“I can’t remember something this incredible happening in the last ten years or so of my career,” says Stacey Peterson-Carmichael, MD, a pediatric pulmonologist at Atrium Health Wake Forest Baptist Brenner Children’s Hospital. “We have a lot of great things happen at Brenner, but this was a special one for sure.”
The incredible story was that of Layne Baker, an infant who created a big medical mystery last winter. Last January, when Layne was two months old, he had a viral illness. But suddenly, he grew limp and pale. Layne could no longer suck, he couldn’t swallow and he needed help to breathe. He became completely quiet, with not enough breath to laugh or cry. Layne had two long admissions in the pediatric intensive care unit (PICU) at Brenner Children’s Hospital, along with two times on a ventilator, but his diagnosis remained frustratingly out of reach.
During his first admission, Layne had a panel of genetic testing performed to look for the most common genetic conditions that could cause these symptoms. His results didn’t reveal signs of any. Layne was referred to the Declan Donoghue Collaborative Care Program, which supports medically complex children who don’t yet have a diagnosis. The program coordinates the work of multidisciplinary specialists as they seek a diagnosis and create treatment plans. In addition, it supports the needs of the children’s families, both during and after their hospital stays. Krista Ennis, a nurse coordinator with Declan Donoghue Collaborative Program, met with the parents to learn more: about the family’s medical history, about Layne’s personality and about their parental goals. The entire medical team learned about Layne through the words of his family.
As all specialists on the team simultaneously pursued work in seeking a diagnosis, Tamison Jewett, MD, a pediatric geneticist at Brenner Children’s Hospital, sought further genetic testing. During his next admission, she ordered a rush on whole exome sequencing (WES) of Layne and his parents. WES searches an extensive amount of disease-causing genetic variants to identify potential causes of congenital disorders. These results were a game-changer. The tests brought the Baker family a diagnosis – a rare condition called congenital myasthenic syndrome type 11 (CMS11) – as well as a treatment plan. Within just days of starting treatment, Layne was rolling over, laughing, crying and doing everything a baby should be doing.
“The first time he giggled, we learned that this is what our baby is supposed to sound like,” Megan says. That first night when Layne cried, it was the best sound she and Derek ever heard. Since then, he’s continued to giggle and cry and make noises. “We’ve gotten to hear those vocal cords many, many times since,” she laughs.
A Little Baby with a Big Care Team
It takes a big team to care for a little baby with a difficult diagnosis. At Brenner Children’s Hospital, Layne had a large multidisciplinary team of specialists who collaborated to care for him and to find a diagnosis.
“Layne was cared for by the PICU team, the pulmonary team, the neurology team, the infectious disease team, the ENT team, nutritionists, pediatric surgeons and geneticists,” Jewett says. “What makes that kind of collaboration happen is a combination of expertise and communication.”
The collaboration across specialties meant that experts representing many disciplines could come together to search for Layne’s diagnosis. When the initial search didn’t reveal common conditions, the team then searched for more rare ones. At this point, Layne’s parents admitted they weren’t sure if the known would be less scary than the unknown.
“When Dr. Peterson-Carmichael wanted to do more genetic testing on Layne, we were scared,” Megan, Layne’s mom, says. “You can get a result that’s not treatable.”
But Peterson-Carmichael encouraged them, telling them that they could find a condition that had an effective treatment. Even if genetic testing revealed a condition without a treatment, the hospital could continue to help them, connecting the family to specialists to treat symptoms and even with other families who faced similar diagnoses. Either way, finding an answer is an important step for a family to move forward with the right support team.
The Bakers got the best kind of answer: a genetic condition that had an effective treatment.
An Extended Family in the Hospital
Megan said that the family’s most challenging time was between Layne’s first night in the hospital on January 5 until his diagnosis on May 11. In between those dates, she and Derek, Layne’s dad, had church friends and family members who offered support beyond the hospital. Within the hospital, they had an extended family within Brenner Children’s Hospital who offered support, too.
“It’s hard to sleep when your child isn’t doing well, but we pretty much slept every night. It was because after all that time in the hospital, we knew almost all the nurses,” Megan says. “They all cared. There were so many nurses who made it easier to breathe during a time when it felt that breathing wasn’t possible.”
To create a semblance of normalcy during hospital stays, nurses offered special touches. Megan had a birthday while Layne was in the hospital, so nurses made her a birthday card with a flower on the front, and each petal was a fingerprint of Layne’s. When Megan was there for Mother’s Day, the nurses created a Mother’s Day sign for her that was decorated with Layne’s footprints. Megan laughed when she remembered how two nurses would pretend to argue over which one of them would get to cuddle Layne first when he felt better.
“Some of these families are in the hospital for days, weeks, months at a time. When the wonderful nurses and child life specialists do little things like that, it can make all the difference to these families,” Peterson-Carmichael says. “That’s why these parents can rest – they know this team is invested in their child.”
Together, Celebrating Layne’s Future
As the Baker family celebrates Layne’s renewed health, the Brenner Children’s Hospital team celebrates with them. The good news is that Layne doesn’t have to come to the hospital much anymore, and the even better news is that Megan and Derek keep everyone updated about how well he’s doing at home.
“One nurse who cared for Layne every weekend told us that Layne was a completely changed baby and that he could finally show us what he’d been holding in for so long,” Megan says. “I just want them all to be my friends because they took such good care of us.”
Layne will continue to receive care from pulmonologists and neurologists at Brenner Children’s Hospital as he manages CMS11. His entire care team continues to cheer him on, as they watch Layne’s transformation from a sick infant to an active, giggling baby.
“There’s no greater gift than seeing a baby heal like this,” Jewett says. “I’ve worked in genetics for 31 years, and fortunately, we’re finding more and more treatments for genetic conditions all the time. It’s just wonderful. And the Baker family is just remarkable. Throughout it all, they were incredibly present, upbeat and hopeful.”
Learn more about multidisciplinary care at Atrium Health Wake Forest Baptist Brenner Children’s Hospital.
