The types of uncertainty parents face when their child is diagnosed with and treated for severe combined immunodeficiency (SCID) is the focus of a research paper recently published in The European Journal of Human Genetics.
“Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening,” authored by SCID Compass partners RTI International, IDF staff, and a National Cancer Institute clinician, is an exploration of the challenges faced by parents as they navigate the SCID journey. Not only are parents dealing with a life-threatening, unexpected, and unfamiliar diagnosis with SCID, but one requiring a series of decisions related to complicated treatment shortly after their child’s birth.
Through interviews with 26 parents, the research team determined that chronic uncertainty spanned the SCID journey. Some uncertainties proved prominent throughout the SCID journey from diagnosis and treatment to recovery and returning home, while others took on a greater significance at different times during the SCID journey.
Parents expressed scientific uncertainty across all stages of the journey and dealt with questions such as:
Personal and practical concerns became more pressing at specific times in the SCID journey, and parents grappled with challenges like:
Parents also expressed existential uncertainty along the SCID journey as they worried about their baby’s survival, questioned if they made the right treatment choice, and remained vigilant as they watched their child’s development.
To lessen anxiety and fear, providers need to fortify parents with knowledge as soon as they begin the SCID journey, concluded the paper. Genetic counselors, immunologists, and transplant specialists should provide information and emotional support so parents can successfully manage and cope with the uncertainty of a SCID diagnosis.
Receive news and helpful resources to your cell phone or inbox. You can change or cancel your subscription at any time.
The Immune Deficiency Foundation improves the diagnosis, treatment, and quality of life for every person affected by primary immunodeficiency.
We foster a community that is connected, engaged, and empowered through advocacy, education, and research.
Combined Charity Campaign | CFC# 66309