A recent national survey has unveiled significant confusion among parents whose newborns are diagnosed with cystic fibrosis (CF), a genetic disorder affecting thousands of children and adults in the United States. The findings underscore the critical need for increased awareness and support for families navigating the complexities of CF diagnosis and treatment.

The survey, conducted by researchers including Dr. Susanna McColley, scientific director for interdisciplinary research partnerships at the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, revealed that many parents are unaware of both the disease itself and the routine screening process for CF in newborns.

Shockingly, approximately half of the surveyed parents were unaware that newborns are routinely screened for CF, highlighting a significant gap in public awareness surrounding newborn screening practices. This lack of awareness can lead to delays in treatment, ultimately impacting the long-term health outcomes of children with CF.

Dr. McColley emphasized the importance of fostering stronger partnerships between clinicians and new parents to improve outcomes for conditions like CF. She stressed the need for greater public awareness, particularly regarding the fact that infants of all racial and ethnic backgrounds can be affected by CF.

CF is a life-threatening condition characterized by the buildup of thick, sticky mucus in various organs, including the lungs, pancreas, and liver. Early diagnosis through newborn screening is crucial for initiating timely treatment and improving long-term health outcomes.

However, the survey revealed troubling disparities in CF diagnosis, particularly among Black, Hispanic, and Asian newborns, who are more likely to experience delayed or missed diagnoses. This delay in diagnosis can lead to worse nutrition, increased lung disease, and poorer growth in childhood, ultimately impacting the overall health and well-being of children with CF.

Despite widespread awareness of CF among surveyed parents, many lacked understanding of its inclusion in newborn screening tests. Moreover, a significant portion of parents who received positive screening results reported difficulty understanding the results and feeling unsupported by their child’s healthcare team.

Marie Heffernan, survey science lead at the Stanley Manne Children’s Research Institute, highlighted the need for increased support and education for parents, particularly regarding the potential for false positive and false negative screening results. Timely follow-up and intervention, she stressed, are crucial for ensuring the health, development, and survival of infants identified with CF through newborn screening.

The survey findings underscore the importance of raising awareness, providing support, and improving communication between healthcare providers and families to ensure timely diagnosis and intervention for CF and other genetic disorders identified through newborn screening. By addressing these challenges, healthcare professionals can strive towards better health outcomes for all infants affected by CF.