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New Screening Process Helps Catch Rare Disorder in Infant

Family.jpg
Courtesy of Hauenstein family
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Doctors at Primary Children’s Hospital in Salt Lake recently diagnosed an infant with a rare and sometimes fatal condition. A new addition to Utah’s newborn screening protocol played a role in the discovery.

Calla Hauenstein was diagnosed with Severe Combined Immunodeficiency or SCID, a genetic disorder that severely weakens a human’s immune system. The ailment was added last year to a list of over 30 disorders and diseases that all Utah newborns are screened for. Calla’s case is the first one discovered under the new protocol. Kim Hart is the New Born Screening Manager for the Utah Department of Health. She says the system has helped save kids’ lives for decades.

“So Utah began newborn screening in 1965. The State of Utah took over the program in 1979. And every few years a condition is added to the newborn screening panel to screen infants in order to provide them with an earlier diagnoses and treatment for a better outcome,” says Hart.

Karin Chen is a Doctor at the University of Utah’s Department of Immunology. She says that although SCID is rare, it can be very dangerous for those who are diagnosed with it.

“SCID results in an important part of your immune system not working properly. And so then you are at risk for severe life threatening infections. With newborn screening happening we have better numbers and it seems that the incidences approximately 1 in 50,000,” says Hart.

To treat the disorder Calla will need a bone marrow transplant, and an anonymous donor has come forward to help.  Logan Hauenstein is Calla’s Father. He’s grateful that the transplant is coming together.

“Someone out there that we don’t know at all is basically saving Calla's life.   My wife and I both feel fairly helpless going into this. There is not much we can do other then hold our baby and comfort her. And this random individual is saving our baby's life,” says Hauenstein.

Calla’s transplant is scheduled for early November. 

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