CHARLOTTE, N.C. (WBTV) - Imagine having a child with a genetic disorder so rare… less than 500 people in the world live with it.
Now imagine TWO of your children are part of those 500.
That’s reality for Eric and Tarah O’Sullivan in Greer, South Carolina. Two of their five children live with NKH (Nonketotic Hyperglycinemia). This means Vivian, their youngest at 4-months-old, and Drake, the second youngest at 3-years-old, both have bodies that don’t make the enzyme that breaks down glycine.
If their glycine levels skyrocket, they’ll have uncontrollable and dangerous seizures.
Tarah said the diagnosis came out of nowhere. Drake was born on a Thursday –visibly happy and healthy. But Sunday, however, he lapsed into a coma in PICU at Greenville Memorial Hospital, Greenville, South Carolina.
He was there a month.
“Our household became an around-the-clock host for tests and medicines to help Drake,” said Tarah. “His diagnosis prompted me to go back to school to understand everything about NKH. I wanted to learn the science behind my son’s illness and increase any likelihood of discovering a cure. I enrolled in the College of Science at Clemson University to work towards a degree to save his life.”
Fast forward three years, and the birth of Vivian.
After birth, she was diagnosed with NKH.
“But with Vivian,” Tarah said. “I now have years of experience monitoring Drake. I’ve been able to compare milestones and symptoms against one another. I’m able to work with that information when deciding to administer treatments.”
The downside? Vivian is still young. She can’t control her seizures very well yet because of her age.
“...But she does have really good muscle control as a 4-month-old,” Tarah said. “We just don’t know her as well as Drake.”
Tarah said she continues to use trial and error as the primary method of care giving. With less than 500 known cases, Tarah says she could be learning the best treatments inside her home.
“We feel less overwhelmed with Vivian,” she says. “We want to help all the families in this fight against NKH. I’ll go to any extraordinary length, and am also happy to share whatever I’m finding with anyone else.”
Maybe the right person (Doctor? Scientist?), will see this.
Thank you, Tarah, for sharing your family with us.
**Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.**