On July 1, Tennessee added a rare genetic disorder called MPS I to its newborn screening program.
By Katie Bashista for Capital News Service
On July 13, Ruby Kate Leonard, whose parents live in Russell County, Virginia, was born in Bristol, Tennessee. Nine days after that, Ruby Kate’s parents received a call that she tested positive for MPS I. Treatment for the infant began immediately.
Had Ruby Kate been born in Russell County, early detection and treatment would not have been possible — because Virginia does not test for MPS I. When state Del. Todd Pillion, a Republican whose House district includes Russell County, heard Ruby Kate’s story, he introduced a bill to rectify the situation.
HB 1174 would add MPS I and Pompe disease, another rare genetic disorder, to Virginia’s newborn screening program. On Monday, the Senate joined the House in passing a version of the bill. The two chambers still must work out minor differences before the legislation goes to Gov. Ralph Northam to be signed into law.
The law would be welcome news to Ruby Kate’s family.
“We had heard of the disease, but we didn’t really know what it was,” said Ashley Keene, Ruby Kate’s mother. “She’s the first baby in Tennessee to be diagnosed with the disease through the new screening program.”
MPS I is caused by a gene mutation that prevents cells from breaking down glycosaminoglycans, which leads to cell, tissue and organ damage. Pompe disease is a result of a buildup of glycogen in the body’s cells that impairs muscles and organs, including the heart. Early detection of these disorders is crucial in saving babies’ lives.
Other conditions also require immediate attention. Del. Terry Austin, R-Botetourt, introduced HB 1362 after a baby boy in his district died after being diagnosed with a condition called MCADD too late. Since he was born on a Saturday and labs are closed on the weekends, the test results didn’t come in until the following Monday and the baby didn’t make it. The bill asks The Division of Consolidated Services and any other contracted labs by the Department of Health to screen newborns and children for time-critical disorders seven days a week.
“Had the labs been open on weekends the child would’ve been healthy,” Austin said.
A Senate Education and Health subcommittee approved HB 1362 on Tuesday. Monday’s Senate approval of HB 1174 included a substitute saying the bill can go into effect so long as funds are appropriated for it.
“This legislation will move Virginia in the right direction to make this critically important early detection possible, which is a crucial first step toward better health outcomes and lower long-term health costs,” Pillion said in a press release.
Ruby Kate has been receiving treatment at Duke University Medical Center in Durham, N.C., since September and has recently recovered from a fever. The family is now dealing with possible complications with her kidneys, according to the Ruby Kate’s Fight Facebook page.
“In the midst of everything we’re going through it’s just nice to know that this could help other babies like Ruby Kate,” Keene said.