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 genetic testing, she replied, “Sure, why not?” That response has stayed with me because it treated a life-changing diagnosis as an afterthought.
Although the American Academy of Pediatrics recommended comprehensive genetic testing for children with unexplained developmental delay or intellectual disability in June 2025, implementation has lagged. Many families face significant barriers to obtaining testing, including long waitlists, limited access to genetics specialists, insurance denials and uncertainty about which tests to order and when.
The most recent data suggest that only about one in eight children with an intellectual disability receive genetic testing. Yet when tested, a genetic cause is identified in more than one in three children with developmental delay, intellectual disability, or autism — and in up to 53% of those with additional features suggestive of an underlying genetic syndrome. Even inconclusive results can lead to future diagnoses as science advances.
Our family was fortunate. We received a diagnosis within months of recognizing developmental concerns. Countless families spend years searching for answers, seeing specialist after specialist before finally reaching a diagnosis.
For all the heartbreak Diagnosis Day brought our family, it also brought clarity. Once we knew what we were facing, we could act. We found other families. We connected with researchers. We enrolled in studies. We began building a future that had once felt out of reach.
Today, my husband and I lead the AUTS2 Research Collaborative, a nonprofit dedicated to accelerating AUTS2 research and treatment development. We connect families with research opportunities, bring scientists together across the globe, and invest in the infrastructure needed to develop new treatments.
Just a decade ago, this work might have felt aspirational. Today, it feels increasingly urgent. Gene therapies, antisense oligonucleotides (medicines designed to change how genes are expressed) and other precision medicine approaches are moving rapidly into clinics. Conditions that were once considered untreatable are now the subject of active clinical trials. For the first time, many families — including ours — have reason to hope meaningful treatments may arrive within our children’s lifetimes.
As Genetic Testing Action Day approaches on July 25, we should be asking why so many families still have to fight so hard for answers. In 2026, genetic testing should not be an afterthought for children with unexplained developmental delays. Pediatricians should be equipped to incorporate genetic testing into the diagnostic evaluation of these children. Families should be able to access testing and diagnosis without months-long waits or insurance barriers.
For our family, a diagnosis was not the end of the story. It was the beginning. Every family deserves the same chance.
Goldwasser is the founder of AUTS2 Research Collaborative.