Only 5 to 10 percent of infants with Trisomy 13 survive to age one
CONCORD, Calif. (KGO) -- ABC7 is committed to Building a Better Bay Area, which includes focusing on your health. For one East Bay couple, the challenge of giving birth during novel coronavirus pandemic was complicated by a high-risk pregnancy due to the baby's rare genetic disorder.
Amanda and Jeff Gilmore of Concord got married in 2018. The couple found out a year later they were going to be first-time parents. But about 16 weeks into the pregnancy, they got news that something was wrong during a doctor's appointment.
"They noticed an omphalocele, which is a birth defect of the abdominal wall where the infant's intestines (and possibly other organs) stick outside of the belly button. We went in to do further testing, and confirmed our baby has Trisomy 13," said Amanda. "Honestly, it was terrifying. I hadn't even heard of it before."
Trisomy 13 is a rare chromosomal abnormality when the thirteenth pair of chromosomes has a third copy. It is associated with physical and intellectual disabilities, heart defects, and even death.
"It's just scary because you know there are billions of people on the planet, so you see all the success cases, all the good stories," said Jeff. "You don't expect to be yourselves to be one of the small percentages of people that come across an issue like this."
According to the U.S. National Library of Medicine, only five to 10 percent of infants with Trisomy 13 survive to age one.
"We wanted to give her any fighting chance that she had," said Amanda, who decided with Jeff to continue the pregnancy despite the unknown outcome.
Having a high-risk pregnancy is challenging enough, but having a high-risk pregnancy during the coronavirus pandemic has been difficult on another level for the married couple.
Jeff has not been able to join Amanda for check-ups.
"Pregnancy brain is real. So when I'm at an appointment, and I'm just distracted by so many things going on. I love having Jeff there to say what I can't vocalize, so it's been tough going to those appointments alone especially since we have a high-risk pregnancy," Amanda admits.
Another impact of COVID-19? Family and friends will not be allowed to visit after the baby is born due to social distancing precautions.
"If her time is limited, we couldn't have family there with us. She may never meet aunts and uncles, and grandparents," she said.
Dr. Timothy Leach is an Obstetrics and Gynecologist at John Muir Hospital in Walnut Creek. He says the hospital is taking extra safety measures because of coronavirus.
"All staff, all clinical, non-clinical patients and the support persons are being screened with COVID-19 questions. They're being hand sanitized, and they're getting their temperature screened before they're allowed in the hospital," he said.
He says the hospital has secured sufficient Personal Protective Equipment to allow everyone entering the hospital to universally wear masks. He says a new mask is given everyday to non-clinical support staff, doctors, nurses, patients and their support person.
Dr. Leach also says throughout the day, employees are scrupulously washing their hands, and environmental services are thoroughly cleaning surfaces throughout the hospital.
In his 20 years at John Muir, Dr. Leach has delivered babies with down syndrome (Trisomy 21), but not Trisomy 13. However, the hospital is prepared. "We oftentimes consult with our neonatologist ahead of time, so the neonatologist can be aware of that baby or their special needs, even to attend their birth," he said.
One day after our initial interview, Amanda, who tested negative for COVID-19, was brought in for an emergency Caesarean section.
During the high-risk labor and delivery, she said about a dozen doctors and nurses were in the room. "Since it was high-risk, they had every position there. Jeff, my OBGYN, along with another OB for the actual surgery, the NICU nurses, the labor and delivery nurses, the neonatologist, and the anesthesiologist," she said.
The couple welcomed baby Riley to the world weighing in at four pounds, two ounces, and measuring 17 and-a-half inches.
"So when we were in the NICU, her second day of life was probably the most dicey where she was having these apnea episodes every 10 to 15 minutes for seven hours. We thought that was it. I was just sobbing," said Amanda.
Despite the scare, the couple said hospital staff took care of them and were like family, especially when visitors were not allowed.
After three weeks in the NICU, Riley finally went home.
"It was really scary, but really exciting," they said.
To help prevent Riley's apnea episodes, she receives oxygen through a nasal cannula to keep her airway open and remind her to breathe. She also eats through a nasogastric feeding tube to ensure she's getting all of the nutrients she needs to grow.
"Simple things like the common cold can often be deadly, we have to manage that. And you throw COVID on top of this," said Jeff.
Riley is home on concurrent hospice care, where a hospice nurse visits the home to check-in on Riley twice a week.
Prior to the birth, Amanda and Jeff were worried loved ones would not meet Riley. But with safety and COVID-19 precautions in mind, they said "we have friends and family meet through our sliding glass doors, which we're thankful to have. So they can get up close and personal, and see her there through the door," said Jeff.
As for what's next for the Gilmores, they said "just continuing to enjoy our time with her, every day is a gift."
Amanda says any parent who receives a Trisomy 13 diagnosis during a pregnancy may feel isolated, but after talking about it with family and friends, the new parents were amazed by the love and support they receive. And they say Riley is a fighter.
You can keep up with Riley's journey through Amanda and Jeff's online journal here.
RELATED STORIES & VIDEOS: