Family of boy with rare genetic disorder thankful for care at Primary Children’s

SALT LAKE CITY — When a child has a diagnosis of a disease that is life-threatening or brings with it uncertainty about how long the child will survive, Primary Children’s Hospital creates a palliative team — a group of professionals to care for every aspect of that child’s life and his family as well.

With a big smile and a clap of his hand, anyone can tell that Emmett Bleyle is a lively, happy 5-year-old. His parents will tell you that every day of his life is a gift.

“He goes through things that I couldn’t even imagine going through, and he handles it with such a grace,” Rylie Bleyle, Emmett’s mother, said.

When he was just 2.5 months old, Jace and Rylie experienced several anxious days at Primary Children’s Hospital. And then came the shocking diagnosis.

Jace, Emmett’s father, explained, “You got a whole mess of things affecting pretty much his whole body — from his brain, to pancreas, liver — just because of that process isn’t working right. I mean, 70 to 80% of the kids that they know about with the diagnosis don’t make it past one. So, she was devastated. I was devastated.”

Emmett has glycosylation, a rare genetic disorder. There are only about 1,200 cases in the world — 200 in the U.S. and only Emmett in Utah.

Speaking of the research their doctors had to do, Rylie said, “And there was a really big learning curve for us, but also for our doctors, trying to take care of us and trying to give us answers. We had so many questions, and you know, very, very few answers.”

They say they have lost count of how many times doctors and nurses at Primary Children’s saved Emmett’s life.

He cannot walk or speak and needs a feeding tube. Everyone who meets him feels his enthusiasm for life.

“He has lit up the room since he was a baby. He is affectionate. He wants to be with people. He’s very, very social,” said Jamie Seale, a nurse practitioner.

Seale has been caring for Emmett since he was a year old.

“We like to make sure that the children have the best quality of life that they can, that they really can experience the joy and happiness that all children really should have,” Seale said.

She is a member of the Palliative Care Team, which meets the needs of the child with an unknown life expectancy and his or her family. This group includes doctors, nurses, child life specialists, social workers and a chaplain.

“And so, we have to support those families, those parents, because they are the voice of their children, and they are the ones who have to make these incredibly difficult decisions. And we don’t want them to have to do it alone.”

During COVID-19 and isolation, the PCH team was there for the Bleyles.

“They have that saying that ‘not all heroes wear capes,’ and I totally believe that being in the hospital at Primary Children’s,” Jace said.

“And they’re the ones that are like, there to kind of, to pick your pieces up. Because you can’t do it yourself, you know, and so they literally are second family,” Rylie said.

Emmett is thriving, his parents say.

Rylie described what people say about her son, “There’s something about him that people are just like, ‘He sees into my soul.’ Right, you know, like, he looks at, and you know that, like, he can’t talk to you, but he understands you.”

They credit the remarkable medical team and the care that he receives from the hearts of Primary Children’s professionals.

With tears streaming down her cheeks, Seale said, “So we want to focus on that whole family and that whole child. We want to make sure that they have as much joy as possible.”

Joy is the word his nurse and his parents use to describe Emmett. It is, they say, what they want for him and what he brings to the world.