2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.

backgroundMedium chain acyl CoA dehydrogenase deficiency (MCADD) is a rare, autosomal recessive disorder of fatty acid β-oxidation, which is typically diagnosed via newborn screening in the United States. Nutrition management during times of wellness and emergency care during times of illness are necessary to optimize outcomes. While guidelines for care have been published, there is variability in management between clinics. BODY: The 2023 MCADD Patient and Family Education Summit with Providers was a global virtual summit of parents/carers of children with MCADD, adult patients, and healthcare providers to explore current trends and to identify unmet needs related to MCADD management. The summit included presentations by specialists and open discussions between patients, parents/carers and providers. We identified areas in which patients/carers and providers were in agreement (e.g., provision of emergency letters), and areas where there appeared to be discordance (e.g., provision of sick day protocols and use of home glucose monitors).

conclusionThe summit provided an innovative model for education and research, effectively engaging a global audience around patient-centered priorities and to advance research. Creating more opportunities for such educational and discussion forums could benefit both attendees and those involved in MCADD or other rare genetic disorders research, potentially improving patient outcomes.