizon that could help improve learning and overall development of muscle tone, Bodamer said.
Yarielis happened to be in a place where her genetic disorder was recognized and where a team of specialists could help her family care for her.
The National Organization for Rare Disorders, or NORD, recently designated Boston Children’s Hospital, Massachusetts General Hospital, and Brigham and Women’s Hospital as one of its Rare Disease Centers of Excellence, making them part of a small network of cutting-edge facilities that offer specialized care and disease management for people living with rare diseases.
While patients with Kabuki typically do not require 24-hour care, Yarielis has a more extreme case, Bodamer said.
She was diagnosed with a critical congenital heart defect called tetralogy of Fallot, and needed open heart surgery when she was a month old. Constantly on a ventilator, she received a tracheotomy at two months old. She has eye abnormalities known as coloboma; they don’t know yet what she can see.
Over time, Yarielis has begun to gain strength. The doctors have told her parents that her heart is working well and that the tracheostomy will not be permanent. It is giving her time to get strong enough to breathe on her own.
Her parents call her their “Kabuki warrior.” And they turned to each other to help her fight.
“It was heartbreaking at the beginning,” Aris said, “but it’s a process.”
“We pray together every night. We both get on our knees right before bed and hold hands,” Danny said. “And we talk to God and say, ‘Give us strength.’ ”
Aris and Danny sought out other families, to learn what was ahead for them and their daughter. They found people on Facebook, where they could talk about medications and therapies, and how their children were progressing.
Aris also used her TikTok channel, @yourrealfantasy, to document Yarielis’s journey with photos and videos, hoping to inspire other families of children with special needs. She wanted people to see that children like Yarielis can be happy and loved; her followers grew to more than 250,000.
But some commenters have been cruel. “I’ve seen many people telling me on social media, ‘Why do you expose your daughter? You shouldn’t expose your daughter. How can you enjoy life exposing your daughter when she’s suffering?’ ” Aris said. “She’s not suffering. I just explain to people that I don’t need to hide my daughter just because she’s disabled. I’m very proud of my daughter.”
Later, alone with Yarielis during one of their last nights at Franciscan Children’s, Danny admitted his fears.
Here, all Yarielis has ever known is love and acceptance. But the world, as beautiful as it can be, is also a hard place, he said. Will other people see that she is lovable? Will she be bullied or rejected?
“We bring them into the world, you know, they don’t ask to be born. So it’s our responsibility to raise these children and care for them, no matter what age they are,” Danny said. “You know how cruel this world is, but it’s your job to protect them and take away all the negativity and always surround them with a positive attitude.”
Before Yarielis could go home, the staff at Franciscan Children’s taught Danny and Aris every step of her care — how to use the ventilators, the oxygen tanks, the monitors; how to care for the tracheotomy and gastrostomy; how to administer her medication and milk around the clock and trouble-shoot alarms.
Finally, each parent had to stay at the hospital for 48 hours, solo, to show that they could handle everything Yarielis could need.
They barely slept, but they passed the test. “When you are keeping your baby alive, you will do anything,” Danny said.
As they packed up the room, Danny and Aris took final instructions from their case manager, social worker, and nurses. They signed discharge papers.
Aris was suddenly overcome. “I’ve been waiting for this day for so long,” she says. “This is tears of happiness.”
She dressed Yarielis in a pink-and-white sweater with a matching hat and boots. She cut the toe of the leggings to fit the monitor that tracks Yarielis’s heart and oxygen, and covered her in a pink-and-white quilt handmade by her grandmother.
Nurse practitioner Stephanie Hopkins cuddled Yarielis for the last time. “Her parents are as ready as they can be,” Hopkins said. “It’s exciting to think of her at home with her siblings and to see her home for the holidays with her family, something that people take for granted.”
The baby smacked her lips, her way of blowing kisses. “Are you going to miss everybody?” Aris asked her.
As the EMTs wheeled Yarielis out of her room, nurses and staff cheered, waving bubble wands in the hospital’s traditional “bubble parade” for children who are discharged. Yarielis passed by with her right hand raised like she was the queen of England.
“God bless everyone,” Danny said to every person he passed. “Thank you for everything you guys did.”
Yarielis’s uncle, Abel Pepin, and her brothers Dionyanny Paulino,17, and Jossem Peña-Pepin, 13, had just finished taping balloons and a welcome banner across their front porch when the ambulance from Boston pulled up to their house in the Mount Pleasant neighborhood of Providence.
Yariel Paulino-Pepin, 3, barely waited for the EMTs to open the ambulance doors before he bounded inside. Jasleen Pepin, 5, danced, waiting to see her sister, and shouted: “She’s so cuuuute!”
Mother and child emerged carefully from the ambulance, accompanied by EMTs carrying medical equipment. Aris carried Yarielis up the steps and into the house, and placed her into the large gray crib that had been ready since before she was born.
Large plastic flowers and letters spelling “Princess Yarielis” decorated the wall over her crib in the living room. The ventilators, IV stands, oxygen tanks, shelves of medical supplies, a shopping bag filled with medication, and a new refrigerator to store them — everything was ready for the littlest child.
“Welcome home, princess,” Aris said.
Then, as Aris and Danny bustled about with the medical machines under the supervision of a respiratory therapist, the two younger siblings clung to the crib railings to get as close as possible to their baby sister.
They touched her nose and her chubby hands, showed her toys, and tried to make her smile. They squealed when she grabbed their hands and kicked the crib railing. But, when Yarielis suddenly turned red, opening her mouth in a silent, tearful yowl, the children screamed for their mother to help her.
Aris calmly dealt with the ventilator alarm and suctioned Yarielis, who quieted. The children crept back to the crib railings again. They plinked on a toy xylophone, mimicking the sound of her alarms. They took turns with their mother’s stethoscope and listened to each other’s hearts.
All they had known of Yarielis were photos and videos, and their parents’ explanations about the baby’s illness. Boston Children’s Hospital had produced a special book for them about Yarielis and her condition. Now, here she was, and no matter how many times their parents and older siblings pulled them away, the two children could not resist her. They were not afraid. They were enthralled.
At last, when the wires and tubes were untangled, the machines were humming, the first round of medication successfully administered, when they’d changed her diaper and removed her warm sweater, Aris and Danny paused at the crib and took in the sight of their youngest daughter. Yariel joined them.
Propped up against a curved pillow, Yarielis gazed up at them. She was in her own home, with her family, for the first time in her life.
They don’t know what’s ahead for Yarielis, but right now, for the first time in 17 months, they are all together.
“You know that you are home, baby,” Aris cooed to her baby daughter, who smiled back. “You know that you are home.”