As parents, we are all too familiar with the uncertainty that comes with a Primary Immunodeficiency diagnosis. There was limited medical knowledge when Jeffrey was diagnosed with hypogammaglobulinemia, and our lives were thrown into turmoil as we searched for answers, information, and clear explanations.
Today, newborns are tested for SCID and dozens of other disorders within 24 to 48 hours of birth so that any genetic mutations are caught early and can be properly diagnosed and treated accordingly. Time is of the essence when it comes to newborn screening and diagnosis, which is why we lobbied for so long for SCID to be added to the national core screening panel.
Even though a positive test or diagnosis can be frightening or intimidating, comprehensive knowledge and understanding empowers parents and families to make informed choices for their child’s well-being and health. The medical care team typically explains the newborn screening process prior to birth so that parents and families are informed and know what to expect. Just a few drops of blood can make all the difference in long-term quality of life!
Another significant benefit of newborn screening is the cost saving benefits to parents and families: screening for SCID saves, on average, hundreds of thousands of unexpected dollars in medical bills and care over time. When we were lobbying for SCID screening, money was an obstacle for many states, but we challenged that high medical bills would be an equally complicated obstacle for families trying to save their child and improve their quality of life.
Be sure to speak with your medical care team if you have any questions or concerns about newborn screening. Remember, you are always your own best advocate!