Hempfield infant fights rare disease
Like any parents, Haley Flores and Matt Hoffer are planning for their son's future.
But 4-month-old Sage's immediate needs will come in the form of medical bills, not college tuition.
“We were already told he wasn't going to live past 2,” Flores, 23, said. “How much worse can it get?”
Medication, special food and other expenses not covered by insurance are on the horizon for the Hempfield couple and Sage, who was diagnosed with GM1 gangliosidosis, a rare genetic disorder that destroys nerve cells in the brain and spinal cord.
According to the National Institutes of Health, the infantile form of the disorder is the most severe and involves a regression of development. Children who inherit the disorder are susceptible to vision loss, seizures and an enlarged liver or spleen.
The family is traveling to the University of Minnesota in May to participate in a clinical trial, Flores said.
“I would rather him to live a happy, short life than a long, miserable life,” she said.
It was an ordinary pregnancy.
Sage had enlarged kidneys, but it might be nothing, doctors told the couple.
He was “less than 24 hours old” when they were dazed as a specialist pronounced the long disorder name and Sage's quality of life became an issue, Flores recalled.
“It was really hard to process, because he was this beautiful baby, and it didn't seem like anything was wrong,” she said.
“I didn't know what to think,” Hoffer, 24, said.
An official diagnosis came when Sage was about 2 months old, and Flores dove into researching the genetic disorder that could result in her son being unable to use his arms or legs. He might need a feeding tube or oxygen, and seizures could start in a couple months, she said.
“It's hard because there's not a baseline to go off of,” she said. “So, it's kind of just like let's hope for the best.”
Flores is “hopeful, but realistic” about her son's chances. She switched her work schedule to waitress on weekends, giving her more time to spend with Sage.
Hoffer works overnight and sometimes has difficulty making it to all of Sage's doctors' appointments.
“It's kind of tough,” he said.
Sage's weeks are filled with 90 minutes of physical therapy — which he usually hates, Flores said — and a couple days spent at Children's Hospital of Pittsburgh.
“I think it's totally changed our perspective on how to handle things in life,” Flores said.
Some community help is on the way for the family. A fundraiser for Sage's medical expenses is planned for Saturday, and 330 tickets have been sold in advance, said Sage's grandfather, Lou Flores. More tickets will be available at the door.
Sage is his first grandchild.
“I don't look at the end,” Lou Flores said. “I'm enjoying it right now.”
Renatta Signorini is a staff writer for Trib Total Media. She can be reached at 724-837-5374 or email@example.com.