Inside STAT: When hoofbeats really are a zebra’s, a rare-disease community helps me

(MIKE REDDY FOR STAT)

"When you hear hoofbeats, think of horses, not zebras." That's what physician and mother Jennifer Adaeze Okwerekwu was trying to tell herself when doctors shared that her 10-month old had some unusually low blood sugar levels that needed further investigation. Okwerekwu's training as a physician had her trying to focus on what was most likely, but as a parent, she also wanted to know how concerned to be for her child. When the family received a "zebra" of a diagnosis of congenital hyperinsulinism, what helped them through the diagnostic journey was a small, dedicated community of others whose children received the same diagnosis. The experience has now inspired Okwerekwu to encourage her own patients to seek out similar support when they receive rare diagnoses. Read more here.