On September 5, 2024, Etta was born in New York, the youngest of three sisters in a military family. Her parents had no family history of immune disorders, and like so many babies with Severe Combined Immunodeficiency (SCID), Etta looked perfectly healthy at birth.
Nine days after Etta left the hospital, her parents got a call about the results of her newborn screening results: they were abnormal, and the test had flagged an issue with her T-cell receptor excision circles (TRECs). The TRECs test is a key indicator of immune function. The family immediately contacted a specialist an hour-and-a-half away at SUNY to schedule additional bloodwork to confirm the results of Etta’s heel prick test.
The results were clear: Etta had SCID due to a RAG1 gene mutation. Her mother remembers the call, saying, “I was told to isolate with Etta immediately. The rest moved very quickly.”
Etta’s care was transferred to Children’s Hospital of Philadelphia (CHOP), seven hours away from the family’s home in New York. The family made many seven-hour drives for further bloodwork, testing, and treatment.
After a bout of illness, thanks to the care of her medical team, Etta recovered enough to undergo a lifesaving peripheral blood stem cell transplant (PBSCT) on November 29, 2024. The months following the transplant were difficult for Etta, who endured multiple complications during her 93-day hospital stay. After 74 additional days at a Ronald McDonald house, Etta was finally healthy enough to go home.
Throughout Etta’s care, her mother connected with members of the SCID Foundation Facebook group (formerly SCID Angels for Life) and has found meaningful support from the group. “I talked to another mom, and she said making plans of all the things she wanted to do when she got out of the hospital helped to get her through,” said Etta’s mom. “When she was in the PICU for the second time…I put on Finding Dory. It was the only movie on there she paid any attention to. She stopped crying and just watched her fish. She still loves that movie.”
Today, Etta is home with her family, undergoing physical, occupational, and feeding therapy as she continues to recover and grow stronger each day. And this summer, just before her first birthday, her family received incredible news: Etta was cleared to begin vaccinations. Once she is given the “okay” from her medical team, Etta’s first big adventure out in the world will be a trip to the aquarium with her family to experience the world of Finding Dory.
Etta’s story is a powerful reminder of why newborn screening for SCID is so critical. Without it, her condition would likely not have been detected until it was too late. Instead, she now has the chance to grow, thrive, and live the life every child deserves. Her mom sums it up best: “She would have never made it to her first birthday or to the aquarium without newborn screening. It saved her life.”