girl learns to walk

Ana Sofia Buscemi, age 4

Photograph by Tonya Rangel (2021)

Ana Sofia has a smile that lights up a room. She’s patient, forgiving and kind. She is also a total water baby—it is absolutely her favorite thing to do! Whether it’s a bathtub, splash pad, pool, ocean, or just a puddle, she loves it all.

Ana Sofia has a rare genetic mutation in the CASK gene. This gene mutation caused microcephaly with cerebellar and pontine hypoplasia which means a small head with particularly small cerebellum. This affects nearly every aspect of her life including feeding, communicating, moving, and socializing.
This past year, Ana Sofia started walking and has been able to transition to eating all of her food by mouth instead of using a feeding tube. Seeing her pure joy at some of life’s simplest things—a good story, a warm bath, a good meal—reminds her family to appreciate the little things. She makes them feel proud every day.


Family Connection of South Carolina provides services and resources to families who have a child with a disability or specialized healthcare need. Since 1990 we have served more than 100,000 families and today our services are needed more than ever. We focus on parent-to-parent support, guidance with navigating the complex healthcare system, and assistance with school meetings and special education plans.

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