At the bustling Chicago O’Hare airport, my luggage and I collided with an elderly couple. My heart sank when I realized my vision had failed me again. Because of a connective tissue disorder, my peripheral vision and balance were impaired, making such unintentional mishaps part of my journey.
Moments like these are stark reminders of the day-to-day issues that patients with rare diseases often face. I know this not only from my own experience living with a genetic disorder, but also from treating many patients and researching gene therapies for more than two decades.
Fortunately, my symptoms were largely alleviated when geneticists and doctors at the National Institutes of Health and the Baylor College of Medicine found a treatment that compensates for the mutated protein behind the disorder.
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