On Jan. 10, 2025, one day after our son’s first birthday, a genetic test gave us an answer we never expected. We learned our son has AUTS2 syndrome, a rare neurodevelopmental condition caused by a spontaneous genetic change that neither my husband nor I carry.

We had no family history, no abnormal prenatal screening results, and nothing suggested a genetic diagnosis was part of our future.

But by eight months, we knew something wasn’t quite right. Our son wasn’t sitting independently and seemed to be missing developmental milestones. When we sought early intervention services, we were told he wasn’t delayed enough to qualify. When we asked about additional therapies, we were told it was too early. Our pediatrician told us a genetic condition was unlikely because he lacked obvious syndromic features.

When we finally saw a developmental pediatrician, she confirmed what we already suspected: our son was delayed and needed further evaluation. When I asked about........

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