What was supposed to be a relaxing mother-daughter trip to Italy ended with me collapsing in a Roman ER, my body refusing to cooperate. The diagnosis? A disease we never saw coming—one that had been hiding in our family for generations.
The Vacation That Became a Nightmare
Day 1: My mom joked about my clumsiness when I spilled coffee twice.
Day 3: I needed her help buttoning my shirt—my fingers wouldn’t obey.
Day 5: Collapsed mid-tour at the Colosseum, legs giving out without warning.
Italian doctors initially diagnosed “severe jet lag” until one neurologist noticed:
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My unusual eye movements (later confirmed as nystagmus)
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A slight slur in my speech that came and went
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My mother’s identical symptoms—brushed off for years as “normal aging”
The Shocking Diagnosis
Genetic testing revealed:
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Spinocerebellar Ataxia Type 2 (SCA2)
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A degenerative neurological disorder that attacks balance, speech, and coordination
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50% chance I passed it to my own children
Most crushing? Learning my mom knew something was wrong but avoided doctors out of fear.
The Family Tree of Secrets
We discovered:
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3 generations affected (grandfather died “mysteriously” in his 50s)
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7 living relatives showing early symptoms in denial
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A cousin who’d been misdiagnosed with MS for a decade
Fighting Back
Though incurable, we’re now:
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Enrolled in gene therapy trials
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Using AI speech apps before our voices degrade
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Warning extended family through a private Facebook group
The Bittersweet Silver Lining
That “failed” vacation gave us:
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Answers before I had kids of my own
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Time to record our voices reading childhood books
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A new mission as rare disease advocates