Screening Test for Navajo Newborns Saves Babies Suffering from Severe Combined Immunodeficiency (SCID)

Joy Littlesunday is just one of many Navajo newborns who were screened and thus saved from severe combined immunodeficiency by a successful bone marrow transplant at UC San Francisco, reported UCSF News. Thanks to determined doctors like Jennifer Puck, MD, a pediatric immunologist, since 2014 nearly three million newborn babies have been screened post birth for the intense rare disease. Prior to her push, most babies would go unscreened, which led to many deaths.

Severe combined immunodeficiency, also known as SCID, is a rare disease that corrupts the immune system and can be lethal. SCID is extremely sensitive, and patients can be put in a life or death situation from simply brushing up against someone else with a cold. When a baby has SCID, their immune system can’t function correctly- more specifically, the body doesn’t produce strong B and T cells anymore. Those cells are the main defensive cells that identify and eliminate all infection that enters the body. To learn more about SCID, click here.

Someone with SCID has to be extremely cautious with where they go and who they surround themselves with. SCID affects about 1 in 58,000 babies, and it’s way more dense in the Navajo population, affecting about 1 in every 2,000 newborns.

Joy Littlesunday’s diagnosis was a little more extreme than others. The gene corrupted was her DCLRE1C, which is known as SCIDA- it heightens the diseases’ symptoms, as well as making it harder to detect. When she was born at 2 weeks years old, the main SCID doctor was out of town, so the nurse sent them home and said to come back soon. Home is much different for a Navajo family living in the reservation. They don’t have electricity or running water. Water had to be hauled from eight miles away. Joy’s mother, Christina, was later regretful to have washed her baby in the water, because while it’s OK to shower in, it’s not OK to drink.

Once they returned and learned the severity of Joy’s diagnosis, they needed to make immediate change even if that meant changing everything they ever knew. They made a new home in San Francisco so that Joy could receive a bone marrow transplant. While it was a big change, the health of their daughter will always remain priority.

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