ABOUT THE GRANT

Disclosure of positive newborn screening (NBS) results for Krabbe disease is a potentially very sensitive and stressful time for families.
There are high stakes in connecting families to appropriate specialized care in a timely manner particularly for those detected at risk for early
infantile Krabbe disease. Families have expressed that they would like their established pediatrician to communicate NBS results with them,
potentially supplemented by a rapid referral to a genetics/ neurogenetics expert. However, families have reported a broad range of suboptimal
experiences in learning about their child’s NBS results. A potential barrier to improving the family’s experience is the skill of the provider and
team surrounding medical communication particularly for NBS result disclosure. In this proposed project, we will assess challenges to optimal
disclosure of NBS results for Krabbe disease in Pennsylvania (which is among states that include Krabbe disease on the NBS). In Aim 1, we will
interview and survey general pediatricians in Pennsylvania to understand their experiences disclosing NBS results including for Krabbe disease,
challenges to optimal result disclosure, recommendations for improving current processes, and educational needs around NBS for Krabbe disease.
In Aim 2, we will interview and survey families who received a positive result on the NBS for Krabbe disease who have received care at our institution
about their experiences with communicating with healthcare professionals about the NBS results, how initial NBS result communication impacted
their subsequent connection to follow up care, and recommendations for improvement in processes and diagnosis communication. In Aim 3, we will
partner with families who screened positive on the NBS for Krabbe disease as well as professionals such as health system leadership, genetics/
metabolic experts, and general pediatricians) to design an intervention to improve disclosure of NBS results for Krabbe disease by healthcare
professionals to families. The findings of this study will be impactful for improving communication about Krabbe disease and NBS results in states
that currently include Krabbe Disease on the NBS as well as those that will include Krabbe disease on the NBS in the future.

An Interview with Laura Kirkpatrick, MD

Laura Kirkpatrick, MD is an Assistant Professor of Pediatrics and Neurology at the University of Pittsburgh, and a pediatric neurologist at UPMC Children’s Hospital of Pittsburgh. She is the Associate Director of Child Neurology Research for the Division of Child Neurology. Her research focuses on improving communication between child neurologists and families about difficult topics, including diagnosis disclosure and psychosocial or quality-of-life implications of pediatric-onset neurologic conditions.