- Associated Press - Thursday, January 23, 2014

COLUMBIA, S.C. (AP) - South Carolina’s health department will soon be testing the state’s newborn babies for a disorder that is often fatal without early detection, officials told The Associated Press on Thursday.

By summer, the Department of Health and Environmental Control, or DHEC, should have in place the staff and systems needed to start testing newborns for severe combined immunodeficiency, informally known as “bubble boy” disease, director Catherine Templeton said in an interview.

Affected children basically lack a healthy immune system, leaving them susceptible to life-threatening infections they can’t fight off. The screening will identify if a child has a set of genetic disorders that cause immune system defects and can be fatal in the first year of life.

According to the Immune Deficiency Foundation, a Maryland-based national patient organization, between 40 and 100 babies are diagnosed with the disorder nationally per year.

At birth, babies are still protected by antibodies that are passed on by their mothers in utero. But those protections wear off within weeks, leaving a baby with severe combined immunodeficiency vulnerable.

“If caught and treated, it’s completely treatable,” Templeton said. “Otherwise, it ends up in death. … And it’s a disease that you don’t know why they died until after they die.”

If affected babies are diagnosed early enough - within their first few weeks of life - they can be treated with a bone marrow transplant, which will jumpstart their bodies’ ability to fight infection.

“To be one mother in South Carolina and to know that, if our state had just chosen to do this, your child would still be alive and would be fine, a healthy functioning adult - I think that that’s tragic,” Templeton said.

The SCID testing is being added to a list of dozens of disorders, such as cystic fibrosis and sickle cell disease, for which South Carolina newborns are already screened via blood taken from a heel prick within their first few days of life. The new screening is DNA-based, so Templeton says DHEC will need new equipment and two additional staffers for the tests, changes that will cost the agency around $300,000.

Nineteen other states already do SCID tests, according to the department, and all of the screening in South Carolina will be done at the agency’s lab in Columbia, as it is for other newborn tests.

Along with implementing the new screening process, Templeton said that she’s also going to start asking hospitals for information about how they gather and transport blood samples to the agency to make sure testing is done as quickly as possible.

“The doctors and the hospitals are doing a good job,” Templeton said. “We don’t want to tell them how to do it. We just want to make sure that it gets done in a certain timeframe.”


Kinnard can be reached at https://twitter.com/MegKinnardAP

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