Penguins games therapeutic for Carnegie toddler with rare gene mutation
Gathering around the television in the living room for sports is an experience many Western Pennsylvania families share, but for the Kramer family from Carnegie, watching Penguins hockey together means so much more.
When 3-year-old Hunter Kramer hears the distinctive music, he recognizes the Root Sports telecast of a Penguins game is about to begin.
Hunter, who cannot walk, talk or see most things because of a rare gene mutation, shifts positions in his wheelchair. His eyes dart toward the television. He raises his arms and verbalizes his excitement with sounds his parents, Beth and Brent, identify with contentment.
“He's definitely in a different mood when hockey's on the TV,” said Beth Kramer, 29.
The gene mutation, called GRIN1, is so rare that his treating physician, Amy Goldstein at Children's Hospital of Pittsburgh, said she's aware of only five other cases worldwide.
The mutation causes a condition in Hunter called cortical visual impairment, or CVI. It essentially means that his brain struggles to comprehend what his eyes see.
Hunter's visual therapist, Eric Jerpe, recommended he watch hockey because of the stark contrast between the white ice and the players' colorful jerseys.
So the Kramers make every Penguins game a family event. They cheer together. They yell and scream at the TV. They do their own chants and celebrate with high-fives when the Penguins score.
“It's really a special time for the three of us,” said Brent Kramer, 32. “Beth and I are into the game. When we're excited, he's excited. There's a real connection there.”
Watching the game, Beth and Brent talk to Hunter constantly, and they try to encourage the team when the Penguins aren't doing well.
“I love chanting with him,” Brent said. “When the Pens really need to get moving, I'll grab his arms and say, ‘Let's go Pens. Let's go Pens.' He'll start smiling and laughing because he really likes to move. He can't move a lot on his own, but he likes it when people help him move.”
To prove the point, at the first intermission, Brent guides Hunter through a rendition of Sly & the Family Stone's “Dance to the Music.”
The prognosis for Hunter isn't entirely clear, though Goldstein said it's “very unlikely” he will learn to walk and talk.
“As far as lifespan, I don't think we have enough information about it yet,” she said. “There's still a lot to learn.”
What's happening, she explained, is that the mutated gene sabotages one of Hunter's glutamate receptors — neurotransmitters that control brain and muscle function.
“The transmission in his nervous system is basically not working well,” Goldstein said.
Hunter's other symptoms, according to Goldstein, include epilepsy, low muscle tone, several gastrointestinal tract issues and frequent vomiting because of a laryngeal cleft, essentially an extra piece of skin in his throat.
When Hunter was born, his parents knew something was wrong.
Yet they didn't receive an actual diagnosis until Oct. 27 , when Goldstein confirmed the GRIN1 gene mutation.
Because the mutation is so rare, the doctor ran out of available testing options. She contacted an Arizona-based company with which she works — Translational Genomics Research Institute, or TGen — for a whole exome sequencing (WES) test.
That allowed Goldstein to examine all of Hunter's neurological functions, instead of one at a time.
“It's hard to know how many kids have this problem,” she said. “It's not easy to test for.”
Although both of the Kramers are elementary school teachers, their best work is done at home while caring for Hunter.
Hunter attends the Western Pennsylvania School for Blind Children in Oakland and learns interaction with a talk-back button that plays recordings from his teachers and parents, explaining what he has done.
Toys purchased for tactile and visual purposes are separated into bins. The Kramers utilize slap bracelets because of the color and cause-and-effect created.
They've found “Sesame Street” characters are great for Hunter — bright, bold simple colors.
Nothing, though, has helped as much as hockey.
“CVI affects the way he processes information that he sees,” Jerpe said. “Hockey is movement against a high-contrasting background. The majority of teams have dark blue or black jerseys against a white background. That contrast, with the movement, helps stimulate a visual response.”
For Halloween, Hunter went to school as a Zamboni ice resurfacing machine.
Brent cut up an old refrigerator box and attached it to his son's wheelchair with pieces of PVC pipe. Beth painted it, including a logo on the hood. There are even two stick-on lights as headlights.
Beth and Brent accompanied Hunter while dressed as members of the Penguins Ice Crew.
Hunter met Penguins forward Pascal Dupuis at The Mall at Robinson last year, and pictures of their encounter are in a shadow box that Beth made for him, along with a Penguins hat.
The family wore Penguins gear for last year's Christmas card photo. When Hunter had to wear a cranial remolding orthosis, the couple treated it like a hockey helmet, adding logos on the front and back and a sticker with Hunter's birth date on one side.
They've taken him to dek hockey games and youth hockey practices for cousins, but tickets to a Penguins game are too expensive or too difficult to come by.
Hunter attended two baseball games.
“I don't know what it is about crowds; I guess because of the noise and excitement,” Beth said. “... Each time, as soon as we got close to the stadium, he just starts smiling and laughing. He loves it.”
That's how Hunter reacts when it's a hockey night in Pittsburgh and he hears the familiar sounds.
“Hockey is a thing that's huge in our family,” Brent Kramer said. “We try to give him all the experiences that we can.”