SCID research paper explores types of uncertainty faced by parents

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:

• Why is our baby diagnosed with a life-threatening condition when they look healthy?
• How could the cause be genetic when none of our other children have SCID, and there are no cases of SCID in the family?
• Should we move forward with a bone marrow transplant (BMT) if we don’t have a perfect tissue type match, or should we wait until we find a perfect match?
• Is pre-conditioning chemotherapy necessary before the BMT, and how much should be administered?
•  What if the BMT doesn’t work or there are complications?
• Will our child need immunoglobulin replacement therapy after BMT?

Personal and practical concerns became more pressing at specific times in the SCID journey, and parents grappled with challenges like:

• How will taking time off from work to care for my family affect my employment?
• How can we afford medical costs not covered by insurance and costs associated with travel and lodging in the city where treatment takes place?
• How do we coordinate care for our other children while we are away at the hospital?
• How do we prepare our home to be clean as possible?
• How do we tell family and friends about the diagnosis and that they are not allowed to visit the new baby?
• How do we keep our marriage healthy amidst the stress of caring for a child with SCID?
• How do we maintain a strong relationship with our other children when we are away from them?

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.