Family of daughter born with genetic disorder fights for new state law
RUSSELL COUNTY, Va. - It turns out Ruby Kate Leonard may have been given the tools to fight the battle against a rare genetic disease simply because she was born in Bristol, Tennessee. Since she was born this summer, it has been a tough battle with her hometown of Lebanon taking up a fundraising cause known as the Fight for Ruby Kate.
Ruby Kate was born a happy baby July 13.
Her father Elijah said, "She loves to be held. She doesn't like to be laid down. If you'll hold her, she's perfect fine with that. Initially, she was a really, really happy baby. She smiled all the time."
The family, from Russell County, crossed the state line into Tennessee when Ruby Kate was born at Bristol Regional Medical Center. Then, the family got a call nine days later from the state of Tennessee saying Ruby Kate had an abnormal reading on a newborn screening for a genetic disorder. It turns out Ruby Kate tested positive for MPS I, known as Hurler Syndrome, a disease that affects the organs and skeletal system. Most symptoms do not even show up until a child is at least 6-months-old.
Elijah said, "If we would have had her in the state of Virginia, she would be at daycare right now with my three-year-old and we wouldn't know a difference."
It was just 12 days before Ruby Kate was born that Tennessee started mandating the screening for the disease, which can be life-threatening. It is among 60 conditions Tennessee now mandates for newborns. Virginia only tests for 29 conditions.
"It's a blood test that all newborns have. So, if they test positive, many times, intervention can be done and they can save them and they can be normal or near-normal people," Dr. Tom Makres, a pediatrician, said.
Because Ruby Kate's condition was caught early, the Leonard family was able to get her into treatment. At just 3 months and 13 days old, she had a stem cell transplant at Duke University.
"It's really amazing how resilient she is," Elijah said.
With Ruby Kate still in medical treatment, the family says they have set a goal for the sake of other newborns to push for legislation in Virginia. Their local delegate will carry the bill in the upcoming session.
"We're thankful she was born in Tennessee, but it's time for Virginia to start doing the same screenings so other children can benefit from the same intervention," Delegate Todd Pillion said. "We know early detection in health care is always cheaper and better and it provides for better health care outcomes."
North Carolina has introduced a bill about similar genetic conditions for their 2017-2018 legislative session.