Terry Pirovolakis receives roughly 5 to 10 messages a week from strangers. Sometimes, his inbox fills overnight with emails from China. Sometimes, he’ll end a string of Zoom meetings to find texts from across the U.S.
Their stories are as variable as our 3 billion-letter genomes and the still-uncounted ways they can go wrong: Muscles crumbling, neurons misfiring, eyes fading to black. Yet they all have the same request: My child faces a devastating rare disease, can you help us?
One of those emails came late at night last year from the sleepy Denver suburb of Littleton, where Rebekah Lockard lay curled around a beanbag. Lockard’s 1-year-old daughter Naomi had just been diagnosed with hereditary spastic paraplegia-50, or SPG50, a condition known to affect around 100 people on the planet.
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