The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re‐evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family’s clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p.Met433Valfs*17), add to the literature about MFDM. This case presented several genetic counseling challenges and highlights that “the patient” can be multiple family members. We discuss testing considerations for an unknown disorder complicated by the time constraint of the patient’s daughter’s pregnancy and how the diagnosis changed previously provided recurrence risks. Of note, 1) the 1980s clinic visit letters provided critical information about affected family members and 2) the patient’s husband’s internet search of his wife’s clinical features also yielded the MFDM diagnosis, illustrating the power of the internet in the hands of patients. Ultimately, this case emphasizes the importance of re‐evaluation given advances in genetics and the value of a genetic diagnosis for both patient care and risk determination for family members.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147210/1/jgc40894.pd

Promoting Signing of Advance Directives in Faith Communities

OBJECTIVE: To develop a participatory educational program implemented in faith communities that would increase discussion and signing of two types of advance directives—living will and durable power of attorney for health care decisions. DESIGN: Longitudinal study with four annual cycles of program implementation, evaluation, and revision incorporating a program that fostered the discussion, signing, and/or revision of advance directives. The program involved an educational workbook and ongoing support by parish nurses. SETTING: Seventeen faith communities in Wichita, Kansas. Faith communities included several predominantly white congregations, as well as several primarily African-American and Hispanic congregations. PARTICIPANTS: Seventeen faith communities, their pastors, and 25 parish nurses worked with 361 self-selected residents, living in community settings, to participate in the program as members of their faith communities. Congregations were recruited by the executive director of a local interfaith ministries organization and parish nurses. MAIN RESULTS: Two hundred forty-eight (69%) of the congregants who started the program completed it. Of the program completers, 83 (33%) had a directive prior to the program and 140 (56%) had a directive after completion. One hundred eighty-six of the completers discussed directives with family members. Overall, 89 (36%) of the 248 program completers revised an existing directive or signed one for the first time. Age was positively related to having signed/revised a directive prior to the program. Fear that advance directives would be used to deny medical care was negatively related to signing both prior to the program and after program completion, and contributed to participants' reluctance to sign directives. CONCLUSIONS: Educational programs implemented by parish nurses in faith communities can be effective in increasing rates of discussion, revision, and/or signing of advance directives