The South Carolina Department of Public Health has expanded newborn genetic screening to include Hunter syndrome and Fabry disease.For the last few years, the department has been able to detect 58 different conditions, but now that number will sit at 60. According to SCDPH, Hunter syndrome is a condition where the body can’t break down certain sugars, leading to it affecting organs. Without early treatment, it can cause irreversible harm. Fabry disease is when the body can’t process certain fats, putting people at an increased risk for stroke, kidney disease and heart attack. The testing includes a doctor pricking the heel of an infant and using a small dab of blood onto a special screening paper. SCDPH officials said there are couriers across the state that transport the samples to Columbia to be tested. “The results go automatically electronically into their electronic health records. So, it reduces the chance of a manual entry error. And it speeds up; mainly, it speeds up the delivery of negative results,” said Dr. Brannon Traxler, the acting SCDPH Director. Hunter syndrome and Fabry disease are life-altering conditions, and health officials said this advancement puts the state in a place to continue offering advanced technology and early detection but at an even larger scale. In both conditions, the newborn period serves as a critical time for intervention. Hannah Burgess and her husband gave birth to John Taylor, or “JT” for short, three years ago. The Anderson County family learned earlier this year that JT was diagnosed with Hunter syndrome after dozens of doctor’s appointments and testing. “Over the course of three years was we feel like we weren’t being heard every time we took him to an appointment. And it was, well, let’s try this medication or this or let’s do this surgery and then things will get better. And, and we came to realize after a while that we were just throwing solutions at something that nobody knew what it was. A parent is their child’s strongest advocate,” Burgess said. When JT was born, detection of Hunter syndrome was not available, and now the Burgess family is thankful other families and children can get answers sooner than they did. “As parents, we have prayed and prayed for answers, but as a mother, it brings me so much hope that other families will get their answers earlier. Earlier diagnosis means early treatment and earlier intervention, and that is just so important,” Burgess said.Traxler told WYFF 4 the expansion truly does help save babies’ lives and can significantly improve them. The screening is not an instant diagnosis if one of the conditions returns positive but does allow health care professionals to take immediate action if necessary. The process is now even more streamlined thanks to a state partnership that will implement a new electronic system.Traxler said the system will lessen manual entry errors from providers by transmitting things electronically instead.
COLUMBIA, S.C. —
The South Carolina Department of Public Health has expanded newborn genetic screening to include Hunter syndrome and Fabry disease.
For the last few years, the department has been able to detect 58 different conditions, but now that number will sit at 60.
According to SCDPH, Hunter syndrome is a condition where the body can’t break down certain sugars, leading to it affecting organs. Without early treatment, it can cause irreversible harm. Fabry disease is when the body can’t process certain fats, putting people at an increased risk for stroke, kidney disease and heart attack.
The testing includes a doctor pricking the heel of an infant and using a small dab of blood onto a special screening paper. SCDPH officials said there are couriers across the state that transport the samples to Columbia to be tested.
“The results go automatically electronically into their electronic health records. So, it reduces the chance of a manual entry error. And it speeds up; mainly, it speeds up the delivery of negative results,” said Dr. Brannon Traxler, the acting SCDPH Director.
Hunter syndrome and Fabry disease are life-altering conditions, and health officials said this advancement puts the state in a place to continue offering advanced technology and early detection but at an even larger scale. In both conditions, the newborn period serves as a critical time for intervention.
Hannah Burgess and her husband gave birth to John Taylor, or “JT” for short, three years ago. The Anderson County family learned earlier this year that JT was diagnosed with Hunter syndrome after dozens of doctor’s appointments and testing.
“Over the course of three years was we feel like we weren’t being heard every time we took him to an appointment. And it was, well, let’s try this medication or this or let’s do this surgery and then things will get better. And, and we came to realize after a while that we were just throwing solutions at something that nobody knew what it was. A parent is their child’s strongest advocate,” Burgess said.
When JT was born, detection of Hunter syndrome was not available, and now the Burgess family is thankful other families and children can get answers sooner than they did.
“As parents, we have prayed and prayed for answers, but as a mother, it brings me so much hope that other families will get their answers earlier. Earlier diagnosis means early treatment and earlier intervention, and that is just so important,” Burgess said.
Traxler told WYFF 4 the expansion truly does help save babies’ lives and can significantly improve them. The screening is not an instant diagnosis if one of the conditions returns positive but does allow health care professionals to take immediate action if necessary. The process is now even more streamlined thanks to a state partnership that will implement a new electronic system.
Traxler said the system will lessen manual entry errors from providers by transmitting things electronically instead.