Setting National Standards

Screening program identifies immune-deficient newborns

Doctors told Lisa Clark that her 4-month-old son Quentin might not live through the night. Pneumonia and rotavirus were ravaging his body, but he could not fight the infections. Days earlier Quentin had been diagnosed with severe combined immune deficiency (SCID), a genetic disorder that leaves children  without a functioning immune system.

“It was terrifying,” said Lisa Clark. “Quentin was born a healthy, happy baby. Until he got sick we had no idea there were any problems.”

He survived the night, but faced several other harrowing infections before coming under the care of Erwin Gelfand, MD, chair of pediatrics at National Jewish Health. Quentin is now receiving injections several times a week to replace a missing enzyme and monthly infusions of antibodies to provide immune protection while he waits for the bone marrow transplant that can offer long-lasting protection.

“Early diagnosis is crucial because the disease is fatal within the first six months if it is not detected and treated,” said Dr. Gelfand. “If we learn about the disease before the mother’s protection wears off we can start giving a child protection before he gets sick.”

National Jewish Health and Dr. Gelfand teamed up with the state of Colorado in 2012 to become one of the first states in the country to test all newborns for SCID. Dr. Gelfand is an internationally recognized expert on immune deficiencies. In the late 1960s, he was among the first to successfully transplant bone marrow in a SCID patient. He developed Canada’s first pediatric bone marrow transplant program. At National Jewish Health, Dr. Gelfand routinely sees SCID patients from around the nation.

“Early diagnosis is crucial because the disease is fatal within the first six months if it is not detected and treated.” — Erwin Gelfand, MD

If a newborn’s initial blood test suggests the child may have SCID, Dr. Gelfand sees the child and the National Jewish Health Advanced Diagnostic Laboratories runs more specific tests to make a definitive diagnosis. Within two weeks after regular testing in Colorado began, National Jewish Health diagnosed the first case of SCID in a baby. Jagger Kirsch was fortunate to quickly find a bone marrow donor and recently received a transplant.  

“Because of the early diagnosis and intervention, Jagger will hopefully avoid many of the consequences of the disease,” said Dr. Gelfand.