Currently, not much is known about child development, caregiver well-being and impact on family functioning for children diagnosed with Severe Combined Immunodeficiency (SCID). Additionally, not much is understood about the natural history of T Cell Lymphopenia (TCL), which affects the care patient's receive.
SCID and TCL are rare genetic disorders that affect the immune system, leaving infants extremely vulnerable to infections. SCID is caused by mutations in different genes involved in the development and function of infection-fighting immune cells. T cell lymphopenia occurs when your body does not make enough or makes non-working T-cell lymphocytes. Without these working cells, the immune system cannot function correctly, leaving the body unprotected from serious infections. Early detection and treatment are crucial for the survival and well-being of these infants.
In 2010, California became the first state in the United States to implement routine screening for SCID in newborns through the California Newborn Screening (NBS) Program. Newborn screening for SCID allows for the early detection of affected infants, enabling timely medical intervention. Babies with SCID can receive bone marrow transplants or gene therapies that can significantly improve their prognosis if initiated early in life. These treatments can help rebuild the weakened immune system and make it stronger, but it takes time, which is where long-term follow-up comes in.
Our goal is to create a long-term follow-up program that supports patients, children, and caregiver well-being for children diagnosed with SCID and TCL.
This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $1,093,190 with 0% percentage financed with non-governmental sources. The content are those of the author(s) and do not necessarily represent the official views of, nor endorsement, by HRSA, HHS, or U.S. Government. For more information, please visit HRSA.gov