26.2 for Luca and Families Like Mine
My wife and I were expecting our first son in 2021. At the 20-week anatomy scan at NYU Langone, an ultrasound technician started measuring, then remeasuring, his long bones. Two doctors came in to confirm what she'd found, and told us our son had Thanatophoric Dysplasia, a rare skeletal dysplasia caused by a gene spontaneous mutation. It's a diagnosis most people never hear about.
In the brutal days that followed, the people caring for us were calm in the chaos. Doctors who had seen this before. A Geneticist who could explain what a de novo FGFR3 mutation meant, and just as importantly, what it didn't mean for our future. Nurses who knew how to be present. A care team that coordinated around us so that in the worst weeks of our lives, we never had to navigate alone. They gave us the best possible outcome available to us. We met our son. I held him as he passed away.
That team knew what they were doing because of the accumulated knowledge of rare disease medicine: the research, the case histories, the specialist networks that organizations like NORD (the National Organization for Rare Disorders) make possible. NORD exists so that no rare disease family has to face their diagnosis in the dark. I know firsthand what that light means.
I'm running the TCS New York City Marathon for NORD Running for Rare, for the 30 million Americans living with rare diseases, and for the families sitting in an anatomy scan right now, hearing something they weren't prepared for, wondering what comes next. I'm running because the right people showed up for my family when we needed them most. And I'm running for my son, who never got the chance to, but who is every reason I will.
If you're able to support this run with a donation, I'd be deeply grateful. Every dollar helps NORD keep showing up for families in their hardest moments, the way they showed up for mine. And if a donation isn't possible right now, simply reading this far, and carrying my son's story with you, means more than you know.
Thank you for being part of these 26.2 miles with me.
