If Karina and Travis Peters’ genetic makeups were paragraphs, they’d have the same misspelled letter.
That’s how they said a doctor at Penn State Milton S. Hershey Medical Center explained the reason for their 5-year-old daughter Olivia’s rare genetic disorder — pontocerebellar hypoplasia.
Originally, doctors told them that Olivia had cerebral palsy, which has a lot of the same characteristics.
But they were persistent in finding answers, Travis Peters said, and that led them to Hershey for whole genome microarray testing.
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All four family members — including 10-year-old sister Sofia — were tested, Karia Peters said, and that’s how Olivia was diagnosed with PCH in April 2015. They were only the eighth family approved for the testing at Hershey.
It’s a terminal condition that affects her brain’s ability to communicate with her fine and gross motor skills and speech, Karina Peters said.
Olivia is “very spunky,” Travis Peters said.
“She’s got a lot of life in her,” Karina Peters said. “She’s funny.”
Sofia said she and Olivia play babies, but, like many siblings, they don’t always agree on how to play.
Olivia loves her iPad, sometimes choosing it over playing with her sister, Sofia said, laughing.
In the spring, Olivia got a motorized wheelchair. (The first time she tried one out, her dad said it was “amazing” to see how quickly she was able to figure out what she could do.)
It has pink on the base, one of her favorite colors, and a license plate with her name on it.
And she’s a pro at driving it.
“It’s great,” Karina Peters said. “She loves it. It’s literally her legs.”
Travis Peters said it’s given her independence and the ability to move on her own.
During the past few months, Olivia, now a kindergartener at Easterly Parkway, has been cheerleading — doing the routines in her wheelchair, Karina Peters said.
“To be able to see how much more she can thrive because of it has been pretty cool,” she said.
The wheelchair has given Olivia more freedom — but she can’t use it everywhere.
A wheelchair accessible van transports Olivia to and from school, but the family has an SUV and the wheelchair takes up most of the back.
Getting it in and out of the car is a challenge, even with ramps, Karina Peters said, and she worries about accidentally clipping Olivia’s feeding tube when moving her into her car seat.
Unless they absolutely have to take the wheelchair, they usually leave it behind. When they’re traveling with Olivia, they need room to pack her medical supplies.
“She doesn’t only have the physical limitations, but she has a lot of respiratory issues and she’s on a feeding tube,” Karina Peters said.
The family wants to purchase a wheelchair accessible van of their own — but the price is steep at $50,000 to $60,000.
Banks will only finance the vehicle, not the adaptation to make it wheelchair accessible, Travis Peters said, which is about $25,000.
So they decided to start a GoFundMe campaign to raise money to put a down payment on a van. As of Wednesday, 79 contributors had donated $5,500 of the $10,000 goal.
“It’s been amazing,” Karina Peters said. “You don’t realize how much your community can rally around you till something like this happens.”
But it’s not the last cost the family will be faced with, Travis Peters said. Adaptations are needed in their home, too, to make it wheelchair accessible.
Olivia’s condition is degenerative, meaning that she loses capabilities she once had, Travis Peters said.
In January, she got sick.
“She never bounced back to where she was prior to that,” he said. “She was in the hospital for a week. Every time she gets bad sick like that, she never comes back to baseline. It’s always just a step below.”
Because PCH is so rare, he said, research on it isn’t funded well.
Olivia goes to therapy twice a week in State College and once a week in Altoona. The family also travels to the Children’s Hospital of Philadelphia, sometimes three or four times a month. They’ve also traveled to see a specialist in New York.
And Olivia’s case is on the milder side, her dad said, explaining that most children who have PCH don’t live past infancy.
Both Travis and Karina’s parents live nearby — the couple moved back to the area from Carlisle when Olivia was diagnosed for family support, Karina Peters said.
At home, Olivia has a day nurse and a night nurse. She doesn’t really cry or throw tantrums, except when a new night nurse starts — which Travis Peters referred to as “initiation.”
She can be a little “mischievous,” Karina Peters said, with a laugh.
“Today, she took a cap from one of her medications, and she could tell her nurse was going around the house like crazy looking for this cap,” she said. “She had it in her hand, just hiding it. And she was laughing. Finally, the nurse said, ‘Do you have it in your hands?’ And she just busted out laughing. She thought it was hilarious.”
Olivia’s a happy child — always smiling, her mom said.
On the web
▪ To make a donation toward helping to fund Olivia’s wheelchair accessible van, visit www.gofundme.com/olivia-wheelchair-accessible-van.
▪ Learn more about pontocerebellar hypoplasia at rarediseases.info.nih.gov/diseases/10704/pontocerebellar-hypoplasia-type-1.