In 2023, my wife, Jenna, and I brought our first child home from the hospital—a precious, energetic little boy. A week later, our joy was shaken when we learned that our newborn son had screened positive for acid sphingomyelinase deficiency (ASMD), an extremely rare disease affecting roughly 1 in 250,000 people.
After confirming his diagnosis, we spent his first year praying he would meet his developmental milestones, which would indicate a less severe form of the disease that could be treated. Miraculously, he did.
At age two, he began biweekly enzyme replacement therapy (ERT) infusions to prevent permanent organ damage. The treatment isn’t easy, but several months in, he continues to thrive. It protects him from debilitating symptoms and allows him to spend more than 90% of his time simply being a happy, healthy kid.
We know how fortunate we are. The treatment our son receives was only FDA-approved in 2022, and the newborn screening that caught his disease was available in only two states when he was born. Most patients aren’t diagnosed until years of worsening symptoms have already caused permanent damage.
I run and raise money for the families still waiting for effective treatments, newborn screening, and advocacy. I’m incredibly grateful to the scientists, doctors, and advocates who gave our son a chance—and I want to help give that chance to others.
If you’re able, I would greatly appreciate a contribution to the National Organization for Rare Disorders (NORD). Together, we can help expand treatment options and care for even the rarest diseases.
