HealthIT Answers July 27, 2022
On this episode I talked to Geri Landman, MD, MPH a pediatric urgent care physician, and Zach Landman, MD, MPH Interventional Pain Medicine Fellow at Stanford University. Their daughter Lucy (@lucythepgap3goose) has a rare single-gene disorder – she has two bad copies of the PGAP3 gene, one of the many genes involved in cell communication. In Lucy’s case, one tiny amino acid difference in one protein molecule (Phospholipase C).
Any parent will recognize the anguish of this and the challenge of finding answers, made especially hard in this case with the parents both physicians and mom a pediatrician. Their journey to a diagnosis was not straightforward and as you will hear involved a degree of luck with one of the...
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