And so, we sail: Of diagnoses and demons on this diagnostic odyssey
This one was a long time coming. The bulk of it was initially written in early in 2019, on a whim, as I sat by the pool at a local YMCA, watching my son play—tearfully reflecting on his years-long journey to find out which genetic conditions ailed him. Little did I know that two years later, I’d land a National Press Foundation rare disease reporting fellowship—and something very similar would become my first piece.
When I first read the phrase, I thought he was waxing poetic, striving to be both a doctor and a wordsmith — a Renaissance man of sorts.
“Cyrus’ hypotonia and congenital malformations have led his mother along a diagnostic odyssey for possible underlying genetic causes,” wrote a young doctor at a hospital in Utah, where we’d flown to see a pioneer in genetics.
Diagnostic odyssey.
The phrase was perfect — satisfyingly so.
That’s what this is, I thought. There was a name for this “fresh hell” I’d experienced for the past five years, this string of doctor appointment, doctor appointment, hospital visit, doctor appointment. For this journey to five states, seeking answers to what was “wrong” with my son, who I would later learn has genetic “errors” so rare that it is much easier for doctors to dismiss them than to admit that they don’t have the time, interest or intellectual bandwidth to put a name to them.