10/27/2025
In our Family Questions and Perspectives feature, we’re honored to collaborate with Kaya Girl Legacy ( kayagirllegacy.com , on instagram) to share a rare disease parent’s powerful journey through uncertainty, hope, and discovery.
"I did genetic testing in 2014, and at that time SPLIS, the condition my daughter Kaya was later diagnosed with, had not yet been discovered. My results looked “normal” back then, but just a few years later researchers identified the gene involved. This is why reanalysis and updated testing are so important. What looks normal today may not be the full story tomorrow."
đź’™ Every test, every symptom, every question matters.
Interested in genetic testing for your infant? Learn more and enroll in Project FIND-OUT at projectfindout.org